WorldWideScience

Sample records for chinese family identified

  1. AKAP2 identified as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis

    Science.gov (United States)

    Li, Wei; Li, YaWei; Zhang, Lusi; Guo, Hui; Tian, Di; Li, Ying; Peng, Yu; Zheng, Yu; Dai, Yuliang; Xia, Kun; Lan, Xinqiang; Wang, Bing; Hu, Zhengmao

    2016-01-01

    Background Adolescent idiopathic scoliosis exhibits high heritability and is one of the most common spinal deformities found in adolescent populations. However, little is known about the disease-causing genes in families with adolescent idiopathic scoliosis exhibiting Mendelian inheritance. Objective The aim of this study was to identify the causative gene in a family with adolescent idiopathic scoliosis. Methods Whole-exome sequencing was performed on this family to identify the candidate gene. Sanger sequencing was conducted to validate the candidate mutations and familial segregation. Real-time QPCR was used to measure the expression level of the possible causative gene. Results We identified the mutation c.2645A>C (p.E882A) within the AKAP2 gene, which cosegregated with the adolescent idiopathic scoliosis phenotypes. AKAP2 is located in a previously reported linkage locus (IS4) on chromosome 9q31.2–q34.2 and has been implicated in skeletal development. The mutation was absent in dbSNP144, ESP6500 and 503 ethnicity-matched controls. Real-time QPCR revealed that the mRNA expression level in the patients was increased significantly compared with the family controls (p<0.0001). Conclusions AKAP2 was therefore implicated as a novel gene mutated in a Chinese family with adolescent idiopathic scoliosis. Further studies should be conducted to validate the results from the perspective of both the genetics and pathogenesis of this disease. PMID:26989089

  2. Targeted exome capture and sequencing identifies novel PRPF31 mutations in autosomal dominant retinitis pigmentosa in Chinese families

    OpenAIRE

    Yang, Liping; Yin, Xiaobei; Wu, Lemeng; Chen, Ningning; Zhang, Huirong; Li, Genlin; Ma, Zhizhong

    2013-01-01

    Objectives To identify disease-causing mutations in two Chinese families with autosomal dominant retinitis pigmentosa (adRP). Design Prospective analysis. Patients Two Chinese adRP families underwent genetic diagnosis. A specific hereditary eye disease enrichment panel (HEDEP) based on targeted exome capture technology was used to collect the protein coding regions of targeted 371 hereditary eye disease genes; high throughput sequencing was done with the Illumina HiSeq 2000 platform. The iden...

  3. A Novel COL4A5 Mutation Identified in a Chinese Han Family Using Exome Sequencing

    Directory of Open Access Journals (Sweden)

    Xiaofei Xiu

    2014-01-01

    Full Text Available Alport syndrome (AS is a monogenic disease of the basement membrane (BM, resulting in progressive renal failure due to glomerulonephropathy, variable sensorineural hearing loss, and ocular anomalies. It is caused by mutations in the collagen type IV alpha-3 gene (COL4A3, the collagen type IV alpha-4 gene (COL4A4, and the collagen type IV alpha-5 gene (COL4A5, which encodes type IV collagen α3, α4, and α5 chains, respectively. To explore the disease-related gene in a four-generation Chinese Han pedigree of AS, exome sequencing was conducted on the proband, and a novel deletion mutation c.499delC (p.Pro167Glnfs*36 in the COL4A5 gene was identified. This mutation, absent in 1,000 genomes project, HapMap, dbSNP132, YH1 databases, and 100 normal controls, cosegregated with patients in the family. Neither sensorineural hearing loss nor typical COL4A5-related ocular abnormalities (dot-and-fleck retinopathy, anterior lenticonus, and the rare posterior polymorphous corneal dystrophy were present in patients of this family. The phenotypes of patients in this AS family were characterized by early onset-age and rapidly developing into end-stage renal disease (ESRD. Our discovery broadens the mutation spectrum in the COL4A5 gene associated with AS, which may also shed new light on genetic counseling for AS.

  4. Exome sequencing identifies DLG1 as a novel gene for potential susceptibility to Crohn's disease in a Chinese family study.

    Directory of Open Access Journals (Sweden)

    Shufang Xu

    Full Text Available BACKGROUND: Genetic variants make some contributions to inflammatory bowel disease (IBD, including Crohn's disease (CD and ulcerative colitis (UC. More than 100 susceptibility loci were identified in Western IBD studies, but susceptibility gene has not been found in Chinese IBD patients till now. Sequencing of individuals with an IBD family history is a powerful approach toward our understanding of the genetics and pathogenesis of IBD. The aim of this study, which focuses on a Han Chinese CD family, is to identify high-risk variants and potentially novel loci using whole exome sequencing technique. METHODS: Exome sequence data from 4 individuals belonging to a same family were analyzed using bioinformatics methods to narrow down the variants associated with CD. The potential risk genes were further analyzed by genotyping and Sanger sequencing in family members, additional 401 healthy controls (HC, 278 sporadic CD patients, 123 UC cases, a pair of monozygotic CD twins and another Chinese CD family. RESULTS: From the CD family in which the father and daughter were affected, we identified a novel single nucleotide variant (SNV c.374T>C (p.I125T in exon 4 of discs large homolog 1 (DLG1, a gene has been reported to play multiple roles in cell proliferation, T cell polarity and T cell receptor signaling. After genotyping among case and controls, a PLINK analysis showed the variant was of significance (PA (p.R278Q in exon 9 of DLG1. CONCLUSIONS: We have discovered novel genetic variants in the coding regions of DLG1 gene, the results support that DLG1 is a novel potential susceptibility gene for CD in Chinese patients.

  5. A novel nonsense mutation in BBS4 gene identified in a Chinese family with Bardet-Biedl syndrome

    Institute of Scientific and Technical Information of China (English)

    Li Qian; Zhang Yongpeng; Jia Liyun; Peng Xiaoyan

    2014-01-01

    Background Bardet-Biedl syndrome (BBS) is a genetically heterogeneous disease,and information about BBS in Chinese populations is very limited.The purpose of the present study was to determine the genetic cause of BBS in a Chinese Han family.Methods Clinical data were recorded for the 4-year-old female proband and the available family members.The proband was screened for mutation by Sanger sequencing for a total of 142 exons of the 12 BBS-causing genes (BBS1-BBS12).The variants detected in the proband were further confirmed in the other family members.Results We identified a novel homozygous nonsense mutation (c.70A>T,p.K24X) in the BBS4 gene exon 2 in the proband.Such mutant allele was predicted to cause a premature truncation in the N-terminal of the BBS4 protein,and probably induced the nonsense-mediated decay of BBS4 messenger RNAs.The proband's parents and brother were heterozygous for the nonsense mutant allele.It was absent in 50 Chinese control subjects.An additional rare heterozygous missense single nucleotide polymorphism (SNP) named rs200718870 in BBS10 gene was also detected in the proband,her father and her brother.Some manifestations of the proband including atypical retinitis pigmentosa,choroidal sclerosis,high myopia,and early onset of obesity might be associated with this mutation in BBS4 gene.The proband's father also reported surgical removal of an extra finger during childhood.Conclusions The present study described a novel nonsense mutation in BBS4 gene in a Chinese family.This homozygous mutation was predicted to completely abolish the synthesis of the BBS4 protein.We also detected a rare heterozygous missense SNP in BBS10 gene in the family,but did not find sufficient evidence to support the triallelic inheritance.

  6. Whole exome sequencing identifies recessive PKHD1 mutations in a Chinese twin family with Caroli disease.

    Directory of Open Access Journals (Sweden)

    Xiwei Hao

    Full Text Available BACKGROUND: Mutations in PKHD1 cause autosomal recessive Caroli disease, which is a rare congenital disorder involving cystic dilatation of the intrahepatic bile ducts. However, the mutational spectrum of PKHD1 and the phenotype-genotype correlations have not yet been fully established. METHODS: Whole exome sequencing (WES was performed on one twin sample with Caroli disease from a Chinese family from Shandong province. Routine Sanger sequencing was used to validate the WES and to carry out segregation studies. We also described the PKHD1 mutation associated with the genotype-phenotype of this twin. RESULTS: A combination of WES and Sanger sequencing revealed the genetic defect to be a novel compound heterozygous genotype in PKHD1, including the missense mutation c.2507 T>C, predicted to cause a valine to alanine substitution at codon 836 (c.2507T>C, p.Val836Ala, and the nonsense mutation c.2341C>T, which is predicted to result in an arginine to stop codon at codon 781 (c.2341C>T, p.Arg781*. This compound heterozygous genotype co-segregates with the Caroli disease-affected pedigree members, but is absent in 200 normal chromosomes. CONCLUSIONS: Our findings indicate exome sequencing can be useful in the diagnosis of Caroli disease patients and associate a compound heterozygous genotype in PKHD1 with Caroli disease, which further increases our understanding of the mutation spectrum of PKHD1 in association with Caroli disease.

  7. Exome sequencing identifies a novel frameshift mutation of MYO6 as the cause of autosomal dominant nonsyndromic hearing loss in a Chinese family.

    Science.gov (United States)

    Cheng, Jing; Zhou, Xueya; Lu, Yu; Chen, Jing; Han, Bing; Zhu, Yuhua; Liu, Liyang; Choy, Kwong-Wai; Han, Dongyi; Sham, Pak C; Zhang, Michael Q; Zhang, Xuegong; Yuan, Huijun

    2014-11-01

    Autosomal dominant types of nonsyndromic hearing loss (ADNSHL) are typically postlingual in onset and progressive. High genetic heterogeneity, late onset age, and possible confounding due to nongenetic factors hinder the timely molecular diagnoses for most patients. In this study, exome sequencing was applied to investigate a large Chinese family segregating ADNSHL in which we initially failed to find strong evidence of linkage to any locus by whole-genome linkage analysis. Two affected family members were selected for sequencing. We identified two novel mutations disrupting known ADNSHL genes and shared by the sequenced samples: c.328C>A in COCH (DFNA9) resulting in a p.Q110K substitution and a deletion c. 2814_2815delAA in MYO6 (DFNA22) causing a frameshift alteration p.R939Tfs*2. The pathogenicity of novel coding variants in ADNSHL genes was carefully evaluated by analysis of co-segregation with phenotype in the pedigree and in light of established genotype-phenotype correlations. The frameshift deletion in MYO6 was confirmed as the causative variant for this pedigree, whereas the missense mutation in COCH had no clinical significance. The results allowed us to retrospectively identify the phenocopy in one patient that contributed to the negative finding in the linkage scan. Our clinical data also supported the emerging genotype-phenotype correlation for DFNA22.

  8. Next-generation sequencing identifies novel mutations in the FBN1 gene for two Chinese families with Marfan syndrome.

    Science.gov (United States)

    Ma, Mingjia; Li, Zongzhe; Wang, Dao Wen; Wei, Xiang

    2016-07-01

    Marfan syndrome (MFS) is an autosomal dominant heterogeneous disorder of connective tissue characterized by the early development of thoracic aneurysms/dissections, together with defects of the ocular and skeletal systems. Loss-of-function mutations in fibrillin-1 (FBN1) encoded by the gene, FBN1 (MFS‑1), and in the transforming growth factor β receptor 2 (TGFBR2) gene, TGFBR2 (MFS‑2), are major causes of this disorder. In the present study, a rapid and cost‑effective method for genetically diagnosing MFS was described and used to identify disease‑causing mutations in two unrelated pedigrees with MFS in mainland China. Using targeted semiconductor sequencing, two pathogenic mutations in four MFS patients of the two pedigrees were identified, including a novel frameshift insertion, p.G2120fsX2160, and a reported nonsense mutation, p.Arg529X (rs137854476), in the FBN1 gene. In addition, a rare, probably benign Chinese‑specific polymorphism in the FBN1 gene was also revealed. PMID:27175573

  9. Differences between Chinese and Western Family Education

    Institute of Scientific and Technical Information of China (English)

    严文利

    2015-01-01

    Family education is elementary and important for children.Because of different culture,China and other western countries have different family education.This paper mainly analyzes these differences in three aspects:values of family education,ways of family education and influences of family education.In the end,it provides some suggestions for improving Chinese family education.

  10. A View of the Chinese Family.

    Science.gov (United States)

    Hallman, Patsy

    1985-01-01

    Describes the current state of and the effect of new policies on Chinese families, in terms of marriage, family planning, housing, income, lifestyle, food practices, clothing, health care, education, religion, status of women, and retirement. (SK)

  11. Chinese Adolescents' Influence on Family Decision Making

    OpenAIRE

    He, Shushi

    2008-01-01

    The purpose of this study is to investigate Chinese adolescents' influence on family decision making regarding on the effect of children's characteristics including academic performance, product knowledge and financial saving. The concept of value alignment is initially introduced to the family decision making since it greatly concerns on the Chinese culture. It is assumed that China's only children would have more influence on the decision making of high-end electronic goods when they align ...

  12. Celebrating Spring Festival with a Chinese Family

    Institute of Scientific and Technical Information of China (English)

    2012-01-01

    Bring gifts The nice thing about visiting Chinese families is that while k is polite to bring gifts, generic gifts are expected and even welcome. You don't have to go overboard, nor do you have to spend a lot of time picking out something personal for each family member. A gift box of inseason fruit, a carton of cigarettes,

  13. Chinese Family Problems: Research and Trends.

    Science.gov (United States)

    Zhangling, Wei

    1983-01-01

    Discusses family life in China, which has undergone several dramatic changes including raising of the legal marriage age, less restrictions on divorce, and official promotion of family planning. Because these policies and practices conflict with Chinese traditions, inevitable problems have arisen. (JAC)

  14. Clinical and genetic analysis of two Chinese families with benign familial neonatal convulsions

    Institute of Scientific and Technical Information of China (English)

    LI Haiyan; TANG Beisha; XIA Kun; CAO Guifang; SHEN Lu; JIANG Hong; PAN Qian; SONG Yanmin; CAI Fang

    2005-01-01

    Benign familial neonatal convulsions (BFNC) is a rare autosomal dominant inherited epilepsy syndrome. Two voltagegated potassium channel genes, KCNQ2 and KCNQ3, have been identified as the genes responsible for BFNC. Here we report two Chinese families with clinical histories of typical BFNC. Using six microsatellite markers, two located at KCNQ2 locus and four at KCNQ3 locus, linkage analysis was performed in the two families, which excluded the linkage of BFNC to KCNQ3, but could not exclude the linkage to KCNQ2. Direct DNA sequencing of the KCNQ2 gene in the two families was performed, and two formerly unknown polymorphisms were identified, but no KCNQ2 mutation was found in the two families. Our study suggests the genetic heterogeneity in Chinese families with BFNC and proves the existence of a new gene locus for BFNC.

  15. The Influence of Confucianism on Traditional Chinese Families

    Institute of Scientific and Technical Information of China (English)

    王晓玲

    2007-01-01

    Since the time Confucianism was generally accepted by the Chinese populace in the Han Dynasty(2nd century B.C. ), it has become an integral part of Chinese society and what it means to be Chinese. Three aspects of traditional Chinese family under the influence of Confucianism are observed: the family and the state,positional role behavior and ancestor worship.

  16. Hereditary Transthyretin Amyloidosis in Eight Chinese Families

    OpenAIRE

    Ling-Chao Meng; He Lyu; Wei Zhang; Jing Liu; Zhao-Xia Wang; Yun Yuan

    2015-01-01

    Background: Mutations of transthyretin (TTR) cause the most common type of autosomal-dominant hereditary systemic amyloidosis, which occurs worldwide. To date, more and more mutations in the TTR gene have been reported. Some variations in the clinical presentation are often observed in patients with the same mutation or the patients in the same family. The purpose of this study was to find out the clinicopathologic and genetic features of Chinese patients with hereditary TTR amyloidosis. ...

  17. Interaction between Chinese Family Business and Cultural Differences in Malaysia

    OpenAIRE

    Iskandar Hasan Tan Abdullah; Muhammad Syahmizan Azmi; Sakinah Mat Zin; Lim Soo Chee; Nur Azuki Yusoff

    2014-01-01

    Family business inheritance among the Chinese community is a tradition that is known by the business community worldwide. Thus, a family business among the Chinese community in Malaysia is common. In fact, the inheritance of this business provides a unique and exciting dimension to be investigated. The paper explores the empirical evaluation on the influence of family business inheritance among the Chinese; who managed to overcome obstacles and conflicts through discussions and negotiations. ...

  18. Perception of Early Intervention Family Outcome: Inside Chinese-American Families Having Children with Disabilities

    Science.gov (United States)

    Wu, Pei-Fang Rachel

    2009-01-01

    This study seeks to determine whether Chinese-American Families having a child with disabilities experience different needs and expected early intervention family outcomes from families from the mainstream culture. The Researcher used different qualitative research techniques to examine Chinese-American Families who have children with…

  19. FLCN intragenic deletions in Chinese familial primary spontaneous pneumothorax.

    Science.gov (United States)

    Ding, Yibing; Zhu, Chengchu; Zou, Wei; Ma, Dehua; Min, Haiyan; Chen, Baofu; Ye, Minhua; Pan, Yanqing; Cao, Lei; Wan, Yueming; Zhang, Wenwen; Meng, Lulu; Mei, Yuna; Yang, Chi; Chen, Shilin; Gao, Qian; Yi, Long

    2015-05-01

    Primary spontaneous pneumothorax (PSP) is a significant clinical problem, affecting tens of thousands patients annually. Germline mutations in the FLCN gene have been implicated in etiology of familial PSP (FPSP). Most of the currently identified FLCN mutations are small indels or point mutations that detected by Sanger sequencing. The aim of this study was to determine large FLCN deletions in PSP families that having no FLCN sequence-mutations. Multiplex ligation-dependent probe amplification (MLPA) assays and breakpoint analyses were used to detect and characterize the deletions. Three heterozygous FLCN intragenic deletions were identified in nine unrelated Chinese families including the exons 1-3 deletion in two families, the exons 9-14 deletion in five families and the exon 14 deletion in two families. All deletion breakpoints are located in Alu repeats. A 5.5 Mb disease haplotype shared in the five families with exons 9-14 deletion may date the appearance of this deletion back to approximately 16 generations ago. Evidences for founder effects of the other two deletions were also observed. This report documents the first identification of founder mutations in FLCN, as well as expands mutation spectrum of the gene. Our findings strengthen the view that MLPA analysis for intragenic deletions/duplications, as an important genetic testing complementary to DNA sequencing, should be used for clinical molecular diagnosis in FPSP.

  20. Chinese American Family Food Systems: Impact of Western Influences

    Science.gov (United States)

    Lv, Nan; Brown, J. Lynne

    2010-01-01

    Objective: To investigate the family food system in first-generation Chinese American families. Design: Qualitative interviews using reciprocal determinism constructs to understand influences on food choices. Setting: Weekend Chinese schools in Pennsylvania. Participants: Twenty couples with at least 1 child aged 5 or older enrolled in a Chinese…

  1. Familial correlation of retinal vascular caliber in Singapore Chinese

    NARCIS (Netherlands)

    L.-J. Li (Ling-Jun); J. Liao (Jie); Q. Fan (Qiao); C.Y.-L. Cheung (Carol Yim-Lui); M.K. Ikram (Kamran); C-Y. Cheng (Ching-Yu); S-M. Saw (Seang-Mei); T.Y. Wong (Tien)

    2013-01-01

    textabstractPurpose. Our study aimed to explore the heritability of retinal vascular caliber among Singapore Chinese families. Methods. In the Strabismus, Amblyopia, and Refractive Error Study in Singaporean Chinese Preschoolers (STARS) family study conducted from 2008 to 2010, a total of 727 partic

  2. Mutation screening of three Chinese families with genetic epilepsy with febrile seizures plus.

    Science.gov (United States)

    Lin, Hua; Li, Jingyun; Wang, Mengyang; Wang, Zheng; Wang, Yuping; Wu, Liwen

    2011-08-15

    Genetic epilepsy with febrile seizures plus (GEFS+) is a familial autosomal dominant condition characterized by genetic heterogeneity. Five genes for GEFS+ identified in large families account for only a small proportion of families. Mutation in the majority of families with GEFS+ has not identified yet. The aim of our study is to search for the gene responsible for GEFS+ in three Chinese families by linkage analyses and a sequencing approach and to investigate the importance of coding and noncoding regions variations of four known GEFS+ genes (SCN1A, SCN1B, GABRG2 and SCN2A) in Chinese families. Results showed that a 6-cM candidate interval at 5q33-34 with a maximum LOD scores of 2.043 was identified in families B. Sequencing candidate gene GABRG2 and GABRA1 in this region did not identify a causative mutation. Moreover, no mutation was found in coding and noncoding regions of the four genes in three Chinese families. Besides excluding coding regions of four known GEFS+ genes, we also excluded the possibility of a mutation in the promoter, exon-intron boundaries, 5' untranslated regions (5' UTRs), and 3' UTRs of four known GEFS+ genes in three Chinese families. In conclusion, the present study demonstrates the heterogeneity of the etiologies of GEFS+. There are as yet undiscovered mechanisms underlying GEFS+. PMID:21704126

  3. Clinical characteristics and analysis of familial oral lichen planus in eight Chinese families

    Science.gov (United States)

    Lu, Shu-Lai; Qi, Xiang-Min; Dong, Gang; Chen, Shu-Lan; Guo, Da-Wei; Wang, Yun-Long; Yang, Pi-Shan

    2016-01-01

    Oral lichen planus (OLP) is one of the most common oral mucosa diseases; however, familial OLP is uncommon. The present study reported and analyzed patients with familial OLP (n=18) in eight different Chinese families between January 1, 2012 and December 31, 2013. Parameters analyzed include gender, age at diagnosis, lesion distribution and lesion type. The follow-up period for each patient was a minimum of 1 year. In this survey, 18/88 individuals in the eight families were affected. Females were more frequently affected, and the female to male ratio for familial OLP (2.2:1) was higher compared with that previously reported for nonfamilial OLP (1.4:1). The age at diagnosis, lesion distribution and lesion type showed consistency with reports concerning nonfamilial OLP, with the exception of family VI, in which 4/5 children had OLP/LP lesions and were of an early age at diagnosis. There were two families in which three generations had been affected by OLP. In addition, it appeared that patients of the same generation in the same family were of a similar age at diagnosis. No malignant or premalignant lesion was identified in the 18 individuals diagnosed with OLP from the eight families. The present study supports the hypothesis that genetic predisposition may serve a role in the etiology of OLP.

  4. Candidate colorectal cancer predisposing gene variants in Chinese early-onset and familial cases

    NARCIS (Netherlands)

    Zhang, J.X.; Fu, L.; Voer, R.M. de; Hahn, M.M.; Jin, P.; Lv, C.X.; Verwiel, E.T.; Ligtenberg, M.J.L.; Hoogerbrugge, N.; Kuiper, R.P.; Sheng, J.Q.; Geurts van Kessel, A.H.M.

    2015-01-01

    AIM: To investigate whether whole-exome sequencing may serve as an efficient method to identify known or novel colorectal cancer (CRC) predisposing genes in early-onset or familial CRC cases. METHODS: We performed whole-exome sequencing in 23 Chinese patients from 21 families with non-polyposis CRC

  5. A Chinese Longitudinal Study on Work/Family Enrichment

    Science.gov (United States)

    Lu, Luo

    2011-01-01

    Purpose: The purpose of this paper is to explore reciprocal relationships between work/family resources, work/family enrichment (WFE), and work/family satisfaction in a Chinese society. Design/methodology/approach: A longitudinal design was adopted using a three-wave panel sample. Data were obtained from 310 Taiwanese employees on three occasions,…

  6. Hereditary Transthyretin Amyloidosis in Eight Chinese Families

    Institute of Scientific and Technical Information of China (English)

    Ling-Chao Meng; He Lyu; Wei Zhang; Jing Liu; Zhao-Xia Wang; Yun Yuan

    2015-01-01

    Background:Mutations of transthyretin (TTR) cause the most common type of autosomal-dominant hereditary systemic amyloidosis,which occurs worldwide.To date,more and more mutations in the TTR gene have been reported.Some variations in the clinical presentation are often observed in patients with the same mutation or the patients in the same family.The purpose of this study was to find out the clinicopathologic and genetic features of Chinese patients with hereditary TTR amyloidosis.Methods:Clinical and necessary examination materials were collected from nine patients of eight families with hereditary TTR amyloidosis at Peking University First Hospital from January 2007 to November 2014.Sural nerve biopsies were taken for eight patients and skin biopsies were taken in the calf/upper arm for two patients,for light and electron microscopy examination.The TTR genes from the nine patients were analyzed.Results:The onset age varied from 23 to 68 years.The main manifestations were paresthesia,proximal and/or distal weakness,autonomic dysfunction,cardiomyopathy,vitreous opacity,hearing loss,and glossohypertrophia.Nerve biopsy demonstrated severe loss ofmyelinated fibers in seven cases and amyloid deposits in three.One patient had skin amyloid deposits which were revealed from electron microscopic examination.Genetic analysis showed six kinds of mutations of TTR gene,including Val30Met,Phe33Leu,Ala36Pro,Val30Ala,Phe33Val,and Glu42Gly in exon 2.Conclusions:Since the pathological examinations of sural nerve were negative for amyloid deposition in most patients,the screening for TTR mutations should be performed in all the adult patients,who are clinically suspected with hereditary TTR amyloidosis.

  7. Hereditary Transthyretin Amyloidosis in Eight Chinese Families

    Directory of Open Access Journals (Sweden)

    Ling-Chao Meng

    2015-01-01

    Full Text Available Background: Mutations of transthyretin (TTR cause the most common type of autosomal-dominant hereditary systemic amyloidosis, which occurs worldwide. To date, more and more mutations in the TTR gene have been reported. Some variations in the clinical presentation are often observed in patients with the same mutation or the patients in the same family. The purpose of this study was to find out the clinicopathologic and genetic features of Chinese patients with hereditary TTR amyloidosis. Methods: Clinical and necessary examination materials were collected from nine patients of eight families with hereditary TTR amyloidosis at Peking University First Hospital from January 2007 to November 2014. Sural nerve biopsies were taken for eight patients and skin biopsies were taken in the calf/upper arm for two patients, for light and electron microscopy examination. The TTR genes from the nine patients were analyzed. Results: The onset age varied from 23 to 68 years. The main manifestations were paresthesia, proximal and/or distal weakness, autonomic dysfunction, cardiomyopathy, vitreous opacity, hearing loss, and glossohypertrophia. Nerve biopsy demonstrated severe loss of myelinated fibers in seven cases and amyloid deposits in three. One patient had skin amyloid deposits which were revealed from electron microscopic examination. Genetic analysis showed six kinds of mutations of TTR gene, including Val30Met, Phe33Leu, Ala36Pro, Val30Ala, Phe33Val, and Glu42Gly in exon 2. Conclusions: Since the pathological examinations of sural nerve were negative for amyloid deposition in most patients, the screening for TTR mutations should be performed in all the adult patients, who are clinically suspected with hereditary TTR amyloidosis.

  8. A novel missense mutation, GGC(Arg454)→TGC(Cys), of CYP11B1 gene identified in a Chinese family with steroid 11β-hydroxylase deficiency

    Institute of Scientific and Technical Information of China (English)

    YE Zheng-qin; ZHANG Man-na; ZHANG Hui-jie; JIANG Jing-jing; LI Xiao-ying; ZHANG Ke-qin

    2010-01-01

    Background Steroid 11β-hydroxylase deficiency (11β-OHD), an autosomal recessive inherited disease, accounts for 5%-8% of congenital adrenal hyperplasia.It was scarcely reported in China.This article reports two Chinese girls with 11β-OHD.Methods The two patients were sisters and presented with hypertrichosis, skin pigmentation, laryngeal prominence and virilization of external genitalia.The patients were followed up for their clinical symptoms and signs, hormone profile,and adrenal image.The genomic deoxyribonucleic acids of the patients and their parents were isolated.11β-hydroxylase gene (CYP11B1) was amplified by polymerase chain reaction and directly sequenced.Results Hormone tests showed that serum cortisol was in the low limit of normal range, whereas the concentrations of adrenocorticotropic hormone, testosterone and progesterone were much higher than those of normal adult females.There were obvious adrenal hyperplasia and advance of bone age.After 11 months of treatment with dexamethasone,the skin pigment became regressed; the breast, uterus and ovary gradually developed and normal menstrual cycle started while the manifestations of virilization did not change.A single point mutation of CYP11B1 (R454C, GGC → TGC)in all the members of this family was detected.The sisters were homozygous and their parents were heterozygous.Conclusions The clinical manifestation of 11β-OHD is complicated.The manifestation of virilization could not regress after treatment with dexamethasone.The novel missense mutation of CYP11B1 (R454C, GGC → TGC) is the pathogenesis of 11β-OHD at least in some Chinese patients.

  9. The Ties That Bind. The Chinese American Family in Transnational Chinese Cinema

    NARCIS (Netherlands)

    Han, Q.

    2014-01-01

    The primary research question raised in the thesis is how have films been able to construct the identity of ethnic Chinese in the United States? This question is addressed through three sub-questions. First, why is the family narrative so characteristic of films about Chinese Americans in transnatio

  10. Association analyses identify six new psoriasis susceptibility loci in the Chinese population

    OpenAIRE

    Sun, Liang-Dan; Cheng, Hui; Wang, Zai-Xing; Zhang, An-Ping; Wang, Pei-Guang; Xu, Jin-Hua; Zhu, Qi-Xing; Zhou, Hai-Sheng; Buchert, Eva; Zhang, Fu-Ren; Pu, Xiong-Ming; Yang, Xue-Qin; Zhang, Jian-Zhong; Xu, Ai-E; Wu, Ri-Na

    2010-01-01

    We extended our previous GWAS for psoriasis with a a multistage replication study including 8,312 cases and 12,919 controls from China as well as 3,293 cases, 4,188 controls from Germany and the USA, and 254 nuclear families from the USA. We identified 6 new susceptibility loci associated to psoriasis in Chinese, containing candidate genes ERAP1, PTTG1, CSMD1, GJB2, SERPINB8, ZNF816A (PCombined

  11. Factor V Leiden mutation in one family of Chinese origin

    Institute of Scientific and Technical Information of China (English)

    吴竞生; 汪建; 孙自敏; 顾建民; 徐俊

    2001-01-01

    目的研究中国人FVLeiden基因突变引起的抗活化蛋白C现象(APCR)。方法采用APTT±APC方法、多聚酶链反应(PCR)、MnLI限制性内切酶分析,序列特异性引物(PCR-SSP) 和DNA测序方法,对中国汉族30例“正常”无关个体和20例血栓性疾病患者进行APCR测定和FVLeiden 基因突变分析。 结果发现一例正常人抗APC敏感值比值(APC-SR)明显减低(0.8),并确诊为FVLeiden基因(Arg506- Gln)突变杂合子,其叔祖父、父亲、弟弟和儿子同样确定为FVLeiden基因杂合子;有3例血栓性疾病患者 APC-SR低于正常,但均无FVLeiden基因突变。 结论这是在国内发现的首例四代FVLeiden突变所致的APCR现象的家系。中国人血栓症中APCR的产 生是否导致其它未知的基因缺陷,尚待进一步研究。%Objective To investigate the factor V Leiden mutation associatedwith activated protein C resistance (APCR) in Chinese. Methods Thirty “normal" individuals and twenty patients with thrombotic disease from Chinese Han Nationality were studied with APTT±APC, PCR followed by MnLI restriction enzyme analysis,PCR based direct sequence-specific primers (PCR-SSP) and DNA sequence analysis. Results In one healthy control, the activated protein C (APC) sensitivity ratio (SR) was found to be significantly lower (0.8) than that in other normal control (>2.0). This individual was identified to be heterozygous for FV Leiden mutaiton (Arg506-Gln). His grand-uncle, father, brother and son were also identified to be heterozygous for FV Leiden. The APC resistance was found in 3 other cases of thrombotice diseases, but with no FV Leiden mutation. Conclusion This is the first four generations family case of FV Leiden mutation associated with APCR reported within Chinese ethnic population. It is note-worthy that more FV Leiden or whether other gene defects may be associated with APC resistance and acquired APCR causing thrombosis in Chinese population.

  12. Early Predictors of Dyslexia in Chinese Children: Familial History of Dyslexia, Language Delay, and Cognitive Profiles

    Science.gov (United States)

    McBride-Chang, Catherine; Lam, Fanny; Lam, Catherine; Chan, Becky; Fong, Cathy Y. C.; Wong, Terry T. Y.; Wong, Simpson W. L.

    2011-01-01

    Background: This work tested the rates at which Chinese children with either language delay or familial history of dyslexia at age 5 manifested dyslexia at age 7, identified which cognitive skills at age 5 best distinguished children with and without dyslexia at age 7, and examined how these early abilities predicted subsequent literacy skills.…

  13. Two novel mutations of the LDL receptor gene associated with familial hypercholesterolemia in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    XIE Li; GONG Qi-hua; XIE Zhi-guo; LIANG Zong-min; HU Zheng-mao; XIA Kun; XIA Jia-hui; YANG Yi-feng

    2007-01-01

    Background Familial hypercholesterolemia (FH) is a type of dominant autosomal disease that causes high levels of plasma low-density lipoprotein cholesterol (LDL-C). In the past years, molecular data related to FH were limited in China.Now, to gain more information about FH, we analyzed one proband with a severe FH phenotype as well as his relatives.Methods After the entire coding sequence and the intron-exon junctions of the low-density lipoprotein receptor (LDLR)gene were amplified using PCR, we sequenced the LDLR gene of a Chinese FH family. RT-PCR was used to detect changes in the mRNA.Results Two novel mutations were identified in the LDLR gene of this family. One, W165X, was a G>A substitution at the third nucleotide of codon 165. The other, IVS5-1G>A, was also a G>A substitution at the acceptor splice site of intron 5. The most striking discovery is that the proband was heterozygous for W165X but homozygous for IVS5-1G>A. The cDNA sequencing showed that the IVS5-1G>A mutation caused the insertion of 10 nucleotides, namely GCTCTCACAA,between exon 5 and exon 6.Conclusions The two nucleotide variations are thought to be the FH-causing mutations because the co-segregation of the mutant allele with the phenotype of FH has been shown in this Chinese family. These data show an increase in the mutational spectrum of FH in China and verify a scarce mutational form in the LDLR gene.

  14. Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita

    Directory of Open Access Journals (Sweden)

    Gao Feng

    2010-12-01

    Full Text Available Myotonia congenita (MC is a genetic disease characterized by mutations in the muscle chloride channel gene (CLCN1. To date, approximately 130 different mutations on the CLCN1 gene have been identified. However, most of the studies have focused on Caucasians, and reports on CLCN1 mutations in Chinese population are rare. This study investigated the mutation of CLCN1 in two Chinese families with MC. Direct sequencing of the CLCN1 gene revealed a heterozygous mutation (892G>A, resulting in A298T in one family and a compound heterozygous mutations (782A>G, resulting in Y261C; 1679T>C, resulting in M560T in the other family, None of the 100 normal controls had these mutations. Our findings add more to the available information on the CLCN1 mutation spectrum, and provide a valuable reference for studying the mutation types and inheritance pattern of CLCN1 in the Chinese population.

  15. Knowledge sharing in Chinese hospitals identifying sharing barriers in traditional Chinese and Western medicine collaboration

    CERN Document Server

    Zhou, Lihong

    2015-01-01

    This book aims to identify, understand and qualify barriers to the patient-centred knowledge sharing (KS) in interprofessional practice of Traditional Chinese Medicine (TCM) and Western Medicine (WM) healthcare professionals in Chinese hospitals.  This collaboration is particularly crucial and unique to China since, contrary to Western practice, these two types of professionals actually work together complimentary in the same hospital. This study adopted a Grounded Theory approach as the overarching methodology to guide the analysis of the data collected in a single case-study design.  A public hospital in central China was selected as the case-study site, at which 49 informants were interviewed by using semi-structured and evolving interview scripts.  The research findings point to five categories of KS barriers: contextual influences, hospital management, philosophical divergence, Chinese healthcare education and interprofessional training.  Further conceptualising the research findings, it is identifie...

  16. Acculturative Family Distancing (AFD) and Depression in Chinese American Families

    Science.gov (United States)

    Hwang, Wei-Chin; Wood, Jeffrey J.; Fujimoto, Ken

    2010-01-01

    Objective: Knowledge of acculturative processes and their impact on immigrant families remains quite limited. Acculturative family distancing (AFD) is the distancing that occurs between immigrant parents and their children and is caused by breakdowns in communication and cultural value differences. It is a more proximal and problem-focused…

  17. A novel mitochondrial tRNA gene mutation in a chinese family with dilated cardiomyopathy and sensorineural deafness

    Institute of Scientific and Technical Information of China (English)

    Xianghong Wu; Xiumei Xie; Guotian Ma; Guoju Sun; Xiaobin Chen

    2006-01-01

    Objective: To determine whether a mutation of mitochondrial DNA induces familial dilated cardiomyopathy in Chinese families with cardiomyopathy, and analyzed the correlation between the genotype and phenotype. Methods: Affected members in three Chinese families of the familial dilated cardiomyopathy underwent clinical evaluation and DNA analysis. Polymerase chain reaction and direct DNA sequencing were used to screen for mitochondrial DNA mutation. The type of mtDNA vairations and clinical situation were analysed on the patients with mitochondrial DNA mutation. Results: The mitochondrial A3434G mutation was identified in one of the three families,the 3434 th nucleotide A was replaced by G, which led to change of amino acid. No mutations were identified in the clinically unaffected members of the family and all members of the other two families.Conclusion: This study indicates that the mitochondrial A3434G mutation maybe related with familial dilated cardiomyopathy and deafness.

  18. Inferring gene family histories in yeast identifies lineage specific expansions.

    Directory of Open Access Journals (Sweden)

    Ryan M Ames

    Full Text Available The complement of genes found in the genome is a balance between gene gain and gene loss. Knowledge of the specific genes that are gained and lost over evolutionary time allows an understanding of the evolution of biological functions. Here we use new evolutionary models to infer gene family histories across complete yeast genomes; these models allow us to estimate the relative genome-wide rates of gene birth, death, innovation and extinction (loss of an entire family for the first time. We show that the rates of gene family evolution vary both between gene families and between species. We are also able to identify those families that have experienced rapid lineage specific expansion/contraction and show that these families are enriched for specific functions. Moreover, we find that families with specific functions are repeatedly expanded in multiple species, suggesting the presence of common adaptations and that these family expansions/contractions are not random. Additionally, we identify potential specialisations, unique to specific species, in the functions of lineage specific expanded families. These results suggest that an important mechanism in the evolution of genome content is the presence of lineage-specific gene family changes.

  19. Gene mapping of autosomal dominant retinitis pigmentosa in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    DAI Li-li; SUN Da-wei; WANG Zheng; FU Song-bin; HUANG Shang-zhi; ZHANG Zhong-yu; ZENG Guang; PENG Shao-min

    2009-01-01

    Background The autosomal dominant form of retinitis pigmentosa (ADRP) can be caused by mutations in 14 genes and further loci remains to be identified. This study was intended to identify mutations in a Chinese pedigree with ADRP. Methods A large Chinese family with retinitis pigmentosa was collected. The genetic analysis of the family suggested an autosomal dominant pattern. Microsatellite (STR) markers tightly linked to genes known to be responsible for ADRP were selected for linkage analysis. Exons along with adjacent splice junctions of PRPF31 were amplified by polymerase chain reaction (PCR) and screened by direct sequencing.Results The caused gene of ADRP was mapped to 19q13.4 between markers D19S572 and D19S877, with a maximum LOD score of 3.01 at marker D19S418 (recombination fraction=0).Conclusion The affected gene linked to the 19q13.4 in a Chinese family with ADRP, which is different from other mutations at the same loci in other Chinese families.

  20. Three novel PHEX gene mutations in four Chinese families with X-linked dominant hypophosphatemic rickets

    Energy Technology Data Exchange (ETDEWEB)

    Kang, Qing-lin [Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Xu, Jia [Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Medical College of Soochow University, Suzhou, Jiangsu province 215000 (China); Zhang, Zeng [Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); He, Jin-wei [Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Lu, Lian-song [Department of Orthopedic Surgery, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Medical College of Soochow University, Suzhou, Jiangsu province 215000 (China); Fu, Wen-zhen [Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China); Zhang, Zhen-lin, E-mail: zzl2002@medmail.com.cn [Metabolic Bone Disease and Genetic Research Unit, Department of Osteoporosis and Bone Diseases, Shanghai Jiao Tong University Affiliated Sixth People' s Hospital, Shanghai 200233 (China)

    2012-07-13

    Highlights: Black-Right-Pointing-Pointer In our study, all of the patients were of Han Chinese ethnicity, which were rarely reported. Black-Right-Pointing-Pointer We identified three novel PHEX gene mutations in four unrelated families with XLH. Black-Right-Pointing-Pointer We found that the relationship between the phenotype and genotype of the PHEX gene was not invariant. Black-Right-Pointing-Pointer We found that two PHEX gene sites, p.534 and p.731, were conserved. -- Abstract: Background: X-linked hypophosphatemia (XLH), the most common form of inherited rickets, is a dominant disorder that is characterized by renal phosphate wasting with hypophosphatemia, abnormal bone mineralization, short stature, and rachitic manifestations. The related gene with inactivating mutations associated with XLH has been identified as PHEX, which is a phosphate-regulating gene with homologies to endopeptidases on the X chromosome. In this study, a variety of PHEX mutations were identified in four Chinese families with XLH. Methods: We investigated four unrelated Chinese families who exhibited typical features of XLH by using PCR to analyze mutations that were then sequenced. The laboratory and radiological investigations were conducted simultaneously. Results: Three novel mutations were found in these four families: one frameshift mutation, c.2033dupT in exon 20, resulting in p.T679H; one nonsense mutation, c.1294A > T in exon 11, resulting in p.K432X; and one missense mutation, c.2192T > C in exon 22, resulting in p.F731S. Conclusions: We found that the PHEX gene mutations were responsible for XLH in these Chinese families. Our findings are useful for understanding the genetic basis of Chinese patients with XLH.

  1. How to Apply Family Education in Little Women to Chinese Families

    Institute of Scientific and Technical Information of China (English)

    李娜

    2014-01-01

    In recent years in China, family education has become more and more important. Family plays the most crucial role in children's education. So more and more parents begin to pay much more attention to family education than before. However, what ways are best for them to use? Most parents have no idea at all and some are trying to use some education methods learned from books. Little Women is a book from which we can learn a lot of useful things, the obvious one is family education. This novel was written by an American author in 19th century. As a result, both time and place are a little far away from people in China. But at that time, the March's family education did work very well and made far-reaching influence. So in the first part in this paper what will be introduced in is about finding out how the March's family dealt with those unpleasant things, and the sec-ond part will discuss some disadvantages of Chinese family education, then the third part will see if March's ways could be used in Chinese families or how to make some changes about their ways so that those ways could work in Chinese families as well as they did in the March's.

  2. Chinese Family:Some New Trends

    Institute of Scientific and Technical Information of China (English)

    Alice Yang

    2011-01-01

    It is a familiar sight in many Chinese cities to witness a large team escorting a baby pram in public:mother,grandmothers,ayi (nanny),another ayi maybe,grandfathers quiet possible,and finally father if you are lucky.Yes,after China's implementation of “One Child Only” policy in the late of 1970s,it's the time for the baby boom generation to create another round of baby boom.The babies get so much attention and love from their 4grandparents,2 parents,and more ayis.Whilst it once was very common for grandparents to take care of the baby and toddler at home when both parents are at work,now the trend is changing slightly.

  3. Cultural influences on parental bereavement in Chinese families.

    Science.gov (United States)

    Ho, Sio-Wa; Brotherson, Sean E

    2007-01-01

    The purpose of this study was to explore the bereavement experiences of parents who had experienced the death of a child in Chinese families. In-depth interviews were conducted with 10 bereaved parents in Macau, China. Narrative accounts of Chinese parents' experience in the loss of a child were explored to understand how their connection to the deceased child and their worldview were influenced by cultural beliefs and values. Study themes related to parental connections with the deceased child included the use of object linking, memorializing acts, and avoidance of traditional funeral processes, with clear patterns of Chinese cultural influence. Additionally, themes related to impacts on parental worldview included use of the concept of fate as a rationale for child loss and influences on religious orientation. The influence of cultural beliefs and background on Chinese parents as they deal with the issue of a child's death was apparent. Further research is needed and will benefit our understanding of parental bereavement in Chinese families.

  4. Family and academic performance: identifying high school student profiles

    Directory of Open Access Journals (Sweden)

    Alicia Aleli Chaparro Caso López

    2016-01-01

    Full Text Available The objective of this study was to identify profiles of high school students, based on variables related to academic performance, socioeconomic status, cultural capital and family organization. A total of 21,724 high school students, from the five municipalities of the state of Baja California, took part. A K-means cluster analysis was performed to identify the profiles. The analyses identified two clearly-defined clusters: Cluster 1 grouped together students with high academic performance and who achieved higher scores for socioeconomic status, cultural capital and family involvement, whereas Cluster 2 brought together students with low academic achievement, and who also obtained lower scores for socioeconomic status and cultural capital, and had less family involvement. It is concluded that the family variables analyzed form student profiles that can be related to academic achievement.

  5. Intergenerational discrepancies of parental control among Chinese American families: Links to family conflict and adolescent depressive symptoms.

    Science.gov (United States)

    Juang, Linda P; Syed, Moin; Takagi, Miyuki

    2007-12-01

    This study investigated how discrepancies between adolescents' and parents' endorsement of parental control contribute to adolescent depressive symptoms. Family conflict was hypothesized to mediate the link between parent-adolescent discrepancies and depressive symptoms. The sample consisted of 166 pairs of Chinese American adolescents and their parents. The results indicated that, as predicted, greater discrepancies between adolescents and their parents on parental control related to greater adolescent depressive symptoms. Furthermore, adolescent's perceived degree of family conflict partially mediated this relation. Both parents and adolescents are changing and adapting to their cultural contexts; some in synchrony and some not. Identifying areas where parents and adolescents diverge concerning values, behaviors, and beliefs, is an important avenue to understanding Chinese American adolescents' mental health. PMID:17360033

  6. A novel splice mutation of HERG in a Chinese family with long QT syndrome

    Institute of Scientific and Technical Information of China (English)

    SHANG Yun-peng; XIE Xu-dong; WANG Xing-xiang; CHEN Jun-zhu; ZHU Jian-hua; TAO Qian-min; ZHENG Liang-rong

    2005-01-01

    Congenital long QT syndrome (LQTS) is a genetically heterogeneous disease in which six ion-channel genes have been identified. The phenotype-genotype relationships of the HERG (human ether-a-go-go-related gene) mutations are not fully understood. The objective of this study is to identify the underlying genetic basis of a Chinese family with LQTS and to characterize the clinical manifestations properties of the mutation. Single strand conformation polymorphism (SSCP) analyses were conducted on DNA fragments amplified by polymerase chain reaction from five LQT-related genes. Aberrant conformers were analyzed by DNA sequencing. A novel splice mutation in C-terminus of HERG was identified in this Chinese LQTS family,leading to the deletion of 11-bp at the acceptor splice site of Exon9 [Exon9 IVS del (-12→-2)]. The mutation might affect,through deficient splicing, the putative cyclic nucleotide binding domain (CNBD) of the HERG K+ channel. This mutation resulted in a mildly affected phenotype. Only the proband had a history of syncopes, while the other three individuals with long QT interval had no symptoms. Two other mutation carriers displayed normal phenotype. No sudden death occurred in the family. The 4 affected individuals and the two silent mutation carriers were all heterozygous for the mutation. It is the first splice mutation of HERG reported in Chinese LQTS families. Clinical data suggest that the CNBD mutation may be less malignant than mutations occurring in the pore region and be partially dominant over wild-type function.

  7. A novel DSPP mutation is associated with type II dentinogenesis Imperfecta in a chinese family

    Directory of Open Access Journals (Sweden)

    Xu Chengqi

    2007-08-01

    Full Text Available Abstract Background Hereditary defects of tooth dentin are classified into two main groups: dentin dysplasia (DD (types I and II and dentinogenesis imperfecta (DGI (types I, II, and III. Type II DGI is one of the most common tooth defects with an autosomal dominant mode of inheritance. One disease-causing gene, the dentin sialophosphoprotein (DSPP gene, has been reported for type II DGI. Methods In this study, we characterized a four-generation Chinese family with type II DGI that consists of 18 living family members, including 8 affected individuals. Linkage analysis with polymorphic markers D4S1534 and D4S414 that span the DSPP gene showed that the family is linked to DSPP. All five exons and exon-intron boundaries of DSPP were sequenced in members of type II DGI family. Results Direct DNA sequence analysis identified a novel mutation (c.49C→T, p.Pro17Ser in exon 1 of the DSPP gene. The mutation spot, the Pro17 residue, is the second amino acid of the mature DSP protein, and highly conserved during evolution. The mutation was identified in all affected individuals, but not in normal family members and 100 controls. Conclusion These results suggest that mutation p.Pro17Ser causes type II DGI in the Chinese family. This study identifies a novel mutation in the DSPP gene, and expands the spectrum of mutations that cause DGI.

  8. Family and social environmental factors associated with aggression among Chinese adolescents.

    Science.gov (United States)

    Dou, Chunxia; Wei, Zhen; Jin, Ke; Wang, He; Wang, Xiulan; Peng, Ziwen

    2015-09-01

    Family and school environments are assumed to be associated with and influence aggressive behaviors. However, which specific risk factors within these environments that are associated with aggressive behavior are unclear. The goal of this study is to identify family and social environmental qualities that are related to aggression among Chinese adolescents. Survey data were obtained from 3,213 randomly selected urban high school students ages 10 through 18 in southern China. Lower parental attachment, higher family income, mother's higher education levels, father's parenting goals, rough or changeable parenting styles, unsuitable peer relationships, and inadequate social atmospheres at school serve as risk factors for aggression among Chinese adolescents. Our findings provide some implications for understanding aggression among adolescents and suggests possible interventions to help overcome potential environmental risk factors and thus to prevent aggressive behavior in school. PMID:25496506

  9. Getting over the Patriarchal Barriers: Women's Management of Men's Smoking in Chinese Families

    Science.gov (United States)

    Mao, Aimei

    2015-01-01

    Chinese family is a patriarchal power system. How the system influences young mothers' agency in managing family men's smoking is unknown. Applying a gender lens, this ethnographic study explored how mothers of young children in Chinese extended families reacted to men's smoking. The study sample included 29 participants from 22 families.…

  10. Chinese Immigrant Families and Bilingualism among Young Children

    Science.gov (United States)

    Honig, Alice Sterling; Xu, Yili

    2012-01-01

    Thirty-five children (17 boys and 18 girls, 4 to 8 years old) in 2-parent Chinese immigrant families had attended English-speaking facilities for 35.0 months (boys) and 32.9 months (girls), respectively. They were tested at home with the Peabody Picture Vocabulary Test-Revised (PPVT-R) and the Mandarin version of PPVT-R. No gender differences were…

  11. Management and process structure in Chinese Family Firms

    Institute of Scientific and Technical Information of China (English)

    Pan Lingling

    2010-01-01

    In current situation, the management and process structure in Chinese family finns is lack of complete set of rules and sys-tems, low on its specialization level, and informal management. Leadership is another vital influences in family finns. The large power distance make employees hesitate to openly challenge their leaders. Employees and external persons are not able to share any decision - making proces-ses. The finn' s owner makes most of the decisions. Even in management control, it is hard to make objective assessments of employee per-formance.

  12. Clinical and genetic characteristics of Chinese hereditary nonpolyposis colorectal cancer families

    Institute of Scientific and Technical Information of China (English)

    Xu-Lin Wang; Ying Yuan; Su-Zhan Zhang; Shan-Rong Cai; Yan-Qin Huang; Qiang Jiang; Shu Zheng

    2006-01-01

    AIM: To analyze the clinical characteristics of Chinese hereditary nonpolyposis colorectal cancer (HNPCC) families and to screen the germline mutations of human mismatch repair genes hMLH1 and hMSH2 in the probands.METHODS: Thirty-one independent Chinese HNPCC families were collected in Zhejiang Province. All of them met Chinese HNPCC criteria. Clinical data about patient gender, site of colorectal cancer, age of onset, history of multiple colorectal cancer, associated extracolonic cancer were recorded. PCR and denaturing high performance liquid chromatography (DHPLC) were employed to screen the mutations. Sequencing analysis was used to find out the exact mutation site and characteristics of the samples showing abnormal DHPLC profiles.RESULTS: One hundred and thirty-six malignant neoplasms were found in 107 patients including 14 multiple cancers. One hundred and six of the 136 neoplasms (77.9%) were diagnosed as colorectal cancer, with an average age of onset at 48.57 ± 29.00 years. Gastric cancer was the most common extracolonic cancer (10.3%) in these families. Twenty-three different sequence variations in hMLH1 and hMSH2 genes were detected in these 17 families. Fifteen sequence variations were located in the exons, including 5 SNPs, 3 silent mutations, 3 missense mutations, 2 nonsense mutations and 2 frameshift mutations. The latter seven mutations seemed to be pathogenic.CONCLUSION: Germline mutations of hMLH1 and hMSH2 genes are identified in about one-third HNPCC kindreds fulfilling Chinese HNPCC criteria. Chinese HNPCC families have some particular clinical characteristics, such as a left-sided predominance, less synchronous or metachronous colorectal cancer, and frequent occurrence of gastric cancer.

  13. A novel mutation of the KIT gene in a Chinese family with piebaldism

    Institute of Scientific and Technical Information of China (English)

    WEN Guang-dong; ZHOU Cheng; YU Cong; DU Juan; XU Qian-xi; LIU Zheng-yi; ZHANG Jian-zhong

    2013-01-01

    Background Human piebaldism is a rare autosomal dominant condition characterized by congenital white forelock and depigmented patches of skin,typically on the forehead,anterior trunk and extremities.Mutations in the KIT gene have been proposed to be responsible for the underlying changes in this disorder.The aim of this study was to identify gene mutation in a Chinese family with piebaldism.Methods A Chinese family with piebaldism presenting with white forelock and large depigmented skin macules on the abdomen,arms and legs was collected.DNA was isolated from peripheral blood of the family members.The encoding exons with flanking intron regions of the KIT gene were analyzed by polymerase chain reactions (PCR) and direct DNA sequencing.Besides,DNA extracted from 100 ethnically matched population individuals was as controls.Results A heterozygous missense mutation c.2590T>C was identified in the patients of the family.This mutation converted a serine residue to proline (p.Ser864Pro).The mutation was not found in their unaffected family members or normal controis.Conclusion A novel missense mutation c.2590 T>C was found and it might play a significant role in the piebaldism phenotype in the family.

  14. Raising Children in Chinese Immigrant Families: Evidence from the Research Literature

    Science.gov (United States)

    Guo, Karen

    2006-01-01

    Children of Chinese culture are raised differently from children of other cultural groups. There is research evidence which contends that, regardless of where they live, the child-rearing practices within Chinese immigrant families are still influenced by Chinese traditional culture. Some studies also point out that Chinese immigrant parents…

  15. Two novel mutations of CLCN7 gene in Chinese families with autosomal dominant osteopetrosis (type II).

    Science.gov (United States)

    Zheng, Hui; Shao, Chong; Zheng, Yan; He, Jin-Wei; Fu, Wen-Zhen; Wang, Chun; Zhang, Zhen-Lin

    2016-07-01

    Autosomal dominant osteopetrosis type II (ADO-II) is a heritable bone disorder characterized by osteosclerosis, predominantly involving the spine (vertebral end-plate thickening, or rugger-jersey spine), the pelvis ("bone-within-bone" structures) and the skull base. Chloride channel 7 (CLCN7) has been reported to be the causative gene. In this study, we aimed to identify the pathogenic mutation in four Chinese families with ADO-II. All 25 exons of the CLCN7 gene, including the exon-intron boundaries, were amplified and sequenced directly in four probands from the Chinese families with ADO-II. The mutation site was then identified in other family members and 250 healthy controls. In family 1, a known missense mutation c.296A>G in exon 4 of CLCN7 was identified in the proband, resulting in a tyrosine (UAU) to cysteine (UGU) substitution at p.99 (Y99C); the mutation was also identified in his affected father. In family 2, a novel missense mutation c.865G>C in exon 10 was identified in the proband, resulting in a valine (GUC) to leucine (CUC) substitution at p.289 (V289L); the mutation was also identified in her healthy mother and sister. In family 3, a novel missense mutation c.1625C>T in exon 17 of CLCN7 was identified in the proband, resulting in an alanine (GCG) to valine (GUG) substitution at p.542 (A542V); the mutation was also identified in her father. In family 4, a hot spot, R767W (c.2299C>T, CGG>TGG), in exon 24 was found in the proband which once again proved the susceptibility of the site or the similar genetic background in different races. Moreover, two novel mutations, V289L and A542V, occurred at a highly conserved position, found by a comparison of the protein sequences from eight vertebrates, and were predicted to have a pathogenic effect by PolyPhen-2 software, which showed "probably damaging" with a score of approximately 1. These mutation sites were not identified in 250 healthy controls. Our present findings suggest that the novel missense

  16. Clinical features and linkage analysis for a Chinese family with autosomal dominant central areolar choroidal dystrophy

    Institute of Scientific and Technical Information of China (English)

    MA Kai; LIU Ning-pu; YANG Xiu-fen; HAN Cui; ZHANG Ning; XU Jun; LIU Shou-bin; LU Hal; Torkel Snellingen; WANG Ning-li

    2009-01-01

    Background A Chinese family with autosomal dominant central areolar choroidal dystrophy (CACD) was identified.The purpose of this study was to collect the clinical findings from the family and to identify the genetic entity by linkage nalysis.Methods Forty-three individuals from 3 generations of the family underwent ophthalmologic examinations, including best-corrected visual acuity, examination of the anterior segments, and inspection of the ocular fundus after pharmacologic mydriasis. Affected family members further underwent color vision test, color fundus photography,fluorescein angiography, automated perimetry, and electroretinography. The family was followed up for 30 months.Peripheral venous blood or buccal swabs were collected from each family member and genomic DNA was extracted.Linkage analysis was performed for candidate genes or loci using microsatellite markers.Results Seven family members in 3 continuous generations were diagnosed as having autosomal dominant CACD.The family showed progressive development of the disease, affecting both male and female. Age of onset of visual disturbances varied between 11 and 50 years. Phenotypic variability among affected individuals was apparent and ranged from relatively normal-appearing fundus with mild parafoveal pigment mottling to geographic atrophy of the macula. Fluorescein angiography showed hyperfluorescent parafoveal changes in early stage or well-demarcated area of chorioretinal atrophy with enhanced visibility of the residual underlying choroidal vessels in the late stage. Peripheral retina and visual fields were normal in affected individuals. Electroretinogram showed normal or mild reduction in the photopic amplitude. Eight candidate genes (STGD4, RCD1, peripherin/RDS, GUCA1A, RIMS1, UNC119, GUC Y2D, and AIPL1) and two genetic loci (4p15.2-16.3, and 17p13) were excluded to be responsible for the disease by linkage analysis.Conclusions The clinical findings of this Chinese family with CACD shared

  17. Molecular characterization of a Han Chinese family with essential hypertension.

    Science.gov (United States)

    Zhu, J F; Zhang, X; Ling, L

    2016-01-01

    Mutations in the mitochondrial genome have been found to be associated with essential hypertension. Here, we report the clinical and molecular characterization of a three-generation Han Chinese family with maternally inherited hypertension. Most strikingly, this pedigree exhibited a high penetrance of hypertension. Sequence analysis of the mitochondrial genome showed the presence of a homoplasmic T16189C mutation in the D-loop and the intergenic CO2/tRNA(Lys) 9-bp common deletion, as well as a set of polymorphisms belonging to the East Asia haplogroup B5b1. The well-known T16189C mutation, which is in the first hypervariable segment of the mitochondrial control region, is implicated to be associated with a wide range of clinical disorders. Moreover, the genetic polymorphism 9-bp common deletion is found to be associated with hepatocellular carcinoma in the Han Chinese population. Thus, the combination of T16189C mutation and the 9-bp deletion may have caused mitochondrial dysfunction and contributed to the development of essential hypertension in this Chinese family. PMID:27323027

  18. Genome-wide analysis of the SBP-box gene family in Chinese cabbage (Brassica rapa subsp. pekinensis).

    Science.gov (United States)

    Tan, Hua-Wei; Song, Xiao-Ming; Duan, Wei-Ke; Wang, Yan; Hou, Xi-Lin

    2015-11-01

    The SQUAMOSA PROMOTER BINDING PROTEIN (SBP)-box gene family contains highly conserved plant-specific transcription factors that play an important role in plant development, especially in flowering. Chinese cabbage (Brassica rapa subsp. pekinensis) is a leafy vegetable grown worldwide and is used as a model crop for research in genome duplication. The present study aimed to characterize the SBP-box transcription factor genes in Chinese cabbage. Twenty-nine SBP-box genes were identified in the Chinese cabbage genome and classified into six groups. We identified 23 orthologous and 5 co-orthologous SBP-box gene pairs between Chinese cabbage and Arabidopsis. An interaction network among these genes was constructed. Sixteen SBP-box genes were expressed more abundantly in flowers than in other tissues, suggesting their involvement in flowering. We show that the MiR156/157 family members may regulate the coding regions or 3'-UTR regions of Chinese cabbage SBP-box genes. As SBP-box genes were found to potentially participate in some plant development pathways, quantitative real-time PCR analysis was performed and showed that Chinese cabbage SBP-box genes were also sensitive to the exogenous hormones methyl jasmonic acid and salicylic acid. The SBP-box genes have undergone gene duplication and loss, evolving a more refined regulation for diverse stimulation in plant tissues. Our comprehensive genome-wide analysis provides insights into the SBP-box gene family of Chinese cabbage.

  19. Invisible and Visible Language Planning: Ideological Factors in the Family Language Policy of Chinese Immigrant Families in Quebec

    Science.gov (United States)

    Curdt-Christiansen, Xiao Lan

    2009-01-01

    This ethnographic inquiry examines how family languages policies are planned and developed in ten Chinese immigrant families in Quebec, Canada, with regard to their children's language and literacy education in three languages, Chinese, English, and French. The focus is on how multilingualism is perceived and valued, and how these three languages…

  20. In Silico Methods to Identify Exapted Transposable Element Families.

    Science.gov (United States)

    Ramsay, LeeAnn; Bourque, Guillaume

    2016-01-01

    Transposable elements (TEs) have recently been shown to have many regulatory roles within the genome. In this chapter, we will examine two in silico methods for analyzing TEs and identifying families that may have acquired such functions. The first method will look at how the overrepresentation of a repeat family in a set of genomic features can be discovered. The example situation of OCT4 binding sites originating from LTR7 TE sequences will be used to show how this method could be applied. The second method will describe how to determine if a TE family exhibits a cell type-specific expression pattern. As an example, we will look at the expression of HERV-H, an endogenous retrovirus known to act as an lncRNA in embryonic stem cells. We will use this example to demonstrate how RNA-seq data can be used to compare cell type expression of repeats.

  1. A New PKD1 Mutation Discovered in a Chinese Family with Autosomal Polycystic Kidney Disease

    Directory of Open Access Journals (Sweden)

    Zhendi Wang

    2014-04-01

    Full Text Available Background/Aims: Autosomal-dominant polycystic kidney disease (ADPKD, a heterogeneous genetic disorder characterized by massive kidney enlargement and progressive chronic kidney disease, is due to abnormal proliferation of renal tubular epithelium. ADPKD is known to be caused by mutations in PKD1 and PKD2 genes. Methods: In the present study, the mutation analysis of PKD genes was performed in a new Chinese family with ADPKD using Long-Range (LR PCR sequencing and targeted next-generation sequencing (targeted DNA-HiSeq. Results: A unique 28 bp deletion (c.12605_12632del28 in exon 46 of the PKD1 gene was identified in two affected family members by LR PCR method, but not in any unaffected relatives or unrelated controls. Higher accuracy and less missing detection presented in LR PCR method compared with targeted DNA-HiSeq. This mutation c.12605_12632del28 (p.Arg4202ProextX146 resulted in a delayed termination of amino acid code, and was highly speculated pathogenic in this ADPKD family. Moreover, this newly identified frame-shift change was compared to the PKD gene database, but no similar mutation was yet reported. Conclusion: A novel frame-shift mutation, c. 12605_12632del28, in the PKD1 gene was found in a Chinese ADPKD family. All evidence available suggested that it might be the mutation responsible for the disease in that family.

  2. Family Mastery Enhances Work Engagement in Chinese Nurses: A Cross-Lagged Analysis

    Science.gov (United States)

    Lu, Chang-qin; Siu, Oi-ling; Chen, Wei-qing; Wang, Hai-jiang

    2011-01-01

    Based on Greenhaus and Powell's (2006) theory of work-family enrichment and the job demands-resources (JD-R) model of work engagement (Bakker & Demerouti, 2008), this study focused on the family-to-work enrichment process by investigating the effect of family mastery on work engagement in a Chinese context. A sample of 279 Chinese female nurses…

  3. Family Involvement in Children's Mathematics Education Experiences: Voices of Immigrant Chinese American Students and Their Parents

    Science.gov (United States)

    Liang, Senfeng

    2013-01-01

    This study examines ways in which Chinese immigrant families are involved in their children's mathematics education, particularly focusing on how different types of families utilize different forms of capital to support their children's mathematics education. The theoretical framework defines four types of Chinese immigrant families--working…

  4. The R1947X mutation of NF1 causing autosomal dominant neurofibromatosis type 1 in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    Qinbo Yang; Changzheng Huang; Xiaoying Yang; Yinfu Feng; Qing Wang; Mugen Liu

    2008-01-01

    Neurofibromatosis type 1 is a common autosomal dominant disorder with a high rate of penetrance. It is caused by the mutation of the tumor suppressor gene NF1, which encodes neurofibromin. The main function of neurofibromin is down-regulating the biological activity of the proto-oncoprotein Ras by acting as a Ras-specific GTPase activating protein. In this study, we identified a Chinese family affected with neurofibromatosis type 1. The known gene NF1 associated with NF1 was studied by linkage analysis and by direct sequencing of the entire coding region and exon-intron boundaries of the NF1 gene. The R1947X mutation of NF1 was identified, which was co-segregated with affected individuals in the Chinese family, but not present in unaffected family members. This is the first report, which states that the R1947X mutation of NF1 may be one of reasons for neurofibromatosis type 1 in Chinese population.

  5. Exclusive gene mapping of congenital microphthalmia in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    YIN Yanan; LI Hui; YU Ping; ZHOU Qiang; ZHAO Luhang; ZHANG Ya-Ping

    2006-01-01

    Congenital microphthalmia is a developmental ocular disorder and might be caused by the mutations in the genes involved in eye development.To uncover the genetic cause in a six-generation Chinese pedigree with autosomal dominant congenital microphthalmia, we performed genescan and linkage analysis in this family. Fourteen microsatellite markers on chromosomes 3, 11, 14 and 15 were selected as genetic markers according to the five previously reported loci associated with microphthalmia (MITF, SOX2, PAX6, MCOP and NN02). The genomic DNA of each member in the pedigree was amplified with 14 pairs of fluorescence labeled primers. Genome screening and genotyping were conducted on ABI377 DNA sequencer and linkage analysis was performed with Linkage software package. All two-point LOD scores of linkage analysis between the suggested disease genes and microsatellite markers were <-2, which indicated that none of the five genes were responsible for microphthalmia in this Chinese family. Microphthalmia in this family may be caused by mutation in a new gene which is essential in eye development.

  6. Individuals are inadequate: recognizing the family-centeredness of Chinese bioethics and Chinese health system.

    Science.gov (United States)

    Li, Jun; Wang, Jue

    2012-12-01

    This paper is aimed at a critical assessment of the moral framework of the current Chinese health system from a Confucian perspective, by focusing on the debate between the individual directed approach and the family-oriented approach to a health care system. Concerned with the nature and status of the family in communal life, the paper deals with the following questions: to cope with the frailties of material life (including susceptibility to disease), what good is presupposed by human existence and flourishing; why it is the family that serves as the primary locus of bearing and realizing this unique good; and what kind of society might possess the structures necessary to achieve the good thus conceived. All these questions lead to a revision of the theory of justice required in health care, in favor of family health saving accounts as an important institutional guarantee. PMID:23175794

  7. The Influences of the Chinese Modern Family Changes on the Socialization of Children

    Science.gov (United States)

    Wang, Chenggang; Liu, Dan

    2006-01-01

    This article mainly introduces the contemporary changes in Chinese family and especially analyses the transformation of family structure and type, family housing conditions, family relationship network, the relationship between husband and wife and parenthood. In addition, it discusses the influence of family changes in the socialization of…

  8. A novel frameshift mutation in the cylindromatosis (CYLD) gene in a Chinese family with multiple familial trichoepithelioma.

    Science.gov (United States)

    Wu, J W; Xiao, S X; Huo, J; An, J G; Ren, J W

    2014-11-01

    Multiple familial trichoepithelioma (MFT) (OMIM: 601606) is an autosomal dominantly inherited disorder characterized by numerous, skin-colored papules and nodules with pilar differentiation. Recently, several mutations in the cylindromatosis (CYLD) gene have been reported in MFT. In this study, a mutation analysis of the CYLD was conducted in a Chinese pedigree of typical MFT. Affected individuals were identified through probands from Shanxi Province, China. Lesional skin biopsy of the proband revealed the typical histopathological characteristics of trichoepithelioma. Individuals belonging to five consecutive generations were similarly affected, which indicated an autosomal dominant inheritance pattern. Genomic DNA was extracted from peripheral blood lymphocytes using standard phenol/chloroform extraction method. All the coding exons (4-20) and exon-intron boundaries of the CYLD gene were amplified by polymerase chain reaction (PCR). Direct sequencing of all PCR products amplified from the complete coding regions of the CYLD gene was performed to identify mutations. Sequencing of the CYLD gene was performed in a further 100 unrelated, unaffected control individuals to exclude the possibility of polymorphism. A novel heterozygous frameshift mutation c.1169_1170delCA (p.Thr390Argfs) was identified in exon 10 of the CYLD gene in the affected family members. This mutation was also detected in unaffected family members, but not in the unrelated, healthy individuals who were also analyzed. Our study expands the database on the CYLD gene mutations in MFT and should be useful in providing genetic counseling and prenatal diagnosis for families affected by MFT.

  9. Genetic analysis of Chinese families reveals a novel truncation allele of the retinitis pigmentosa GTPase regulator gene

    Institute of Scientific and Technical Information of China (English)

    Fang; Hu; Xiang-Yun; Zeng; Lin-Lin; Liu; Yao-Ling; Luo; Yi-Ping; Jiang; Hui; Wang; Jing; Xie; Cheng-Quan; Hu; Lin; Gan; Liang; Huang

    2014-01-01

    AIM:To make comprehensive molecular diagnosis for retinitis pigmentosa(RP) patients in a consanguineous Han Chinese family using next generation sequencing based Capture-NGS screen technology.METHODS:A five-generation Han Chinese family diagnosed as non-syndromic X-linked recessive RP(XLRP) was recruited, including four affected males, four obligate female carriers and eleven unaffected family members. Capture-NGS was performed using a custom designed capture panel covers 163 known retinal disease genes including 47 RP genes, followed by the validation of detected mutation using Sanger sequencing in all recruited family members.RESULTS:Capture-NGS in one affected 47-year-old male reveals a novel mutation, c.24172418insG:p.E806 fs,in exon ORF15 of RP GTPase regulator(RPGR) gene results in a frameshift change that results in a premature stop codon and a truncated protein product. The mutation was further validated in three of four affected males and two of four female carriers but not in the other unaffected family members.CONCLUSION:We have identified a novel mutation,c.24172418insG:p.E806 fs, in a Han Chinese family with XLRP. Our findings expand the mutation spectrum of RPGR and the phenotypic spectrum of XLRP in Han Chinese families, and confirms Capture-NGS could be aneffective and economic approach for the comprehensive molecular diagnosis of RP.

  10. Mitochondrial ND6 T14502C variant may modulate the phenotypic expression of LHON-associated G11778A mutation in four Chinese families.

    Science.gov (United States)

    Zhang, Juanjuan; Zhou, Xiangtian; Zhou, Jian; Li, Chengwu; Zhao, Fuxin; Wang, Yan; Meng, Yanzi; Wang, Jiying; Yuan, Meixia; Cai, Wanshi; Tong, Yi; Sun, Yan-Hong; Yang, Li; Qu, Jia; Guan, Min-Xin

    2010-09-01

    We report here the clinical, genetic, and molecular evaluations of four Han Chinese families with Leber's hereditary optic neuropathy. Thirty-one (20 males/11 females) of 83 matrilineal relatives in these families exhibited the variable severity and age-at-onset in visual impairment. The average age-of-onset of vision loss was 22years old. Strikingly, these penetrances of visual impairment in these Chinese families were higher than those in other 11 Chinese pedigrees carrying the only ND4 G11778A mutation. Molecular analysis identified the known G11778A mutation and distinct sets of variants belonging to the Asian haplogroups M10a and M7c2. Of these, the T14502C mutation caused the substitution of a highly conserved isoleucine for valine at position 58 in ND6. This mutation has been associated with LHON in other Chinese families with very low penetrance of LHON. Thus, the deficient activities of complex I, caused by G11778A mutation, would be worsened by the T14502C mutation in these four Chinese families. As a result, mitochondrial dysfunctions would lead to the high penetrance and expressivity of visual loss in these Chinese families carrying both G11778A and T14502C mutations than other 11 Chinese families carrying only G11778A mutation. These data suggested that the T14502C variant may modulate the phenotypic manifestation of the G11778A mutation in these Chinese pedigrees.

  11. Improving the quality of care in Chinese family planning programme.

    Science.gov (United States)

    Jiang, Y; Geng, Q; Haffey, J; Douglas, E

    1994-10-01

    The Chinese State Family Planning Commission (SFPC) is the government department responsible for coordinating and implementing the national population and family planning programs. The commission includes about 300,000 family planning workers and 50 million volunteers. Community workers provide IEC and technical services to couples of reproductive age. In July 1991, SFPC began a five year project to train rural family planning workers in contraceptive technology and interpersonal communication and counseling. These workers were important because of their service to a population of 800 million or 75% of total population. The training program was part of an effort to standardize training and institutionalize it throughout the country. The project involved 20 pilot training stations in 19 provinces. The primary task was to train family planning workers at the grassroots level. 80,000 persons were expected to be trained during the five years. Activities included a training needs assessment, development of training curricula and programs, training of workers, and monitoring and evaluation. Training techniques and topics will include participatory training methods, interpersonal communication and counseling, development of audience based training methods, issues of contraceptive choice and quality of care, and counseling issues such as sexually transmitted disease and HIV infection prevention. About 40,000 family planning workers and volunteers were trained by 1992 in counties, townships, and villages. Trainees learned about "informed choice" and the importance of counseling. Feedback from training activities focused on the appreciation for the participatory training methods such as brainstorming, case study, and role play. Workers appreciated the process involved in training as well as the information received. Evaluation showed that clients improved their knowledge and had positive interactions with workers.

  12. Preschool Predictors of Dyslexia Status in Chinese First Graders with High or Low Familial Risk

    Science.gov (United States)

    Ho, Connie Suk-han

    2014-01-01

    The present 4-year longitudinal study examined preschool predictors of Grade 1 dyslexia status in a Chinese population in Hong Kong where children started learning to read at the age of three. Seventy-five and 39 Chinese children with high and low familial risk respectively were tested on Chinese word reading, oral language skills, morphological…

  13. The Influences of the Chinese Modern Family Changes on the Socialization of Children

    Institute of Scientific and Technical Information of China (English)

    Wang Chenggang; Liu Dan

    2006-01-01

    This article mainly introduces the contemporary changes in Chinese family and especially analyses the transformation of family structure and type,family housing conditions,family relationship network.the relationship between husband and wife and parenthood.In addition,it discusses the influence of family changes in the soeialization of children.Then it expounds the new transformation in children's socialization because of family,school,mass media,etc.Finally,it discusses its challenge and reflection to family and pedagogue.

  14. Identification of a Novel Mutation in the COL2A1 Gene in a Chinese Family with Spondyloepiphyseal Dysplasia Congenita

    OpenAIRE

    Huang, Xiangjun; Deng, Xiong; Xu, Hongbo; Wu, Song; Yuan, Lamei; Yang, Zhijian; Yang, Yan; DENG, HAO

    2015-01-01

    Spondyloepiphyseal dysplasia congenita (SEDC) is an autosomal dominant chondrodysplasia characterized by disproportionate short-trunk dwarfism, skeletal and vertebral deformities. Exome sequencing and Sanger sequencing were performed in a Chinese Han family with typical SEDC, and a novel mutation, c.620G>A (p.Gly207Glu), in the collagen type II alpha-1 gene (COL2A1) was identified. The mutation may impair protein stability, and lead to dysfunction of type II collagen. Family-based study sugge...

  15. Exome Sequencing Identified a Recessive RDH12 Mutation in a Family with Severe Early-Onset Retinitis Pigmentosa

    Directory of Open Access Journals (Sweden)

    Bo Gong

    2015-01-01

    Full Text Available Retinitis pigmentosa (RP is the most important hereditary retinal disease caused by progressive degeneration of the photoreceptor cells. This study is to identify gene mutations responsible for autosomal recessive retinitis pigmentosa (arRP in a Chinese family using next-generation sequencing technology. A Chinese family with 7 members including two individuals affected with severe early-onset RP was studied. All patients underwent a complete ophthalmic examination. Exome sequencing was performed on a single RP patient (the proband of this family and direct Sanger sequencing on other family members and normal controls was followed to confirm the causal mutations. A homozygous mutation c.437Tidentified as being related to the phenotype of this arRP family. This homozygous mutation was detected in the two affected patients, but not present in other family members and 600 normal controls. Another three normal members in the family were found to carry this heterozygous missense mutation. Our results emphasize the importance of c.437T

  16. Family planning and sex education: the Chinese approach.

    Science.gov (United States)

    Fraser, S E

    1977-03-01

    The limitation of population growth in China to about 1.7% annually is, in large part, the result of changing sexual norms which have been brought about by community-wide sexual education. These changes include elevating the status of women, dismissing the traditional striving for male children as "old fashioned," and emphasizing responsible parenthood. About 6% of China's population is made up of minority peoples, some 54 distinctive groups including a few such as the Khalkhas and Sibos who have virtually been saved from extinction during the past 25 years. For these groups the growth rate is 6% and the central government in Peking stresses to visitors that for minorities there is no limitation of family size but that health of the mother is stressed. Conversations with Chinese health workers indicate that rural women are much more in favor of family planning than their husbands and are much more willing to be sterilized when the acceptable family size of 2 or 3 children is reached. However, men are becoming more willing to use condoms which are available without cost from village health workers. There is little sex education in the schools. Physiology is included as a minor part of general biology. Young people are cautioned not to "fall in love" at too early an age or else they will not keep their minds on their studies and will get married too early. Emphasis is on late marriage, 25 for women and 27 for men. Only a modest glance at population or sexually oriented topics are encouraged until marriage is contemplated. Then sex education is given in great variety and detail. It is the opinion of doctors and health workers that sex education is a matter for the married, not the single. Chinese society has little external sexual stimuli, nudity or seminudity is not acceptable except at the beach or the swimming pool, and the young people are generally taught to be circumspect. There is none of the advertising which permeates Western culture. It is understandable

  17. Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta.

    Science.gov (United States)

    Wang, Xin; Zhao, Yuming; Yang, Yuan; Qin, Man

    2015-01-01

    Amelogenesis imperfecta is a group of inherited diseases affecting the quality and quantity of dental enamel. To date, mutations in more than ten genes have been associated with non-syndromic amelogenesis imperfecta (AI). Among these, ENAM and LAMB3 mutations are known to be parts of the etiology of hypoplastic AI in human cases. When both alleles of LAMB3 are defective, it could cause junctional epidermolysis bullosa (JEB), while with only one mutant allele in the C-terminus of LAMB3, it could result in severe hypoplastic AI without skin fragility. We enrolled three Chinese families with hypoplastic autosomal-dominant AI. Despite the diagnosis falling into the same type, the characteristics of their enamel hypoplasia were different. Screening of ENAM and LAMB3 genes was performed by direct sequencing of genomic DNA from blood samples. Disease-causing mutations were identified and perfectly segregated with the enamel defects in three families: a 19-bp insertion mutation in the exon 7 of ENAM (c.406_407insTCAAAAAAGCCGACCACAA, p.K136Ifs*16) in Family 1, a single-base deletion mutation in the exon 5 of ENAM (c. 139delA, p. M47Cfs*11) in Family 2, and a LAMB3 nonsense mutation in the last exon (c.3466C>T, p.Q1156X) in Family 3. Our results suggest that heterozygous mutations in ENAM and LAMB3 genes can cause hypoplastic AI with markedly different phenotypes in Chinese patients. And these findings extend the mutation spectrum of both genes and can be used for mutation screening of AI in the Chinese population.

  18. Novel ENAM and LAMB3 mutations in Chinese families with hypoplastic amelogenesis imperfecta.

    Directory of Open Access Journals (Sweden)

    Xin Wang

    Full Text Available Amelogenesis imperfecta is a group of inherited diseases affecting the quality and quantity of dental enamel. To date, mutations in more than ten genes have been associated with non-syndromic amelogenesis imperfecta (AI. Among these, ENAM and LAMB3 mutations are known to be parts of the etiology of hypoplastic AI in human cases. When both alleles of LAMB3 are defective, it could cause junctional epidermolysis bullosa (JEB, while with only one mutant allele in the C-terminus of LAMB3, it could result in severe hypoplastic AI without skin fragility. We enrolled three Chinese families with hypoplastic autosomal-dominant AI. Despite the diagnosis falling into the same type, the characteristics of their enamel hypoplasia were different. Screening of ENAM and LAMB3 genes was performed by direct sequencing of genomic DNA from blood samples. Disease-causing mutations were identified and perfectly segregated with the enamel defects in three families: a 19-bp insertion mutation in the exon 7 of ENAM (c.406_407insTCAAAAAAGCCGACCACAA, p.K136Ifs*16 in Family 1, a single-base deletion mutation in the exon 5 of ENAM (c. 139delA, p. M47Cfs*11 in Family 2, and a LAMB3 nonsense mutation in the last exon (c.3466C>T, p.Q1156X in Family 3. Our results suggest that heterozygous mutations in ENAM and LAMB3 genes can cause hypoplastic AI with markedly different phenotypes in Chinese patients. And these findings extend the mutation spectrum of both genes and can be used for mutation screening of AI in the Chinese population.

  19. On Collectivism-Individualism dimension in Chinese and Western Family Relationships

    Institute of Scientific and Technical Information of China (English)

    张芳

    2012-01-01

      Western culture emphasizes on individualism, individual freedom and personal choice, while Chinese people put more emphasis on col ectivism. Col ectivism-Individualism value differences can also be reflected in Chinese and Western Family Relationships, which may sometimes lead to conflicts between the couples in the cross-cultural marriage and their families .

  20. Relations between Parent-Child Acculturation Differences and Adjustment within Immigrant Chinese Families

    Science.gov (United States)

    Costigan, Catherine L.; Dokis, Daphn P.

    2006-01-01

    The relations between parent and child acculturation and family and child adjustment were examined among 91 immigrant Chinese families in Canada with early adolescents (average age of 12). Acculturation was assessed in public (e.g., language use) and private (e.g., values) domains separately in Chinese and Canadian cultures. With one exception,…

  1. A Genome Wide Association Study Identifies Common Variants Associated with Lipid Levels in the Chinese Population

    OpenAIRE

    Zhou, Li; He, Meian; Mo, Zengnan; Wu, Chen; Handong YANG; Yu, Dianke; Yang, Xiaobo; Zhang, Xiaomin; Wang, Yiqin; Sun, Jielin; Gao, Yong; Tan, Aihua; He, Yunfeng; Zhang, Haiying; Qin, Xue

    2013-01-01

    Plasma lipid levels are important risk factors for cardiovascular disease and are influenced by genetic and environmental factors. Recent genome wide association studies (GWAS) have identified several lipid-associated loci, but these loci have been identified primarily in European populations. In order to identify genetic markers for lipid levels in a Chinese population and analyze the heterogeneity between Europeans and Asians, especially Chinese, we performed a meta-analysis of two genome w...

  2. 目标区域捕获测序检测到一视网膜色素变性家系ABCA4基因新突变%Targeted next-generation sequencing identifies a novel ABCA4 gene mutation in a Chinese family with retinitis pigmentosa

    Institute of Scientific and Technical Information of China (English)

    丁思加; 陈雪; 赵堪兴; 盛迅伦; 赵晨

    2016-01-01

    Objective To identify the pathogenic mutation in a Chinese family with autosomal recessive retinitis pigmentosa (RP) and to analyze its genotype-phenotype correlations.Methods Seven participants from one family were recruited for this experimental study,including 2 patients and 5 asymptomatic siblings.All participants underwent comprehensive ophthalmic examinations including best-corrected visual acuity,visual field testing,fundus photography,optical coherence tomography,and full-field flash electroretinography.Targeted next-generation sequencing (NGS) was selectively performed on the proband to reveal the RP causative mutation in this family using a microarray targeting 180 reported inherited retinal dystrophies (IRDs) causative genes and 9 potential IRDs relevant genes.All variants initially detected by NGS were then screened and filtered with optimized bioinformatics analyses and validated by intra-familial cosegregation analyses using Sanger sequencing.Genotype-phenotype correlation was also analyzed.Results Ophthalmic examination suggested the clinical diagnosis of typical RP for both patients from this family.Genetic analysis indicated ABCA4 c.419G>A as the RP causative mutation for this family.This mutation induced the amino acid change from arginine to glutamine at residue 140 of the protein encoded by the ABCA4 gene (p.Argl40Gln).Conservational analysis revealed the high conservation of the mutational spot among all tested species,and the online predictive software,PolyPhen-2,suggested the pathogenicity of this mutation.Conclusion By means of a targeted NGS approach,this study identifies a novel mutation,ABCA4 p.Arg140Gln,as the disease causative mutation for a Chinese autosomal recessive RP family,which extends both the genotypic and phenotypic spectrums for the ABCA4 gene.%目的 研究我国一个常染色体隐性遗传的视网膜色素变性(RP)家系患者的临床表型及致病基因突变,并分析表型与基因型间的关系.方法 实验

  3. [Mutation analysis of the pathogenic gene in a Chinese family with hereditary hemochromatosis].

    Science.gov (United States)

    Yuanfeng, Li; Hongxing, Zhang; Haitao, Zhang; Xiaobo, Peng; Lili, Bai; Fuchu, He; Zewu, Qiu; Gangqiao, Zhou

    2014-11-01

    Hereditary hemochromatosis (HHC) is a rare autosomal recessive disorder. We recruited a consanguineous Chinese family including the proband with HHC and other four members without HHC. Using whole-exome sequencing, we identified two homozygous mutations (c.G18C [p.Q6H] and c.GC962_963AA [p.C321X]) in the hemojuvelin gene (HJV) in the proband with HHC. No mutation was found in other four previously identified HHC related genes, HAMP, TFR2, FPN and HFE. The functional impact of p.Q6H mutation is weak whereas p.C321X, a premature termination mutation, results in a truncated HJV protein, which lacks the glycosylphosphatidylinositol (GPI) anchor domain. In addition to the mutations in HJV, other 12 homozygous mutations were identified in this patient. However, none of these mutations showed strong damaging impact and the mutated genes are not related to iron metabolism. Our in-house data further demonstrated that p.C321X is absent in the general Chinese population, suggesting that the homozygous mutation p.C321X in HJV is causative in the patient with HHC. Accordingly, all of the four members without HHC from the same family carried wild-type alleles or heterozygous mutations, but not the homozygous mutation in this site. Thus, we found for the first time that the homozygous mutation p.C321X in HJV can result in HHC, which will help genetic diagnosis and prenatal counseling for HHC.

  4. Mutation analysis in a Chinese family with multiple endocrine neoplasia type 1

    Institute of Scientific and Technical Information of China (English)

    ZHA Bing-bing; LIANG Wang; LIU Jun; CHENG Juan; HONG Xiao-wu; LIU Jing; LI Yi-ming; MA Duan

    2010-01-01

    Background Multiple endocrine neoplasia type 1 (MEN1) is an autosomal dominant cancer syndrome which is caused by germline mutations of the tumor suppressor gene MEN1. This study aimed to identify mutations in a Chinese pedigree withMEN1. Methods A large Chinese family with MEN1 was collected. All of the coded regions and their adjacent sequences of the MEN1 gene were amplified and sequenced. Results In this family, a heterozygous cytosine insertion in exon 10 (c.1546_1547insC) inducing a frame shift mutation of MEN1 was found in the proband and the other two suffering members of his family. This mutation was linked to a novel single nucleotide polymorphism (SNP) in intron 3 (IVS3+18C>T). Conclusions The mutation in exon 10 of MEN1 gene might induce development of parathyroid hyperplasia and pituitary adenoma and cosegregate with MEN1 syndrome. The significance of the new found IVS3+18C>T of MEN1 needs a further investigation.

  5. Two novel mutations identified in familial cases with Donohue syndrome.

    Science.gov (United States)

    Falik Zaccai, Tzipora C; Kalfon, Limor; Klar, Aharon; Elisha, Mordechai Ben; Hurvitz, Haggit; Weingarten, Galina; Chechik, Emelia; Fleisher Sheffer, Vered; Haj Yahya, Raid; Meidan, Gal; Gross-Kieselstein, Eva; Bauman, Dvora; Hershkovitz, Sylvia; Yaron, Yuval; Orr-Urtreger, Avi; Wertheimer, Efrat

    2014-01-01

    Donohue syndrome (DS) is a rare and lethal autosomal recessive disease caused by mutations in the insulin receptor (INSR) gene, manifesting marked insulin resistance, severe growth retardation, hypertrichosis, and characteristic dysmorphic features. We report the clinical, molecular, and biochemical characterization of three new patients with DS, and address genotype-phenotype issues playing a role in the pathophysiology of DS. A female infant born to first-degree cousins Muslim Arab parents and two brothers born to first-degree cousins Druze parents presented classical features of DS with hypertrophic cardiomyopathy and died in infancy. Each patient was found homozygous for one missense mutation within the extracellular domain of the INSR gene. Western blot analysis identified the proreceptor of INSR, but not its mature subunits alpha and beta. Of 95 healthy Muslims, no heterozygous was found and of 52 healthy Druze from the same village, one was heterozygous. This study presents two novel familial mutations in the alpha subunit of the INSR which appear to impair post-translational processing of the INSR, resulting loss of its function. Both mutations cause DS with hypertrophic cardiomyopathy and early death. Identification of the causative mutation enables prevention of this devastating disease. PMID:24498630

  6. Family Stress, Parenting Styles, and Behavioral Adjustment in Preschool-Age Adopted Chinese Girls

    Science.gov (United States)

    Tan, Tony Xing; Camras, Linda A.; Deng, Huihua; Zhang, Minghao; Lu, Zuhong

    2012-01-01

    This study seeks to extend previous research on family stress, parenting, and child adjustment to families with adopted Chinese children. In doing so, we also seek to strengthen inferences regarding the experiential underpinnings of previously obtained relationships among these variables by determining if they also occur in families where parents…

  7. Stresses and Coping Strategies of Chinese Families with Children with Autism and Other Developmental Disabilities

    Science.gov (United States)

    Wang, Peishi; Michaels, Craig A.; Day, Matthew S.

    2011-01-01

    Data from 368 families of children with autism and other developmental disabilities in the People's Republic of China were gathered to understand the stresses that families experience and the coping strategies they employ. Chinese families of children with developmental disabilities perceived high levels of stress related to pessimism, child…

  8. Molecular analysis of FGFR 2 and associated clinical observations in two Chinese families with Crouzon syndrome.

    Science.gov (United States)

    Lin, Ying; Gao, Hongbin; Ai, Siming; Eswarakumar, Jacob V P; Li, Tao; Liu, Bingqian; Jiang, Hongye; Liu, Yuhua; Liu, Xialin; Li, Yonghao; Ni, Yao; Chen, Jiangna; Lin, Zhuoling; Liang, Xiaoling; Jin, Chenjin; Huang, Xinhua; Lu, Lin; Liu, Yizhi

    2016-09-01

    Crouzon syndrome, a dominantly inherited disorder and the most common type of craniosynostosis syndrome, is caused by mutations in the fibroblast growth factor receptor 2 (FGFR 2) gene, and characterized by craniosynostosis, shallow orbits, ocular proptosis, midface hypoplasia and a curved, beak‑like nose. The purpose of the present study was to investigate the fibroblast growth factor receptor 2 (FGFR 2) gene in two Chinese families with Crouzon syndrome and to characterize the associated clinical features. Two families underwent complete ophthalmic examination, and three patients in two families were diagnosed with Crouzon syndrome. Genomic DNA was extracted from leukocytes of peripheral blood samples, which were collected from the family members and 200 unrelated control subjects from the same population. Exons 8 and 10 of the FGFR 2 gene were amplified using polymerase chain reaction analysis and were directly sequenced. Ophthalmic examinations, including best‑corrected visual acuity, slit‑lamp examination, fundus examination and Computerized Tomography scans, and physical examinations were performed to exclude systemic diseases. These patients were affected with shallow orbits and ocular proptosis, accompanied by midface hypoplasia, craniosynostosis, strabismus or papilloedema, with clinically normal hands and feet. A heterozygous FGFR 2 missense mutation, c.811‑812insGAG (p.273insGlu) in exon 8 was identified in the affected individual, but not in the unaffected family members or the normal control individuals in family 1. In family 2, another heterozygous FGFR 2 missense mutation, c.842A>G (P.Tyr281Cys or Y281C), in exon 8 was identified in the affected boy and his mother, but not in the unaffected family members or the normal control individuals. Although FGFR 2 gene mutations and polymorphisms have been reported in various ethnic groups, particularly in the area of osteology, the present study reported for the first time, to the best of

  9. Identification of genetic variations of a Chinese family with paramyotonia congenita via whole exome sequencing

    Directory of Open Access Journals (Sweden)

    Jinxin Li

    2015-06-01

    Full Text Available Paramyotonia congenita (PC is a rare autosomal dominant neuromuscular disorder characterized by juvenile onset and development of cold-induced myotonia after repeated activities. The disease is mostly caused by genetic mutations of the sodium channel, voltage-gated, type IV, alpha subunit (SCN4A gene. This study intended to systematically identify the causative genetic variations of a Chinese Han PC family. Seven members of this PC family, including four patients and three healthy controls, were selected for whole exome sequencing (WES using the Illumina HiSeq platform. Sequence variations were identified using the SoftGenetics program. The mutation R1448C of SCN4A was found to be the only causative mutation. This study applied WES technology to sequence multiple members of a large PC family and was the first to systematically confirm that the genetic change in SCN4A is the only causative variation in this PC family and the SCN4A mutation is sufficient to lead to PC.

  10. Family firms, networks and 'Ethnic enterprise' : Chinese food industry in Britain.

    OpenAIRE

    Gomez, Edmund Terence.; Gordon C. K. Cheung

    2009-01-01

    Chinese family enterprises in the United Kingdom have penetrated many different sectors of the economy, including restaurants, wholesaling, retailing, trading, manufacturing, property development, computer services and investment holding. Among the companies in these sectors, those involved in different segments of the food industry, as manufacturers, retailers and wholesalers, reputedly feature characteristics of Chinese culture. A majority of these enterprises, for example, function as fami...

  11. The Efficacy of Parent-Child Interaction Therapy with Chinese Families: Randomized Controlled Trial

    Science.gov (United States)

    Leung, Cynthia; Tsang, Sandra; Sin, Tammy C. S.; Choi, Siu-yan

    2015-01-01

    Objective: This study aimed to examine the efficacy of the Parent-Child Interaction Therapy (PCIT) in Hong Kong Chinese families, using randomized controlled trial design. Methods: The participants included 111 Hong Kong Chinese parents with children aged 2--7 years old, who were randomized into the intervention group (n = 54) and control group (n…

  12. Individual and Familial Factors Influencing the Educational and Career Plans of Chinese Immigrant Youths

    Science.gov (United States)

    Ma, Pei-Wen Winnie; Yeh, Christine J.

    2010-01-01

    The authors explore how individual and familial factors predict educational and career aspirations, plans, and vocational outcome expectations of urban, Chinese immigrant youths. Participants were 265 Chinese immigrant high school students in New York City. The results indicated that higher self-reported English language fluency and career-related…

  13. Association between Cognitive Distortion, Type D Personality, Family Environment, and Depression in Chinese Adolescents

    OpenAIRE

    Yong Zhang; Hengfen Li; Shaohong Zou

    2011-01-01

    Purpose. Depression prevalence and risk increase among adolescents are related to biological, psychosocial, and cultural factors. Little is known about the association between cognitive distortion, type D personality, family environment, and depression. The aim of this paper was to examine the relationships of cognitive distortion, type D personality, family environment, and depression in a sample of Chinese adolescents. Methods. A sample of Chinese adolescents with depression and the control...

  14. Enabling Intrapreneurship : A Case of A Chinese Family Business and SMEs in Malaysia

    OpenAIRE

    Chia, Woan Tyng

    2011-01-01

    The objective of this study is to conduct an exploratory study into the intrapreneurial behavior in southeast Chinese family business firms. This is very much in response to the fact that current available literatures in corporate entrepreneurship are mainly focused on western well-established organizations. Whereas, the study of corporate entrepreneurship in Chinese family business context are still lacking.This study target discloses whether the enablers of corporate entrepreneurship, which...

  15. The psychosocial adjustment of Chinese adolescent immigrants in satellite families in Canada

    OpenAIRE

    Yeung, Paul

    2005-01-01

    This study examined the psychosocial adjustment of Chinese immigrant children in satellite families in Canada. I used Flanagan's (1954) Critical Incident Technique to interview 32 Chinese children who were between 10 and 19 years old, living in satellite families, and who emigrated from China, Taiwan, or Hong Kong to Canada within the last four years. All interviews were conducted in the respondents' mother tongue. The results showed that these children, whether they emigrated to Canada recen...

  16. Clinical Characteristics of 5 Chinese LQTS Families and Phenotype-genotype Correlation

    Institute of Scientific and Technical Information of China (English)

    廉姜芳; 崔长琮; 薛小临; 黄辰; 崔翰斌

    2004-01-01

    Summary: In order to assess the clinical manifestations and electrocardiogram (ECG) characteristics of Chinese long QT syndrome (LQTS) patients and describe the phenotype-genotype correlation,the subjects from 5 congenital LQTS families underwent clinical detailed examination including resting body surface ECG. QT interval and transmural dispersion of repolarization (TDR) were manually measured. Five families were genotyped by linkage analysis (polymerase chain reacting-short tandem repeat, PCR-STR). The phenotype-genotype correlation was analyzed. Four families were LQT2, 1 family was LQT3. Twenty-eight gene carriers were (14 males and 14 females) identified from 5 families. The mean QTc and TDRc were 0. 56±0. 04 s (range 0.42 to 0.63) and 0.16±0.04 s (range 0. 09 to 0. 24) respectively. 35. 7 % (10/28) had normal to borderline QTc (≤0. 460 s). There was significant difference in QTc and TDRc between the patients with symptomatic LQTS and those with asymptomatic LQTS, and there was significant difference in TDRc between the asymptomatic patients and normal people also. A history of cardiac events was present in 50 %(14/28), including 9 with syncope, 2 with sudden death (SD) and occurred in the absence of β-blocker. Three SDs occurred prior to the diagnosis of LQTS and had no ECG record. Two out of 5 SDs (40 %) occurred as the first symptom. Typical LQT2 T wave pattern were found in 40 % (6/15) of all affected members. The appearing-normal T wave was found in one LQT3 family. Low penetrance of QTc and symptoms resulted in diagnostic challenge. ECG patterns and repolarization parameters may be used to predict the genotype in most families. Genetic test is very important for identification of gene carriers.

  17. Three novel α-L-iduronidase mutations in 10 unrelated Chinese mucopolysaccharidosis type I families

    Directory of Open Access Journals (Sweden)

    Luning Sun

    2011-01-01

    Full Text Available Mucopolysaccharidosis type I (MPS I arises from a deficiency in the α-L-iduronidase (IDUA enzyme. Although the clinical spectrum in MPS I patients is continuous, it was possible to recognize 3 phenotypes reflecting the severity of symptoms, viz., the Hurler, Scheie and Hurler/Scheie syndromes. In this study, 10 unrelated Chinese MPS I families (nine Hurler and one Hurler/Scheie were investigated, and 16 mutant alleles were identified. Three novel mutations in IDUA genes, one missense p.R363H (c.1088G > A and two splice-site mutations (c.1190-1G > A and c.792+1G > T, were found. Notably, 45% (nine out of 20 and 30% (six out of 20 of the mutant alleles in the 10 families studied were c.1190-1G > A and c.792+1G > T, respectively. The novel missense mutation p.R363H was transiently expressed in CHO cells, and showed retention of 2.3% IDUA activity. Neither p.W402X nor p.Q70X associated with the Hurler phenotype, or even p.R89Q associated with the Scheie phenotype, was found in this group. Finally, it was noted that the Chinese MPS I patients proved to be characterized with a unique set of IDUA gene mutations, not only entirely different from those encountered among Europeans and Americans, but also apparently not even the same as those found in other Asian countries.

  18. A novel OPA1 mutation in a Chinese family with autosomal dominant optic atrophy

    Energy Technology Data Exchange (ETDEWEB)

    Zhang, Juanjuan; Yuan, Yimin; Lin, Bing; Feng, Hao; Li, Yan [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou 325027, Zhejiang (China); Dai, Xianning; Zhou, Huihui [Attardi Institute of Mitochondrial Biomedicine and Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou 325035, Zhejiang (China); Dong, Xujie [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou 325027, Zhejiang (China); Liu, Xiao-Ling, E-mail: lxl@mail.eye.ac.cn [School of Ophthalmology and Optometry, Wenzhou Medical College, Wenzhou 325027, Zhejiang (China); Guan, Min-Xin, E-mail: min-xin.guan@cchmc.org [Attardi Institute of Mitochondrial Biomedicine and Zhejiang Provincial Key Laboratory of Medical Genetics, School of Life Sciences, Wenzhou Medical College, Wenzhou 325035, Zhejiang (China); Institute of Genetics, Zhejiang University, Hangzhou, Zhejiang 310012 (China); Division of Human Genetics, Cincinnati Children' s Hospital Medical Center, OH 45229 (United States)

    2012-03-23

    Highlights: Black-Right-Pointing-Pointer We report the characterization of a four-generation large Chinese family with ADOA. Black-Right-Pointing-Pointer We find a new heterozygous mutation c.C1198G in OPA1 gene which may be a novel pathogenic mutation in this pedigree. Black-Right-Pointing-Pointer We do not find any mitochondrial DNA mutations associated with optic atrophy. Black-Right-Pointing-Pointer Other factors may also contribute to the phenotypic variability of ADOA in this pedigree. -- Abstract: A large four-generation Chinese family with autosomal dominant optic atrophy (ADOA) was investigated in the present study. Eight of the family members were affected in this pedigree. The affected family members exhibited early-onset and progressive visual impairment, resulting in mild to profound loss of visual acuity. The average age-at-onset was 15.9 years. A new heterozygous mutation c.C1198G was identified by sequence analysis of the 12th exon of the OPA1 gene. This mutation resulted in a proline to alanine substitution at codon 400, which was located in an evolutionarily conserved region. This missense mutation in the GTPase domain was supposed to result in a loss of function for the encoded protein and act through a dominant negative effect. No other mutations associated with optic atrophy were found in our present study. The c.C1198G heterozygous mutation in the OPA1 gene may be a novel key pathogenic mutation in this pedigree with ADOA. Furthermore, additional nuclear modifier genes, environmental factors, and psychological factors may also contribute to the phenotypic variability of ADOA in this pedigree.

  19. Association between Cognitive Distortion, Type D Personality, Family Environment, and Depression in Chinese Adolescents.

    Science.gov (United States)

    Zhang, Yong; Li, Hengfen; Zou, Shaohong

    2011-01-01

    Purpose. Depression prevalence and risk increase among adolescents are related to biological, psychosocial, and cultural factors. Little is known about the association between cognitive distortion, type D personality, family environment, and depression. The aim of this paper was to examine the relationships of cognitive distortion, type D personality, family environment, and depression in a sample of Chinese adolescents. Methods. A sample of Chinese adolescents with depression and the controls were investigated cross-sectionally with life orientation test-revised (LOT-R), type D personality Scale-14 (DS14), family environment scale (FES), and Zung self-depression scale (SDS); respectively, all scales were administered in Chinese. Results. Chinese-depressed adolescents showed more cognitive distortion, type D personality, and adverse family environment than control groups. Furthermore, lower level of Optimism, negative affectivity, and poor family cohesion may increase the risk of depression in Chinese adolescents. Conclusions. Our study indicates that lower level of Optimism, Negative Affectivity, and poor Family Cohesion factors were implicated to contribute to depression in Chinese adolescents. Lower level of optimism and negative affectivity may be crucial associated factors of depression among these samples. our findings pointed to the importance of broad screening and intervention of vulnerable population.

  20. A novel nonsense mutation of the GPR143 gene identified in a Chinese pedigree with ocular albinism.

    Directory of Open Access Journals (Sweden)

    Naihong Yan

    Full Text Available BACKGROUND: The purpose of this study was to elucidate the molecular basis of ocular albinism type I in a Chinese pedigree. METHODOLOGY/PRINCIPAL FINDINGS: Complete ophthalmologic examinations were performed on 4 patients, 7 carriers and 17 unaffected individuals in this five-generation family. All coding exons of four-point-one (4.1, ezrin, radixin, moesin (FERM domain-containing 7 (FRMD7 and G protein-coupled receptor 143 (GPR143 genes were amplified by polymerase chain reaction (PCR, sequenced and compared with a reference database. Ocular albinism and nystagmus were found in all patients of this family. Macular hypoplasia was present in the patients including the proband. A novel nonsense hemizygous mutation c.807T>A in the GPR143 gene was identified in four patients and the heterozygous mutation was found in seven asymptomatic individuals. This mutation is a substitution of tyrosine for adenine which leads to a premature stop codon at position 269 (p.Y269X of GPR143. CONCLUSIONS/SIGNIFICANCE: This is the first report that p.Y269X mutation of GPR143 gene is responsible for the pathogenesis of familial ocular albinism. These results expand the mutation spectrum of GPR143, and demonstrate the clinical characteristics of ocular albinism type I in Chinese population.

  1. Understanding the Culture of Chinese Children and Families

    Science.gov (United States)

    Cheung, Ruth; Nelson, Warren; Advincula, Luzelle; Cureton, Virginia Young; Canham, Daryl L.

    2005-01-01

    Providing appropriate health care to a client can be accomplished only in an environment that is sensitive to the cultural values and beliefs of the client. As the population of first-and second-generation Chinese immigrants increases in the United States, the need to develop culturally sensitive health care becomes significant. Chinese immigrants…

  2. Culture, threat, and mental illness stigma: identifying culture-specific threat among Chinese-American groups.

    Science.gov (United States)

    Yang, Lawrence H; Purdie-Vaughns, Valerie; Kotabe, Hiroki; Link, Bruce G; Saw, Anne; Wong, Gloria; Phelan, Jo C

    2013-07-01

    We incorporate anthropological insights into a stigma framework to elucidate the role of culture in threat perception and stigma among Chinese groups. Prior work suggests that genetic contamination that jeopardizes the extension of one's family lineage may comprise a culture-specific threat among Chinese groups. In Study 1, a national survey conducted from 2002 to 2003 assessed cultural differences in mental illness stigma and perceptions of threat in 56 Chinese-Americans and 589 European-Americans. Study 2 sought to empirically test this culture-specific threat of genetic contamination to lineage via a memory paradigm. Conducted from June to August 2010, 48 Chinese-American and 37 European-American university students in New York City read vignettes containing content referring to lineage or non-lineage concerns. Half the participants in each ethnic group were assigned to a condition in which the illness was likely to be inherited (genetic condition) and the rest read that the illness was unlikely to be inherited (non-genetic condition). Findings from Study 1 and 2 were convergent. In Study 1, culture-specific threat to lineage predicted cultural variation in stigma independently and after accounting for other forms of threat. In Study 2, Chinese-Americans in the genetic condition were more likely to accurately recall and recognize lineage content than the Chinese-Americans in the non-genetic condition, but that memorial pattern was not found for non-lineage content. The identification of this culture-specific threat among Chinese groups has direct implications for culturally-tailored anti-stigma interventions. Further, this framework might be implemented across other conditions and cultural groups to reduce stigma across cultures.

  3. Understanding Chinese American Adolescents' Developmental Outcomes: Insights from the Family Stress Model

    Science.gov (United States)

    Benner, Aprile D.; Kim, Su Yeong

    2010-01-01

    In this brief report, we investigated whether the Family Stress Model could be replicated with a sample of Chinese American families. Path analyses with 444 adolescents and their parents provided support for the model's generalizability. Specifically, mothers' and fathers' reports of economic status (i.e., income, financial, and job instability)…

  4. The modern Chinese family in light of economic and legal history.

    Science.gov (United States)

    Huang, Philip C C

    2011-01-01

    Most social science theory and the currently powerful Chinese ideology of modernizationism assume that, with modern development, family-based peasant farm production will disappear, to be replaced by individuated industrial workers and the three-generation family by the nuclear family. The actual record of China’s economic history, however, shows the powerful persistence of the small family farm, as well as of the three-generation family down to this day, even as China’s GDP becomes the second largest in the world. China’s legal system, similarly, encompasses a vast informal sphere, in which familial principles operate more than individualist ones. And, in between the informal-familial and the formal-individualist, there is an enormous intermediate sphere in which the two tendencies are engaged in a continual tug of war. The economic behavior of the Chinese family unit reveals great contrasts with what is assumed by conventional economics. It has a different attitude toward labor from that of both the individual worker and the capitalist firm. It also has a different structural composition, and a different attitude toward investment, children’s education, and marriage. Proper attention to how Chinese modernity differs socially, economically, and legally from the modern West points to the need for a different kind of social science; it also lends social–economic substance to claims for a modern Chinese culture different from the modern West’s. PMID:22145178

  5. The One-Child Population Policy, Modernization, and the Extended Chinese Family.

    Science.gov (United States)

    Chen, Xiangming

    1985-01-01

    Examines structural, social-psychological, and ecologial factors affecting the direction and type of changes occurring in the Chinese family. Multiple demographic and socioeconomic influences and the family's adaptive responses are creating conditions in China for the traditional household arrangement to survive, while generating new variants of…

  6. Bridging Home and Host Country: Educational Predispositions of Chinese and Indian Recent Immigrant Families

    Science.gov (United States)

    Gordon, June A.; Liu, Xiangyan

    2015-01-01

    This research focuses on the predispositions that recent Chinese and Indian immigrant families bring with them to the United States and how these are reinforced by the communities in which they locate. The findings draw from 144 interviews in California. Three themes dominate: positioning through schooling, transnational family, and extended…

  7. Towards Homogeneity in Home Languages: Malay, Chinese Foochow and Indian Tamil Families in Kuching, Sarawak, Malaysia

    Science.gov (United States)

    Ting, Su-Hie; Mahadhir, Mahanita

    2009-01-01

    This preliminary study examines the languages used by parents with their children in Malay, Chinese Foochow and Indian Tamil families to find out how the similarity or dissimilarity in parents' ethnic language influenced the choice of language transmitted to children and how far standard languages have permeated the family domain in Kuching City…

  8. Perspectives on Family Health, Happiness and Harmony (3H) among Hong Kong Chinese People: A Qualitative Study

    Science.gov (United States)

    Lam, W. W. T.; Fielding, R.; McDowell, I.; Johnston, J.; Chan, Sophia; Leung, G. M.; Lam, T. H.

    2012-01-01

    Family harmony, an important Confucian ideal in Chinese society is believed to determine family happiness and therefore health, but is this accurate? This is a qualitative study of 41 Hong Kong Chinese family members. Individual recorded interviews were thematically analysed describing perceived interactions between harmony, happiness and health.…

  9. A rare co-segregation-mutation in the insulin receptor substrate 1 gene in one Chinese family with ankylosing spondylitis.

    Directory of Open Access Journals (Sweden)

    Ju Rong

    Full Text Available Ankylosing spondylitis (AS; MIM 106300 is a common rheumatic disease with strong genetic components affecting approximately 0.3% of the population. The exact genetic mechanism of AS remains elusive. Our previous study showed that AS could be transmitted in an autosomal dominant inheritance mode and a 6-cM candidate region located on the chromosome 2q36.1-36.3 was mapped in a Chinese family. Mutation screening was conducted within the candidate region in the family and other AS by sequencing, and the novel mutation will be further validated in other AS families, sporadic cases and healthy controls by mass spectrometry. We identified a rare non-synonymous mutation (Arg580Gly in insulin receptor substrate 1 (IRS1 co-segregated with disease phenotype in patients of the family, which was not found in other AS families, sporadic patients and healthy controls. In the study, we found a rare non-synonymous mutation in IRS1 co-segregation in one Chinese family with AS, which indicated a new candidate disease causative gene for AS.

  10. Time to tackle domestic violence: identifying and supporting families.

    Science.gov (United States)

    Dennis, Tanya

    2014-09-01

    Domestic violence and abuse (DVA) is a serious societal and public health issue that takes place within family-type intimate relationships and forms a pattern of coercive and controlling behaviours, which can escalate over time. DVA rarely exists in isolation from other social 'ills' and can have an enormous impact on people's health and wellbeing. Recently, family violence has become more visible to health visitors and increasingly presents challenges to practice. Some are practical challenges faced by practitioners who seek to comprehend the evolving phenomenon and others involve the clinical dilemmas surrounding service delivery. The deeply vexed question is how health visitors can work towards ending the cycle of DVA, especially where there are unclear parameters between the victim and perpetrator, and when clients are accepting of, and dismissive about, DVA. The recent government strategy-based move towards greater emphasis on prevention has provided an opportunity for health visitors to intervene in DVA. In light of the nature of safeguarding responsibilities, and a wider public health role as providers of universal health services, health visitors are well placed to offer early support to families. PMID:25286740

  11. The localization of type 2 diabetes susceptibility gene loci in northern Chinese Han families

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    We conducted a genome-wide scan,in which 358 well distributed fluorescent dye-labe- led microsatellite marker sets were applied in 32 Chinese Han type 2 diabetes families from Northern China to search for the susceptibility gene loci.The data collected from screening all the chromosomes of genome were genotyped by using genescan and genotyping software,then,parametric and non-parametric multipoint test,and affected sib-pair analysis as well,were used to analyze the data.We identified some susceptibility gene loci residing in chromosomes 1,12,18,20,respectively,or precisely,located around D1S214,D1S207,D1S218,D1S235,D12S336,D18S61 and D20S118.The comparison of this result with those from other regions and races reflected the complexity and heterogeneity of type 2 diabetes.

  12. Intergenerational Discrepancies of Parental Control among Chinese American Families: Links to Family Conflict and Adolescent Depressive Symptoms

    Science.gov (United States)

    Juang, Linda P.; Syed, Moin; Takagi, Miyuki

    2007-01-01

    This study investigated how discrepancies between adolescents' and parents' endorsement of parental control contribute to adolescent depressive symptoms. Family conflict was hypothesized to mediate the link between parent-adolescent discrepancies and depressive symptoms. The sample consisted of 166 pairs of Chinese American adolescents and their…

  13. Features of a Chinese family with cerebral cavernous malformation induced by a novel CCM1 gene mutation

    Institute of Scientific and Technical Information of China (English)

    WANG Xue; LIU Xue-wu; Nora Lee; LIU Qi-ji; LI Wen-na; HAN Tao; WEI Kun-kun

    2013-01-01

    Background Familial cerebral cavernous malformations (CCMs),characterized by hemorrhagic stroke,recurrent headache and epilepsy,are congenital vascular anomalies of the central nervous system.Familial CCMs is an autosomal dominant inherited disorder and three CCM genes have been identified.We report a Chinese family with CCMs and intend to explore clinical,pathological,magnetic resonance imaging (MRI) features and pathogenic gene mutation of this family.Methods Totally 25 family members underwent brain MRI examination and clinical check.Two patients with surgical indications had surgical treatment and the specimens were subjected to histopathological and microstructural examination.In addition,polymerase chain reaction (PCR) and direct sequencing were performed with genomic DNA extracted from 25 family members' blood samples for mutation detection.Results Brain MRI identified abnormal results in seven family members.All of them had multiple intracranial lesions and four cases had skin cavernous hemangioma.T2-weighted sequence showed that the lesions were typically characterized by an area of mixed signal intensity.Gradient-echo (GRE) sequence was more sensitive to find microcavernous hemangiomas.There was a wide range in the clinical manifestations as well as the age of onset in the family.The youngest patient was an 8-year-old boy with least intracranial lesions.Histopathological and microstructural examination showed that CCMs were typically discrete multi-sublobes of berry-like lesions,with hemorrhage in various stages of illness evolution.They were formed by abnormally enlarged sinusoids and the thin basement membranes.A novel T deletion mutation in exon 14 of CCM1 gene was identified by mutation detection in the seven patients.But unaffected members and healthy controls did not carry this mutation.Conclusions The clinical manifestations were heterogenic within this family.We identified a novel mutation (c.1396delT) was the disease-causing mutation for this

  14. Group Parent Training with Immigrant Chinese Families: Enhancing Engagement and Augmenting Skills Training

    OpenAIRE

    Lau, Anna S.; Fung, Joey J.; Yung, Vanda

    2010-01-01

    Parent training (PT) is a well supported treatment for reducing and preventing child conduct problems and abusive parenting. However, questions have been raised about the dissemination of PT to culturally diverse families who hold different views on childrearing and family structure. This article describes the application of group PT in two Chinese immigrant families to illustrate dual strategies for addressing potential cultural barriers. The Incredible Years program builds in many therapeut...

  15. Phenotype and genotype analysis of a Chinese family with prelingual X-linked hereditary hearing impairment

    Institute of Scientific and Technical Information of China (English)

    HAN Bing; CHENG Jing; YANG Shu-zhi; CAO Ju-yang; SHEN Wei-dong; JI Fei; KANG Dong-yang; ZHANG Xin; DAI Pu; YUAN Hui-jun

    2009-01-01

    Background X-linked hearing impairment is clinically and genetically a heterogeneous disease.Although many disorders manifest with hearing loss,a limited number of sex-linked loci and only one gene (POU3F4) have been shown to be implicated in X-linked non-syndromic hearing impairment.In the present study,we have performed a clinical and genetic analysis of a Chinese family with X-linked non-syndromic hearing loss,with emphasis on audiological findings and genomic mapping.Methods The clinical features of Family JX01 were evaluated by physical and audiometric examination in eighteen family members.Mutation screening of POU3F4 was identified by polymerase chain reaction (PCR) amplification and sequencing.Molecular evaluation consisted of X-chromosome wide genotyping by microsatellite makers (STR),followed by analyzing using MLINK computer program.Results Five affected males demonstrated bilateral,symmetrical sensorineural and profound hearing loss.The hearing impairment started prelingual.The female carriers did not have any complain of hearing loss,however,two of them were tested with milder loss with high frequency.No causative mutations in POU3F4 gene were detected by DNA sequencing.Linkage analysis indicated that the responsible gene was linked to locus DXS1227 (maximum lod score=2.04 at θ=0).Conclusions The affected males in Family JX01 have profound prelingual sensorineural hearing impairment,In addition,two female carriers showed mild to moderate hearing losses.However,none of females complained of any hearing loss.Analysis of hereditary deafness in this family mapped most compatibly to the Xq27.2.

  16. A genome wide association study identifies common variants associated with lipid levels in the Chinese population.

    Directory of Open Access Journals (Sweden)

    Li Zhou

    Full Text Available Plasma lipid levels are important risk factors for cardiovascular disease and are influenced by genetic and environmental factors. Recent genome wide association studies (GWAS have identified several lipid-associated loci, but these loci have been identified primarily in European populations. In order to identify genetic markers for lipid levels in a Chinese population and analyze the heterogeneity between Europeans and Asians, especially Chinese, we performed a meta-analysis of two genome wide association studies on four common lipid traits including total cholesterol (TC, triglycerides (TG, low-density lipoprotein cholesterol (LDL and high-density lipoprotein cholesterol (HDL in a Han Chinese population totaling 3,451 healthy subjects. Replication was performed in an additional 8,830 subjects of Han Chinese ethnicity. We replicated eight loci associated with lipid levels previously reported in a European population. The loci genome wide significantly associated with TC were near DOCK7, HMGCR and ABO; those genome wide significantly associated with TG were near APOA1/C3/A4/A5 and LPL; those genome wide significantly associated with LDL were near HMGCR, ABO and TOMM40; and those genome wide significantly associated with HDL were near LPL, LIPC and CETP. In addition, an additive genotype score of eight SNPs representing the eight loci that were found to be associated with lipid levels was associated with higher TC, TG and LDL levels (P = 5.52 × 10(-16, 1.38 × 10(-6 and 5.59 × 10(-9, respectively. These findings suggest the cumulative effects of multiple genetic loci on plasma lipid levels. Comparisons with previous GWAS of lipids highlight heterogeneity in allele frequency and in effect size for some loci between Chinese and European populations. The results from our GWAS provided comprehensive and convincing evidence of the genetic determinants of plasma lipid levels in a Chinese population.

  17. Clinical features of familial adenomas polyps in Chinese and establishment of its immortal lymphocyte cell lines

    Institute of Scientific and Technical Information of China (English)

    Shan-Rong Cai; Su-Zhang Zhang; Shu Zheng

    2007-01-01

    AIM:To reserve the rare Chinese familial adenomas polyp (FAP) family resource and to investigate the clinical features of FAP in Chinese for its diagnosis.METHODS: Clinical features of patients with FAP were investigated. If there is any question, their medical records were verified. Blood sample was taken and lymphocyte immortal cell lines were established with modified EB-transformation methods. Congenital hypertrophy of retinal pigment epithelium (CHRPE) was checked by an experienced ophthalmologist.RESULTS: Twenty seven families including 21 classical FAP (CFAP) families, 3 attenuated FAP (AFAP) families,and 3 suspected AFAP families were investigated. A total of 116 lymphocyte immortal cell lines were established from 26 families. In all the FAP families, colorectal cancer occurred at the mean age of 42.84 years. Of the 16 families checked, 15 (93.75%) had CHRPE. The mean number of patients suffering from colorectal neoplasm was 3.14 in CFAP families and 2.0 in AFAP families (P < 0.01). The mean oldest age at diagnosis of FAP was 41.75 years in CFAP families, and 58.67 years in AFAP families, respectively (P < 0.01). Mean age of development of colorectal cancer was 42.23 in CFAP and 57.33 years old in AFAP (P < 0.01). Mean of the earliest age at diagnosis of FAP was 29.95 years in the FAP families with a positive family history and 46.80 years in the FAP families with a negative family history (P <0.01). The ratio of extra-intestinal tumors to colorectal neoplasms was different in the two kinds of families with positive and negative family history (P < 0.01).CONCLUSION: Additional use of ciclosporin will effectively improve to establish lymphocyte immortal cell lines with modified EB- transformation methods. In Chinese FAP, there was a high frequency of CHRPE, and a later age at diagnosis and a later age of development of colorectal cancer in AFAP. And earlier age at diagnosis in FAP with positive family history was also found that will help to

  18. Intergenerational and Urban-Rural Health Habits in Chinese Families

    Science.gov (United States)

    Li, Li; Lin, Chunqing; Cao, Haijun; Lieber, Eli

    2009-01-01

    Objective: To explore intergenerational health habits and compare differences between urban and rural families. Methods: A total of 2500 families with children ages 6-18 in China were surveyed regarding their health habits. Results: Urban families reported significantly greater food variety and more time exercising (for fathers and children) than…

  19. A Simple Risk Score for Identifying Individuals with Impaired Fasting Glucose in the Southern Chinese Population

    Directory of Open Access Journals (Sweden)

    Hui Wang

    2015-01-01

    Full Text Available This study aimed to develop and validate a simple risk score for detecting individuals with impaired fasting glucose (IFG among the Southern Chinese population. A sample of participants aged ≥20 years and without known diabetes from the 2006–2007 Guangzhou diabetes cross-sectional survey was used to develop separate risk scores for men and women. The participants completed a self-administered structured questionnaire and underwent simple clinical measurements. The risk scores were developed by multiple logistic regression analysis. External validation was performed based on three other studies: the 2007 Zhuhai rural population-based study, the 2008–2010 Guangzhou diabetes cross-sectional study and the 2007 Tibet population-based study. Performance of the scores was measured with the Hosmer-Lemeshow goodness-of-fit test and ROC c-statistic. Age, waist circumference, body mass index and family history of diabetes were included in the risk score for both men and women, with the additional factor of hypertension for men. The ROC c-statistic was 0.70 for both men and women in the derivation samples. Risk scores of ≥28 for men and ≥18 for women showed respective sensitivity, specificity, positive predictive value and negative predictive value of 56.6%, 71.7%, 13.0% and 96.0% for men and 68.7%, 60.2%, 11% and 96.0% for women in the derivation population. The scores performed comparably with the Zhuhai rural sample and the 2008–2010 Guangzhou urban samples but poorly in the Tibet sample. The performance of pre-existing USA, Shanghai, and Chengdu risk scores was poorer in our population than in their original study populations. The results suggest that the developed simple IFG risk scores can be generalized in Guangzhou city and nearby rural regions and may help primary health care workers to identify individuals with IFG in their practice.

  20. A novel mutation in the TECTA gene in a Chinese family with autosomal dominant nonsyndromic hearing loss.

    Directory of Open Access Journals (Sweden)

    Yu Su

    Full Text Available TECTA-related deafness can be inherited as autosomal-dominant nonsyndromic deafness (designated DFNA or as the autosomal-recessive version. The α-tectorin protein, which is encoded by the TECTA gene, is one of the major components of the tectorial membrane in the inner ear. Using targeted DNA capture and massively parallel sequencing (MPS, we screened 42 genes known to be responsible for human deafness in a Chinese family (Family 3187 in which common deafness mutations had been ruled out as the cause, and identified a novel mutation, c.257-262CCTTTC>GCT (p. Ser86Cys; p. Pro88del in exon 3 of the TECTA gene in the proband and his extended family. All affected individuals in this family had moderate down-sloping hearing loss across all frequencies. To our knowledge, this is the second TECTA mutation identified in Chinese population. This study demonstrates that targeted genomic capture, MPS, and barcode technology might broaden the availability of genetic testing for individuals with undiagnosed DFNA.

  1. Identification and functional analysis of GJA8 mutation in a Chinese family with autosomal dominant perinuclear cataracts.

    Directory of Open Access Journals (Sweden)

    Dongmei Su

    Full Text Available Congenital cataract is a clinically and genetically heterogeneous group of eye disorders that causes visual impairment and childhood blindness. The purpose of this study was to identify the genetic defect associated with autosomal dominant congenital perinuclear cataract in a Chinese family. A detailed family history and clinical data of the family were recorded, and candidate gene sequencing was performed to screen for mutation-causing disease in our study. Direct sequencing revealed a c.601G>A (p.E201K transversion in exon 2 of GJA8. This mutation co-segregated with all affected individuals in the family and was not found in unaffected family members or 100 unrelated controls. The function and mechanism of novel GJA8 point mutation E201K in Chinese patients were then investigated in this study. We found E201K aberrantly located in cytoplasm and prevented its location in the plasma membrane. Induction of E201K expression led to a decrease in cell growth and viability by MTT (3-(4,5-Dimethylthiazol-2-yl-2,5-diphenyltetrazolium bromide assay. Our study provides important evidence that GJA8 is a disease-causing gene for congenital cataract and that mutation of GJA8 has a potential causative effect.

  2. Across Cultural and National Borders: Diasporic Chinese Family in Pushing Hands

    Directory of Open Access Journals (Sweden)

    Qijun Han

    2011-08-01

    Full Text Available Being embedded in the interdisciplinary area of media and culture studies, this articlel explores the family melodrama in transnational Chinese cinema drawing upon theoretical discussions with regard to the historical emergence of melodrama in correspondence to, as Th. Elsaesser says, “periods of intense social and ideological crisis”. While serving as a reflection on the tension between tradition and modernity displayed in the domestic domain, Ang Lee’s Chinese-characterized family melodrama also illustrates the differences between Chinese and Hollywood family melodrama. Linked to the ongoing debate about “melodrama as a cross-cultural form”, in the process of analyzing the film text, our perceptions of generic dislocation or displacement, transcultural entanglements and globalization in light of contemporary cultural practices will be furthermore complicated.  

  3. Can family pediatricians in Italy identify child abuse? A survey.

    Science.gov (United States)

    Romeo, Lucia; Gibelli, Daniele; Giannotta, Federica; Zocchi, Maria T; Rossi, Roberto C; Kustermann, Alessandra; Cattaneo, Cristina

    2016-06-01

    The introduction of the concept of child abuse has radically changed the mode of interaction between pediatricians and children, but also the practice of sanitary personnel in primary care centers, who are often the first to see victims of maltreatment. This study aims at illustrating the results of a questionnaire sent to family doctors, pediatricians and hospitals in Milan and surrounding areas concerning child abuse. Among all the operators, 273 returned the questionnaires. The results show scarce knowledge on how to report to judicial authority in cases of child abuse (51.5%), mainly because of lack of basilar information concerning the manner of reporting. For what concerns specific training, almost half the subjects recruited for the study admitted not to have attended any congress or meeting concerning child maltreatment in the last three years. In the same time span, more than one third has not read any scientific articles concerning child abuse. In addition, 75.6% admit to not ever having attended any professional training course concerning child maltreatment. This study highlights the scarce knowledge on the behalf of pediatricians and general practitioners regarding how to deal with child abuse and the importance of proper training programs. PMID:27176667

  4. A new novel mutation in FBN1 causes autosomal dominant Marfan syndrome in a Chinese family

    OpenAIRE

    Dong, Jiamei; Bu, Juan; Du, Wei; Li, Yuan; Jia, Yanlei; Li, Jianchang; Meng, Xiaoli; Minghui YUAN; Peng, Xiaojuan; Zhou, Aimin; Wang, Lejin

    2012-01-01

    Purpose Screening of mutations in the fibrillin-1 (FBN1) gene in a Chinese family with autosomal dominant Marfan syndrome (MFS). Methods It has been reported that FBN1 mutations account for approximately 90% of Autosomal Dominant MFS. FBN1 mutations were analyzed in a Chinese family of 36 members including 13 MFS patients. The genomic DNAs from blood leukocytes of the patients and their relatives were isolated and the entire coding region of FBN1 was amplified by PCR. The sequence of FBN1 was...

  5. Chinese Rural Women’s Decision-Making Status in Family

    Institute of Scientific and Technical Information of China (English)

    1996-01-01

    THE decision-making status of rural women in families is an important aspect which reflects the degree of their participation in development. Implementation of the Nairobi Forward-Looking Strategies for the Advancement of Women represent over the past 10 years has witnessed the gradual maturation of the production-related contract responsibility system in Chinese rural areas. Family functions have been further strengthened in both productive and social development in basic units such as production, consumption and trade. The period has been an important time for the rapid development of Chinese township

  6. The rare intracellular RET mutation p.S891A in a Chinese Han family with familial medullary thyroid carcinoma

    Indian Academy of Sciences (India)

    Xiao-Ping Qi; Rong-Xin Zhang; Jin-Lin Cao; Zhen-Guang Chen; Hang-Yang Jin; Ren-Rong Yang

    2014-06-01

    We report intracellular RET mutation in a Han Chinese pedigree with familial medullary thyroid carcinoma (FMTC). Direct sequencing of RET proto-oncogene identified a missense c.2671T > G (p.S891A) mutation in 6 of 14 family members. The single nucleotide polymorphisms c. 135A > G (p.A45A), IVS4+48A >G, c. 1296A > G (p.A432A), c. 2071G > A (p.G691S), c. 2307T > G (p.L769L) and a variant c. 833C > A (p.T278N) were also found in 6 carriers. Among 5 of the 6 carriers presented medullary thyroid carcinoma (MTC) as an isolated clinical phenotype, with elevated basal serum calcitonin (Ct). Two underwent non-normative thyroidectomy either two or four times without physician awareness or diagnosis of this disease at initial treatment, but with elevated Ct. One with elevated pre-Ct accepted total thyroidectomy (TT) with modified bilateral neck dissection (MBiND), and whose seventh posterior rib MTC metastases was confirmed 5 months after surgery. Moreover, results of two affected individuals with elevated Ct were reduced to normal after TT with MBiND or prophylactic VI compartmental dissection. However, only another carrier with the variant p.T278N had slightly elevated Ct rejected surgery and was strictly monitored. Given these case results, we suggest that screening of RET and pre-surgical Ct levels in the management of MTC patients is essential for earlier diagnosis and more normative initial treatment, that FMTC patients with cervical lymph nodes metastases may be cured by TT with MBiND, and that prophylactic VI compartmental dissection should be avoided when Ct levels are low.

  7. Novel ATPase Cu(2+ transporting beta polypeptide mutations in Chinese families with Wilson's disease.

    Directory of Open Access Journals (Sweden)

    Shaojuan Gu

    Full Text Available Wilson's disease (WD is an autosomal recessive inherited disorder caused by mutations in the ATPase Cu(2+ transporting beta polypeptide gene (ATP7B. The detailed metabolism of copper-induced pathology in WD is still unknown. Gene mutations as well as the possible pathways involved in the ATP7B deficiency were documented. The ATP7B gene was analyzed for mutations in 18 Chinese Han families with WD by direct sequencing. Cell viability and apoptosis analysis of ATP7B small interfering RNA (siRNA-treated human liver carcinoma (HepG2 cells were measured by 3-[4,5-dimethylthiazol-2-yl]-2,5-diphenyltetrazolium bromide (MTT assay and Hoechst 33342 staining. Finally, the expression of B-cell CLL/lymphoma 2 (BCL2, BCL2-associated X protein (BAX, sterol regulatory element binding protein 1 (SREBP1, and minichromosome maintenance protein 7 (MCM7 of ATP7B siRNA-treated cells were tested by real-time polymerase chain reaction (real-time PCR and Western blot analysis. Twenty different mutations including four novel mutations (p.Val145Phe, p.Glu388X, p.Thr498Ser and p.Gly837X in the ATP7B gene were identified in our families. Haplotype analysis revealed that founder effects for four mutations (p.Arg778Leu, p.Pro992Leu, p.Ile1148Thr and p.Ala1295Val existed in these families. Transfection of HepG2 cells with ATP7B siRNA resulted in decreased mRNA expression by 86.3%, 93.1% and 90.8%, and decreased protein levels by 58.5%, 85.5% and 82.1% at 24, 48 and 72 hours, respectively (All P<0.01. In vitro study revealed that the apoptotic, cell cycle and lipid metabolism pathway may be involved in the mechanism of WD. Our results revealed that the genetic cause of 18 Chinese families with WD and ATP7B deficiency-induce apoptosis may result from imbalance in cell cycle and lipid metabolism pathway.

  8. Novel ATPase Cu(2+) transporting beta polypeptide mutations in Chinese families with Wilson's disease.

    Science.gov (United States)

    Gu, Shaojuan; Yang, Huarong; Qi, Yong; Deng, Xiong; Zhang, Le; Guo, Yi; Huang, Qing; Li, Jing; Shi, Xiaoliu; Song, Zhi; Deng, Hao

    2013-01-01

    Wilson's disease (WD) is an autosomal recessive inherited disorder caused by mutations in the ATPase Cu(2+) transporting beta polypeptide gene (ATP7B). The detailed metabolism of copper-induced pathology in WD is still unknown. Gene mutations as well as the possible pathways involved in the ATP7B deficiency were documented. The ATP7B gene was analyzed for mutations in 18 Chinese Han families with WD by direct sequencing. Cell viability and apoptosis analysis of ATP7B small interfering RNA (siRNA)-treated human liver carcinoma (HepG2) cells were measured by 3-[4,5-dimethylthiazol-2-yl]-2,5-diphenyltetrazolium bromide (MTT) assay and Hoechst 33342 staining. Finally, the expression of B-cell CLL/lymphoma 2 (BCL2), BCL2-associated X protein (BAX), sterol regulatory element binding protein 1 (SREBP1), and minichromosome maintenance protein 7 (MCM7) of ATP7B siRNA-treated cells were tested by real-time polymerase chain reaction (real-time PCR) and Western blot analysis. Twenty different mutations including four novel mutations (p.Val145Phe, p.Glu388X, p.Thr498Ser and p.Gly837X) in the ATP7B gene were identified in our families. Haplotype analysis revealed that founder effects for four mutations (p.Arg778Leu, p.Pro992Leu, p.Ile1148Thr and p.Ala1295Val) existed in these families. Transfection of HepG2 cells with ATP7B siRNA resulted in decreased mRNA expression by 86.3%, 93.1% and 90.8%, and decreased protein levels by 58.5%, 85.5% and 82.1% at 24, 48 and 72 hours, respectively (All Pmechanism of WD. Our results revealed that the genetic cause of 18 Chinese families with WD and ATP7B deficiency-induce apoptosis may result from imbalance in cell cycle and lipid metabolism pathway.

  9. Identification of a novel KCNQ1 mutation associated with both Jervell and Lange-Nielsen and Romano-Ward forms of long QT syndrome in a Chinese family

    Directory of Open Access Journals (Sweden)

    Liu Jing

    2008-04-01

    Full Text Available Abstract Background Long QT syndrome (LQTS is a cardiac disorder characterized by prolonged QT intervals on electrocardiograms (ECG, ventricular arrhythmias, and sudden death. Clinically, two inherited forms of LQTS have been defined: autosomal dominant LQTS or Romano-Ward syndrome (RWS not associated with deafness and autosomal recessive LQTS or Jervell and Lange-Nielsen syndrome (JLNS associated with deafness. Methods A Chinese family with both RWS and JLNS was identified. Family members were diagnosed based on the presence of a prolonged QT interval as seen on a 12-lead ECG and a medical history of syncope, palpitation, and deafness. Mutational studies in the KCNQ1 potassium channel gene were performed using direct DNA sequence analysis and restriction length polymorphism analysis. Results The proband in the Chinese family and her brother had previously been diagnosed with JLNS, and two other members were affected with RWS. The proband was also affected with atrial fibrillation. A single nucleotide substitution of C to T at nucleotide 965 of KCNQ1 was identified, and the mutation resulted in the substitution of a threonine residue at codon 322 by a methionine residue (T322M. The novel heterozygous T322M mutation was identified in two patients with RWS, one member with borderline QTc, and two normal family members. The two JLNS patients in the family carried the homozygous T322M mutation. The T322M mutation was not found in 200 Chinese normal controls. Conclusion Our results suggest that T322M is a novel mutation that caused RWS with high intrafamilial variability in the heterozygous carriers and typical JLNS in the homozygous carriers within this Chinese family. The T322M mutation is the first mutation identified for JLNS in the Chinese population.

  10. Vision improvement in a Taiwanese (Han Chinese) family with Leber's hereditary optic neuropathy.

    Science.gov (United States)

    Lin, Hong-Zin; Pang, Cheng-Yoong; Chen, Shee-Ping; Tsai, Rong-Kung

    2012-12-01

    In this report, we describe a Taiwanese (Han Chinese) family with Leber's hereditary optic neuropathy. The family carried a mitochondrial DNA mutation (mtDNA m.14484T>C) associated with spontaneous visual improvement. A 15-year-old boy from this family was diagnosed with Leber's hereditary optic neuropathy 6 months after losing his vision. His vision recovered after 8 months of supportive treatment. His mother, older brother, and two sisters also had the same mutation and had previously experienced vision loss. In this family, there was no male predominance.

  11. Two novel STK11 mutations in three Chinese families with Peutz-Jeghers syndrome

    Institute of Scientific and Technical Information of China (English)

    ZUO Ya-gang; XU Ke-jian; SU Bin; Michael G. Ho; LIU Yue-hua

    2007-01-01

    Background Peutz-Jeghers syndrome (PJS) is an autosomal dominantly inherited disease. STK11/LKB1 gene germline mutations have been identified as responsible for PJS. In our study, we investigated the molecular basis of PJS and evaluated correlation between the STK11 mutations and the Chinese population.Methods We collected three pedigrees of PJS and screened the 9 exons and their flanking intronic sequences of STK11/LKB1 gene in the probands and normal individuals in the families using polymerase chain reaction (PCR) and direct sequencing.Results Sequencing of the STK11 gene in the probands of 3 families revealed two novel mutations (c180C→G and c998-1002delGCAGC) in exon 1 and exon 8, respectively. The mutation of c180C→G resulted in a premature termination codon. The other mutation, a deletion of five nucleotides (998-1002delGCAGC) in exon 8, predicted to generate a translational frameshift and a termination at codon 1070.Conclusions The growing number of mutations in PJS pedigrees suggests the molecular basis of PJS. STK11 gene mutation can be detected in most patients with PJS.

  12. Very low penetrance of Leber's hereditary optic neuropathy in five Han Chinese families carrying the ND1 G3460A mutation.

    Science.gov (United States)

    Tong, Yi; Sun, Yan-Hong; Zhou, Xiangtian; Zhao, Fuxin; Mao, Yijian; Wei, Qi-ping; Yang, Li; Qu, Jia; Guan, Min-Xin

    2010-04-01

    We report here the clinical, genetic, and molecular characterization of five Han Chinese families with Leber's hereditary optic neuropathy (LHON). Strikingly, there were very low penetrances of visual impairment in these Chinese families, ranging from 4.2% to 22.2%, with an average of 10.2%. In particular, only 7 (4 males/3 females) of 106 matrilineal relatives in these families exhibited the variable severity and age-at-onset in visual dysfunction. The age-at-onset for visual impairment in matrilineal relatives in these families, varied from 20 to 25 years, with an average of 21.8 years old. Molecular analysis of mitochondrial genomes identified the homoplasmic ND1 G3460A mutation and distinct sets of variants, belonging to the Asian haplogroups B5b, C4a1, D5, F1, and R9, respectively. This suggests that the G3640A mutation occurred sporadically and multiplied through evolution of the mtDNA in China. However, there was the absence of known secondary LHON-associated mtDNA mutations in these Chinese families. Very low penetrance of visual loss in these five Chinese pedigrees strongly indicated that the G3640A mutation was itself insufficient to develop the optic neuropathy. The absence of secondary LHON mtDNA mutations suggest that these mtDNA haplogroup-specific variants may not play an important role in the phenotypic expression of the G3640A mutation in those Chinese families with low penetrance of vision loss. However, nuclear modifier genes, epigenetic and environmental factors appear to be modifier factors for the phenotypic manifestation of the G3640A mutation in these Chinese families.

  13. The Cinematic Depiction of Conflict Resolution in the Immigrant Chinese Family: The Wedding Banquet and Saving Face

    OpenAIRE

    Qijun Han

    2013-01-01

    Both emphasising dilemmas that have been confronted by the Chinese-American family, Ang Lee’s The Wedding Banquet (1993) and Alice Wu’s Saving Face (2004) highlight the image of homosexuality as incompatible with traditional Chinese family values. Through detailed narrative analyses of these two films with a focus on the structure of the plot, the key characters, and camera work, this article aims to answer the questions of how traditional Chinese culture continues to play into and conflict w...

  14. Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism

    OpenAIRE

    Wang, Yun; Wang, Zhi; Chen, Mengping; Fan, Ning; Yang, Jie; Liu, Lu; Wang, Ying; Liu, Xuyang

    2015-01-01

    Background Oculocutaneous albinism (OCA) is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene (TYR) and OCA2 gene, respectively. Objective The purpose of this study was to evaluate the molecular basis of oculocutaneous albinism in four Chinese families. Patients and Methods Four non-consanguineous OCA families were included in the study. The TYR and OCA2 genes of all individuals were amplified...

  15. Understanding Chinese American Adolescents’ Developmental Outcomes: Insights From the Family Stress Model

    OpenAIRE

    Benner, Aprile D.; Kim, Su Yeong

    2010-01-01

    In this brief report, we investigated whether the Family Stress Model could be replicated with a sample of Chinese American families. Path analyses with 444 adolescents and their parents provided support for the model’s generalizability. Specifically, mothers’ and fathers’ reports of economic status (i.e., income, financial and job instability) were associated with parents’ economic stress. Economic stress and economic status were related to parental depressive symptoms, which, in turn, were ...

  16. The Relation of Prosocial Orientation to Peer Interactions, Family Social Environment and Personality of Chinese Adolescents

    Science.gov (United States)

    Ma, Hing Keung; Cheung, Ping Chung; Shek, Daniel T. L.

    2007-01-01

    This study investigated the relation of peer interactions, family social environment and personality to prosocial orientation in Chinese adolescents. The results indicated no sex differences in general prosocial orientation and inclination to help others, but sex differences in inclination to maintain an affective relationship and inclination to…

  17. Co-Ethnic Network, Social Class, and Heritage Language Maintenance among Chinese Immigrant Families

    Science.gov (United States)

    Zhang, Donghui

    2012-01-01

    This ethnographic study investigated heritage language maintenance among two distinct groups of Chinese immigrant families (Mandarin and Fujianese) from the social network perspective. The results indicated that a co-ethnic network could be a double-edged sword, which works differently on children from different social classes. While the Mandarin…

  18. Transnational business and family strategies among Chinese/Nigerian couples in Guangzhou and Lagos

    NARCIS (Netherlands)

    S. Lan

    2015-01-01

    Based on ethnographic fieldwork in Guangzhou and Lagos, this paper explores transnational trade activities and family strategies among Chinese/Nigerian interracial couples in the context of growing China/Africa trade relations and the recent tightening of China's immigration control. It examines how

  19. Job Insecurity and Remuneration in Chinese Family-Owned Business Workers

    Science.gov (United States)

    Hu, Qiao; Schaufeli, Wilmar B.

    2011-01-01

    Purpose: The purpose of this paper is to study the impact of job insecurity (past job downsizing and anticipated job downsizing) and current remuneration--via wellbeing (burnout and work engagement)--on organizational outcomes (organization commitment and low turnover intention) of Chinese family-owned business. Design/methodology/approach: The…

  20. Understanding Hong Kong Chinese Families' Experiences of an Autism/ASD Diagnosis

    Science.gov (United States)

    Tait, Kathleen; Fung, Francis; Hu, Aihua; Sweller, Naomi; Wang, Wei

    2016-01-01

    Little is known about the experience of Chinese parents of children diagnosed with autism spectrum disorders (ASD) living in the Hong Kong Special Administrative Region. Seventy-five parents of children (aged 6 months-18 years) with ASD diagnoses completed the Family Quality of Life Scale. Forty-five parents from the original surveyed cohort, also…

  1. Parent-Child Cultural Orientations and Child Adjustment in Chinese American Immigrant Families

    Science.gov (United States)

    Chen, Stephen H.; Hua, Michelle; Zhou, Qing; Tao, Annie; Lee, Erica H.; Ly, Jennifer; Main, Alexandra

    2014-01-01

    Direct and indirect/mediated relations of (a) children's and parents' cultural orientations and (b) parent-child gaps in cultural orientations to children's psychological adjustment were examined in a socioeconomically diverse sample of 258 Chinese American children (age = 6-9 years) from immigrant families. Parents reported on…

  2. Family Life Quality and Emotional Quality of Life in Chinese Adolescents with and without Economic Disadvantage

    Science.gov (United States)

    Shek, Daniel T. L.; Lee, T. Y.

    2007-01-01

    Chinese secondary school students (N = 2758) responded to measures of perceived family life quality (parenting quality and parent-child relational quality) and emotional quality of life (hopelessness, mastery, life satisfaction and self-esteem). Parenting quality included different aspects of parental behavioral control (parental knowledge,…

  3. Perceived Treatment Effectiveness of Family Therapy for Chinese Patients Suffering from Anorexia Nervosa: A Qualitative Inquiry

    Science.gov (United States)

    Ma, Joyce L. C.; Lai, Kelly

    2006-01-01

    Although family therapy has become highly acceptable in the West, its applicability and acceptability for Chinese adolescents and young women with anorexia nervosa (AN) remains unknown. In this article, we report the results of a qualitative study using post-treatment in-depth interviews to understand the subjective perceptions of sufferers of AN…

  4. Clinical evaluation and mitochondrial DNA sequence analysis in three Chinese families with Leber's hereditary optic neuropathy

    International Nuclear Information System (INIS)

    We report here the clinical, genetic, and molecular characterization of three Chinese families (WZ4, WZ5, and WZ6) with Leber's hereditary optic neuropathy (LHON). Clinical and genetic evaluations revealed the variable severity and age-of-onset in visual impairment in these families. Penetrances of visual impairment in these Chinese families were 33.3%, 35.7%, and 35.5%, respectively, with an average 34.8%. Furthermore, the average age-at-onset in those Chinese families was 17, 20, and 18 years. In addition, the ratios between affected male and female matrilineal relatives in these Chinese families were 3:0, 1:1, and 1.2:1, respectively. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the distinct sets of mtDNA polymorphism, in addition to the identical G11778A mutation associated with LHON in many families. The fact that mtDNA of those pedigrees belonged to different haplogroups F1, D4, and M10 suggested that the G11778A mutation occurred sporadically and multiplied through evolution of the mtDNA in China. However, there was the absence of functionally significant mutations in tRNA and rRNAs or secondary LHON mutations in these Chinese families. The I187T mutation in the ND1, the S99A mutation in the A6, the V254I in CO3, and I58V in ND6 mutation, showing high evolutional conservation, may contribute to the phenotypic expression of the G11778A mutation in the WZ6 pedigree. By contrast, none of mtDNA variants are evolutionarily conserved and implicated to have significantly functional consequence in WZ4 and WZ5 pedigrees. Apparently, these variants do not have a potential modifying role in the development of visual impairment associated with G11778A mutation in those two families. Thus, nuclear modifier gene(s) or environmental factor(s) seem to account for the penetrance and expressivity of LHON in these three Chinese families carrying the G11778A mutation

  5. Identifying intimate partner violence: comparing the Chinese abuse assessment screen with the Chinese revised conflict tactics scales

    OpenAIRE

    Tiwari, A.; Fong, DYT; Chan, KL; Leung, WC; Parker, B.; Ho, PC

    2007-01-01

    Objective To assess the measurement accuracy and the utility of the Chinese Abuse Assessment Screen (AAS). Design A cross-sectional study. Setting An antenatal clinic of a public hospital and a community centre in Hong Kong. Sample A total of 257 Chinese women consisting of 100 pregnant women and 157 nonpregnant women. Method The Chinese AAS was administered first, followed by the Chinese Revised Conflict Tactics Scales (CTS2). This was performed in the same sitting, and each participant was ...

  6. Mitochondrial gene mutations and type 2 diabetes in Chinese families

    Institute of Scientific and Technical Information of China (English)

    LI Ming-zhen; YU De-min; YU Pei; LIU De-min; WANG Kun; TANG Xin-zhi

    2008-01-01

    Background Numerous mitochondrial DNA mutations are significantly correlated with development of diabetes. This study investigated mitochondrial gene, point mutations in patients with type 2 diabetes and their families. Methods Unrelated patients with type 2 diabetes(n=826)were randomly recruited; unrelated and nondiabetic subjects (n=637)served as controls. The clinical and biochemical data of the participants were collected. Total genome was extracted from peripheral leucocytes. Polymerase chain reaction, restriction fragment length polymorphism (PCR-RFLP)and clonig techniques were used to screen mitochondrial genes including np3316,np3394 and np3426 in the ND1 region and np3243 in the tRNALeu (UUR). Results In 39 diabetics with one or more mitochondrial gene point mutations, the prevalence(4.7%,39/826)of mtDNA mutations was higher than that(0.7%,5/637)in the controls. The identical mutation was found in 23 of 43 tested members from three pedigrees. Affected family members presented with variable clinical features ranging from normal glucose tolerance to impaired glucose tolerance (IGT)(n=2),impaired fasting glucose(IFG)(n=1)to type 2 diabetes (n=13)with 3 family members suffering from hearing loss. Conclusions Type 2 diabetes in China is associated with several mitochondrial gene mutations. Aged patients with diabetic family history had a higher prevalence of mutation and various clinical pictures. Mitochondrial gene mutation might be one of the genetic factors contributing to diabetic familial clustering.

  7. Culture- and Immigration-Related Stress Faced by Chinese American Families with a Patient Having Schizophrenia.

    Science.gov (United States)

    Kung, Winnie W

    2016-07-01

    The impact of culture and immigration on the experience of Chinese American families with a member having schizophrenia is explored within the frameworks of family systems and stress and coping. This qualitative study was conducted within an intervention study of family psychoeducation using therapists' session notes from 103 family sessions and 13 relatives' group sessions from nine patients and 19 relatives. The high stigma attached to mental illness leading to social isolation, and families' devotion to caregiving exacerbated caregiver burden. Taboo against discussing dating and sexuality and the consideration of arranged marriages caused unique stress. The insecurity as immigrants and shortage of bilingual services were related to greater enmeshment within these families. Implications on research methodology and practice are discussed. PMID:27388227

  8. Identifying vital edges in Chinese air route network via memetic algorithm

    CERN Document Server

    Du, Wen-Bo; Yan, Gang; Lordan, Oriol; Cao, Xian-Bin

    2016-01-01

    Due to its rapid development in the past decade, air transportation system has attracted considerable research attention from diverse communities. While most of the previous studies focused on airline networks, here we systematically explore the robustness of the Chinese air route network, and identify the vital edges which form the backbone of Chinese air transportation system. Specifically, we employ a memetic algorithm to minimize the network robustness after removing certain edges hence the solution of this model is the set of vital edges. Counterintuitively, our results show that the most vital edges are not necessarily the edges of highest topological importance, for which we provide an extensive explanation from the microscope of view. Our findings also offer new insights to understanding and optimizing other real-world network systems.

  9. The Development of Children's Ethnic Identity in Immigrant Chinese Families in Canada: The Role of Parenting Practices and Children's Perceptions of Parental Family Obligation Expectations

    Science.gov (United States)

    Su, Tina F.; Costigan, Catherine L.

    2009-01-01

    Parents' role in children's ethnic identity development was examined among 95 immigrant Chinese families with young adolescents living in Canada. Children reported their feelings of ethnic identity and perceptions of parental family obligation expectations. Parents reported their family obligation expectations; parents and children reported on…

  10. Family and Personal Adjustment of Economically Disadvantaged Chinese Adolescents in Hong Kong

    Directory of Open Access Journals (Sweden)

    Daniel T. L. Shek

    2012-01-01

    Full Text Available This study attempted to examine the relationship between poverty and adolescent developmental outcomes in the family and personal domains in 3,328 Chinese secondary school students in Hong Kong. Developmental outcomes included positive youth development constructs, problem behaviors, perceived family interaction, and parental parenting. Results showed that adolescents experiencing poverty did not differ from nonpoor adolescents in terms of risk behavior and in most indicators of positive youth development. On the other hand, adolescents with economic disadvantage displayed lower levels of positive identity, family interaction, and perceived paternal parenting than did those without economic disadvantage.

  11. Genomewide scan identifies susceptibility locus for dyslexia on Xq27 in an extended Dutch family.

    NARCIS (Netherlands)

    Kovel, C.G.F. de; Hol, F.A.; Heister, J.G.A.M.; Willemen, J.J.H.T.; Sandkuijl, L.A.; Franke, B.; Padberg, G.W.A.M.

    2004-01-01

    CONTEXT: Dyslexia is a common disorder with a strong genetic component, but despite significant research effort, the aetiology is still largely unknown. OBJECTIVE: To identify loci contributing to dyslexia risk. METHODS: This was a genomewide linkage analysis in a single large family. Dutch families

  12. A Comparative Study of Chinese Family Values and American Family Values Influenced by Mass Media

    Institute of Scientific and Technical Information of China (English)

    张小诗

    2014-01-01

    Different context of mass media between countries can be reflected on the view of family values. In this paper, the au-thor is taking family values as an example to explore the differences between China and America.It is come to a conclusion that mass media have a big influence on family values in both countries.The comparison of different family values also give an inspira-tion to the development of media industry in China.

  13. Parent-Adolescent Discrepancies in Perceived Parenting Characteristics and Adolescent Developmental Outcomes in Poor Chinese Families.

    Science.gov (United States)

    Leung, Janet T Y; Shek, Daniel T L

    2014-01-01

    We examined the relationships between parent-adolescent discrepancies in perceived parenting characteristics (indexed by parental responsiveness, parental demandingness, and parental control) and adolescent developmental outcomes (indexed by achievement motivation and psychological competence) in poor families in Hong Kong. A sample of 275 intact families having at least one child aged 11-16 experiencing economic disadvantage were invited to participate in the study. Fathers and mothers completed the Parenting Style Scale and Chinese Parental Control Scale, and adolescents completed the Social-Oriented Achievement Motivation Scale and Chinese Positive Youth Development Scale in addition to paternal and maternal Parenting Style Scale and Chinese Parental Control Scale. Results indicated that parents and adolescents had different perceptions of parental responsiveness, parental demandingness, and paternal control, with adolescents generally perceived lower levels of parenting behaviors than did their parents. While father-adolescent discrepancy in perceived paternal responsiveness and mother-adolescent discrepancy in perceived maternal control negatively predicted adolescent achievement motivation, mother-adolescent discrepancy in perceptions of maternal responsiveness negatively predicted psychological competence in adolescents experiencing economic disadvantage. The present findings provided support that parent-child discrepancies in perceived parenting characteristics have negative impacts on the developmental outcomes of adolescents experiencing economic disadvantage. The present study addresses parent-child discrepancies in perceived parental behaviors as "legitimate" constructs, and explores their links with adolescent psychosocial development, which sheds light for researchers and clinical practitioners in helping the Chinese families experiencing economic disadvantage.

  14. Parent-Adolescent Discrepancies in Perceived Parenting Characteristics and Adolescent Developmental Outcomes in Poor Chinese Families.

    Science.gov (United States)

    Leung, Janet T Y; Shek, Daniel T L

    2014-01-01

    We examined the relationships between parent-adolescent discrepancies in perceived parenting characteristics (indexed by parental responsiveness, parental demandingness, and parental control) and adolescent developmental outcomes (indexed by achievement motivation and psychological competence) in poor families in Hong Kong. A sample of 275 intact families having at least one child aged 11-16 experiencing economic disadvantage were invited to participate in the study. Fathers and mothers completed the Parenting Style Scale and Chinese Parental Control Scale, and adolescents completed the Social-Oriented Achievement Motivation Scale and Chinese Positive Youth Development Scale in addition to paternal and maternal Parenting Style Scale and Chinese Parental Control Scale. Results indicated that parents and adolescents had different perceptions of parental responsiveness, parental demandingness, and paternal control, with adolescents generally perceived lower levels of parenting behaviors than did their parents. While father-adolescent discrepancy in perceived paternal responsiveness and mother-adolescent discrepancy in perceived maternal control negatively predicted adolescent achievement motivation, mother-adolescent discrepancy in perceptions of maternal responsiveness negatively predicted psychological competence in adolescents experiencing economic disadvantage. The present findings provided support that parent-child discrepancies in perceived parenting characteristics have negative impacts on the developmental outcomes of adolescents experiencing economic disadvantage. The present study addresses parent-child discrepancies in perceived parental behaviors as "legitimate" constructs, and explores their links with adolescent psychosocial development, which sheds light for researchers and clinical practitioners in helping the Chinese families experiencing economic disadvantage. PMID:24482569

  15. Analysis on the Susceptibility Genes in Two Chinese Pedigrees with Familial Parkinson's Disease

    OpenAIRE

    Changshui Xu; Jun Xu; Yanmin Zhang; Jianjun Ma; Hideshi Kawakami; Hirofumi Maruyama; Masaki Kamada

    2010-01-01

    Objective. To screen the susceptibility genes in Chinese pedigrees with early-onset familial Parkinson's disease (FPD). Methods. Fifty-one genomic DNA samples extracted from two Chinese pedigrees with FPD, the alpha-synuclein genes (SNCA), the leucine-rich repeat kinase 2(LRRK2), PINK1(PTEN-induced putative kinase 1), PARK7(Protein DJ1), PARK2(Parkinson juvenile disease protein 2), the glucocerebrosidase (GBA), and ATP(Ezrin-binding protein PACE-1), were sequenced by the use of polymerase ch...

  16. Familial aggregation of forearm bone mineral density in Chinese

    International Nuclear Information System (INIS)

    Osteoporosis is a major public health concern and its prevalence can be predicted based on forearm bone mineral density (BMD). This study is to investigate the familial aggregation of forearm BMD in a population-based, cross-sectional study in Anhui, China. Information on sociodemographic and environmental variables was obtained from 1,636 subjects from 409 nuclear families (including mother, father, and their first two children) by a standardized questionnaire. The forearm BMD was measured by peripheral dual-energy X-ray absorptiometry (pDXA). Using generalized additive models with a sequential adjustment for covariates, it was clearly indicated that the forearm BMD of the mother, the father, and the first sibling each had a significant and independent relation to the forearm BMD of the second sibling. Furthermore, using multiple logistic regression, the second sibling had an odds ratio (OR) of 5.3 (95%CI: 2.0-14.5) of having an extremely low (bottom 10th percentile) proximal forearm BMD and an OR of 4.3 (95%CI: 1.6-12.0) of having an extremely low distal forearm BMD when the parental mean forearm BMD was low and the first sibling's forearm BMD was low. Our findings showing strong familial aggregation of both proximal and distal forearm BMD values suggest that genetic factors play a significant role in determining both traits

  17. Family- and population-based designs identify different rare causal variants

    OpenAIRE

    Zhang Xue; He Hua; Ding Lili; Baye Tesfaye M; Kurowski Brad G; Martin Lisa J

    2011-01-01

    Abstract Both family- and population-based samples are used to identify genetic variants associated with phenotypes. Each strategy has demonstrated advantages, but their ability to identify rare variants and genes containing rare variants is unclear. To compare these two study designs in the identification of rare causal variants, we applied various methods to the population- and family-based data simulated by the Genetic Analysis Workshop 17 with knowledge of the simulated model. Our results...

  18. Genetic characterization of a Chinese family with familial idiopathic pulmonary fibrosis

    Institute of Scientific and Technical Information of China (English)

    ZHANG Xin; JIANG Jun; CHEN Wei-jun; SU Long-xiang; XIE Li-xin

    2012-01-01

    Background Idiopathic pulmonary fibrosis (IPF) is a chronic inflammatory interstitial lung disease with an unknown cause.Recent studies have shown that genetic factors play an important role in the pathogenesis of IPF.Methods To explore the genetic background of patients with IPF,a candidate gene approach was employed to screen for mutations in seven genes among members with familial IPF in mainland of China.Results Within six of the candidate genes,a total of 31 point mutations were identified.Among the missense mutations,the SFTPA1 exon 6 CAG>AAG (GIn238Lys) and SFTPB exon 2 CAC>CCC (His2Pro) mutations caused changes in the physical and chemical properties of amino acids.Each sequence alteration was identified in sporadic IPF patients,control specimens (pneumonia patients and healthy persons).Genotype frequencies and allele frequencies of codon 238 in exon 6 of SFTFA1 were noted significantly higher in patients with IPF than those in other two control subjects.The computational protein structure prediction by protein homology modeling confirmed differences in three-dimensional structure between mutant SFTPA1 and original SFTPA1.Conclusions Although the functions of the mutant candidate genes vary,these genes may ultimately result in damage to alveolar epithelial cells,initiating the progress of pulmonary fibrosis.In particular,while pathophysiological mechanisms need to be illustrated,the GIn238Lys missense variant of exon 6 in the SFTPA1 may have potential susceptibility in the development of IPF,which was shown in patients with sporadic IPF with a statistically higher frequency.

  19. Life Strain, Social Control, Social Learning, and Delinquency: The Effects of Gender, Age, and Family SES Among Chinese Adolescents.

    Science.gov (United States)

    Bao, Wan-Ning; Haas, Ain; Xie, Yunping

    2016-09-01

    Very few studies have examined the pathways to delinquency and causal factors for demographic subgroups of adolescents in a different culture. This article explores the effects of gender, age, and family socioeconomic status (SES) in an integrated model of strain, social control, social learning, and delinquency among a sample of Chinese adolescents. ANOVA is used to check for significant differences between categories of demographic groups on the variables in the integrated model, and the differential effects of causal factors in the theoretical path models are examined. Further tests of interaction effects are conducted to compare path coefficients between "high-risk" youths (i.e., male, mid-teen, and low family SES adolescents) and other subgroups. The findings identified similar pathways to delinquency across subgroups and clarified the salience of causal factors for male, mid-teen, and low SES adolescents in a different cultural context. PMID:25850102

  20. Analysis of low-density lipoprotein receptor gene mutations in a Chinese patient with clinically homozygous familial hypercholesterolemia

    Institute of Scientific and Technical Information of China (English)

    曹守春; 王绿娅; 秦彦文; 蔺洁; 吴邦俊; 刘舒; 潘晓冬; 杜兰平; 陈保生

    2003-01-01

    Objective To screen the point mutation of the low-density lipoprotein receptor (LDL-R) gene in Chinese familial hypercholesterolemia (FH) patients, characterize the relationship between the genotype and the phenotype and discuss the molecular pathological mechanism of FH. Methods A patient with clinical phenotype of homozygous FH and her parents were investigated for mutations in the promoter and all eighteen exons of the LDL-R gene. Screening was carried out using Touch-down PCR and direct DNA sequencing; multiple alignment analysis by DNASIS 2.5 was used to find base alteration, and the LDL-R gene mutation database was searched to identify the alteration. In addition, the apolipoprotein B gene (apo B) was screened for known mutations (R3500Q) that cause familial defective apo B100 (FDB) by polymerase chain reaction-restriction fragment length polymorphism (PCR-RFLP).Results Two new heterozygous mutations in exons 4 and 9 of the LDL-R gene were identified in the proband (C122Y and T383I) as well as her parents. Both of the mutations have not been published in the LDL-R gene mutation database. No mutation of apo B100 (R3500Q) was observed. Conclusion Two new mutations (C112Y and T383I) were found in the LDL-R gene, which may result in FH and may be particularly pathogenetic genotypes in Chinese people.

  1. [The mitochondrial ND5 T12338C mutation may be associated with Leber's hereditary optic neuropathy in two Chinese families].

    Science.gov (United States)

    Ji, Yan-Chun; Liu, Xiao-Ling; Zhao, Fu-Xin; Zhang, Juan-Juan; Zhang, Yu; Zhou, Xiang-Tian; Qu, Jia; Guan, Min-Xin

    2011-04-01

    Leber's hereditary optic neuropathy (LHON) associated with mitochondrial DNA mutation is a maternally inherited eye disease. We reported here the clinical, genetic and molecular characterization of two Han Chinese families with Leber's hereditary optic neuropathy. Ophthalmologic examinations revealed that the variable severity and age-of-onset in visual impairment among probands and other matrilineal relatives of these families. Strikingly, there were extremely low penetrances of visual impairment in these families. Sequence analysis of complete mitochondrial genomes in these pedigrees identified the homoplasmic ND4 G11696A and ND5 T12338C mutation and distinct sets of polymorphism belonging to haplogroups F2. It is well known that mitochondrial DNA ND4 G11696A is associated with LHON. The ND5 T12338C mutation resulted in replacement of the first amino acid, translation-initiating methionine with a threonine, and shortening two amino acids of ND5. This mutation also locates in two nucleotides adjacent to the 3' end of the tRNALeu(Cun). Thus, this mutation may alter structural formation and stabilization of functional tRNA, thereby leading to a failure in protein synthesis and mitochondrial dysfunction involved in visual impairment. Therefore, the ND4 G11696A and ND5 T12338C mutation is likely associated with LHON in these two Chinese families. But these families exhibited extremely low penetrances of visual impairment. It suggests that other factors, such as nuclear modifier gene(s) or environmental factor(s), may play a role in the phenotypic expression of the LHON-associated ND4 G11696A and ND5 T12338C mutation.

  2. A Novel WRN Frameshift Mutation Identified by Multiplex Genetic Testing in a Family with Multiple Cases of Cancer.

    Science.gov (United States)

    Yang, Liu; Wang, Guosheng; Zhao, Xinyi; Ye, Song; Shen, Peng; Wang, Weilin; Zheng, Shusen

    2015-01-01

    Next-generation sequencing technology allows simultaneous analysis of multiple susceptibility genes for clinical cancer genetics. In this study, multiplex genetic testing was conducted in a Chinese family with multiple cases of cancer to determine the variations in cancer predisposition genes. The family comprises a mother and her five daughters, of whom the mother and the eldest daughter have cancer and the secondary daughter died of cancer. We conducted multiplex genetic testing of 90 cancer susceptibility genes using the peripheral blood DNA of the mother and all five daughters. WRN frameshift mutation is considered a potential pathogenic variation according to the guidelines of the American College of Medical Genetics. A novel WRN frameshift mutation (p.N1370Tfs*23) was identified in the three cancer patients and in the youngest unaffected daughter. Other rare non-synonymous germline mutations were also detected in DICER and ELAC2. Functional mutations in WRN cause Werner syndrome, a human autosomal recessive disease characterized by premature aging and associated with genetic instability and increased cancer risk. Our results suggest that the WRN frameshift mutation is important in the surveillance of other members of this family, especially the youngest daughter, but the pathogenicity of the novel WRN frameshift mutation needs to be investigated further. Given its extensive use in clinical genetic screening, multiplex genetic testing is a promising tool in clinical cancer surveillance.

  3. Work-family conflict and burnout among Chinese female nurses: the mediating effect of psychological capital

    Directory of Open Access Journals (Sweden)

    Wang Yang

    2012-10-01

    Full Text Available Abstract Background Burnout among nurses not only threatens their own health, but also that of their patients. Exploring risk factors of nurse’ burnout is important to improve nurses’ health and to increase the quality of health care services. This study aims to explore the relationship between work-family conflict and burnout among Chinese female nurses and the mediating role of psychological capital in this relationship. Methods This cross-sectional study was performed during the period of September and October 2010. A questionnaire that consisted of the Maslach Burnout Inventory-General Survey (MBI-GS, the work-family conflict scale and the psychological capital questionnaire (PCQ-24 scale, as well as demographic and working factors, was distributed to nurses in Liaoning province, China. A total of 1,332 individuals (effective response rate: 78.35% became our subjects. Hierarchical linear regression analyses were performed to explore the mediating role of psychological capital. Results Both work interfering family conflict and family interfering work conflict were positively related with emotional exhaustion and cynicism. However, work interfering family conflict was positively related with professional efficacy whereas family interfering work conflict was negatively related with it. Psychological capital partially mediated the relationship of work interfering family conflict with emotional exhaustion and cynicism; and partially mediated the relationship of family interfering work conflict with emotional exhaustion, cynicism and professional efficacy. Conclusion Work-family conflict had effects on burnout and psychological capital was a mediator in this relationship among Chinese nurses. Psychological capital was a positive resource for fighting against nurses’ burnout.

  4. Identification and molecular characterization of two novel mutations in COL1A2 in two Chinese families with osteogenesis imperfecta

    Institute of Scientific and Technical Information of China (English)

    Zhenping Xu; Yulei Li; Xiangyang Zhang; Fanming Zeng; Mingxiong Yuan; Mugen Liu; Qing Kenneth Wang; Jing Yu Liu

    2011-01-01

    Osteogenesis imperfecta (OI, also known as brittle bone disease) is caused mostly by mutations in two type Ⅰ collagen genes, COL1A1 and COL1A2 encoding the pro-α1 (Ⅰ) and pro-α2 (Ⅰ) chains of type Ⅰ collagen, respectively. Two Chinese families with autosomal dominant OI were identified and characterized. Linkage analysis revealed linkage of both families to COL1A2 on chromosome 7q21.3-q22.1. Mutational analysis was carried out using direct DNA sequence analysis. Two novel missense mutations, c.3350A>G and c.3305G>C, were identified in exon 49 of COL1A2 in the two families, respectively. The c.3305G>C mutation resulted in substitution of a glycine residue (G) by an alanine residue (A) at codon 1102 (p.G1102A), which was found to be mutated into serine (S), argine (R), aspartic acid (D), or valine (V) in other families. The c.3350A>G variant may be a de novo mutation resulting in p.Y1117C. Both mutations co-segregated with OI in respective families, and were not found in 100 normal controls. The G1102 and Y1117 residues were evolutionarily highly conserved from zebrafish to humans. Mutational analysis did not identify any mutation in the COX-2 gene (a modifier gene of OI). This study identifies two novel mutations p.G1102A and p.Y1117C that cause OI, significantly expands the spectrum of COL1A2 mutations causing OI, and has a significant implication in prenatal diagnosis of OI.

  5. Neighborhood characteristics, parenting styles, and children's behavioral problems in Chinese American immigrant families.

    Science.gov (United States)

    Lee, Erica H; Zhou, Qing; Ly, Jennifer; Main, Alexandra; Tao, Annie; Chen, Stephen H

    2014-04-01

    Using data from a socioeconomically diverse sample of Chinese American children (n = 258, aged 6-9 years) in immigrant families, we examined the concurrent relations among neighborhood economic disadvantage and concentration of Asian residents, parenting styles, and Chinese American children's externalizing and internalizing problems. Neighborhood characteristics were measured with 2000 U.S. Census tract-level data, parents (mostly mothers) rated their own parenting styles, and parents and teachers rated children's behavioral problems. Path analysis was conducted to test two hypotheses: (a) parenting styles mediate the relations between neighborhood characteristics and children's behavioral problems, and (b) children's behavioral problems mediate the relations between neighborhood and parenting styles. We found that neighborhood Asian concentration was positively associated with authoritarian parenting, which in turn was associated with Chinese American children's higher externalizing and internalizing problems (by parents' reports). In addition, neighborhood economic disadvantage was positively related to children's externalizing problems (by parents' reports), which in turn predicted lower authoritative parenting. The current results suggest the need to consider multiple pathways in the relations among neighborhood, family, and child adjustment, and they have implications for the prevention and intervention of behavioral problems in Chinese American children.

  6. Neighborhood characteristics, parenting styles, and children's behavioral problems in Chinese American immigrant families.

    Science.gov (United States)

    Lee, Erica H; Zhou, Qing; Ly, Jennifer; Main, Alexandra; Tao, Annie; Chen, Stephen H

    2014-04-01

    Using data from a socioeconomically diverse sample of Chinese American children (n = 258, aged 6-9 years) in immigrant families, we examined the concurrent relations among neighborhood economic disadvantage and concentration of Asian residents, parenting styles, and Chinese American children's externalizing and internalizing problems. Neighborhood characteristics were measured with 2000 U.S. Census tract-level data, parents (mostly mothers) rated their own parenting styles, and parents and teachers rated children's behavioral problems. Path analysis was conducted to test two hypotheses: (a) parenting styles mediate the relations between neighborhood characteristics and children's behavioral problems, and (b) children's behavioral problems mediate the relations between neighborhood and parenting styles. We found that neighborhood Asian concentration was positively associated with authoritarian parenting, which in turn was associated with Chinese American children's higher externalizing and internalizing problems (by parents' reports). In addition, neighborhood economic disadvantage was positively related to children's externalizing problems (by parents' reports), which in turn predicted lower authoritative parenting. The current results suggest the need to consider multiple pathways in the relations among neighborhood, family, and child adjustment, and they have implications for the prevention and intervention of behavioral problems in Chinese American children. PMID:24041263

  7. Workplace discrimination predicting racial/ethnic socialization across African American, Latino, and Chinese families.

    Science.gov (United States)

    Hagelskamp, Carolin; Hughes, Diane L

    2014-10-01

    Informed by Kohn and Schooler's (1969) occupational socialization framework, this study examined linkages between racial/ethnic minority mothers' perceptions of racial/ethnic discrimination in the workplace and adolescents' accounts of racial/ethnic socialization in the home. Data were collected from 100 mother-early adolescent dyads who participated in a longitudinal study of urban adolescents' development in the Northeastern United States, including African American, Latino, and Chinese families. Mothers and adolescents completed surveys separately. We found that when mothers reported more frequent institutional discrimination at work, adolescents reported more frequent preparation for bias messages at home, across racial/ethnic groups. Mothers' experiences of interpersonal prejudice at work were associated with more frequent cultural socialization messages among African American and Latino families. Chinese youth reported fewer cultural socialization messages when mothers perceived more frequent interpersonal prejudice at work. Findings are discussed in the context of minority groups' distinct social histories and economic status in the United States. PMID:25133408

  8. Personal experiences of cystic fibrosis (CF) carrier couples prospectively identified in CF families

    NARCIS (Netherlands)

    Henneman, L; Kooij, L; Bouman, K; ten Kate, LP

    2002-01-01

    This qualitative study explores the experiences of cystic fibrosis (CF) carrier couples, prospectively identified in CF families, and the impact of the resulting genetic risk on reproductive behavior. Of the 12 couples identified until 1997, seven couples participated in semistructured interviews an

  9. A Chinese familial growth hormone deficiency with a deletion of 7.1 kb of DNA.

    OpenAIRE

    He, Y A; Chen, S S; Wang, Y. X; Lin, X. Y.; D. F. Wang

    1990-01-01

    Using restriction endonuclease analysis and a human growth hormone cDNA probe, we have found a Chinese family with a human growth hormone gene deletion. Two affected sibs are homozygous for a deletion of approximately 7.1 kb of DNA, which contains the normal human growth hormone gene. The patients' parents and grandmothers are heterozygous for the deleted gene. Their grandfathers are normal and homozygous for the hGH-N gene. All of them have normal stature.

  10. Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated ND1 G3460A mutation in Chinese families.

    Science.gov (United States)

    Ji, Yanchun; Liang, Min; Zhang, Juanjuan; Zhang, Minglian; Zhu, Jinping; Meng, Xiangjuan; Zhang, Sai; Gao, Min; Zhao, Fuxin; Wei, Qi-Ping; Jiang, Pingping; Tong, Yi; Liu, Xiaoling; Qin Mo, Jun; Guan, Min-Xin

    2014-03-01

    To investigate the pathophysiology of Leber's hereditary optic neuropathy (LHON), a cohort of 1164 Han Chinese subjects with LHON were screened for ND1 G3460A mutation. A total of 295 subjects from 16 Han Chinese families carrying the G3460A mutation underwent a clinical and genetic evaluation and molecular analysis of mitochondrial (mt)DNA. The incidence of G3460A mutation was 1.4% in this cohort of Chinese subjects with LHON. Twenty-seven (20 males/7 females) of 109 matrilineal relatives among 10 Chinese pedigrees carrying this mutation exhibited a wide range of severity and age-at-onset in visual impairment. Penetrances of optic neuropathy ranged from 7.1% to 50%, with the average of 24.5%. The age-at-onset of 27 affected matrilineal relatives varied from 10 to 40 years, with the average of 22 years. Molecular analysis identified the homoplasmic G3460A mutation and distinct sets of variants belonging to eight haplogroups. Haplogroup M with G3460A mutation was of higher frequency than those in controls. The penetrances of visual loss in families carrying mitochondrial DNA haplogroups A, B and M were higher than those in other families. Furthermore, haplogroup-specific variants tRNA(Ser(AGY)) A12223G, tRNA(Thr) G15927A and tRNA(Glu) A14693G may enhance the penetrance of visual loss in these families. The G3460A mutation occurred through recurrent origins and founder events in Chinese population. Mitochondrial modifiers may modulate the penetrance and expressivity of optic neuropathy among Chinese pedigrees carrying the G3460A mutation. Thus, our findings may provide new insights into the understanding of pathophysiology and valuable information on the management of LHON.

  11. Mutation Analysis in the BRCA1 Gene in Chinese Breast Cancer Families

    Institute of Scientific and Technical Information of China (English)

    WUZhengyan; ZHENLinlin; FANPing

    2003-01-01

    Objective: To study the mutation of BRCA1 gene in Chinese breast cancer families. Methods:Fifteen families were selected, involving 41 members, consisting of 23 breast cancer patients. Using poly-merase chain reaction and single stranded conformation polymorphism (PCR-SSCP), and subsequent DNA sequencing, the mutation of BRCA1 genes were analyzed. Results: Four mutations were found in all fam-ilies, and the proportion of mutation was 26.7% (4/15) in breast cancer families. One of the 4 mutations was 2228 insC, resulting in chain termination at codon 711. The remaining 3 mutations were 1884A→T and 3232A→G, resulting in single amino acid change respectively. Conclusion: BRCA1 is a breast cancer susceptibility gene. The relatively low proportion and frequency of BRCA1 mutations in our study hints additional BRCA genes existed.

  12. Family material hardship and chinese adolescents' problem behaviors: a moderated mediation analysis.

    Directory of Open Access Journals (Sweden)

    Wenqiang Sun

    Full Text Available In the current study, we examined a moderated mediation model using the risk and resilience framework. Specifically, the impact of family material hardship on adolescent problem behaviors was examined in a Chinese sample; we used the family stress model framework to investigate parental depression and negative parenting as potential mediators of the relation between family material hardship and adolescents' problem behaviors. In addition, based on resilience theory, we investigated adolescents' resilience as a potential protective factor in the development of their internalizing and externalizing problems. Participants included 1,419 Chinese adolescents (mean age = 15.38 years, SD = 1.79 and their primary caregivers. After controlling for covariates (age, gender, location of family residence, and primary caregiver, we found that parental depression and negative parenting mediated the association between family material hardship and adolescents' problem behaviors. Furthermore, the adolescent resilience moderated the relationship between negative parenting and internalizing problems in a protective-stabilizing pattern; in addition, a protective-reactive pattern also emerged when adolescent resilience was examined as a moderator of the relationship between negative parenting and externalizing problems. These findings contribute to a comprehensive understanding of the mechanisms of risk and resilience in youth development. Moreover, the findings have important implications for the prevention of adolescent problem behaviors.

  13. Family material hardship and chinese adolescents' problem behaviors: a moderated mediation analysis.

    Science.gov (United States)

    Sun, Wenqiang; Li, Dongping; Zhang, Wei; Bao, Zhenzhou; Wang, Yanhui

    2015-01-01

    In the current study, we examined a moderated mediation model using the risk and resilience framework. Specifically, the impact of family material hardship on adolescent problem behaviors was examined in a Chinese sample; we used the family stress model framework to investigate parental depression and negative parenting as potential mediators of the relation between family material hardship and adolescents' problem behaviors. In addition, based on resilience theory, we investigated adolescents' resilience as a potential protective factor in the development of their internalizing and externalizing problems. Participants included 1,419 Chinese adolescents (mean age = 15.38 years, SD = 1.79) and their primary caregivers. After controlling for covariates (age, gender, location of family residence, and primary caregiver), we found that parental depression and negative parenting mediated the association between family material hardship and adolescents' problem behaviors. Furthermore, the adolescent resilience moderated the relationship between negative parenting and internalizing problems in a protective-stabilizing pattern; in addition, a protective-reactive pattern also emerged when adolescent resilience was examined as a moderator of the relationship between negative parenting and externalizing problems. These findings contribute to a comprehensive understanding of the mechanisms of risk and resilience in youth development. Moreover, the findings have important implications for the prevention of adolescent problem behaviors. PMID:26010256

  14. Family Caregiver's Perception of Alzheimer's disease and caregiving in Chinese culture.

    Science.gov (United States)

    Dai, Baozhen; Mao, Zongfu; Wu, Bei; Mei, Y John; Levkoff, Sue; Wang, Huali

    2015-01-01

    This study examined the perception of Alzheimer's disease (AD) and caregiving among family caregivers of individuals with mild cognitive impairment (MCI) and AD in China. In-depth semistructured interviews were conducted with 46 family caregivers of individuals with cognitive impairment in 2009 in Wuhan and Beijing, China. Participants included 38 spouses, 7 adult children, and 1 sibling, aged between 41 and 85 years old. The findings showed that all family caregivers thought the Chinese terminology of AD laonian chidai, brought discrimination to individuals with cognitive impairment. Caregivers of individuals with AD experienced burden and desired an increase of formal services. Traditional beliefs of respecting elders and caring for extended family members were held among family caregivers of individuals with cognitive impairment, and there was nearly no difference found between caregivers of AD and those of MCI. It implied that traditional culture provided positive influences on caring for elders with cognitive impairment. An alternative term for MCI may contribute to further reducing the discrimination brought by the old Chinese terminology of AD laonian chidai. Development of formal services for elders with cognitive impairment may contribute to reducing caregivers' worries about future caregiving. PMID:25602761

  15. A new mutation of PTCH gene in a Chinese family with nevoid basal cell carcinoma syndrome

    Institute of Scientific and Technical Information of China (English)

    L(U) Yan; ZHU Han-guang; YE Wei-min; ZHANG Ming-bin; HE Di; CHEN Wan-tao

    2008-01-01

    Background Nevoid basal cell carcinoma syndrome(NBCCS)is a rare autosomal dominant disease characterized by a combination of development anomalies and a predisposition to tumour formation.Mutation of patched gene(PTCH),considered the molecular defect of NBCCS,in a Chinese NBCCS family was investigated in this study.Methods Genomic DNA was isolated from blood samples of all 12 members of this family.The mutated PTCH gene was screened by polymerase chain reaction amplification and di rect sequencing.Results A new mutation of 3 bp(GAT deletion)was found in all seven affected members of this family.This mutation caused one aspartate deletion in the fourth transmembrane domain of the PTCH protein located within the sterol sensing domain(SSD).This deletion was not found in any unaffected members of this family nor in 200 controI samples.Conclusions Our findings suggest that one 3-bp deletion in PTCH gene was the cause of nevoid basal cell carcinoma in a Chinese family through affecting the conformation and function of PTCH protein.

  16. The Intergenerational Transmission of the Value of Children in Contemporary Chinese Families: Taiwan and Mainland China Compared

    Directory of Open Access Journals (Sweden)

    Chin-Chun Yi

    2014-10-01

    Full Text Available Dieser Beitrag liegt nur in englischer Sprache vor.While fertility has been drastically declining in East Asia, mechanisms accounting for the current trend vary. One noticeable mechanism documented is that the changing value of children affects couples’ fertility decisions which in turn affect their subsequent fertility behaviour. This study will examine the intergenerational transmission of the value of children (VOC among grandmothers, mothers and teenagers in two Chinese societies: Taiwan and Mainland China. We assume that cultural homogeneity interacts with political and social heterogeneity and may result in different values regarding having or not having children. Data are taken from two corresponding VOC surveys from Taiwan (2005-2007 and from Mainland China (2002-2003. We first compare the value of children for Taiwan and Mainland China with special attention to cultural aspects. Two identified factor solutions are generated for both positive (traditional and emotional and negative (emotional/psychological and familial/social VOC. Analyses show that intergenerational transmission of the VOC among three generations is more likely to occur for a positive VOC in the Chinese Mainland sample. We suspect that actual fertility experience results in greater resemblance on the VOC between grandmothers and mothers in both research settings. Among selected structural mechanisms, only rural-urban background has an effect on patterns of intergenerational transmission. The paper ends with a discussion on the importance of culture in explaining the intergenerational transmission of the VOC in Chinese societies.

  17. Functional characterization of two low-density lipoprotein receptor gene mutations in two Chinese patients with familial hypercholesterolemia.

    Directory of Open Access Journals (Sweden)

    Haihong Wang

    Full Text Available Familial hypercholesterolemia (FH is an autosomal dominant disease that primarily results from mutations in the low-density lipoprotein receptor (LDLR gene. We investigated two unrelated Chinese FH patients using gene screening and functional analysis to reveal the pathogenicity and the mechanism by which these mutations cause FH.First, the LDLR gene was sequenced in these patients. Then, mutant receptors were transfected into human embryo kidney 293 (HEK-293 cells, and a confocal laser-scanning microscope was used to observe the localization of mutant proteins. Further, the expression and the internalization activity were analyzed by flow cytometry. Finally, LDLR protein expression and stability was detected by western blot.Two different LDLR class 2B mutations were detected in two patients. The C201F mutation is a known mutation. However, the G615V mutation is novel. Flow cytometry showed that the expression and internalization activity of the mutant LDLRs were reduced to 73.6% and 82.6% for G615V and 33.2% and 33.5% for C201F, respectively.This study identified two LDLR mutations in Chinese patients with FH and analyzed the relationship between the genotype and phenotype of these patients. We found that these mutant LDLRs were defective in transport, which led to a reduction in cholesterol clearance. These results increase our understanding of the mutational spectrum of FH in the Chinese population.

  18. BFH-OST, a new predictive screening tool for identifying osteoporosis in postmenopausal Han Chinese women

    Science.gov (United States)

    Ma, Zhao; Yang, Yong; Lin, JiSheng; Zhang, XiaoDong; Meng, Qian; Wang, BingQiang; Fei, Qi

    2016-01-01

    Purpose To develop a simple new clinical screening tool to identify primary osteoporosis by dual-energy X-ray absorptiometry (DXA) in postmenopausal women and to compare its validity with the Osteoporosis Self-Assessment Tool for Asians (OSTA) in a Han Chinese population. Methods A cross-sectional study was conducted, enrolling 1,721 community-dwelling postmenopausal Han Chinese women. All the subjects completed a structured questionnaire and had their bone mineral density measured using DXA. Using logistic regression analysis, we assessed the ability of numerous potential risk factors examined in the questionnaire to identify women with osteoporosis. Based on this analysis, we build a new predictive model, the Beijing Friendship Hospital Osteoporosis Self-Assessment Tool (BFH-OST). Receiver operating characteristic curves were generated to compare the validity of the new model and OSTA in identifying postmenopausal women at increased risk of primary osteoporosis as defined according to the World Health Organization criteria. Results At screening, it was found that of the 1,721 subjects with DXA, 22.66% had osteoporosis and a further 47.36% had osteopenia. Of the items screened in the questionnaire, it was found that age, weight, height, body mass index, personal history of fracture after the age of 45 years, history of fragility fracture in either parent, current smoking, and consumption of three of more alcoholic drinks per day were all predictive of osteoporosis. However, age at menarche and menopause, years since menopause, and number of pregnancies and live births were irrelevant in this study. The logistic regression analysis and item reduction yielded a final tool (BFH-OST) based on age, body weight, height, and history of fracture after the age of 45 years. The BFH-OST index (cutoff =9.1), which performed better than OSTA, had a sensitivity of 73.6% and a specificity of 72.7% for identifying osteoporosis, with an area under the receiver operating

  19. BFH-OST, a new predictive screening tool for identifying osteoporosis in postmenopausal Han Chinese women

    Directory of Open Access Journals (Sweden)

    Ma Z

    2016-08-01

    Full Text Available Zhao Ma, Yong Yang,* JiSheng Lin, XiaoDong Zhang, Qian Meng, BingQiang Wang, Qi Fei* Department of Orthopedics, Beijing Friendship Hospital, Capital Medical University, Beijing, People’s Republic of China *These authors contributed equally to this work Purpose: To develop a simple new clinical screening tool to identify primary osteoporosis by dual-energy X-ray absorptiometry (DXA in postmenopausal women and to compare its validity with the Osteoporosis Self-Assessment Tool for Asians (OSTA in a Han Chinese population.Methods: A cross-sectional study was conducted, enrolling 1,721 community-dwelling postmenopausal Han Chinese women. All the subjects completed a structured questionnaire and had their bone mineral density measured using DXA. Using logistic regression analysis, we assessed the ability of numerous potential risk factors examined in the questionnaire to identify women with osteoporosis. Based on this analysis, we build a new predictive model, the Beijing Friendship Hospital Osteoporosis Self-Assessment Tool (BFH-OST. Receiver operating characteristic curves were generated to compare the validity of the new model and OSTA in identifying postmenopausal women at increased risk of primary osteoporosis as defined according to the World Health Organization criteria.Results: At screening, it was found that of the 1,721 subjects with DXA, 22.66% had osteoporosis and a further 47.36% had osteopenia. Of the items screened in the questionnaire, it was found that age, weight, height, body mass index, personal history of fracture after the age of 45 years, history of fragility fracture in either parent, current smoking, and consumption of three of more alcoholic drinks per day were all predictive of osteoporosis. However, age at menarche and menopause, years since menopause, and number of pregnancies and live births were irrelevant in this study. The logistic regression analysis and item reduction yielded a final tool (BFH-OST based on age

  20. Development and Validation of Search Filters to Identify Articles on Family Medicine in Online Medical Databases.

    Science.gov (United States)

    Pols, David H J; Bramer, Wichor M; Bindels, Patrick J E; van de Laar, Floris A; Bohnen, Arthur M

    2015-01-01

    Physicians and researchers in the field of family medicine often need to find relevant articles in online medical databases for a variety of reasons. Because a search filter may help improve the efficiency and quality of such searches, we aimed to develop and validate search filters to identify research studies of relevance to family medicine. Using a new and objective method for search filter development, we developed and validated 2 search filters for family medicine. The sensitive filter had a sensitivity of 96.8% and a specificity of 74.9%. The specific filter had a specificity of 97.4% and a sensitivity of 90.3%. Our new filters should aid literature searches in the family medicine field. The sensitive filter may help researchers conducting systematic reviews, whereas the specific filter may help family physicians find answers to clinical questions at the point of care when time is limited.

  1. The MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with clinical features of LHON but lacking the three primary mutations.

    Science.gov (United States)

    Zou, Yang; Jia, Xiaoyun; Zhang, A-Mei; Wang, Wen-Zhi; Li, Shiqiang; Guo, Xiangming; Kong, Qing-Peng; Zhang, Qingjiong; Yao, Yong-Gang

    2010-08-20

    LHON is one of the most common and primary causes of acute blindness in young male adults. Over 95% of LHON cases are caused by one of the three primary mutations (m.11778G>A, m.14484T>C, and m.3460G>A). In contrast to these genetically diagnosed LHON patients, there are many patients with clinical features of LHON but without the three primary mutations, and these patients have been insufficiently analyzed. We reported 10 suspected Chinese LHON families without the three primary mutations. The overall penetrance (53.4%) in these families is significantly higher than in those families with m.11778G>A (33.3%) or m.3460G>A (25.6%). Complete mtDNA genome sequencing of the 10 families showed that they belonged to different haplogroups and all identified variants (excluding m.12332A>G in mt-tRNA(Leu)) were previously reported. Eight of 12 private non-synonymous variants in the probands are located in the MT-ND1 and MT-ND5 genes, which is substantially higher than that of individuals from general Chinese populations. Comparison of the private variants in the 10 families and in 10 randomly selected mtDNAs from general Chinese populations using resampling simulation strategy further confirmed this pattern. Our results suggest that the MT-ND1 and MT-ND5 genes are mutational hotspots for Chinese families with suspected LHON lacking the common primary mutations. Variants m.3736G>A (p.V144I) in family Le1235 and m.10680G>A (p.A71T) in Le1107 can be the pathogenic mutations for LHON.

  2. Prenatal genotyping of four common oculocutaneous albinism genes in 51 Chinese families.

    Science.gov (United States)

    Wei, Ai-Hua; Zang, Dong-Jie; Zhang, Zhao; Yang, Xiu-Min; Li, Wei

    2015-06-20

    Oculocutaneous albinism (OCA) is an autosomal recessive disorder characterized by hypopigmentation in eyes, hair and skin, accompanied with vision loss. Currently, six genes have been identified as causative genes for non-syndromic OCA (OCA-1∼4, 6, 7), and ten genes for syndromic OCA (HPS-1-9, CHS-1). Genetic counseling of 51 Chinese OCA families (39 OCA-1 with mutations in the TYR gene, 6 OCA-2 with mutations in the OCA2 gene, 4 OCA-4 with mutations in the SLC45A2 gene, 1 HPS-1 (Hermansky-Pudlak syndrome-1) with mutation in the HPS1 gene, and 1 mixed OCA-1 and OCA-4) led us to perform the prenatal genetic testing of OCA using amniotic fluid cells through the implementation of our optimized strategy. In our cohort, eleven previously unidentified alleles (PUAs) (5 in TYR, 2 in OCA2, and 4 in SLC45A2) were found. Three missense PUAs (p.C112R, p.H363R and p.G379V of TYR) and one in-frame deletional PUA (p.S222del of SLC24A5) led to fetuses with OCA when co-inherited with other disease causative alleles. Three PUAs (p.P152H and p.W272X of TYR, p.A486T of SLC24A5) identified in the OCA probands did not co-transmit with known pathological alleles and thus gave rise to unaffected fetuses. Four PUAs (p.Q83X and p.A658T of TYR, p.G161R and p.G366R of SLC24A5) did not transmit to the unaffected fetuses. In addition, the in vitro transfection assays showed that the p.S192Y variant of TYR produced less pigment compared to the wild-type allele. A fetus with a digenic carrier of OCA-1 and OCA-4 was unaffected. In combination with functional assays, the family inheritance pattern is useful for the evaluation of pathogenicity of PUAs and genetic counseling of OCA.

  3. Does family background impact driving attitudes and risky behaviours? An investigation on Chinese young drivers.

    Science.gov (United States)

    Wang, Zhe; Zheng, Zuduo; Fleiter, Judy J

    2016-10-01

    The rapid pace of motorisation in China has been well documented, as has the large road trauma burden the Chinese citizens are facing as a result. China's unique political system represents an important consideration in helping reduce road trauma, yet political factors have not been previously investigated in this context. Recently, emerging issues on the road involving the adult children of politically powerful families have become a serious social problem in China, and have drawn widespread media and public attention. This study took a novel approach to examining factors associated with risky attitudes and risky road use in China by investigating the economic and political background status of a sample of young Chinese drivers. An online survey was conducted in May 2015 with a sample size of 476 Chinese young drivers from across the country, aged between 18 and 28, including 305 males and 171 females. The results suggest that for participants who reported having a familial political background, more risky driving behaviours were reported among those participants who reported more impact on their life from that political background; while for participants without political background, higher personal income was associated with more risky driving behaviours. The findings are discussed in light of China's political management system and potential education opportunities for young drivers. PMID:27410174

  4. Novel collagen VI mutations identified in Chinese patients with Ullrich congenital muscular dystrophy

    Institute of Scientific and Technical Information of China (English)

    Yan-Zhi Zhang; Hui Xiong; Dan-Hua Zhao; Hai-Po Yang; Ai-Jie Liu; Xing-Zhi Chang; Dao-Jun Hong; Carsten Bonnemann; Yun Yuan; Xi-Ru Wu

    2014-01-01

    Background: We determined the clinical and molecular genetic characteristics of 8 Chinese patients with Ullrich congenital muscular dystrophy (UCMD). Methods: Clinical data of probands were collected and muscle biopsies of patients were analyzed. Exons of COL6A1, COL6A2 and COL6A3 were analyzed by direct sequencing. Mutations in COL6A1, COL6A2 and COL6A3 were identifi ed in 8 patients. Results: Among these mutations, 5 were novel [three in the triple helical domain (THD) and 2 in the second C-terminal (C2) domain]. We also identified five known missense or in-frame deletion mutations in THD and C domains. Immunohistochemical studies on muscle biopsies from patients showed reduced level of collagen VI at the muscle basement membrane and mis-localization of the protein in interstitial and perivascular regions. Conclusions: The novel mutations we identified underscore the importance of THD and C2 domains in the assembly and function of collagen VI, thereby providing useful information for the genetic counseling of UCMD patients.

  5. Genomic and transcriptome profiling identified both human and HBV genetic variations and their interactions in Chinese hepatocellular carcinoma

    Directory of Open Access Journals (Sweden)

    Hua Dong

    2015-12-01

    Full Text Available Interaction between HBV and host genome integrations in hepatocellular carcinoma (HCC development is a complex process and the mechanism is still unclear. Here we described in details the quality controls and data mining of aCGH and transcriptome sequencing data on 50 HCC samples from the Chinese patients, published by Dong et al. (2015 (GEO#: GSE65486. In additional to the HBV-MLL4 integration discovered, we also investigated the genetic aberrations of HBV and host genes as well as their genetic interactions. We reported human genome copy number changes and frequent transcriptome variations (e.g. TP53, CTNNB1 mutation, especially MLL family mutations in this cohort of the patients. For HBV genotype C, we identified a novel linkage disequilibrium region covering HBV replication regulatory elements, including basal core promoter, DR1, epsilon and poly-A regions, which is associated with HBV core antigen over-expression and almost exclusive to HBV-MLL4 integration.

  6. The Cinematic Depiction of Conflict Resolution in the Immigrant Chinese Family: The Wedding Banquet and Saving Face

    Directory of Open Access Journals (Sweden)

    Qijun Han

    2013-12-01

    Full Text Available Both emphasising dilemmas that have been confronted by the Chinese-American family, Ang Lee’s The Wedding Banquet (1993 and Alice Wu’s Saving Face (2004 highlight the image of homosexuality as incompatible with traditional Chinese family values. Through detailed narrative analyses of these two films with a focus on the structure of the plot, the key characters, and camera work, this article aims to answer the questions of how traditional Chinese culture continues to play into and conflict with the experiences of modern Chinese American families and how each film presents and resolves the tensions arising from a culture in transition. The article argues that the importance of studying the ways in which the protagonists try to come to terms with incompatible value systems, lies in the capacity of film to reveal the complex negotiation between tradition and modernity, as well as the socio-cultural specificity of the conceptions of modernity. 

  7. The Cinematic Depiction of Conflict Resolution in the Immigrant Chinese Family: The Wedding Banquet and Saving Face

    Directory of Open Access Journals (Sweden)

    Qijun Han

    2013-12-01

    Full Text Available Both emphasising dilemmas that have been confronted by the Chinese-American family, Ang Lee’s The Wedding Banquet (1993 and Alice Wu’s Saving Face (2004 highlight the image of homosexuality as incompatible with traditional Chinese family values. Through detailed narrative analyses of these two films with a focus on the structure of the plot, the key characters, and camera work, this article aims to answer the questions of how traditional Chinese culture continues to play into and conflict with the experiences of modern Chinese American families and how each film presents and resolves the tensions arising from a culture in transition. The article argues that the importance of studying the ways in which the protagonists try to come to terms with incompatible value systems, lies in the capacity of film to reveal the complex negotiation between tradition and modernity, as well as the socio-cultural specificity of the conceptions of modernity.

  8. Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation

    OpenAIRE

    Wang, Xue; Xin, Qian; Li, Lin; Li, Jiangxia; Zhang, Changwu; Qiu, Rongfang; Qian, Chenmin; Zhao, Hailing; Liu, Yongchao; Shan, Shan; Dang, Jie; Bian, Xianli; Shao, Changshun; Gong, Yaoqin; Liu, Qiji

    2013-01-01

    Split-hand/foot malformation (SHFM) is a congenital limb deformity due to the absence or dysplasia of central rays of the autopod. Six SHFM loci have already been identified. Here we describe a Chinese family with autosomal-dominant SHFM1 that has previously been mapped to 7q21.2-21.3. The two affected family members, mother and son, showed deep median clefts between toes, ectrodactyly and syndactyly; the mother also showed triphalangeal thumbs. Exome sequencing and variant screening of candi...

  9. Using Focus Groups to Identify Rural Participant Needs in Balancing Work and Family Education.

    Science.gov (United States)

    Duncan, Stephen F.; Marotz-Baden, Ramona

    1999-01-01

    Six focus groups with 49 rural residents identified concerns about balancing work and family (time, energy, conflicting demands, child care), causes of imbalance, and types of help needed. Results were used to plan programs on time and resource management, meal planning, and relationship skills. (SK)

  10. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes

    DEFF Research Database (Denmark)

    Hu, H; Haas, S A; Chelly, J;

    2016-01-01

    X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes ...

  11. Development and Validation of Search Filters to Identify Articles on Family Medicine in Online Medical Databases

    NARCIS (Netherlands)

    Pols, D.H.; Bramer, W.M.; Bindels, P.J.; Laar, F.A. van de; Bohnen, A.M.

    2015-01-01

    Physicians and researchers in the field of family medicine often need to find relevant articles in online medical databases for a variety of reasons. Because a search filter may help improve the efficiency and quality of such searches, we aimed to develop and validate search filters to identify rese

  12. Mitochondrial haplotypes may modulate the phenotypic manifestation of the LHON-associated m.14484T>C (MT-ND6) mutation in Chinese families.

    Science.gov (United States)

    Zhang, Juanjuan; Zhao, Fuxin; Fu, Qun; Liang, Min; Tong, Yi; Liu, Xiaoling; Lin, Bei; Mi, Hui; Zhang, Minglian; Wei, Qi-Ping; Xue, Ling; Jiang, Pingping; Zhou, Xiangtian; Mo, Jun Qin; Huang, Taosheng; Qu, Jia; Guan, Min-Xin

    2013-11-01

    Mitochondrial m.14484T>C (MT-ND6) mutation has been associated with Leber's hereditary optic neuropathy. Previous investigations revealed that the m.14484T>C mutation is a primary factor underlying the development of optic neuropathy but is not sufficient to produce a clinical phenotype. However, mitochondrial haplogroups have been proposed to modulate the phenotypic manifestation of the m.14484T>C mutation. Here, we performed the clinical, genetic evaluation and complete mitochondrial genome sequence analysis of 41 Han Chinese pedigrees carrying the m.14484T>C mutation. These families exhibited a wide range of penetrances and expressivities of optic neuropathy. The average ratio between affected male/female matrilineal relatives from 41 families was 2:1. The penetrance of optic neuropathy in these Chinese pedigrees ranged from 5.6% to 100%, with the average of 23.8%. Furthermore, the age-of-onset for optic neuropathy varied from 4 to 44 years, with the average of 19.3 years. Sequence analysis of their mitochondrial genomes identified distinct sets of polymorphisms belonging to ten Eastern Asian haplogroups, indicating that the m.14484T>C mutation occurred through recurrent origins and founder events. We showed that mitochondrial haplogroups M9, M10 and N9 increased the penetrance of optic neuropathy in these Chinese families. In particular, these mitochondrial haplogroup specific variants: m.3394T>C (MT-ND1), m.14502T>C (MT-ND4) and m.14693A>G (MT-TE) enhanced the penetrance of visual loss in these Chinese families. These data provided the direct evidence that mitochondrial modifiers modulate the variable penetrance and expressivity of optic neuropathy among Chinese pedigrees carrying the m.14484T>C mutation.

  13. Family History of Venous Thromboembolism and Identifying Factor V Leiden Carriers During Pregnancy

    Science.gov (United States)

    Horton, Amanda L.; Momirova, Valerija; Dizon-Townson, Donna; Wenstrom, Katharine; Wendel, George; Samuels, Philip; Sibai, Baha; Spong, Catherine Y.; Cotroneo, Margaret; Sorokin, Yoram; Miodovnik, Menachem; O’Sullivan, Mary J.; Conway, Deborah; Wapner, Ronald J.

    2010-01-01

    Objective To estimate whether there is a correlation between family history of venous thromboembolism and factor V Leiden mutation carriage in gravid women without personal history of venous thromboembolism. Methods This is a secondary analysis of a prospective observational study of the frequency of pregnancy-related thromboembolic events among carriers of the factor V Leiden mutation. Family history of venous thromboembolism in either first- or second-degree relatives was self-reported. Sensitivity, specificity, and positive and negative predictive values of family history to predict factor V Leiden mutation carrier status were calculated. Results Women with a negative personal venous thromboembolism history and available DNA were included (n=5,168). One-hundred forty women (2.7%, 95%CI 2.3- 3.2%) were factor V Leiden mutation-positive. Four-hundred twelve women (8.0%, 95%CI 7.3–8.7%) reported a family history of venous thromboembolism. Women with a positive family history were twofold more likely to be factor V Leiden mutation carriers than those with a negative family history (23/412 (5.6%) versus 117/4,756 (2.5%), p<.001). The sensitivity, specificity and positive predictive value of a family history of a first or second degree relative for identifying factor V Leiden carriers were 16.4% (95%CI 10.7–23.6%), 92.3% (95%CI 91.5–93.0%) and 5.6% (95%CI 3.6–8.3 %), respectively. Conclusion While a family history of venous thromboembolism is associated with factor V Leiden mutation in thrombosis- free gravid women, the sensitivity and positive predictive values are too low to recommend screening women for the factor V Leiden mutation based solely on a family history. PMID:20177282

  14. Identification of Two Disease-causing Genes TJP2 and GJB2 in a Chinese Family with Unconditional Autosomal Dominant Nonsyndromic Hereditary Hearing Impairment

    Institute of Scientific and Technical Information of China (English)

    Hong-Yang Wang; Ya-Li Zhao; Qiong Liu; Hu Yuan; Yun Gao; Lan Lan; Lan Yu

    2015-01-01

    Background: There are more than 300 genetic loci that have been found to be related to hereditary hearing impairment (HHI), including 92 causative genes for nonsyndromic hearing loss, among which 34 genes are related to autosomal dominant nonsyndromic HHI (ADNSHHI).Traditional linkage analysis and candidate gene sequencing are not effective at detecting the ADNSHHI, especially for the unconditional families that may have more than one pathogenic cause.This study identified two disease-causing genes TJP2 and GJB2 in a Chinese family with unconditional ADNSHHI.Methods: To decipher the genetic code of a Chinese family (family 686) with ADNSHHI, different gene screening techniques have been performed, including linkage analysis, candidate genes screening, high-throughput sequencing and Sanger sequencing.These techniques were done on samples obtained from this family over a period of 10 years.Results: We identified a pathogenic missense mutation, c.2081G>A (p.G694E), in TJP2, a gene that plays a crucial role in apoptosis and age-related hearing loss (ARHL).The mutation was co-segregated in this pedigree in all, but not in the two patients who presented with different phenotypes from the other affected family members.In one of the two patients, we confirmed that the compound heterozygosity for p.Y136* and p.G45E in the GJB2 gene may account for the phenotype shown in this patient.Conclusions: We identified the co-occurrence of two genetic causes in family 686.The possible disease-causing missense mutation of TJP2 in family 686 presents an opportunity for further investigation into ARHL.It is necessary to combine various genes screening methods, especially for some unconventional cases.

  15. Analysis on the Susceptibility Genes in Two Chinese Pedigrees with Familial Parkinson's Disease

    Directory of Open Access Journals (Sweden)

    Changshui Xu

    2010-01-01

    Full Text Available Objective. To screen the susceptibility genes in Chinese pedigrees with early-onset familial Parkinson's disease (FPD. Methods. Fifty-one genomic DNA samples extracted from two Chinese pedigrees with FPD, the alpha-synuclein genes (SNCA, the leucine-rich repeat kinase 2(LRRK2, PINK1(PTEN-induced putative kinase 1, PARK7(Protein DJ1, PARK2(Parkinson juvenile disease protein 2, the glucocerebrosidase (GBA, and ATP(Ezrin-binding protein PACE-1, were sequenced by the use of polymerase chain reaction (PCR technique. The gene dose of SNCA was checked. Results. There were only two missense mutations observed, respectively, at exon 5 of LRRK2 and exon 10 of PARK2, and both were enrolled in SNPs. Conclusion. No meaningful mutations could be detected, and other susceptibility genes should be detected in FDP patients in China.

  16. Mother-adolescent language proficiency and adolescent academic and emotional adjustment among Chinese American families.

    Science.gov (United States)

    Liu, Lisa L; Benner, Aprile D; Lau, Anna S; Kim, Su Yeong

    2009-04-01

    This study examined the role of adolescents' and mothers' self-reports of English and heritage language proficiency in youth's academic and emotional adjustment among 444 Chinese American families. Adolescents who were proficient in English tended to exhibit higher reading achievement scores, math achievement scores, and overall GPA. Mothers who were English proficient tended to have children with higher academic achievement and fewer depressive symptoms. Results also indicated that adolescents' heritage language maintenance was associated with positive adjustment, particularly amongst foreign-born youth and for youth whose parents were highly proficient in the heritage language. Mother-adolescent match in heritage language proficiency was related to higher math achievement scores and overall GPA. Additionally, higher heritage language proficiency was associated with fewer depressive symptoms for foreign-born but not U.S.-born youth. Overall, the findings suggest that proficiency in both the English and heritage language may confer advantages to Chinese American youth.

  17. A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts

    Science.gov (United States)

    Irum, Bushra; Khan, Arif O.; Wang, Qiwei; Li, David; Khan, Asma A.; Husnain, Tayyab; Akram, Javed; Riazuddin, Sheikh

    2016-01-01

    Purpose This study was performed to investigate the genetic determinants of autosomal recessive congenital cataracts in large consanguineous families. Methods Affected individuals underwent a detailed ophthalmological examination and slit-lamp photographs of the cataractous lenses were obtained. An aliquot of blood was collected from all participating family members and genomic DNA was extracted from white blood cells. Initially, a genome-wide scan was performed with genomic DNAs of family PKCC025 followed by exclusion analysis of our familial cohort of congenital cataracts. Protein-coding exons of CRYBB1, CRYBB2, CRYBB3, and CRYBA4 were sequenced bidirectionally. A haplotype was constructed with SNPs flanking the causal mutation for affected individuals in all four families, while the probability that the four familial cases have a common founder was estimated using EM and CHM-based algorithms. The expression of Crybb3 in the developing murine lens was investigated using TaqMan assays. Results The clinical and ophthalmological examinations suggested that all affected individuals had nuclear cataracts. Genome-wide linkage analysis localized the causal phenotype in family PKCC025 to chromosome 22q with statistically significant two-point logarithm of odds (LOD) scores. Subsequently, we localized three additional families, PKCC063, PKCC131, and PKCC168 to chromosome 22q. Bidirectional Sanger sequencing identified a missense variation: c.493G>C (p.Gly165Arg) in CRYBB3 that segregated with the disease phenotype in all four familial cases. This variation was not found in ethnically matched control chromosomes, the NHLBI exome variant server, or the 1000 Genomes or dbSNP databases. Interestingly, all four families harbor a unique disease haplotype that strongly suggests a common founder of the causal mutation (p<1.64E-10). We observed expression of Crybb3 in the mouse lens as early as embryonic day 15 (E15), and expression remained relatively steady throughout

  18. A Common Ancestral Mutation in CRYBB3 Identified in Multiple Consanguineous Families with Congenital Cataracts.

    Directory of Open Access Journals (Sweden)

    Xiaodong Jiao

    Full Text Available This study was performed to investigate the genetic determinants of autosomal recessive congenital cataracts in large consanguineous families.Affected individuals underwent a detailed ophthalmological examination and slit-lamp photographs of the cataractous lenses were obtained. An aliquot of blood was collected from all participating family members and genomic DNA was extracted from white blood cells. Initially, a genome-wide scan was performed with genomic DNAs of family PKCC025 followed by exclusion analysis of our familial cohort of congenital cataracts. Protein-coding exons of CRYBB1, CRYBB2, CRYBB3, and CRYBA4 were sequenced bidirectionally. A haplotype was constructed with SNPs flanking the causal mutation for affected individuals in all four families, while the probability that the four familial cases have a common founder was estimated using EM and CHM-based algorithms. The expression of Crybb3 in the developing murine lens was investigated using TaqMan assays.The clinical and ophthalmological examinations suggested that all affected individuals had nuclear cataracts. Genome-wide linkage analysis localized the causal phenotype in family PKCC025 to chromosome 22q with statistically significant two-point logarithm of odds (LOD scores. Subsequently, we localized three additional families, PKCC063, PKCC131, and PKCC168 to chromosome 22q. Bidirectional Sanger sequencing identified a missense variation: c.493G>C (p.Gly165Arg in CRYBB3 that segregated with the disease phenotype in all four familial cases. This variation was not found in ethnically matched control chromosomes, the NHLBI exome variant server, or the 1000 Genomes or dbSNP databases. Interestingly, all four families harbor a unique disease haplotype that strongly suggests a common founder of the causal mutation (p<1.64E-10. We observed expression of Crybb3 in the mouse lens as early as embryonic day 15 (E15, and expression remained relatively steady throughout development.Here, we

  19. Reproducibility and validity of dietary patterns identified using factor analysis among Chinese populations.

    Science.gov (United States)

    Hong, Xin; Ye, Qing; Wang, Zhiyong; Yang, Huafeng; Chen, Xupeng; Zhou, Hairong; Wang, Chenchen; Chu, Wenjie; Lai, Yichao; Sun, Liuyuan; Wang, Youfa; Xu, Fei

    2016-09-01

    In the present study, we evaluated the reproducibility and validity of dietary patterns among Chinese adult populations. A random subsample of 203 participants (aged 31-80 years) from a community-based nutrition and health survey was enrolled. An eighty-seven-item FFQ was administered twice (FFQ1 and FFQ2) 1 year apart; four 3 consecutive day, 24-h dietary recalls (24-HDR, as a reference method) were performed between the administrations of the two FFQ every 3 months. Dietary patterns from three separate dietary sources were derived using factor analysis based on twenty-eight predefined food groups. Comparisons between dietary pattern scores were made by using Pearson's or intraclass correlation coefficients (ICC), cross-classification analysis, weighted κ statistic and Bland-Altman plots; the four major dietary patterns identified from FFQ1, FFQ2 and 24-HDR were similar. Regarding reproducibility, ICC for z-scores between FFQ1 and FFQ2 were all >0·6 for dietary patterns. The 'animal and plant protein' pattern had the highest ICC of 0·870. For validity, the adjusted Pearson's correlation coefficients for dietary pattern z-scores between two FFQ and the mean of four 3 consecutive day 24-HDR ranged from 0·387 for the 'Chinese traditional' pattern to 0·838 for the 'animal and plant protein' pattern. More than 75 % of the participants were classified into the same or adjacent quartile, and <5 % were misclassified into opposite quartiles. The weighted κ ranged from 0·259 to 0·680. Bland-Altman plots indicated that no significant deviation was found between two dietary assessment methods. Our findings indicate a good reasonable reproducibility and a reasonable validity of dietary patterns derived by factor analysis in China. PMID:27405825

  20. Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets

    Science.gov (United States)

    Pang, Qianqian; Qi, Xuan; Jiang, Yan; Wang, Ou; Li, Mei; Xing, Xiaoping; Dong, Jin; Xia, Weibo

    2016-01-01

    Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder characterized by severe rickets, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. This disorder is caused by homogeneous or heterogeneous mutations affecting the function of the vitamin D receptor (VDR), which lead to complete or partial target organ resistance to the action of 1,25-dihydroxy vitamin D. A non-consanguineous family of Chinese Han origin with one affected individual demonstrating HVDRR was recruited, with the proband evaluated clinically, biochemically and radiographically. To identify the presence of mutations in the VDR gene, all the exons and exon–intron junctions of the VDR gene from all family members were amplified using PCR and sequenced. The proband showed rickets, progressive alopecia, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. She also suffered from epilepsy, which is rarely seen in patients with HVDRR. Direct sequencing analysis revealed a homozygous missense mutation c.122G>A (p.C41Y) in the VDR gene of the proband, which is located in the first zinc finger of the DNA-binding domain. Both parents had a normal phenotype and were found to be heterozygous for this mutation. We report a Chinese Han family with one individual affected with HVDRR. A homozygous missense mutation c.122G>A (p.C41Y) in the VDR gene was found to be responsible for the patient’s syndrome. In contrast to the results of treatment of HVDRR in other patients, our patient responded well to a supplement of oral calcium and a low dose of calcitriol. PMID:27408766

  1. Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets

    Institute of Scientific and Technical Information of China (English)

    Qianqian Pang; Xuan Qi; Yan Jiang; Ou Wang; Mei Li; Xiaoping Xing; Jin Dong; Weibo Xia

    2016-01-01

    Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder characterized by severe rickets, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. This disorder is caused by homogeneous or heterogeneous mutations affecting the function of the vitamin D receptor (VDR), which lead to complete or partial target organ resistance to the action of 1,25-dihydroxy vitamin D. A non-consanguineous family of Chinese Han origin with one affected individual demonstrating HVDRR was recruited, with the proband evaluated clinically, biochemically and radiographically. To identify the presence of mutations in the VDR gene, all the exons and exon–intron junctions of the VDR gene from all family members were amplified using PCR and sequenced. The proband showed rickets, progressive alopecia, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. She also suffered from epilepsy, which is rarely seen in patients with HVDRR. Direct sequencing analysis revealed a homozygous missense mutation c.122G4A (p.C41Y) in the VDR gene of the proband, which is located in the first zinc finger of the DNA-binding domain. Both parents had a normal phenotype and were found to be heterozygous for this mutation. We report a Chinese Han family with one individual affected with HVDRR. A homozygous missense mutation c.122G4A (p.C41Y) in the VDR gene was found to be responsible for the patient’s syndrome. In contrast to the results of treatment of HVDRR in other patients, our patient responded well to a supplement of oral calcium and a low dose of calcitriol.

  2. Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets.

    Science.gov (United States)

    Pang, Qianqian; Qi, Xuan; Jiang, Yan; Wang, Ou; Li, Mei; Xing, Xiaoping; Dong, Jin; Xia, Weibo

    2016-01-01

    Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder characterized by severe rickets, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. This disorder is caused by homogeneous or heterogeneous mutations affecting the function of the vitamin D receptor (VDR), which lead to complete or partial target organ resistance to the action of 1,25-dihydroxy vitamin D. A non-consanguineous family of Chinese Han origin with one affected individual demonstrating HVDRR was recruited, with the proband evaluated clinically, biochemically and radiographically. To identify the presence of mutations in the VDR gene, all the exons and exon-intron junctions of the VDR gene from all family members were amplified using PCR and sequenced. The proband showed rickets, progressive alopecia, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. She also suffered from epilepsy, which is rarely seen in patients with HVDRR. Direct sequencing analysis revealed a homozygous missense mutation c.122G>A (p.C41Y) in the VDR gene of the proband, which is located in the first zinc finger of the DNA-binding domain. Both parents had a normal phenotype and were found to be heterozygous for this mutation. We report a Chinese Han family with one individual affected with HVDRR. A homozygous missense mutation c.122G>A (p.C41Y) in the VDR gene was found to be responsible for the patient's syndrome. In contrast to the results of treatment of HVDRR in other patients, our patient responded well to a supplement of oral calcium and a low dose of calcitriol.

  3. Clinical and genetic findings in a Chinese family with VDR-associated hereditary vitamin D-resistant rickets.

    Science.gov (United States)

    Pang, Qianqian; Qi, Xuan; Jiang, Yan; Wang, Ou; Li, Mei; Xing, Xiaoping; Dong, Jin; Xia, Weibo

    2016-01-01

    Hereditary vitamin D-resistant rickets (HVDRR) is a rare autosomal recessive disorder characterized by severe rickets, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. This disorder is caused by homogeneous or heterogeneous mutations affecting the function of the vitamin D receptor (VDR), which lead to complete or partial target organ resistance to the action of 1,25-dihydroxy vitamin D. A non-consanguineous family of Chinese Han origin with one affected individual demonstrating HVDRR was recruited, with the proband evaluated clinically, biochemically and radiographically. To identify the presence of mutations in the VDR gene, all the exons and exon-intron junctions of the VDR gene from all family members were amplified using PCR and sequenced. The proband showed rickets, progressive alopecia, hypocalcemia, hypophosphatemia, secondary hyperparathyroidism, and elevated alkaline phosphatase. She also suffered from epilepsy, which is rarely seen in patients with HVDRR. Direct sequencing analysis revealed a homozygous missense mutation c.122G>A (p.C41Y) in the VDR gene of the proband, which is located in the first zinc finger of the DNA-binding domain. Both parents had a normal phenotype and were found to be heterozygous for this mutation. We report a Chinese Han family with one individual affected with HVDRR. A homozygous missense mutation c.122G>A (p.C41Y) in the VDR gene was found to be responsible for the patient's syndrome. In contrast to the results of treatment of HVDRR in other patients, our patient responded well to a supplement of oral calcium and a low dose of calcitriol. PMID:27408766

  4. The Attitudes of Chinese Cancer Patients and Family Caregivers toward Advance Directives

    Directory of Open Access Journals (Sweden)

    Qiu Zhang

    2016-08-01

    Full Text Available Advance directives (ADs have been legislated in many countries to protect patient autonomy regarding medical decisions at the end of life. China is facing a serious cancer burden and cancer patients’ quality at the end of life should be a concern. However, limited studies have been conducted locally to gather information about attitudes toward ADs. The purpose of this study was to investigate the attitudes of Chinese cancer patients and family caregivers toward ADs and to explore the predictors that are associated with attitudes. The study indicated that although there was low awareness of ADs, most cancer patients and family caregivers had positive attitudes toward ADs after related information was explained to them. Participants preferred to discuss ADs with medical staff when they were diagnosed with a life-threatening disease. Preferences for refusing life-sustaining treatment and choosing Hospice-Palliative Care (HPC at the end of life would increase the likelihood of agreeing with ADs. This suggests that some effective interventions to help participants better understand end-of-life treatments are helpful in promoting ADs. Moreover, the development of HPC would contribute to Chinese cancer patients and family caregivers agreeing with ADs.

  5. Common FLG mutation K4671X not associated with atopic dermatitis in Han Chinese in a family association study.

    Directory of Open Access Journals (Sweden)

    Ruhong Cheng

    Full Text Available BACKGROUND: Filaggrin gene (FLG mutations have been identified as the cause of ichthyosis vulgaris (IV and major predisposing factors for atopic dermatitis (AD. The relationship among AD, IV and FLG mutations has not been clarified yet. Mutations 3321delA and K4671X, two of the most common mutations in Chinese patients, were both statistically associated with AD in case-control studies. MATERIALS AND METHODS: A group of 100 family trios (a total of 300 members with one affected AD proband and both parents were recruited and screened for three filaggrin null mutations (3222del4, 3321delA and K4671X. The subjects' manifestations of AD and IV were assessed by two experienced dermatologists and recorded in detail. The relationship of common mutations to AD were assessed using both case-control and family-based tests of association. Filaggrin expression was measured in skin of 3 subjects with K4671X heterozygote and the normal control using quantitative real-time RT-PCR and immunohistochemistry. RESULTS: Of 100 probands for AD, 22 were carriers for common FLG mutations and only 2 of them were from 40 none-IV family trios (5.00%, consistent with that of the healthy control group (3.99%, P>0.05. Significant statistical associations were revealed between AD and 3321delA (P<0.001, odds ratio 12.28, 95% confidence interval 3.35-44.98 as well as K4671X (P = 0.002, odds ratio 4.53, 95% confidence interval 1.77-11.60. The family-based approach revealed that 3321delA was over-transmitted to AD offspring from parents (T:U = 12∶1, P = 0.003 but failed to demonstrate transmission disequilibrium between K4671X and AD (T:U = 10∶8, P = 0.815. Moreover, compared to the normal control, filaggrin expression at both mRNA and protein levels in epidermis of subjects with K4671X(heter was not reduced. CONCLUSIONS: AD patients from none-IV family trios have low probability of carrying FLG mutations. The present family samples confirmed the

  6. A novel splicing mutation in COL1A1 gene caused type I osteogenesis imperfecta in a Chinese family.

    Science.gov (United States)

    Peng, Hao; Zhang, Yuhui; Long, Zhigao; Zhao, Ding; Guo, Zhenxin; Xue, Jinjie; Xie, Zhiguo; Xiong, Zhimin; Xu, Xiaojuan; Su, Wei; Wang, Bing; Xia, Kun; Hu, Zhengmao

    2012-07-10

    Osteogenesis imperfect (OI) is a heritable connective tissue disorder with bone fragility as a cardinal manifestation, accompanied by short stature, dentinogenesis imperfecta, hyperlaxity of ligaments and skin, blue sclerae and hearing loss. Dominant form of OI is caused by mutations in the type I procollagen genes, COL1A1/A2. Here we identified a novel splicing mutation c.3207+1G>A (GenBank ID: JQ236861) in the COL1A1 gene that caused type I OI in a Chinese family. RNA splicing analysis proved that this mutation created a new splicing site at c.3200, and then led to frameshift. This result further enriched the mutation spectrum of type I procollagen genes. PMID:22565191

  7. A Fuzzy Computing Model for Identifying Polarity of Chinese Sentiment Words

    Directory of Open Access Journals (Sweden)

    Bingkun Wang

    2015-01-01

    Full Text Available With the spurt of online user-generated contents on web, sentiment analysis has become a very active research issue in data mining and natural language processing. As the most important indicator of sentiment, sentiment words which convey positive and negative polarity are quite instrumental for sentiment analysis. However, most of the existing methods for identifying polarity of sentiment words only consider the positive and negative polarity by the Cantor set, and no attention is paid to the fuzziness of the polarity intensity of sentiment words. In order to improve the performance, we propose a fuzzy computing model to identify the polarity of Chinese sentiment words in this paper. There are three major contributions in this paper. Firstly, we propose a method to compute polarity intensity of sentiment morphemes and sentiment words. Secondly, we construct a fuzzy sentiment classifier and propose two different methods to compute the parameter of the fuzzy classifier. Thirdly, we conduct extensive experiments on four sentiment words datasets and three review datasets, and the experimental results indicate that our model performs better than the state-of-the-art methods.

  8. A Fuzzy Computing Model for Identifying Polarity of Chinese Sentiment Words.

    Science.gov (United States)

    Wang, Bingkun; Huang, Yongfeng; Wu, Xian; Li, Xing

    2015-01-01

    With the spurt of online user-generated contents on web, sentiment analysis has become a very active research issue in data mining and natural language processing. As the most important indicator of sentiment, sentiment words which convey positive and negative polarity are quite instrumental for sentiment analysis. However, most of the existing methods for identifying polarity of sentiment words only consider the positive and negative polarity by the Cantor set, and no attention is paid to the fuzziness of the polarity intensity of sentiment words. In order to improve the performance, we propose a fuzzy computing model to identify the polarity of Chinese sentiment words in this paper. There are three major contributions in this paper. Firstly, we propose a method to compute polarity intensity of sentiment morphemes and sentiment words. Secondly, we construct a fuzzy sentiment classifier and propose two different methods to compute the parameter of the fuzzy classifier. Thirdly, we conduct extensive experiments on four sentiment words datasets and three review datasets, and the experimental results indicate that our model performs better than the state-of-the-art methods.

  9. A Study on the Underlying Causes Behind the Declining Trend of Chinese Male’s Authority in Families: A Socio-functional Perspective —Taking a Chinese Dialect Episode: Go! The Whole Family as an Example

    Directory of Open Access Journals (Sweden)

    Meixia Li

    2015-11-01

    Full Text Available Males have had greatest authorities in Chinese families since ancient times. However, it can be sensed that their authorities in families are declining in recent decades. Then such questions arise: first, are there any concrete evidences that can show us that Chinese male’s authority in families is declining? Second, what are the underlying causes behind this declining trend? In this article, based on Halliday’s systemic-functional grammar, esp. the idea about the construction of interpersonal meaning through mood structure, and Bakhtin’s dialogue theory, we did quantitative and qualitative analyses of the data selected from a Chinese dialect episode: Go! The Whole Family. The study reveals that the declining of the Chinese male’s authority in the family has become a publicly recognized convention, and this declining trend is not simply a social phenomenon, rather, it also reflects the universal human nature, that is, the pursuit of equality and humanism.Keywords: Chinese Male’s  authority; Declining; Underlying Causes; Universal Human Nature; Mood Structure; Dialogue Theory

  10. Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype

    DEFF Research Database (Denmark)

    Bisgaard, M L; Ripa, R; Knudsen, Anne Louise;

    2004-01-01

    BACKGROUND: Development of more than 100 colorectal adenomas is diagnostic of the dominantly inherited autosomal disease familial adenomatous polyposis (FAP). Germline mutations can be identified in the adenomatous polyposis coli (APC) gene in approximately 80% of patients. The APC protein compri...... they do not themselves more often represent an isolated case. CONCLUSIONS: The severe phenotype should be considered when counselling FAP families in which attenuated FAP is excluded and in which a causative APC mutation has not been identified.......BACKGROUND: Development of more than 100 colorectal adenomas is diagnostic of the dominantly inherited autosomal disease familial adenomatous polyposis (FAP). Germline mutations can be identified in the adenomatous polyposis coli (APC) gene in approximately 80% of patients. The APC protein...... in patients with a known APC mutation and with the phenotypes characteristic of patients with mutations in specific APC regions and domains. PATIENTS: Data on 121 FAP probands and 149 call up patients from 70 different families were extracted from the Danish Polyposis register. METHODS: Differences in 16...

  11. New families of human regulatory RNA structures identified by comparative analysis of vertebrate genomes

    DEFF Research Database (Denmark)

    Parker, Brian John; Moltke, Ida; Roth, Adam;

    2011-01-01

    a comparative method, EvoFam, for genome-wide identification of families of regulatory RNA structures, based on primary sequence and secondary structure similarity. We apply EvoFam to a 41-way genomic vertebrate alignment. Genome-wide, we identify 220 human, high-confidence families outside protein...... involving six long hairpins in the 3'-UTR of MAT2A, a key metabolic gene that produces the primary human methyl donor S-adenosylmethionine; the other involving a tRNA-like structure in the intron of the tRNA maturation gene POP1. We experimentally validate the predicted MAT2A structures. Finally, we...

  12. Using family atopy scores to identify the risk of atopic dermatitis in infants

    Directory of Open Access Journals (Sweden)

    Melisa Anggraeni

    2014-11-01

    Full Text Available Background Atopic dermatitis is the first manifestation of allergic disease in early life. Early interventions may prevent the development of allergy disease. Allergy trace cards have been used to identify the level of allergic risk, based on family atopy scores. Because environmental factors may also influence the development of atopic dermatitis, the usefulness of the allergy trace card needs to be reevaluated. Objective To compare the incidence of atopic dermatitis in infants aged 0-4 months with total family atopy scores of > 0 to those with scores of 0. Methods We conducted this cohort study from June 1, 2012 to December 31, 2012 at Sanglah Hospital, Denpasar. Family atopy score was tabulated from all pregnant woman in the Obstetric Outpatient Clinic and the Maternity Room. Subjects were divided into two groups based on their total family atopy score: those with scores > 0 and those with scores of 0. The appearance of atopic dermatitis symptoms in the infants were evaluated until they reached 4 months of age. The incidence of atopic dermatitis in two groups was compared using Chi-square test. Results The incidence of atopic dermatitis in this study was 10.9%. The group with total family atopy scores of 0 had a significantly higher incidence of atopic dermatitis than the group with scores > 0 (adjusted RR 22.5; 95%CI 8.8 to 57.0; P = 0.001. Conclusion The incidence of atopic dermatitis is higher in infants with total family atopy score > 0 and this group has a 22.5 times higher risk of atopic dermatitis compared to infants with total family atopy score of 0. Allergy trace cards are relevant in differentiating the risk of atopy with regards to development of atopic dermatitis. We suggest that family atopy scores be evaluated during antenatal care in order to limit the development of atopic dermatitis in infants. [Paediatr Indones. 2014;54:330-7.].

  13. Novel compound heterozygous mutations in MYO7A Associated with Usher syndrome 1 in a Chinese family.

    Directory of Open Access Journals (Sweden)

    Xue Gao

    Full Text Available Usher syndrome is an autosomal recessive disease characterized by sensorineural hearing loss, age-dependent retinitis pigmentosa (RP, and occasionally vestibular dysfunction. The most severe form is Usher syndrome type 1 (USH1. Mutations in the MYO7A gene are responsible for USH1 and account for 29-55% of USH1 cases. Here, we characterized a Chinese family (no. 7162 with USH1. Combining the targeted capture of 131 known deafness genes, next-generation sequencing, and bioinformatic analysis, we identified two deleterious compound heterozygous mutations in the MYO7A gene: a reported missense mutation c.73G>A (p.G25R and a novel nonsense mutation c.462C>A (p.C154X. The two compound variants are absent in 219 ethnicity-matched controls, co-segregates with the USH clinical phenotypes, including hearing loss, vestibular dysfunction, and age-dependent penetrance of progressive RP, in family 7162. Therefore, we concluded that the USH1 in this family was caused by compound heterozygous mutations in MYO7A.

  14. Mutation p.Leu354Pro in EDA causes severe hypohidrotic ectodermal dysplasia in a Chinese family.

    Science.gov (United States)

    Liu, Ying; Yu, Xiaoyan; Wang, Lei; Li, Chang; Archacki, Stephen; Huang, Changzheng; Liu, Jing Yu; Wang, Qing; Liu, Mugen; Tang, Zhaohui

    2012-01-10

    X-linked recessive hypohidrotic ectodermal dysplasia (XLHED) is characterized by the defective morphogenesis of teeth, hair, and eccrine sweat glands. It is associated with mutations in the EDA gene. Up to now, more than 100 mutations in the EDA gene have been reported to cause XLHED. The product of EDA gene is a trimeric type II transmembrane protein that belongs to the tumor necrosis factor (TNF) family of ligands. In this study, we identified a Chinese family with XLHED. Direct DNA sequencing of the whole coding region of EDA revealed a novel missense mutation, p.Leu354Pro in a patient affected with XLHED. This mutation was not found in either unaffected male individuals of the family or 168 normal controls. The substitution of Leu354 with Pro was found to be located in the TNF-like domain of EDA and may influence the epithelial signaling pathway required for the normal ectodermal development through altering the topology of EDA. Our finding broadens the spectrum of EDA mutations and may help to understand the molecular basis of XLHED and aid genetic counseling. PMID:22008666

  15. Chinese immigrant high school students' cultural interactions, acculturation, family obligations, language use, and social support.

    Science.gov (United States)

    Yeh, Christine J; Okubo, Yuki; Ma, Pei-Wen Winnie; Shea, Munyi; Ou, Dongshu; Pituc, Stephanie T

    2008-01-01

    When immigrant youth come to the United States, they must learn to interact with dominant and cultural groups as part of the adjustment process. The current study investigated whether the association between Chinese immigrant high school students' (N = 286) English fluency, academic and career/ college help-seeking, multidimensional acculturation, family responsibilities, and social support, predicted their intercultural competence concerns (their interactions across dominant and cultural groups). Results indicate that this was the case. Implications for research and practice with immigrant youth in a high school context are discussed. PMID:19149145

  16. Antithrombin gene Arg197Stop mutation-associated venous sinus thrombosis in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    Ang Li; Dexin Wang; Qiming Xue; Baoen Wang; Tianhui Liu; Zhandong Liu; Jimei Li; Chunling Zhang; Jun Chen; Jinmei Sun; YanfeiHan; Lili Wang

    2011-01-01

    This study sought to elucidate the genetic correlation of cerebral venous sinus thrombosis caused by a hereditary antithrombin deficiency in a Chinese family, at the genetic and protein levels. A nonsense mutation from C to T on locus 6431 in exon 3B of the antithrombin gene was observed,leading to an arginine (CGA) to stop codon (TGA) change in the protein. This is the first report of this mutation in China. Ineffective heparin therapy in the propositus patient is associated with a lack of heparin binding sites after antithrombin gene mutation. Characteristic low intracranial pressure in the acute phase might be specific to this patient with cerebral venous sinus thrombosis.

  17. Chinese immigrant high school students' cultural interactions, acculturation, family obligations, language use, and social support.

    Science.gov (United States)

    Yeh, Christine J; Okubo, Yuki; Ma, Pei-Wen Winnie; Shea, Munyi; Ou, Dongshu; Pituc, Stephanie T

    2008-01-01

    When immigrant youth come to the United States, they must learn to interact with dominant and cultural groups as part of the adjustment process. The current study investigated whether the association between Chinese immigrant high school students' (N = 286) English fluency, academic and career/ college help-seeking, multidimensional acculturation, family responsibilities, and social support, predicted their intercultural competence concerns (their interactions across dominant and cultural groups). Results indicate that this was the case. Implications for research and practice with immigrant youth in a high school context are discussed.

  18. Genome-Wide Analysis of the bZIP Gene Family Identifies Two ABI5-Like bZIP Transcription Factors, BrABI5a and BrABI5b, as Positive Modulators of ABA Signalling in Chinese Cabbage.

    Directory of Open Access Journals (Sweden)

    Yili Bai

    Full Text Available bZIP (basic leucine zipper transcription factors coordinate plant growth and development and control responses to environmental stimuli. The genome of Chinese cabbage (Brassica rapa encodes 136 putative bZIP transcription factors. The bZIP transcription factors in Brassica rapa (BrbZIP are classified into 10 subfamilies. Phylogenetic relationship analysis reveals that subfamily A consists of 23 BrbZIPs. Two BrbZIPs within subfamily A, Bra005287 and Bra017251, display high similarity to ABI5 (ABA Insensitive 5. Expression of subfamily A BrbZIPs, like BrABI5a (Bra005287/BrbZIP14 and BrABI5b (Bra017251/BrbZIP13, are significantly induced by the plant hormone ABA. Subcellular localization assay reveal that both BrABI5a and BrABI5b have a nuclear localization. BrABI5a and BrABI5b could directly stimulate ABA Responsive Element-driven HIS (a HIS3 reporter gene, which confers His prototrophy or LUC (LUCIFERASE expression in yeast and Arabidopsis protoplast. Deletion of the bZIP motif abolished BrABI5a and BrABI5b transcriptional activity. The ABA insensitive phenotype of Arabidopsis abi5-1 is completely suppressed in transgenic lines expressing BrABI5a or BrABI5b. Overall, these results suggest that ABI5 orthologs, BrABI5a and BrABI5b, have key roles in ABA signalling in Chinese cabbage.

  19. Genome-Wide Analysis of the bZIP Gene Family Identifies Two ABI5-Like bZIP Transcription Factors, BrABI5a and BrABI5b, as Positive Modulators of ABA Signalling in Chinese Cabbage

    Science.gov (United States)

    Hu, Xiaochen; Sun, Congcong; Li, Yanlin; Wang, Dandan; Wang, Qinhu; Pei, Guoliang; Zhang, Yanfeng; Guo, Aiguang; Zhao, Huixian; Lu, Haibin; Mu, Xiaoqian; Hu, Jingjiang; Zhou, Xiaona; Xie, Chang Gen

    2016-01-01

    bZIP (basic leucine zipper) transcription factors coordinate plant growth and development and control responses to environmental stimuli. The genome of Chinese cabbage (Brassica rapa) encodes 136 putative bZIP transcription factors. The bZIP transcription factors in Brassica rapa (BrbZIP) are classified into 10 subfamilies. Phylogenetic relationship analysis reveals that subfamily A consists of 23 BrbZIPs. Two BrbZIPs within subfamily A, Bra005287 and Bra017251, display high similarity to ABI5 (ABA Insensitive 5). Expression of subfamily A BrbZIPs, like BrABI5a (Bra005287/BrbZIP14) and BrABI5b (Bra017251/BrbZIP13), are significantly induced by the plant hormone ABA. Subcellular localization assay reveal that both BrABI5a and BrABI5b have a nuclear localization. BrABI5a and BrABI5b could directly stimulate ABA Responsive Element-driven HIS (a HIS3 reporter gene, which confers His prototrophy) or LUC (LUCIFERASE) expression in yeast and Arabidopsis protoplast. Deletion of the bZIP motif abolished BrABI5a and BrABI5b transcriptional activity. The ABA insensitive phenotype of Arabidopsis abi5-1 is completely suppressed in transgenic lines expressing BrABI5a or BrABI5b. Overall, these results suggest that ABI5 orthologs, BrABI5a and BrABI5b, have key roles in ABA signalling in Chinese cabbage. PMID:27414644

  20. Genome-Wide Analysis of the bZIP Gene Family Identifies Two ABI5-Like bZIP Transcription Factors, BrABI5a and BrABI5b, as Positive Modulators of ABA Signalling in Chinese Cabbage.

    Science.gov (United States)

    Bai, Yili; Zhu, Wenbo; Hu, Xiaochen; Sun, Congcong; Li, Yanlin; Wang, Dandan; Wang, Qinhu; Pei, Guoliang; Zhang, Yanfeng; Guo, Aiguang; Zhao, Huixian; Lu, Haibin; Mu, Xiaoqian; Hu, Jingjiang; Zhou, Xiaona; Xie, Chang Gen

    2016-01-01

    bZIP (basic leucine zipper) transcription factors coordinate plant growth and development and control responses to environmental stimuli. The genome of Chinese cabbage (Brassica rapa) encodes 136 putative bZIP transcription factors. The bZIP transcription factors in Brassica rapa (BrbZIP) are classified into 10 subfamilies. Phylogenetic relationship analysis reveals that subfamily A consists of 23 BrbZIPs. Two BrbZIPs within subfamily A, Bra005287 and Bra017251, display high similarity to ABI5 (ABA Insensitive 5). Expression of subfamily A BrbZIPs, like BrABI5a (Bra005287/BrbZIP14) and BrABI5b (Bra017251/BrbZIP13), are significantly induced by the plant hormone ABA. Subcellular localization assay reveal that both BrABI5a and BrABI5b have a nuclear localization. BrABI5a and BrABI5b could directly stimulate ABA Responsive Element-driven HIS (a HIS3 reporter gene, which confers His prototrophy) or LUC (LUCIFERASE) expression in yeast and Arabidopsis protoplast. Deletion of the bZIP motif abolished BrABI5a and BrABI5b transcriptional activity. The ABA insensitive phenotype of Arabidopsis abi5-1 is completely suppressed in transgenic lines expressing BrABI5a or BrABI5b. Overall, these results suggest that ABI5 orthologs, BrABI5a and BrABI5b, have key roles in ABA signalling in Chinese cabbage. PMID:27414644

  1. Dynamic mutation analysis of a SCA3 Chinese Han family and prenatal diagnosis

    Directory of Open Access Journals (Sweden)

    LI Jing

    2012-06-01

    Full Text Available Objective To explore the clinical features, genetic characters and the importance of prenatal diagnosis in spinocerebellar ataxia 3 (SCA3 patients. Methods SCA3/ATXN3 gene was determined by using PCR and segmental analysis techniques in 2 patients among a SCA3 Chinese Han family which included 9 patients in four generations. One patient was the proband's fetus. The clinical characters were also documented and analyzed in this family. Results There were 9 patients in this family with autosomal dominant inheritance feature. The initial symptoms in all affected members except the fetus were the gait disorders accompanied by dysphasia. Inability of upward gaze and bilateral Barbinski's signs were noted in proband. The onset age became earlier from generation to generation in this family which was around 50 year-old, 40 to 45 year-old, 28 year-old in generation Ⅰ, Ⅱ and Ⅲ, respectively. CAG repeats in SCA3/ATXN3 allele were 77 in proband, as well as in the fetus, while the normal SCA3/ATXN3 allele CAG repeats were less than 44. Conclusion SCA3 is the most frequent subtype of SCA in Asian. Unsteadiness of gait are first noted in most patients accompanied by other different symptoms and signs. Genetic anticipation was found in SCA3. But gene analysis revealed less dynamic mutation frequence in this family. Since there was no effective treatment in SCA3, hereditary consultation and prenatal diagnosis play an important role in disease prevention and hereditary.

  2. Intergenerational transmission of dietary behaviours: A qualitative study of Anglo-Australian, Chinese-Australian and Italian-Australian three-generation families.

    Science.gov (United States)

    Rhodes, Kate; Chan, Flora; Prichard, Ivanka; Coveney, John; Ward, Paul; Wilson, Carlene

    2016-08-01

    Family food choice is complex with a number of people within the family sharing food choice and preparation responsibilities. Differences in dietary behaviours also exist between various ethnic groups worldwide, and are apparent within multicultural nations such as Australia. This study examined the intergenerational transmission of eating behaviour through semi-structured family interviews with 27 three generation families (Anglo-Australian: n = 11, Chinese-Australian: n = 8, Italian-Australian: n = 8; N = 114). The influence of generation (grandparent, parent, child), role (grandmother, grandfather, mother, father, daughter, son), and ethnic background were considered. Thematic analysis identified that regardless of ethnic background, grandmothers and mothers dominated family food choice decisions even in families where fathers were primarily responsible for the preparation of family meals. The women in each generation influenced fruit and vegetable intake by controlling purchasing decisions (e.g., by shopping for food or editing family grocery shopping lists), insisting on consumption, monitoring and reminding, utilizing food as a prerequisite for conditional treats (e.g., eating fruit before being allowed snacks), instigating and enforcing food rules (e.g., fast food only on weekends), and restricting others' food choices. Grandparents and children shared a relationship that skipped the parent generation and influenced dietary behaviours bi-directionally. These findings have implications for the delivery of dietary health messages used in disease prevention interventions designed to successfully reach culturally and linguistically diverse populations and all members of multigenerational families.

  3. Intergenerational transmission of dietary behaviours: A qualitative study of Anglo-Australian, Chinese-Australian and Italian-Australian three-generation families.

    Science.gov (United States)

    Rhodes, Kate; Chan, Flora; Prichard, Ivanka; Coveney, John; Ward, Paul; Wilson, Carlene

    2016-08-01

    Family food choice is complex with a number of people within the family sharing food choice and preparation responsibilities. Differences in dietary behaviours also exist between various ethnic groups worldwide, and are apparent within multicultural nations such as Australia. This study examined the intergenerational transmission of eating behaviour through semi-structured family interviews with 27 three generation families (Anglo-Australian: n = 11, Chinese-Australian: n = 8, Italian-Australian: n = 8; N = 114). The influence of generation (grandparent, parent, child), role (grandmother, grandfather, mother, father, daughter, son), and ethnic background were considered. Thematic analysis identified that regardless of ethnic background, grandmothers and mothers dominated family food choice decisions even in families where fathers were primarily responsible for the preparation of family meals. The women in each generation influenced fruit and vegetable intake by controlling purchasing decisions (e.g., by shopping for food or editing family grocery shopping lists), insisting on consumption, monitoring and reminding, utilizing food as a prerequisite for conditional treats (e.g., eating fruit before being allowed snacks), instigating and enforcing food rules (e.g., fast food only on weekends), and restricting others' food choices. Grandparents and children shared a relationship that skipped the parent generation and influenced dietary behaviours bi-directionally. These findings have implications for the delivery of dietary health messages used in disease prevention interventions designed to successfully reach culturally and linguistically diverse populations and all members of multigenerational families. PMID:27133550

  4. A novel mutation in NF1 is associated with diverse intra-familial phenotypic variation and astrocytoma in a Chinese family.

    Science.gov (United States)

    Banerjee, Santasree; Dai, Yi; Liang, Shengran; Chen, Huishuang; Wang, Yanyan; Tang, Lihui; Wu, Jing; Huang, Hui

    2016-09-01

    Neurofibromatosis type 1 (NF1) is a dysregulated neurocutaneous disorder, characterized by neurofibromas and café-au-lait spots. NF1 is caused by mutations in the NF1 gene, encoding neurofibromin. Here, we present a clinical molecular study of a three-generation Chinese family with NF1. The proband was a male patient who showed café-au-lait spots and multiple subcutaneous neurofibromas over the whole body, but his siblings only had regional lesions. The man's daughter presented with severe headache and vomiting. Neurological examination revealed an intracranial space occupying lesion. Surgery was undertaken and the histopathological examination showed a grade I-II astrocytoma. Next-Generation sequencing (Illumina HiSeq2500 Analyzers; Illumina, San Diego, CA, USA) and Sanger sequencing (ABI PRISM 3730 automated sequencer; Applied Biosystems, Foster City, CA, USA) identified the c.227delA mutation in the NF1 gene in the man. The mutation is co-segregated with the disease phenotypes among the affected members of this family and was absent in 100 healthy controls. This novel mutation results in a frameshift (p.Asn78IlefsX7) as well as truncation of neurofibromin by formation of a premature stop codon. Our results not only extended the mutational and phenotypic spectra of the gene and the disease, but also highlight the importance of the other genetic or environmental factors in the development and severity of the disease. PMID:27234610

  5. An investigation of the choice of governance modes in Chinese family firms

    Directory of Open Access Journals (Sweden)

    Jiancai Pi

    2015-12-01

    Full Text Available This paper aims to investigate the choice of governance modes in Chinese family firms. For that purpose, we build a principal-agent model to conduct our analyses. There are two modes of governance that the owner of the family firm can choose from, either the relational governance or the professional governance. The choice of governance modes is embodied in managerial compensation under different contractual arrangements. Our theoretical analyses show that under some conditions it is optimal for the owner to choose the relational governance, while under other conditions it is optimal for the owner to adopt the professional governance. That is to say, the choice of governance modes is condition-dependent

  6. Transmission of extensively drug-resistant and multidrug resistant Mycobacterium tuberculosis in families identified by genotyping

    Institute of Scientific and Technical Information of China (English)

    YAN Li-ping; QIN Lian-hua; ZHANG Qing; SUN Hua; HAN Min; XIAO He-ping

    2013-01-01

    Background Diagnosis and appropriate treatment of multidrug-resistant tuberculosis (MDR-TB) remain major challenges.We sought to elucidate that persons who share a household with drug resistance tuberculosis patients are at high risk for primary drug resistance tuberculosis and how to prevent these outbreaks.Methods We used 12-locus mycobacterial interspersed repetitive unit and 7-locus variable-number tandem repeat to identify household transmission of extensively drug resistant and multiple drug resistant Mycobacterium tuberculosis in three families admitted in Shanghai Pulmonary Hospital affiliated with Tongji University.Drug susceptibility tests were done by the modified proportion method in the MGIT 960 system in the same time.Clinical data were also obtained from the subjects' medical records.Results All of the six strains were defined as Beijing genotype by the deletion-targeted multiplex PCR (DTM-PCR) identification on the genomic deletion RD105.Strains from family-1 had the same minisatellite interspersed repetitive unit (MIRU) pattem (232225172531) and the same MIRU pattern (3677235).Strains from family-2 had the same MIRU pattern (2212261553323) and the same MIRU pattern (3685134).Strains from family-3 did not have the same MIRU pattern and they differed at only one locus (223326173533,223325173533),and did not have the same VNTR pattern with two locus differed (3667233,3677234).Conclusions Household transmission exists in the three families.A clear chain of tuberculosis transmission within family exists.Tuberculosis susceptibility should be considered when there is more than one tuberculosis patients in a family.Household tuberculosis transmission could be prevented with adequate treatment of source patients.

  7. The experiences and needs of Chinese-Canadian stroke survivors and family caregivers as they re-integrate into the community.

    Science.gov (United States)

    Yeung, Emily H L; Szeto, Amy; Richardson, Denyse; Lai, Suk-han; Lim, Eva; Cameron, Jill I

    2015-09-01

    Stroke is a leading cause of adult disability and community re-integration is a priority for stroke rehabilitation. In North America, we have a growing population of individuals whose first language is not English. Little is known about the experiences of visible minorities living in North America as they re-integrate into the community post stroke or how these experiences change over time. Specifically, this research aimed to explore the experiences and needs of Chinese stroke survivors and family caregivers as they return to community living using the Timing it Right Framework as a conceptual guide. We recruited Cantonese-speaking stroke survivors and family caregivers from outpatient rehabilitation programmes. Using qualitative interviews conducted in Cantonese or English, we examined their experiences and needs as they return to community living and explored the influence of culture and time on their experiences. The interviews were transcribed and translated, and then analysed using framework analysis. Using framework analysis, we coded the data corresponding to the phases of the Timing it Right framework to determine the influence of time on the themes. We interviewed five Cantonese-speaking stroke survivors and 13 caregivers in 2009. We identified two main themes: (i) Participants' education and support needs change over time and (ii) Chinese resources are needed across care environments. These resources include access to care in their preferred language, traditional Chinese medicine, and Chinese food during their recovery and rehabilitation. To optimise Chinese stroke survivors' and caregivers' community re-integration, healthcare professionals should provide timely and accessible education and be aware of the role of Chinese diet and traditional medicine in stroke survivors' rehabilitation. PMID:25443438

  8. Familial adenomatous polyposis patients without an identified APC germline mutation have a severe phenotype

    DEFF Research Database (Denmark)

    Bisgaard, M L; Ripa, R; Knudsen, Anne Louise;

    2004-01-01

    BACKGROUND: Development of more than 100 colorectal adenomas is diagnostic of the dominantly inherited autosomal disease familial adenomatous polyposis (FAP). Germline mutations can be identified in the adenomatous polyposis coli (APC) gene in approximately 80% of patients. The APC protein...... comprises several regions and domains for interaction with other proteins, and specific clinical manifestations are associated with the mutation assignment to one of these regions or domains. AIMS: The phenotype in patients without an identified causative APC mutation was compared with the phenotype...... in patients with a known APC mutation and with the phenotypes characteristic of patients with mutations in specific APC regions and domains. PATIENTS: Data on 121 FAP probands and 149 call up patients from 70 different families were extracted from the Danish Polyposis register. METHODS: Differences in 16...

  9. Whole exome sequencing identifies new causative mutations in Tunisian families with non-syndromic deafness.

    Directory of Open Access Journals (Sweden)

    Zied Riahi

    Full Text Available Identification of the causative mutations in patients affected by autosomal recessive non syndromic deafness (DFNB forms, is demanding due to genetic heterogeneity. After the exclusion of GJB2 mutations and other mutations previously reported in Tunisian deaf patients, we performed whole exome sequencing in patients affected with severe to profound deafness, from four unrelated consanguineous Tunisian families. Four biallelic non previously reported mutations were identified in three different genes: a nonsense mutation, c.208C>T (p.R70X, in LRTOMT, a missense mutation, c.5417T>C (p.L1806P, in MYO15A and two splice site mutations, c.7395+3G>A, and c.2260+2T>A, in MYO15A and TMC1 respectively. We thereby provide evidence that whole exome sequencing is a powerful, cost-effective screening tool to identify mutations causing recessive deafness in consanguineous families.

  10. Young Chinese Children's Anger and Distress: Emotion Category and Intensity Identified by the Time Course of Behaviors

    Science.gov (United States)

    He, Jie; Qiu, Peihua; Park, Ka Young; Xu, Qinmei; Potegal, Michael

    2013-01-01

    A hierarchical cluster analysis of the time course of the videotaped reactions of 75 Chinese 2-4-year olds to mothers' toy-removal identified Distress, Low Anger, and High Anger behavior clusters. Anger often begins at low intensity; some children then escalate. The face-validity of Low and High Anger-cluster classifications was supported in…

  11. Refined phenotyping identifies links between preeclampsia and related diseases in a Norwegian preeclampsia family cohort

    OpenAIRE

    Thomsen, Liv Cecilie Vestrheim; Melton, Philip E.; Tollaksen, Kjersti; Lyslo, Ingvill; Roten, Linda Tømmerdal; Odland, Maria Lisa; Strand, Kristin Melheim; Nygård, Ottar; Sun, Chen; Iversen, Ann-Charlotte; Austgulen, Rigmor; Moses, Eric; Bjørge, Line

    2015-01-01

    Objective: Preeclampsia is a complex genetic disease of pregnancy with a heterogenous presentation, unknown cause and potential severe outcomes for both mother and child. Preeclamptic women have increased risk for atherothrombotic cardiovascular disease. We aimed to identify heritabilities and phenotypic correlations of preeclampsia and related conditions in the Norwegian Preeclampsia Family Biobank. Methods: By applying a variance components model, a total of 493 individuals (from 138 fa...

  12. Development and Biotechnological Application of a Novel Endoxylanase Family GH10 Identified from Sugarcane Soil Metagenome

    OpenAIRE

    Alvarez, Thabata M.; Rosana Goldbeck; Camila Ramos dos Santos; Douglas A A Paixão; Gonçalves, Thiago A.; João Paulo L Franco Cairo; Rodrigo Ferreira Almeida; Isabela de Oliveira Pereira; George Jackson; Junio Cota; Fernanda Büchli; Ana Paula Citadini; Roberto Ruller; Carla Cristina Polo; Mario de Oliveira Neto

    2013-01-01

    Metagenomics has been widely employed for discovery of new enzymes and pathways to conversion of lignocellulosic biomass to fuels and chemicals. In this context, the present study reports the isolation, recombinant expression, biochemical and structural characterization of a novel endoxylanase family GH10 (SCXyl) identified from sugarcane soil metagenome. The recombinant SCXyl was highly active against xylan from beechwood and showed optimal enzyme activity at pH 6,0 and 45°C. The crystal str...

  13. Development of a Tool to Identify Poverty in a Family Practice Setting: A Pilot Study

    OpenAIRE

    Vanessa Brcic; Caroline Eberdt; Janusz Kaczorowski

    2011-01-01

    Objective. The goal of this pilot study was to develop and field-test questions for use as a poverty case-finding tool to assist primary care providers in identifying poverty in clinical practice. Methods. 156 questionnaires were completed by a convenience sample of urban and rural primary care patients presenting to four family practices in British Columbia, Canada. Univariate and multivariate logistic regression analyses compared questionnaire responses with low-income cut-off (LICO) levels...

  14. Using the high-risk family design to identify biomarkers for major depression

    OpenAIRE

    Talati, Ardesheer; Weissman, Myrna M.; Hamilton, Steven P.

    2013-01-01

    The familial nature of major depressive disorder (MDD) is now well recognized. We followed children and grandchildren of probands with and without MDD to examine transmission of depression over generations, and to identify early vulnerability markers prior to the onset of disease. The study now includes three generations and five completed assessment waves spanning 25 years, with a sixth wave underway. Beginning with the fourth wave, we collected measures of brain structure (magnetic resonanc...

  15. Parent Training With High-Risk Immigrant Chinese Families: A Pilot Group Randomized Trial Yielding Practice-Based Evidence

    OpenAIRE

    Lau, Anna S.; Fung, Joey J.; Ho, Lori Y.; Liu, Lisa L.; Gudiño, Omar G.

    2011-01-01

    We studied the efficacy and implementation outcomes of a culturally responsive parent training (PT) program. Fifty-four Chinese American parents participated in a wait-list controlled group randomized trial (32 immediate treatment, 22 delayed treatment) of a 14-week intervention designed to address the needs of high-risk immigrant families. Parents were eligible for intervention if they were Chinese-speaking immigrants referred from schools, community clinics, or child protective services wit...

  16. Family environment and adolescent psychological well-being, school adjustment, and problem behavior: a pioneer study in a Chinese context.

    Science.gov (United States)

    Shek, D T

    1997-03-01

    Chinese secondary school students (N = 365) responded to instruments measuring their family environment, psychological well-being, school adjustment, and problem behavior. Measures of the family environment include perceived paternal and maternal parenting styles, family functioning, and conflict with father and mother. Results from bivariate and canonical correlation analyses showed that in general, adolescents' perceptions of parenting styles, family functioning, and parent-adolescent conflict were significantly related to scores on measures of psychological well-being (general psychiatric morbidity, life satisfaction, purpose in life, hopelessness, and self-esteem), school adjustment (perceived academic performance and school conduct), and problem behavior (smoking and psychotropic drug abuse). The findings suggest that family factors play an important role in influencing the psychosocial adjustment, particularly the positive mental health, of Chinese adolescents.

  17. Family environment and adolescent psychological well-being, school adjustment, and problem behavior: a pioneer study in a Chinese context.

    Science.gov (United States)

    Shek, D T

    1997-03-01

    Chinese secondary school students (N = 365) responded to instruments measuring their family environment, psychological well-being, school adjustment, and problem behavior. Measures of the family environment include perceived paternal and maternal parenting styles, family functioning, and conflict with father and mother. Results from bivariate and canonical correlation analyses showed that in general, adolescents' perceptions of parenting styles, family functioning, and parent-adolescent conflict were significantly related to scores on measures of psychological well-being (general psychiatric morbidity, life satisfaction, purpose in life, hopelessness, and self-esteem), school adjustment (perceived academic performance and school conduct), and problem behavior (smoking and psychotropic drug abuse). The findings suggest that family factors play an important role in influencing the psychosocial adjustment, particularly the positive mental health, of Chinese adolescents. PMID:9120405

  18. Patient- and Family-Identified Problems of Traumatic Brain Injury: Value and Utility of a Target Outcome Approach to Identifying the Worst Problems

    Directory of Open Access Journals (Sweden)

    Laraine Winter

    2016-01-01

    Full Text Available Purpose: This study aimed to identify the sequelae of traumatic brain injury (TBI that are most troubling to veterans with TBI and their families and identify veteran-family differences in content and ranking. Instead of standardized measures of symptom frequency or severity, which may be insensitive to change or intervention effects, we used a target outcome measure for veterans with TBI and their key family members, which elicited open-ended reports concerning the three most serious TBI-related problems. This was followed by Likert-scaled ratings of difficulty in managing the problem. Methods: In this cross-sectional study, interviews were conducted in veterans’ homes. Participants included 83 veterans with TBI diagnosed at a Veterans Affairs medical rehabilitation service and a key family member of each veteran. We utilized open-ended questions to determine the problems caused by TBI within the last month. Sociodemographic characteristics of veterans and family members, and veterans’ military and medical characteristics were collected. A coding scheme was developed to categorize open-ended responses. Results: Families identified nearly twice as many categories of problems as did veterans, and veterans and families ranked problem categories very differently. Veterans ranked cognitive and physical problems worst; families ranked emotional and interpersonal problems worst. Conclusions: Easily administered open-ended questions about the most troubling TBI-related problems yield novel insights and reveal important veteran-family discrepancies.

  19. X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes.

    Science.gov (United States)

    Hu, H; Haas, S A; Chelly, J; Van Esch, H; Raynaud, M; de Brouwer, A P M; Weinert, S; Froyen, G; Frints, S G M; Laumonnier, F; Zemojtel, T; Love, M I; Richard, H; Emde, A-K; Bienek, M; Jensen, C; Hambrock, M; Fischer, U; Langnick, C; Feldkamp, M; Wissink-Lindhout, W; Lebrun, N; Castelnau, L; Rucci, J; Montjean, R; Dorseuil, O; Billuart, P; Stuhlmann, T; Shaw, M; Corbett, M A; Gardner, A; Willis-Owen, S; Tan, C; Friend, K L; Belet, S; van Roozendaal, K E P; Jimenez-Pocquet, M; Moizard, M-P; Ronce, N; Sun, R; O'Keeffe, S; Chenna, R; van Bömmel, A; Göke, J; Hackett, A; Field, M; Christie, L; Boyle, J; Haan, E; Nelson, J; Turner, G; Baynam, G; Gillessen-Kaesbach, G; Müller, U; Steinberger, D; Budny, B; Badura-Stronka, M; Latos-Bieleńska, A; Ousager, L B; Wieacker, P; Rodríguez Criado, G; Bondeson, M-L; Annerén, G; Dufke, A; Cohen, M; Van Maldergem, L; Vincent-Delorme, C; Echenne, B; Simon-Bouy, B; Kleefstra, T; Willemsen, M; Fryns, J-P; Devriendt, K; Ullmann, R; Vingron, M; Wrogemann, K; Wienker, T F; Tzschach, A; van Bokhoven, H; Gecz, J; Jentsch, T J; Chen, W; Ropers, H-H; Kalscheuer, V M

    2016-01-01

    X-linked intellectual disability (XLID) is a clinically and genetically heterogeneous disorder. During the past two decades in excess of 100 X-chromosome ID genes have been identified. Yet, a large number of families mapping to the X-chromosome remained unresolved suggesting that more XLID genes or loci are yet to be identified. Here, we have investigated 405 unresolved families with XLID. We employed massively parallel sequencing of all X-chromosome exons in the index males. The majority of these males were previously tested negative for copy number variations and for mutations in a subset of known XLID genes by Sanger sequencing. In total, 745 X-chromosomal genes were screened. After stringent filtering, a total of 1297 non-recurrent exonic variants remained for prioritization. Co-segregation analysis of potential clinically relevant changes revealed that 80 families (20%) carried pathogenic variants in established XLID genes. In 19 families, we detected likely causative protein truncating and missense variants in 7 novel and validated XLID genes (CLCN4, CNKSR2, FRMPD4, KLHL15, LAS1L, RLIM and USP27X) and potentially deleterious variants in 2 novel candidate XLID genes (CDK16 and TAF1). We show that the CLCN4 and CNKSR2 variants impair protein functions as indicated by electrophysiological studies and altered differentiation of cultured primary neurons from Clcn4(-/-) mice or after mRNA knock-down. The newly identified and candidate XLID proteins belong to pathways and networks with established roles in cognitive function and intellectual disability in particular. We suggest that systematic sequencing of all X-chromosomal genes in a cohort of patients with genetic evidence for X-chromosome locus involvement may resolve up to 58% of Fragile X-negative cases.

  20. A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II.

    Science.gov (United States)

    Wang, HaoYang; Hou, YanNing; Cui, YingXia; Huang, YuFeng; Shi, YiChao; Xia, XinYi; Lu, HongYong; Wang, YunHua; Li, XiaoJun

    2009-03-01

    Twenty-four individuals were investigated that spanned six generations in a Chinese family affected with an apparently autosomal dominant form of dentinogenesis imperfecta type II (DGI-II, OMIM #125490). All affected individuals presented with typical, clinical and radiographic features of DGI-II, but without bilateral progressive high-frequency sensorineural hearing loss. To investigate the mutated molecule, a positional candidate approach was used to determine the mutated gene in this family. Genomic DNA was obtained from 24 affected individuals, 18 unaffected relatives of the family and 50 controls. Haplotype analysis was performed using leukocyte DNA for 6 short tandem repeat (STR) markers present in chromosome 4 (D4S1534, GATA62A11, DSPP, DMP1, SPP1 and D4S1563). In the critical region between D4S1534 and DMP1, the dentin sialophosphoprotein (DSPP) gene (OMIM *125485) was considered as the strongest candidate gene. The first four exons and exon/intron boundaries of the gene were analyzed using DNA from 24 affected individuals and 18 unaffected relatives of the same family. DNA sequencing revealed a heterozygous deletion mutation in intron 2 (at positions -3 to -25), which resulted in a frameshift mutation, that changed the acceptor site sequence from CAG to AAG (IVS2-3C-->A) and may also have disrupted the branch point consensus sequence in intron 2. The mutation was found in the 24 affected individuals, but not in the 18 unaffected relatives and 50 controls. The deletion was identified by allele-specific sequencing and denaturing high-performance liquid chromatography (DHPLC) analysis. We conclude that the heterozygous deletion mutation contributed to the pathogenesis of DGI-II.

  1. A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II

    Energy Technology Data Exchange (ETDEWEB)

    Wang Haoyang [Institute of Laboratory Medicine, Jinling Hospital, School of Medicine, Nanjing University, Nanjing 210002 (China); Hou Yanning [Department of Stomatology, Third Affiliated Hospital, Nanjing Traditional Chinese Medicine University, Nanjing 210001 (China); Cui Yingxia [Institute of Laboratory Medicine, Jinling Hospital, School of Medicine, Nanjing University, Nanjing 210002 (China)], E-mail: cuiyx55@yahoo.com.cn; Huang Yufeng [Institute of Laboratory Medicine, Jinling Hospital, School of Medicine, Nanjing University, Nanjing 210002 (China)], E-mail: huangyf@androl.cn; Shi Yichao; Xia Xinyi; Lu Hongyong; Wang Yunhua; Li Xiaojun [Institute of Laboratory Medicine, Jinling Hospital, School of Medicine, Nanjing University, Nanjing 210002 (China)

    2009-03-09

    Twenty-four individuals were investigated that spanned six generations in a Chinese family affected with an apparently autosomal dominant form of dentinogenesis imperfecta type II (DGI-II, OMIM 125490). All affected individuals presented with typical, clinical and radiographic features of DGI-II, but without bilateral progressive high-frequency sensorineural hearing loss. To investigate the mutated molecule, a positional candidate approach was used to determine the mutated gene in this family. Genomic DNA was obtained from 24 affected individuals, 18 unaffected relatives of the family and 50 controls. Haplotype analysis was performed using leukocyte DNA for 6 short tandem repeat (STR) markers present in chromosome 4 (D4S1534, GATA62A11, DSPP, DMP1, SPP1 and D4S1563). In the critical region between D4S1534 and DMP1, the dentin sialophosphoprotein (DSPP) gene (OMIM *125485) was considered as the strongest candidate gene. The first four exons and exon/intron boundaries of the gene were analyzed using DNA from 24 affected individuals and 18 unaffected relatives of the same family. DNA sequencing revealed a heterozygous deletion mutation in intron 2 (at positions -3 to -25), which resulted in a frameshift mutation, that changed the acceptor site sequence from CAG to AAG (IVS2-3C{yields}A) and may also have disrupted the branch point consensus sequence in intron 2. The mutation was found in the 24 affected individuals, but not in the 18 unaffected relatives and 50 controls. The deletion was identified by allele-specific sequencing and denaturing high-performance liquid chromatography (DHPLC) analysis. We conclude that the heterozygous deletion mutation contributed to the pathogenesis of DGI-II.

  2. A novel splice site mutation in the dentin sialophosphoprotein gene in a Chinese family with dentinogenesis imperfecta type II

    International Nuclear Information System (INIS)

    Twenty-four individuals were investigated that spanned six generations in a Chinese family affected with an apparently autosomal dominant form of dentinogenesis imperfecta type II (DGI-II, OMIM 125490). All affected individuals presented with typical, clinical and radiographic features of DGI-II, but without bilateral progressive high-frequency sensorineural hearing loss. To investigate the mutated molecule, a positional candidate approach was used to determine the mutated gene in this family. Genomic DNA was obtained from 24 affected individuals, 18 unaffected relatives of the family and 50 controls. Haplotype analysis was performed using leukocyte DNA for 6 short tandem repeat (STR) markers present in chromosome 4 (D4S1534, GATA62A11, DSPP, DMP1, SPP1 and D4S1563). In the critical region between D4S1534 and DMP1, the dentin sialophosphoprotein (DSPP) gene (OMIM *125485) was considered as the strongest candidate gene. The first four exons and exon/intron boundaries of the gene were analyzed using DNA from 24 affected individuals and 18 unaffected relatives of the same family. DNA sequencing revealed a heterozygous deletion mutation in intron 2 (at positions -3 to -25), which resulted in a frameshift mutation, that changed the acceptor site sequence from CAG to AAG (IVS2-3C→A) and may also have disrupted the branch point consensus sequence in intron 2. The mutation was found in the 24 affected individuals, but not in the 18 unaffected relatives and 50 controls. The deletion was identified by allele-specific sequencing and denaturing high-performance liquid chromatography (DHPLC) analysis. We conclude that the heterozygous deletion mutation contributed to the pathogenesis of DGI-II

  3. Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration.

    Science.gov (United States)

    Yu, Yi; Triebwasser, Michael P; Wong, Edwin K S; Schramm, Elizabeth C; Thomas, Brett; Reynolds, Robyn; Mardis, Elaine R; Atkinson, John P; Daly, Mark; Raychaudhuri, Soumya; Kavanagh, David; Seddon, Johanna M

    2014-10-01

    We sequenced the whole exome of 35 cases and 7 controls from 9 age-related macular degeneration (AMD) families in whom known common genetic risk alleles could not explain their high disease burden and/or their early-onset advanced disease. Two families harbored novel rare mutations in CFH (R53C and D90G). R53C segregates perfectly with AMD in 11 cases (heterozygous) and 1 elderly control (reference allele) (LOD = 5.07, P = 6.7 × 10(-7)). In an independent cohort, 4 out of 1676 cases but none of the 745 examined controls or 4300 NHBLI Exome Sequencing Project (ESP) samples carried the R53C mutation (P = 0.0039). In another family of six siblings, D90G similarly segregated with AMD in five cases and one control (LOD = 1.22, P = 0.009). No other sample in our large cohort or the ESP had this mutation. Functional studies demonstrated that R53C decreased the ability of FH to perform decay accelerating activity. D90G exhibited a decrease in cofactor-mediated inactivation. Both of these changes would lead to a loss of regulatory activity, resulting in excessive alternative pathway activation. This study represents an initial application of the whole-exome strategy to families with early-onset AMD. It successfully identified high impact alleles leading to clearer functional insight into AMD etiopathogenesis. PMID:24847005

  4. Exome analysis of a family with Wolff-Parkinson-White syndrome identifies a novel disease locus.

    Science.gov (United States)

    Bowles, Neil E; Jou, Chuanchau J; Arrington, Cammon B; Kennedy, Brett J; Earl, Aubree; Matsunami, Norisada; Meyers, Lindsay L; Etheridge, Susan P; Saarel, Elizabeth V; Bleyl, Steven B; Yost, H Joseph; Yandell, Mark; Leppert, Mark F; Tristani-Firouzi, Martin; Gruber, Peter J

    2015-12-01

    Wolff-Parkinson-White (WPW) syndrome is a common cause of supraventricular tachycardia that carries a risk of sudden cardiac death. To date, mutations in only one gene, PRKAG2, which encodes the 5'-AMP-activated protein kinase subunit γ-2, have been identified as causative for WPW. DNA samples from five members of a family with WPW were analyzed by exome sequencing. We applied recently designed prioritization strategies (VAAST/pedigree VAAST) coupled with an ontology-based algorithm (Phevor) that reduced the number of potentially damaging variants to 10: a variant in KCNE2 previously associated with Long QT syndrome was also identified. Of these 11 variants, only MYH6 p.E1885K segregated with the WPW phenotype in all affected individuals and was absent in 10 unaffected family members. This variant was predicted to be damaging by in silico methods and is not present in the 1,000 genome and NHLBI exome sequencing project databases. Screening of a replication cohort of 47 unrelated WPW patients did not identify other likely causative variants in PRKAG2 or MYH6. MYH6 variants have been identified in patients with atrial septal defects, cardiomyopathies, and sick sinus syndrome. Our data highlight the pleiotropic nature of phenotypes associated with defects in this gene.

  5. Development of a Tool to Identify Poverty in a Family Practice Setting: A Pilot Study

    Directory of Open Access Journals (Sweden)

    Vanessa Brcic

    2011-01-01

    Full Text Available Objective. The goal of this pilot study was to develop and field-test questions for use as a poverty case-finding tool to assist primary care providers in identifying poverty in clinical practice. Methods. 156 questionnaires were completed by a convenience sample of urban and rural primary care patients presenting to four family practices in British Columbia, Canada. Univariate and multivariate logistic regression analyses compared questionnaire responses with low-income cut-off (LICO levels calculated for each respondent. Results. 35% of respondents were below the “poverty line” (LICO. The question “Do you (ever have difficulty making ends meet at the end of the month?” was identified as a good predictor of poverty (sensitivity 98%; specificity 60%; OR 32.3, 95% CI 5.4–191.5. Multivariate analysis identified a 3-item case-finding tool including 2 additional questions about food and housing security (sensitivity 64.3%; specificity 94.4%; OR 30.2, 95% CI 10.3–88.1. 85% of below-LICO respondents felt that poverty screening was important and 67% felt comfortable speaking to their family physician about poverty. Conclusions. Asking patients directly about poverty may help identify patients with increased needs in primary care.

  6. A novel mutation in proprotein convertase subtilisin/kexin type 9 gene leads to familial hypercholesterolemia in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    LIN Jie; JIANG Zhi-sheng; WANG Lu-ya; LIU Shu; WANG Xu-min; YONG Qiang; YANG Ya; DU Lan-ping; PAN Xiao-dong; WANG Xu

    2010-01-01

    Background Familial hypercholesterolemia (FH) is an autosomal disorder associated with elevated plasma low density lipoprotein (LDL) levels leading to premature coronary heart disease (CHD). As a result of long-term hyperlipemia, FH patients will present endarterium thickening and atherosclerosis. In the present study we scanned the related gene of a clinically diagnosed autosomal genetic hypercholesterolemia family for the possible mutations and established eukaryotic expression vector of mutation of proprotein convertase subtilisin/kexin type 9 (PCSK9) gene with gene recombination technique to investigate the contributions of the variation on low density lipoprotein receptor (LDL-R) metabolism and function alternation.Methods Mutation detection was conducted for LDL-R, apolipoprotein B100 (apoB100) and PCSK9 gene with nucleotide sequencing in a Chinese FH family. The full-length cDNA of wild type PCSK9 gene (WT-PCSK9) was obtained from Bel-7402. Site mutagenesis was used to establish the recombinant eukaryotic expression vector carrying pathogenic type of PCSK9 gene and the inserted fragment was sequenced. With the blank vector as control, liposome transfection method was used to transfect the Bel-7402 cells with recombinant plasmid. The expression of LDL-R mRNA was examined by RT-PCR. PCSK9 and the expression of LDL-R protein were determined by Western blotting. Results The G→T mutation at the 918 nucleotide of PCSK9 gene resulted in the substitution of the arginine by a serine at the codon 306 of exon 6. After sequencing, it was confirmed that the inserted fragment of established expression vector had correct size and sequence and the mutant was highly expressed in Bel-7402 cells. There was no significant variation in the levels of LDL-R mRNA. LDL-R mature protein was decreased by 57% after the cells were transfected by WT-PCSK9 plasmid. Mature LDL-R was significantly decreased by 12% after the cells were transfected by R306S mutant as evidenced by gray scale

  7. Preimplantation genetic diagnosis for a Chinese family with autosomal recessive Meckel-Gruber syndrome type 3 (MKS3.

    Directory of Open Access Journals (Sweden)

    Yanping Lu

    Full Text Available Meckel-Gruber syndrome type 3 is an autosomal recessive genetic defect caused by mutations in TMEM67 gene. In our previous study, we have identified a homozygous TMEM67 mutation in a Chinese family exhibiting clinical characteristics of MKS3, which provided a ground for further PGD procedure. Here we report the development and the first clinical application of the PGD for this MKS3 family. Molecular analysis protocol for clinical PGD procedure was established using 50 single cells in pre-clinical set-up. After whole genomic amplification by multiple displacement amplification with the DNA from single cells, three techniques were applied simultaneously to increase the accuracy and reliability of genetic diagnosis in single blastomere, including real-time PCR with Taq Man-MGB probe, haplotype analysis with polymorphic STR markers and Sanger sequencing. In the clinical PGD cycle, nine embryos at cleavage-stage were biopsied and subjected to genetic diagnosis. Two embryos diagnosed as free of TMEM67 mutation were transferred and one achieving normal pregnancy. Non-invasive prenatal assessment of trisomy 13, 18 and 21 by multiplex DNA sequencing at 18 weeks' gestation excluded the aneuploidy of the analyzed chromosomes. A healthy boy was delivered by cesarean section at 39 weeks' gestation. DNA sequencing from his cord blood confirmed the result of genetic analysis in the PGD cycle. The protocol developed in this study was proved to be rapid and safe for the detection of monogenic mutations in clinical PGD cycle.

  8. Ideological changes identified in and through Linguistic expressions: what should stand for Korea in Chinese, chaoxian1 or Hanguo ? Ideological changes identified in and through Linguistic expressions: what should stand for Korea in Chinese, chaoxian1 or Hanguo ?

    Directory of Open Access Journals (Sweden)

    Stanley Zhongwei Song

    2008-04-01

    Full Text Available This paper presents an attempt to explain changes of China’s dominant ideology, the socialist ideology identified in and through linguistic expressions. By analysing from a historical perspective the meanings potential of the word Korea with its correlated expressions in Chinese, it highlights how deeply the way of referring to two Koreas has been influenced under the traditional ideology of the Chinese society, manipulated by the communist ideology in socialist China and challenged by less powerful yet emerging ideologies in market-oriented China. With the major linguistic references in Chinese to two political entities in the Korean peninsula, North and South Korea, the paper studies the relationship between ideological changes in modern Chinese society and linguistic expressions that, as part of the system of language, reflect ideological investments in and political implications of the changes. Added with a translation-related case study with a focus of emphasis on the word Korea, it concludes that with a flourishing of cultural pluralism in China, usually a forerunner of political pluralism, less dominant ideologies do compete with the official ideology in various ways and forms, and the competition can be traced and identified in and through linguistic expressions. In other words, given the political and economic dynamics of China in the past half century, change of linguistic expressions may indicate, in one way or another, the wax and wane of the Chinese dominant socialist ideology in a dialectical sense. This paper presents an attempt to explain changes of China’s dominant ideology, the socialist ideology identified in and through linguistic expressions. By analysing from a historical perspective the meanings potential of the word Korea with its correlated expressions in Chinese, it highlights how deeply the way of referring to two Koreas has been influenced under the traditional ideology of the Chinese society, manipulated by

  9. Immigrant-Chinese and Euro-American parents' physical closeness with young children: themes of family relatedness.

    Science.gov (United States)

    Rothbaum, F; Morelli, G; Pott, M; Liu-Constant, Y

    2000-09-01

    This study examined cultural differences in the expression and meaning of physical closeness. Findings indicated that immigrant-Chinese parents, as compared with Euro-American parents, sleep in closer proximity with their children; more often view independence as children growing with the family; are more likely to emphasize the family unit; and place greater importance on inhibition of expression, adherence to correct values, and hierarchy of relations. Euro-Americans, by contrast, are more accepting of nudity; place more emphasis on psychological benefits of physical closeness and on the child's expression of wants and feelings; more often view independence as celebrating the child's distinctiveness; and place greater importance on intimacy, pleasure, and spousal exclusiveness. The authors suggest that closeness is characterized by an overarching theme of harmony in immigrant-Chinese families and by an overarching theme of romance in Euro-American families. PMID:11025928

  10. Mitochondrial genome variations and functional characterization in Han Chinese families with schizophrenia.

    Science.gov (United States)

    Bi, Rui; Tang, Jinsong; Zhang, Wen; Li, Xiao; Chen, Shi-Yi; Yu, Dandan; Chen, Xiaogang; Yao, Yong-Gang

    2016-03-01

    The relationship between mitochondrial DNA (mtDNA) variants and schizophrenia has been strongly debated. To test whether mtDNA variants are involved in schizophrenia in Han Chinese patients, we sequenced the entire mitochondrial genomes of probands from 11 families with a family history and maternal inheritance pattern of schizophrenia. Besides the haplogroup-specific variants, we found 11 nonsynonymous private variants, one rRNA variant, and one tRNA variant in 5 of 11 probands. Among the nonsynonymous private variants, mutations m.15395 A>G and m.8536 A>G were predicted to be deleterious after web-based searches and in silico program affiliated analysis. Functional characterization further supported the potential pathogenicity of the two variants m.15395 A>G and m.8536 A>G to cause mitochondrial dysfunction at the cellular level. Our results showed that mtDNA variants were actively involved in schizophrenia in some families with maternal inheritance of this disease. PMID:26822593

  11. Incidental mild hyperglycemia in children: two MODY 2 families identified in Brazilian subjects.

    Science.gov (United States)

    Caetano, Lílian A; Jorge, Alexander A L; Malaquias, Alexsandra C; Trarbach, Ericka B; Queiroz, Márcia S; Nery, Márcia; Teles, Milena G

    2012-11-01

    Maturity-onset diabetes of the young (MODY) is characterized by an autosomal dominant mode of inheritance, early onset of hyperglycemia, and defects of insulin secretion. MODY subtypes described present genetic, metabolic, and clinical differences. MODY 2 is characterized by mild asymptomatic fasting hyperglycemia, and rarely requires pharmacological treatment. Hence, precise diagnosis of MODY is important for determining management and prognosis. We report two heterozygous GCK mutations identified during the investigation of short stature. Case 1: a prepubertal 14-year-old boy was evaluated for constitutional delay of growth and puberty. During follow-up, he showed abnormal fasting glucose (113 mg/dL), increased level of HbA1c (6.6%), and negative β-cell antibodies. His father and two siblings also had slightly elevated blood glucose levels. The mother had normal glycemia. A GCK heterozygous missense mutation, p.Arg191Trp, was identified in the proband. Eighteen family members were screened for this mutation, and 11 had the mutation in heterozygous state. Case 2: a 4-year-old boy investigated for short stature revealed no other laboratorial alterations than elevated glycemia (118 mg/dL); β-cell antibodies were negative. His father, a paternal aunt, and the paternal grandmother also had slightly elevated glycemia, whereas his mother had normal glycemia. A GCK heterozygous missense mutation, p.Glu221Lys, was identified in the index patient and in four family members. All affected patients had mild elevated glycemia. Individuals with normal glycemia did not harbor mutations. GCK mutation screening should be considered in patients with chronic mild early-onset hyperglycemia, family history of impaired glycemia, and negative β-cell antibodies. PMID:23295292

  12. Mutation detection of type Ⅱ hair cortex keratin gene KRT86 in a Chinese Han family with congenital monilethrix

    Institute of Scientific and Technical Information of China (English)

    YE Zhen-zhen; NAN Xu; ZHAO Hong-shan; CHEN Xue-rong; SONG Qing-hua

    2013-01-01

    Background Monilethrix is an autosomal dominant hair disorder characterized clinically by alopecia and follicular papules.In this study,we collected a Han monilethrix family to detect the mutations in patients and investigated the correlation between the genotype and phenotype of monilethrix.Methods In this study,we identified a Chinese family with monilethrix through light microscopic and scanning electron microscopic (SEM) examination.Genomic DNA from peripheral blood samples was prepared.DNA samples from controls and monilethrix patients were subject to polymerase chain reaction (PCR) amplification.Two pairs of primers were used to amplify the seventh exon of KRT86.Mutation screening of the PCR products was detected using direct sequencing.Results Light microscopic examination showed a regular alternate enlargement and narrow area.SEM examination showed that part of the cuticle of the nodules shed and disappeared gradually in the narrow area with granular protrusions on the surface similar to the erosion-like structure.Parallel longitudinal ridge and groovepattern appeared,and the ridges varied in width,like dead wood.A heterozygous transversion mutation c.1204G>A(p.E402K) in the seventh exon of KRT86 was identified in both patients.Conclusions The mutation of extron 7 of KRT86 identified plays a major role in the pathogenesis of this pedigree with monilethrix,and is a mutation hot spot of KRT86.Further research is needed to explore the relationship between the phenotype and the mutation of the type Ⅱ hair keratin gene KRT86 of monilethrix.

  13. Identification of a Novel Heterozygous Missense Mutation in the CACNA1F Gene in a Chinese Family with Retinitis Pigmentosa by Next Generation Sequencing

    Directory of Open Access Journals (Sweden)

    Qi Zhou

    2015-01-01

    Full Text Available Background. Retinitis pigmentosa (RP is an inherited retinal degenerative disease, which is clinically and genetically heterogeneous, and the inheritance pattern is complex. In this study, we have intended to study the possible association of certain genes with X-linked RP (XLRP in a Chinese family. Methods. A Chinese family with RP was recruited, and a total of seven individuals were enrolled in this genetic study. Genomic DNA was isolated from peripheral leukocytes, and used for the next generation sequencing (NGS. Results. The affected individual presented the clinical signs of XLRP. A heterozygous missense mutation (c.1555C>T, p.R519W was identified by NGS in exon 13 of the CACNA1F gene on X chromosome, and was confirmed by Sanger sequencing. It showed perfect cosegregation with the disease in the family. The mutation at this position in the CACNA1F gene of RP was found novel by database searching. Conclusion. By using NGS, we have found a novel heterozygous missense mutation (c.1555C>T, p.R519W in CACNA1F gene, which is probably associated with XLRP. The findings might provide new insights into the cause and diagnosis of RP, and have implications for genetic counseling and clinical management in this family.

  14. An effect from anticipation also in hereditary nonpolyposis colorectal cancer families without identified mutations

    DEFF Research Database (Denmark)

    Timshel, Susanne; Therkildsen, Christina; Bendahl, Pär-Ola;

    2009-01-01

    Optimal prevention of hereditary cancer is central and requires initiation of surveillance programmes and/or prophylactic measures at a safe age. Anticipation, expressed as an earlier age at onset in successive generations, has been demonstrated in hereditary nonpolyposis colorectal cancer (HNPCC...... the Amsterdam criteria for HNPCC and showed normal MMR function and/or lack of disease-predisposing MMR gene mutation. In total, 319 cancers from 212 parent-child pairs in 99 families were identified. A paired t-test and a bivariate statistical model were used to assess anticipation. Both methods demonstrated...

  15. Identification of a novel lethal fibrillin-1 gene mutation in a Chinese Marfan family and correlation of 3'fibrillin-1 gene mutations with phenotype

    Institute of Scientific and Technical Information of China (English)

    GAO Ling-gen; ZHANG Lin; SONG Lei; WANG Hu; CHANG Qian; WU Yong-bo; HUI Ru-tai; ZHOU Xian-liang

    2010-01-01

    Background Mutations in the fibrillin-1 gene have been identified in patients with Marfan syndrome (MFS). This study aimed to identify the molecular defects in the fibrillin-1 gene in a Chinese family with Marfan syndrome, accompanied by aortic aneurysms/dissection.Methods Two patients and one non-carrier in the family underwent complete physical, ophthalmic, and cardiovascular examinations. Genomic DNA was extracted from leukocytes of venous blood of these individuals in the family as well as 50 healthy normal controls. Polymerase chain reaction amplification and direct sequencing of all 65 coding exons of fibrillin-1 gene were analyzed.Results We found a novel mutation (c.8547T>G, p. Tyr2849X) in exon 65 of fibrillin-1 gene in a Chinese proband with Marfan syndrome, accompanied by aortic aneurysms/dissection. Sudden death at a young age of affected members was seen due to aortic aneurysms/dissection. By evaluating genotype-phenotype correlations of patients with mutations in the 3'end of fibrillin-1 gene (exons 64 and 65), we also found that the presence of nonsense mutations occurring in exons 64 and 65 appeared to be an indicator of early-onset aortic risk and sudden death.Conclusions These results expand the mutation spectrum of fibrillin-1 gene and help in the study of the molecular pathogenesis of Marfan syndrome, indicating that mutations occurring in the 3' end of fibrillin-1 gene may play an independent functional role in the pathogenesis of Marfan syndrome.

  16. The Effect of Implicit-Explicit Followership Congruence on Benevolent Leadership: Evidence from Chinese Family Firms.

    Science.gov (United States)

    Wang, Xiao; Peng, Jian

    2016-01-01

    Benevolent leadership, a traditional Chinese leadership style generated under the influence of Confucianism, has been under growing discussion since its proposal. However, existing research has focused mainly on the consequences of benevolent leadership, and research probing into its antecedents is scarce. To fill such research gap, the current study aims to explore the effect of the congruence between implicit positive followership prototype (PFP) and explicit positive followership trait (PFT) on benevolent leadership. Polynomial regression combined with the response surface methodology was used to test the hypotheses herein. The results, based on a sample of 241 leader-follower dyads from four Chinese family firms, indicated the following: (1) benevolent leadership is higher when leader PFP is congruent with follower PFT than when they are incongruent; (2) in cases of congruence, benevolent leadership is higher when leader PFP and follower PFT are both high rather than low; (3) in the case of incongruence, there is no significant difference for the level of benevolent leadership in two scenarios: "low leader PFP - high follower PFT" and "high leader PFP - low follower PFT". PMID:27375514

  17. The Effect of Implicit–Explicit Followership Congruence on Benevolent Leadership: Evidence from Chinese Family Firms

    Science.gov (United States)

    Wang, Xiao; Peng, Jian

    2016-01-01

    Benevolent leadership, a traditional Chinese leadership style generated under the influence of Confucianism, has been under growing discussion since its proposal. However, existing research has focused mainly on the consequences of benevolent leadership, and research probing into its antecedents is scarce. To fill such research gap, the current study aims to explore the effect of the congruence between implicit positive followership prototype (PFP) and explicit positive followership trait (PFT) on benevolent leadership. Polynomial regression combined with the response surface methodology was used to test the hypotheses herein. The results, based on a sample of 241 leader–follower dyads from four Chinese family firms, indicated the following: (1) benevolent leadership is higher when leader PFP is congruent with follower PFT than when they are incongruent; (2) in cases of congruence, benevolent leadership is higher when leader PFP and follower PFT are both high rather than low; (3) in the case of incongruence, there is no significant difference for the level of benevolent leadership in two scenarios: “low leader PFP – high follower PFT” and “high leader PFP – low follower PFT”. PMID:27375514

  18. Parent Engagement in Youth Drug Prevention in Chinese Families: Advancement in Program Development and Evaluation

    Directory of Open Access Journals (Sweden)

    Sandra K. M. Tsang

    2011-01-01

    Full Text Available The escalating youth drug abuse problem in Hong Kong has attracted intense attention from the government, schools, and youth service professionals. Most preventive efforts have focused directly on positive youth development, very often through school programs delivered to secondary school students. There have been limited efforts to engage parents even though it is obvious that the family is actually the primary context of children and youth development. This paper will assert the importance of parental engagement in youth drug-prevention work, discuss some barriers in such parental involvement, present some promising local attempts and their strengths and limitations, and propose that sustained efforts are needed to build up theory-driven and evidence-based resources for Chinese communities on the subject.

  19. Reputation,Accounting Information and Debt Contracts in Chinese Family Firms

    Institute of Scientific and Technical Information of China (English)

    Hao Li

    2010-01-01

    This paper provides evidence to show that in the presence of imperfect formal institutions there is both a substitutional and a complementary relationship between accounting information and reputation, an informal institution. Empirical results using a sample of family firms listed in the Chinese A-share stock market from 2004 to 2007 show that in China, where the legal environment is far from perfect, the complementary relationship between reputation and accounting information is more pronounced than is the substitutional relationship. Thus, the aggregate effect is that a better reputation improves the usefulness of accounting information in debt contracts. Besides the aggregate effect, this paper also provides evidence of the substitutional and complementary relationships between reputation and accounting separately.

  20. Father involvement: Identifying and predicting family members' shared and unique perceptions.

    Science.gov (United States)

    Dyer, W Justin; Day, Randal D; Harper, James M

    2014-08-01

    Father involvement research has typically not recognized that reports of involvement contain at least two components: 1 reflecting a view of father involvement that is broadly recognized in the family, and another reflecting each reporter's unique perceptions. Using a longitudinal sample of 302 families, this study provides a first examination of shared and unique views of father involvement (engagement and warmth) from the perspectives of fathers, children, and mothers. This study also identifies influences on these shared and unique perspectives. Father involvement reports were obtained when the child was 12 and 14 years old. Mother reports overlapped more with the shared view than father or child reports. This suggests the mother's view may be more in line with broadly recognized father involvement. Regarding antecedents, for fathers' unique view, a compensatory model partially explains results; that is, negative aspects of family life were positively associated with fathers' unique view. Children's unique view of engagement may partially reflect a sentiment override with father antisocial behaviors being predictive. Mothers' unique view of engagement was predicted by father and mother work hours and her unique view of warmth was predicted by depression and maternal gatekeeping. Taken, together finding suggests a far more nuanced view of father involvement should be considered.

  1. Intergenerational Transmission of Educational Attitudes in Chinese American Families: Interplay of Socioeconomic Status and Acculturation

    Science.gov (United States)

    Shen, Yishan; Kim, Su Yeong; Wang, Yijie

    2016-01-01

    This longitudinal study examined the influence of parents' educational attitudes on adolescents' educational attitudes and identified antecedents (i.e., parent education, family income, and parent acculturation), consequences (i.e., academic achievement and engagement), and a potential moderator (i.e., adolescent acculturation) of the transmission…

  2. Evaluation of four commonly used DNA barcoding Loci for chinese medicinal plants of the family schisandraceae.

    Directory of Open Access Journals (Sweden)

    Jian Zhang

    Full Text Available Many species of Schisandraceae are used in traditional Chinese medicine and are faced with contamination and substitution risks due to inaccurate identification. Here, we investigated the discriminatory power of four commonly used DNA barcoding loci (ITS, trnH-psbA, matK, and rbcL and corresponding multi-locus combinations for 135 individuals from 33 species of Schisandraceae, using distance-, tree-, similarity-, and character-based methods, at both the family level and the genus level. Our results showed that the two spacer regions (ITS and trnH-psbA possess higher species-resolving power than the two coding regions (matK and rbcL. The degree of species resolution increased with most of the multi-locus combinations. Furthermore, our results implied that the best DNA barcode for the species discrimination at the family level might not always be the most suitable one at the genus level. Here we propose the combination of ITS+trnH-psbA+matK+rbcL as the most ideal DNA barcode for discriminating the medicinal plants of Schisandra and Kadsura, and the combination of ITS+trnH-psbA as the most suitable barcode for Illicium species. In addition, the closely related species Schisandra rubriflora Rehder & E. H. Wilson and Schisandra grandiflora Hook.f. & Thomson, were paraphyletic with each other on phylogenetic trees, suggesting that they should not be distinct species. Furthermore, the samples of these two species from the southern Hengduan Mountains region formed a distinct cluster that was separated from the samples of other regions, implying the presence of cryptic diversity. The feasibility of DNA barcodes for identification of geographical authenticity was also verified here. The database and paradigm that we provide in this study could be used as reference for the authentication of traditional Chinese medicinal plants utilizing DNA barcoding.

  3. Clinical Characteristics, Radiological Features and Gene Mutation in 10 Chinese Families with Spinocerebellar Ataxias

    Institute of Scientific and Technical Information of China (English)

    Jian-Wen Chen; Li Zhao; Feng Zhang; Lan Li; Yu-Hang Gu; Jing-Yuan Zhou; Hui Zhang

    2015-01-01

    Background:Spinocerebellar ataxias (SCAs) are a group ofneurodegenerative disorders that primarily cause the degeneration in the cerebellum,spinal cord,and brainstem.We study the clinical characteristics,radiological features and gene mutation in Chinese families with SCAs.Methods:In this study,we investigated 10 SCAs Chinese families with SCA1,SCA3/Machado-Joseph disease (MJD),SCA7,SCAB.There were 27 people who were genetically diagnosed as SCA,of which 21 people showed clinical symptoms,and 6 people had no clinical phenotype that we called them presymptomatic patients.In addition,3 people with cerebellar ataxia and cataracts were diagnosed according to the Harding diagnostic criteria but failed to be recognized as SCAs on genetic testing.Clinical characteristic analyses of each type of SCAs and radiological examinations were performed.Results:We found that SCA3/MJD was the most common subtype in Han population in China,and the ratio of the pontine tegmentum and the posterior fossa area was negatively correlated with the number of cytosine-adenine-guanine (CAG) repeats;the disease duration was positively correlated with the International Cooperative Ataxia Rating Scale score;and the CAG repeats number of abnormal alleles was negatively correlated with the age of onset.Conclusions:Collectively our study is a systematic research on SCAs in China,which may help for the clinical diagnosis and prenatal screening of this disease,and it may also aid toward better understanding of this disease.

  4. Leber's hereditary optic neuropathy is associated with the mitochondrial ND4 G11696A mutation in five Chinese families

    International Nuclear Information System (INIS)

    We report here the clinical, genetic, and molecular characterization of five Chinese families with Leber's hereditary optic neuropathy (LHON). Clinical and genetic evaluations revealed the variable severity and age-of-onset in visual impairment in these families. Strikingly, there were extremely low penetrances of visual impairment in these Chinese families. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the distinct sets of mtDNA polymorphism, in addition to the identical ND4 G11696A mutation associated with LHON. Indeed, this mutation is present in homoplasmy only in the maternal lineage of those pedigrees but not other members of these families. In fact, the occurrence of the G11696A mutation in these several genetically unrelated subjects affected by visual impairment strongly indicates that this mutation is involved in the pathogenesis of visual impairment. Furthermore, the N405D in the ND5 and G5820A in the tRNACys, showing high evolutional conservation, may contribute to the phenotypic expression of G11696A mutation in the WZ10 pedigree. However, there was the absence of functionally significant mtDNA mutations in other four Chinese pedigrees carrying the G11696A mutation. Therefore, nuclear modifier gene(s) or environmental factor(s) may play a role in the phenotypic expression of the LHON-associated G11696A mutation in these Chinese pedigrees

  5. Non-syndromic hereditary gingival fibromatosis in three Chinese families is not due to SOS1 gene mutations.

    Science.gov (United States)

    Ma, Yanyan; Sun, Zheng; Hu, Ying; Liu, Yi; Jin, Lingling; Zhang, Fenqiu

    2014-12-01

    Non-syndromic hereditary gingival fibromatosis (HGF) is a rare condition, characterized by a progressive gingival hyperplasia that occurs as an isolated disease. Hitherto, only one insertion (g.126,142-126,143insC) in son-of-sevenless-1 (SOS1) gene has been associated with non-syndromic HGF in a Brazilian family. The aim of the present study was to determine if SOS1 is the causative gene of non-syndromic HGF in the Chinese population. Peripheral blood samples were collected from six affected and seven unaffected individuals from three Chinese families with history of non-syndromic HGF. Genomic DNA was extracted and SOS1 gene exons were sequenced. Neither g.126,142-126,143insC nor any other novel mutation was detected in SOS1 gene. Our results suggest that the SOS1 may not be the gene responsible for HGF in these three Chinese families and, therefore, it is possible that other genes are involved in the manifestation of HGF in these Chinese HGF families.

  6. Economic Disadvantage, Perceived Family Life Quality, and Emotional Well-Being in Chinese Adolescents: A Longitudinal Study

    Science.gov (United States)

    Shek, Daniel T. L.

    2008-01-01

    Over three consecutive years, Chinese secondary school students experiencing and not experiencing economic disadvantage (n = 280 and 2,187, respectively) responded to measures of perceived family life quality (parenting attributes and parent-child relational quality) and emotional well-being (hopelessness, mastery, life satisfaction and…

  7. Sequencing and molecular modeling identifies candidate members of Caliciviridae family in bats.

    Science.gov (United States)

    Kemenesi, Gábor; Gellért, Ákos; Dallos, Bianka; Görföl, Tamás; Boldogh, Sándor; Estók, Péter; Marton, Szilvia; Oldal, Miklós; Martella, Vito; Bányai, Krisztián; Jakab, Ferenc

    2016-07-01

    Emerging viral diseases represent an ongoing challenge for globalized world and bats constitute an immense, partially explored, reservoir of potentially zoonotic viruses. Caliciviruses are important human and animal pathogens and, as observed for human noroviruses, they may impact on human health on a global scale. By screening fecal samples of bats in Hungary, calicivirus RNA was identified in the samples of Myotis daubentonii and Eptesicus serotinus bats. In order to characterize more in detail the bat caliciviruses, large portions of the genome sequence of the viruses were determined. Phylogenetic analyses and molecular modeling identified firmly the two viruses as candidate members within the Caliciviridae family, with one calicivirus strain resembling members of the Sapovirus genus and the other bat calicivirus being more related to porcine caliciviruses of the proposed genus Valovirus. This data serves the effort for detecting reservoir hosts for potential emerging viruses and recognize important evolutionary relationships. PMID:27085289

  8. Familial risks and estrogen receptor-positive breast cancer in Hong Kong Chinese women.

    Directory of Open Access Journals (Sweden)

    Lap Ah Tse

    Full Text Available The role of family history to the risk of breast cancer was analyzed by incorporating menopausal status in Hong Kong Chinese women, with a particular respect to the estrogen receptor-positive (ER+ type.Seven hundred and forty seven breast cancer incident cases and 781 hospital controls who had completed information on family cancer history in first-degree relatives (nature father, mother, and siblings were recruited. Odds ratio for breast cancer were calculated by unconditional multiple logistic regression, stratified by menopausal status (a surrogate of endogenous female sex hormone level and age and type of relative affected with the disease. Further subgroup analysis by tumor type according to ER status was investigated.Altogether 52 (6.96% breast cancer cases and 23 (2.95% controls was found that the patients' one or more first-degree relatives had a history of breast cancer, showing an adjusted odds ratio (OR of 2.41 (95%CI: 1.45-4.02. An excess risk of breast cancer was restricted to the ER+ tumor (OR = 2.43, 95% CI: 1.38-4.28, with a relatively higher risk associated with an affected mother (OR = 3.97, 95%CI: 1.46-10.79 than an affected sister (OR = 2.06, 95%CI: 1.07-3.97, while the relative risk was more prominent in the subgroup of pre-menopausal women. Compared with the breast cancer overall, the familial risks to the ER+ tumor increased progressively with the number of affected first-degree relatives.This study provides new insights on a relationship between family breast cancer history, menopausal status, and the ER+ breast cancer. A separate risk prediction model for ER+ tumor in Asian population is desired.

  9. Exome analysis of two limb-girdle muscular dystrophy families: mutations identified and challenges encountered.

    Directory of Open Access Journals (Sweden)

    Kristin K McDonald

    Full Text Available The molecular diagnosis of muscle disorders is challenging: genetic heterogeneity (>100 causal genes for skeletal and cardiac muscle disease precludes exhaustive clinical testing, prioritizing sequencing of specific genes is difficult due to the similarity of clinical presentation, and the number of variants returned through exome sequencing can make the identification of the disease-causing variant difficult. We have filtered variants found through exome sequencing by prioritizing variants in genes known to be involved in muscle disease while examining the quality and depth of coverage of those genes. We ascertained two families with autosomal dominant limb-girdle muscular dystrophy of unknown etiology. To identify the causal mutations in these families, we performed exome sequencing on five affected individuals using the Agilent SureSelect Human All Exon 50 Mb kit and the Illumina HiSeq 2000 (2×100 bp. We identified causative mutations in desmin (IVS3+3A>G and filamin C (p.W2710X, and augmented the phenotype data for individuals with muscular dystrophy due to these mutations. We also discuss challenges encountered due to depth of coverage variability at specific sites and the annotation of a functionally proven splice site variant as an intronic variant.

  10. Novel mutations in FZD4 and phenotype–genotype correlation in Chinese patients with familial exudative vitreoretinopathy

    Science.gov (United States)

    Tang, Miao; Ding, Xiaoyan; Li, Jiaqing; Hu, Andina; Yuan, Miner; Yang, Yu; Zhan, Zongyi; Li, Zijing

    2016-01-01

    Purpose To identify novel mutations in the frizzled 4 (FZD4) gene in patients with familial exudative vitreoretinopathy (FEVR) in southern China and to delineate the mutation-associated clinical manifestations. Methods Clinical data and genomic DNA were collected from 100 probands and their family members. The coding regions of FZD4 were screened for mutations with PCR and Sanger sequencing. Cosegregation analysis was used to verify suspected variants, and clinical symptoms in the probands were analyzed. Results Fourteen causative heterozygous mutations in FZD4 in 21 unrelated probands were noted, in 21.0% of the index patients (21/100). Four novel missense mutations (C45R, C45S, C53S, and C90R) and three novel deletion mutations (T326fsX356, G492fsX512, and S345_A351del) with a high possibility of pathogenicity were detected. None of these mutations were found in current online databases and 150 ethnically matched control subjects without retinopathy. The majority of the mutations in FZD4 were identified in probands with retinal folds (15/21) and ectopic macula (5/21). No mutations in FZD4 were found in probands with complete tractional retinal detachment in infancy or with mild asymptomatic FEVR in adulthood. Conclusions Seven novel mutations found in this study have broadened the spectrum of mutations in FZD4 known to cause FEVR, providing a deeper understanding of this disease. The results show that mutations in FZD4 are associated with the phenotypes of retinal folds or ectopic macula in FEVR but might not be associated with extreme severe bilateral FEVR during infancy, at least in southern Chinese patients. PMID:27555740

  11. Second-hand smoke exposure and household smoking bans in Chinese families: a qualitative study.

    Science.gov (United States)

    Abdullah, Abu S; Hua, Fu; Xia, Xiao; Hurlburt, Sarah; Ng, Patrick; MacLeod, William; Siegel, Michael; Griffiths, Sian; Zhang, Zhiyong

    2012-07-01

    As workplace smoking restrictions spread, smoking in the home is becoming the predominant source of exposure to second-hand smoke (SHS) among children and other non-smokers in the household. This study explored issues around children's exposure to SHS. Focus group discussions (FGDs) and in-depth interviews (IDI) were conducted among 31 Chinese households in urban Shanghai, China. All FGDs/IDIs were audio recorded and analysed thematically. The findings suggest that there are gaps in knowledge of the health consequences of smoking and SHS among the participants. Although there was a lack of knowledge about the health risk of exposure to SHS, most were willing to protect their child from the SHS exposure. In 16/31 households, families had partial home-smoking restrictions; there were no complete restrictions in any of the smokers' homes. Many families do not openly discuss smoking or smoking restrictions at home. Barriers to adopting a smoke-free home included the social acceptability of smoking (22/31), hosting social gatherings at home, which would involve smoking (12/31), authoritative attitudes of the husband or father-in-law (10/31), and difficulties with visitors who smoke (7/31). Most (28/31) participants stated they would accept a counselling intervention to reduce SHS exposure to children and suggested various measures to implement it. The findings from this intervention have implications for designing intervention strategies to reduce SHS exposure at home among children in China.

  12. Clinical and genetic study of a Chinese family with spinocerebellar ataxia type 7

    Directory of Open Access Journals (Sweden)

    Han Yan

    2010-01-01

    Full Text Available Spinocerebellar ataxia 7 (SCA7 is a rare disease, and only few SCA7 families have been reported, especially from East Asia. Clinical features of a genetically confirmed SCA7 Chinese family were evaluated. The onset of the disease varied from 4 years to 48 years, and the initial presenting feature was cerebellar ataxia or visual impairment, or both. There were abnormal findings on fundus photography, electroretinogram, flash visual evoked potential and oscillatory potentials. Abnormal mitochondria were also found in skeletal muscle or liver biopsies. The number of cytosine adenine guanine (CAG repeats ranged from 50 to 97, and the length of CAG repeat was inversely correlated with the age of onset (r=-0.867, P=0.025. Conclusion: The clinical manifestations and SCA7 gene of SCA7 patients were homogeneous in this study. Larger CAG repeats had not only resulted in earlier onset, but also related to the rapid progression and severity of the disease. Abnormal mitochondria may be a common finding in biopsy studies of various organs in SCA7 patients.

  13. Leber's hereditary optic neuropathy caused by the homoplasmic ND1 m.3635G>A mutation in nine Han Chinese families.

    Science.gov (United States)

    Zhang, Juanjuan; Jiang, Pingping; Jin, Xiaofen; Liu, Xiaoling; Zhang, Minglian; Xie, Shipeng; Gao, Min; Zhang, Sai; Sun, Yan-Hong; Zhu, Jinping; Ji, Yanchun; Wei, Qi-Ping; Tong, Yi; Guan, Min-Xin

    2014-09-01

    In this report, we investigated the molecular mechanism underlying Leber's hereditary optic neuropathy (LHON)-associated mitochondrial m.3635G>A (p.S110N, ND1) mutation. A mutational screening of ND1 gene in a cohort of 1070 Han Chinese subjects LHON identified the m.3635G>A mutation in nine Chinese families with suggestively maternally transmitted LHON. Thirty-eight (22 males/16 females) of 162 matrilineal relatives in these families exhibited the variable severity and age-at-onset of optic neuropathy. Molecular analysis of their mitochondrial genomes identified the homoplasmic m.3635G>A mutation and distinct sets of polymorphisms belonging to the Asian haplogroups G2a1, R11a, D4, R11a, M7b2, G1a, F1a1, B4, and N9a3, respectively. Using cybrids constructed by transferring mitochondria from lymphoblastoid cell lines derived from one Chinese family into mtDNA-less (ρ(0)) cells, we showed ~27% decrease in the activity of NADH:ubiquinone oxidoreductase (complex I) in mutant cybrids carrying the m.3635G>A mutation, compared with control cybrids. The respiratory deficiency caused by the m.3635G>A mutation results in decreased efficiency of mitochondrial ATP synthesis. These mitochondrial dysfunctions caused an increase in the production of reactive oxygen species in the mutant cybrids. The data provide the direct evidence for the m.3635G>A mutation leading to LHON. Our findings may provide new insights into the understanding of pathophysiology of LHON.

  14. A Chinese girl with cystic fibrosis: a case report identified by sweat and genetic tests

    Institute of Scientific and Technical Information of China (English)

    CHENG Yan; NING Gang; SONG Bin; GUO Ying-kun; LI Xue-sheng

    2012-01-01

    To the Editor:Cystic fibrosis (CF) is quite rare in the Asian population that an epidemiological study in the Japanese population revealed the incidence of CF being about 1 in 350000.1Wright and Morton2 estimated that the incidence of CF in the Asiatic races was about 1 in 90000 infants in Hawaii.Here we report a Chinese girl with CF,who was diagnosed by both sweat chloride and genetic test.

  15. Computational EST database analysis identifies a novel member of the neuropoietic cytokine family.

    Science.gov (United States)

    Shi, Y; Wang, W; Yourey, P A; Gohari, S; Zukauskas, D; Zhang, J; Ruben, S; Alderson, R F

    1999-08-19

    A novel member of the neuropoietic cytokine family has been cloned and the protein expressed and characterized. In an effort to identify novel secreted proteins, an algorithm incorporating neural network algorithms was applied to a large EST database. A full-length clone was identified that is 1710 bp in length and has a single open reading frame of 225 amino acids. This new cytokine is most homologous to cardiotrophin-1, having a similarity and an identity of 46 and 29%, respectively, and therefore we have named it cardiotrophin-like cytokine (CLC). Northern hybridization analysis identified a 1.4-kb messenger RNA that is highly expressed in spleen and peripheral leukocytes. Purified recombinant CLC induced the activation of NFkappaB and SRE reporter constructs in the TF-1, U937, and M1 cell lines. Furthermore, the signal transduction pathway for CLC was characterized in the neuroblastoma cell line SK-N-MC and found to involve tyrosine phosphorylation of gp130 and STAT-1. PMID:10448081

  16. PS1-08: Genetic Service Providers Identify Barriers Related to Referral, Counseling and Testing for Familial Cancer

    OpenAIRE

    Jackson, Jody; Rolnick, Cheri; Rahm, Alanna; Nekhlyudov, Larissa; Goddard, Katrina; Field, Terry; McCarty, Catherine; Nakasato, Cynthia; ROBLIN, DOUGLAS; Anderson, Christopher; Valdez, Rodolfo

    2010-01-01

    Background and Aims: Little of what we know about the use of family history and genetic risk assessment services has been gathered from those engaged in counseling. To fill this gap, we conducted a survey to understand the processes of identifying and referring high-risk patients for genetic counseling and testing for familial cancer from the perspective of genetic service providers.

  17. The impact of family intactness on family functioning, parental control and parent-child relational qualities in a Chinese context

    Directory of Open Access Journals (Sweden)

    Daniel Tan Lei Shek

    2015-01-01

    Full Text Available The current study investigated the differences between intact and non-intact families in family processes, including systematic family functioning, parental behavioral control, parental psychological control, and parent-child relational qualities. The participants were 3,328 Secondary One students, with a mean age of 12.59 years, recruited from 28 secondary schools in Hong Kong. Four validated scales were used to assess family processes. Results showed that adolescents in non-intact families perceived relatively poorer family functioning, lower level of paternal and maternal behavioral control, lower level of paternal psychological control and poorer parent-child relational qualities than did adolescents in intact families. This generally indicated that family processes were poorer in non-intact families, compared with those in intact families. The theoretical and practical implications of the findings were discussed.

  18. A Microdeletion of Chromosome 9q33.3 Encompasses the Entire LMX1B Gene in a Chinese Family with Nail Patella Syndrome

    Science.gov (United States)

    Jiang, Shujuan; Zhang, Jiubin; Huang, Dan; Zhang, Yuanyuan; Liu, Xiaoliang; Wang, Yinzhao; He, Rong; Zhao, Yanyan

    2014-01-01

    Nail patella syndrome (NPS) is an autosomal dominant disorder characterized by nail malformations, patellar apoplasia, or patellar hypoplasia. Mutations within the LMX1B gene are found in 85% of families with NPS; thus, this gene has been characterized as the causative gene of NPS. In this study, we identified a heterozygous microdeletion of the entire LMX1B gene using multiplex ligation-dependent probe amplification (MLPA) in a Chinese family with NPS. The determination of the deletion breakpoints by Illumina genome-wide DNA analysis beadchip showed that the deletion was located in chromosome 9q33.3 and spanned about 0.66 Mb in size. This heterozygous deletion provides strong evidence for haploinsufficiency as the pathogenic mechanism of NPS. PMID:25380522

  19. A Microdeletion of Chromosome 9q33.3 Encompasses the Entire LMX1B Gene in a Chinese Family with Nail Patella Syndrome

    Directory of Open Access Journals (Sweden)

    Shujuan Jiang

    2014-11-01

    Full Text Available Nail patella syndrome (NPS is an autosomal dominant disorder characterized by nail malformations, patellar apoplasia, or patellar hypoplasia. Mutations within the LMX1B gene are found in 85% of families with NPS; thus, this gene has been characterized as the causative gene of NPS. In this study, we identified a heterozygous microdeletion of the entire LMX1B gene using multiplex ligation-dependent probe amplification (MLPA in a Chinese family with NPS. The determination of the deletion breakpoints by Illumina genome-wide DNA analysis beadchip showed that the deletion was located in chromosome 9q33.3 and spanned about 0.66 Mb in size. This heterozygous deletion provides strong evidence for haploinsufficiency as the pathogenic mechanism of NPS.

  20. A novel sister clade to the enterobacteria microviruses (family Microviridae) identified in methane seep sediments.

    Science.gov (United States)

    Bryson, Samuel Joseph; Thurber, Andrew R; Correa, Adrienne M S; Orphan, Victoria J; Vega Thurber, Rebecca

    2015-10-01

    Methane seep microbial communities perform a key ecosystem service by consuming the greenhouse gas methane prior to its release into the hydrosphere, minimizing the impact of marine methane sources on our climate. Although previous studies have examined the ecology and biochemistry of these communities, none has examined viral assemblages associated with these habitats. We employed virus particle purification, genome amplification, pyrosequencing and gene/genome reconstruction and annotation on two metagenomic libraries, one prepared for ssDNA and the other for all DNA, to identify the viral community in a methane seep. Similarity analysis of these libraries (raw and assembled) revealed a community dominated by phages, with a significant proportion of similarities to the Microviridae family of ssDNA phages. We define these viruses as the Eel River Basin Microviridae (ERBM). Assembly and comparison of 21 ERBM closed circular genomes identified five as members of a novel sister clade to the Microvirus genus of Enterobacteria phages. Comparisons among other metagenomes and these Microviridae major-capsid sequences indicated that this clade of phages is currently unique to the Eel River Basin sediments. Given this ERBM clade's relationship to the Microviridae genus Microvirus, we define this sister clade as the candidate genus Pequeñovirus. PMID:25640518

  1. Language Attitudes and Heritage Language Maintenance among Chinese Immigrant Families in the USA

    Science.gov (United States)

    Zhang, Donghui; Slaughter-Defoe, Diana T.

    2009-01-01

    This qualitative study investigates attitudes toward heritage language (HL) maintenance among Chinese immigrant parents and their second-generation children. Specific attention is given to exploring (1) what attitudes are held by the Chinese parents and children toward Chinese language maintenance in the USA, (2) what efforts are engaged in by the…

  2. Blood DNA methylation markers in potentially identified Chinese patients with hepatocellular carcinoma.

    Science.gov (United States)

    Liu, Zongying; Yan, Haixiu; Zhang, Jinshu

    2016-07-01

    To determine whether blood DNA methylation is associated with hepatocellular carcinoma (HCC) for Chinese patients, we used genome-wide DNA methylation detection to access the blood samples of Chinese patients by Illumina Human methylation 450K arrays. Sixty potentially gene locis which had different methylated levels significantly among tumor and adjacent normal tissues would be tested in this study. A previous study was conducted in China communities and followed with 7 years. The DNA from white blood cells (WBC) from 192 patients with HCC and 215 matched controls were assayed in this study. The χ2 test was used to measure data to categorize variables and t -test was used to evaluate the different characteristics among groups. Besides, odds ratios (OR) and 95%CI was calculated for matching factors by conditional logistic regression models. We found that high methylation in WNK2 was related to increased risk of HCC, and high methylation in TPO were related to decreased risk of HCC. In our multivariable conditional logistic regression models, these results all exist. Those findings support the methylated changes of WNK2 and TPO may become a new detection index for HCC patients in clinical laboratory. However, the results should be replicated in additional prospective studies with lager samples. PMID:27592479

  3. Identifying genetic risk variants for coronary heart disease in familial hypercholesterolemia: an extreme genetics approach

    Science.gov (United States)

    Versmissen, Jorie; Oosterveer, Daniëlla M; Yazdanpanah, Mojgan; Dehghan, Abbas; Hólm, Hilma; Erdman, Jeanette; Aulchenko, Yurii S; Thorleifsson, Gudmar; Schunkert, Heribert; Huijgen, Roeland; Vongpromek, Ranitha; Uitterlinden, André G; Defesche, Joep C; van Duijn, Cornelia M; Mulder, Monique; Dadd, Tony; Karlsson, Hróbjartur D; Ordovas, Jose; Kindt, Iris; Jarman, Amelia; Hofman, Albert; van Vark-van der Zee, Leonie; Blommesteijn-Touw, Adriana C; Kwekkeboom, Jaap; Liem, Anho H; van der Ouderaa, Frans J; Calandra, Sebastiano; Bertolini, Stefano; Averna, Maurizio; Langslet, Gisle; Ose, Leiv; Ros, Emilio; Almagro, Fátima; de Leeuw, Peter W; Civeira, Fernando; Masana, Luis; Pintó, Xavier; Simoons, Maarten L; Schinkel, Arend FL; Green, Martin R; Zwinderman, Aeilko H; Johnson, Keith J; Schaefer, Arne; Neil, Andrew; Witteman, Jacqueline CM; Humphries, Steve E; Kastelein, John JP; Sijbrands, Eric JG

    2015-01-01

    Mutations in the low-density lipoprotein receptor (LDLR) gene cause familial hypercholesterolemia (FH), a disorder characterized by coronary heart disease (CHD) at young age. We aimed to apply an extreme sampling method to enhance the statistical power to identify novel genetic risk variants for CHD in individuals with FH. We selected cases and controls with an extreme contrast in CHD risk from 17 000 FH patients from the Netherlands, whose functional LDLR mutation was unequivocally established. The genome-wide association (GWA) study was performed on 249 very young FH cases with CHD and 217 old FH controls without CHD (above 65 years for males and 70 years of age for females) using the Illumina HumanHap550K chip. In the next stage, two independent samples (one from the Netherlands and one from Italy, Norway, Spain, and the United Kingdom) of FH patients were used as replication samples. In the initial GWA analysis, we identified 29 independent single nucleotide polymorphisms (SNPs) with suggestive associations with premature CHD (P<1 × 10−4). We examined the association of these SNPs with CHD risk in the replication samples. After Bonferroni correction, none of the SNPs either replicated or reached genome-wide significance after combining the discovery and replication samples. Therefore, we conclude that the genetics of CHD risk in FH is complex and even applying an ‘extreme genetics' approach we did not identify new genetic risk variants. Most likely, this method is not as effective in leveraging effect size as anticipated, and may, therefore, not lead to significant gains in statistical power. PMID:24916650

  4. A Rare Coincidence of Sitosterolemia and Familial Mediterranean Fever Identified by Whole Exome Sequencing.

    Science.gov (United States)

    Tada, Hayato; Kawashiri, Masa-Aki; Okada, Hirofumi; Endo, Saori; Toyoshima, Yuka; Konno, Tetsuo; Nohara, Atsushi; Inazu, Akihiro; Takao, Akira; Mabuchi, Hiroshi; Yamagishi, Masakazu; Hayashi, Kenshi

    2016-07-01

    Whole exome sequencing (WES) technologies have accelerated genetic studies of Mendelian disorders, yielding approximately 30% diagnostic success. We encountered a 13-year-old Japanese female initially diagnosed with familial hypercholesterolemia on the basis of clinical manifestations of severe hypercholesterolemia (initial LDL cholesterol=609 mg/dl at the age of one) and systemic intertriginous xanthomas with histories of recurrent self-limiting episodes of fever and arthritis. Both her phenotypes seemed to co-segregate in a recessive manner. We performed WES on this patient, who was considered a proband. Among 206,430 variants found in this individual, we found 18,220 nonsense, missense, or splice site variants, of which 3,087 were rare (minor allele frequency ≤ 0.01 or not reported) in 1000 Genome (Asian population). Filtering by assuming a recessive pattern of inheritance with the use of an in silico annotation prediction tool, we successfully narrowed down the candidates to the compound heterozygous mutations in the ABCG5 gene (c.1256G>A or p.Arg419His/c.1763-1G>A [splice acceptor site]) and to the double-compound heterozygous mutations in the MEFV gene (c.329T>C/C or p.Leu110Pro/c.442G>C/C or p.Glu148Val). The patient was genetically diagnosed with sitosterolemia and familial Mediterranean fever using WES for the first time. Such a comprehensive approach is useful for identifying causative mutations for multiple unrelated inheritable diseases. PMID:27170062

  5. Protecting Young Children: Identifying Family Substance Use and Risks in the Home

    Science.gov (United States)

    Conners-Burrow, Nicola A.; Johnson, Danya; Whiteside-Mansell, Leanne; McKelvey, Lorraine; Bokony, Patti A.; Bradley, Robert H.

    2010-01-01

    This study examines the usefulness of a screening process implemented in the context of a Head Start home visit and compares families who screened positive for substance abuse with those who did not on an array of child and family indicators important for healthy child development. The sample included 1,105 low-income families with preschool-age…

  6. [Mitochondrial genome analysis in the probands of six Chinese families with MELAS].

    Science.gov (United States)

    Liu, Li; Yuquan, Shao; Baorong, Zhang; Pingping, Jiang; Ailian, Du; Minxin, Guan

    2014-11-01

    Mitochondrial encephalomyopathy, lactic acidosis and stroke-like episodes (MELAS) is a genetically heterogeneous disorder. The most prevalent mitochondrial DNA (mtDNA) mutation associated with MELAS is the m.3243A>G transition in the mitochondrial tRNA(Leu(UUR)) gene. Here, we report the clinical, genetic and molecular characterization of six probands from Han Chinese families with MELAS. Four of six probands carried the heteroplasmic m.3243A>G mutation. The levels of mutation load ranged from 29% to 59%, which were correlated with the severity of the clinical phenotypes. Two probands with MELAS/Leigh overlap were 3243 A>G negative, whose severity and relapse were greater than the other 4 probands. One proband with MELAS/Leigh harbored the known ND5 m.13094T>C mutation, which is related to MELAS/Leigh overlap and cerebella ataxia. Sequence analysis of entire mtDNA showed the distinct sets of variants including some variants that may be associated with diabetes, hearing loss, seizures, cardiomyopathy, and Leigh syndrome. Our data suggested that the phenotype and severity of MELAS mainly depend on the mutation load, and some variants may partially contribute to the phenotype and diversity. Our finding also highlighted the complexity of the relationship between genotype and phenotype in MELAS.

  7. Association of ALOX15 gene polymorphisms with obesity-related phenotypes in Chinese nuclear families with male offspring

    Institute of Scientific and Technical Information of China (English)

    Yao-hua KE; Chun WANG; Yun-qiu HU; Miao LI; Yu-juan LIU; Wen-zhen FU; Zhen-lin ZHANG; Wen-jin XIAO; Jin-wei HE; Hao ZHANG; Jin-bo YU; Wei-wei HU; Jie-mei GU; Gao GAO; Hua YUE

    2012-01-01

    Aim:Genetic variation in ALOX12,which encoded human 12-lipoxygenase,was found to be associated with fat mass in young Chinese men.The objective of this study was to investigate the relationship between single nucleotide polymorphisms (SNPs) and haplotypes in the ALOX15 gene and obesity-related phenotypes in Chinese nuclear families with male offspring.Methods:We recruited 1,296 subjects from 427 nuclear families with male offspring and genotyped five SNPs (rs9894225,rs748694,rs2619112,rs2619118,and rs916055) in the ALOX15 gene locus.The total fat mass (TFM),trunk fat mass (tFM),leg fat mass (LFM) and arm fat mass (AFM) were measured using dual-energy X-ray absorptiometry (DXA).The percentage of fat mass (PFM) was the ratio of TFM and body weight.The association between SNPs and haplotypes of ALOX15 and obesity-related phenotypic variation was measured using quantitative transmission disequilibrium test (QTDT).Results:Using QTDT to measure family-based genetic association,we found that rs916055 had a statistically significant association with PFM (P=0.038),whereas rs916055 had a marginal but statistically insignificant association with tFM (P=0.093).The multipleparameter 1000 permutations test agreed with the family-based association results:both showed that rs916055 had a statistically significant association with PFM (P=0.033).Conclusion:rs916055 in ALOX15 gene was significantly associated with the percentage of fat mass in Chinese nuclear families with male offspring in the family-based association study using QTDT approach.

  8. Brief Report: Family cancer history affecting risk of colorectal cancer in a prospective cohort of Chinese women

    OpenAIRE

    Murphy, Gwen; Shu, Xiao Ou; Gao, Yu-Tang; Ji, Bu-Tian; Cook, Michael Blaise; YANG, Gong; Li, Hong-Lan; Rothman, Nathaniel; Zheng, Wei; Chow, Wong-Ho

    2009-01-01

    An elevated risk of colorectal cancer has been associated with sporadic colorectal cancer in first degree relatives, mostly in Western populations. Limited data exists from traditionally low-risk areas, such as Asia, where the prevalence of risk factors may differ. We examined the association of family history of cancer and subsequent colorectal cancer risk in a cohort of traditionally low-risk Chinese women.

  9. Factors Associated with Parent-Child (Dis)Agreement on Child Behavior and Parenting Problems in Chinese Immigrant Families

    Science.gov (United States)

    Fung, Joey J.; Lau, Anna S.

    2010-01-01

    We examined familial and cultural factors predicting parent-child (dis)agreement on child behavior and parenting problems. Immigrant Chinese parents (89.7% mothers; M age = 44.24 years) and their children (62 boys; 57.9%) between the ages of 9 and 17 years (M = 11.9 years, SD = 2.9) completed measures of parent punitive behavior and child…

  10. Clinical features andMUT gene mutation spectrum in Chinese patients with isolated methylmalonic acidemia:identifi cation of ten novel allelic variants

    Institute of Scientific and Technical Information of China (English)

    Lian-Shu Han; Zhuo Huang; Feng Han; Jun Ye; Wen-Juan Qiu; Hui-Wen Zhang; Yu Wang; Zhu-Wen Gong; Xue-Fan Gu

    2015-01-01

    Background: This study aims to studyMUT gene mutation spectrum in Chinese patients with isolated methylmalonic academia (MMA) and their clinical features for the potential genotype-phenotype correlation. Methods: Forty-three patients were diagnosed with isolated MMA by elevated blood propionylcarnitine, propionylcarnitine to acetylcarnitine ratio, and urine methylmalonate without hyperhomocysteinemia. The MUT gene was amplifi ed by polymerase chain reaction and directly sequenced. Those patients with at least one variant allele were included. The novel missense mutations were assessed by bioinformatic analysis and screened against alleles sequenced from 50 control participants. Results: Among the 43 patients, 38 had typical clinical presentations, and the majority (30/38) experienced early-onset MMA. Eight patients died and seven were lost to follow-up. Twenty patients had poor outcomes and eight showed normal development. The 43 identifi edMUT gene mutations had at least one variant allele, whereas 35 had two mutant alleles. Of the 33 mutations reported before, eight recurrent mutations were identified in 32 patients, and c.729_730insTT (p.D244Lfs*39) was the most common (12/78) in the mutant alleles. Of the 10 novel mutations, six were missense mutations and four were premature termination codon mutations. The six novel missense mutations seemed to be pathogenic. Conclusions: A total of 10 novelMUT mutations were detected in the Chinese population. c.729_730insTT (p.D244Lfs*39) was the most frequent mutation. A genotype-phenotype correlation could not be found, but the genotypic characterization indicated the need of genetic counseling for MMA patients and early prenatal diagnoses for high-risk families.

  11. Family economic hardship and Chinese adolescents' sleep quality: A moderated mediation model involving perceived economic discrimination and coping strategy.

    Science.gov (United States)

    Bao, Zhenzhou; Chen, Chuansheng; Zhang, Wei; Zhu, Jianjun; Jiang, Yanping; Lai, Xuefen

    2016-07-01

    The association between family economic hardship and adolescent adjustment outcomes, including sleep quality, is well-established. Few studies, however, have examined the mediating and moderating mechanisms underlying the relation between family economic hardship and adolescents' sleep quality. The aim of this study was to investigate the effect of family economic hardship on Chinese adolescents' sleep quality, as well as the role of perceived economic discrimination as a mediator and the role of coping strategy as a moderator. Survey data from a cross-sectional sample of 997 Chinese adolescents (45% male, mean age = 15.04 years) were analyzed using path analysis in Mplus 7.0. The results of this study indicated that family economic hardship was significantly associated with adolescents' sleep quality. This association was mediated by adolescents' perceived economic discrimination. In addition, adolescents' coping strategy significantly moderated the path from perceived economic discrimination to sleep quality, with the "shift" coping strategy as a protective factor. The present study contributes to our understanding of key mechanisms underlying the association between family economic hardship and adolescent sleep quality and highlights the importance of improving sleep quality for adolescents exposed to economic hardship. PMID:27232103

  12. Use of targeted exome sequencing in genetic diagnosis of Chinese familial hypercholesterolemia.

    Directory of Open Access Journals (Sweden)

    Wen-Feng Wu

    Full Text Available Familial hypercholesterolemia is an autosomal dominant inherited disease characterized by elevated plasma low-density lipoprotein cholesterol (LDL-C. It is mainly caused by mutations of the low-density lipoprotein receptor (LDLR gene. Currently, the methods of whole genome sequencing or whole exome sequencing for screening mutations in familial hypercholesterolemia are not applicable in China due to high cost. We performed targeted exome sequencing of 167 genes implicated in the homozygous phenotype of a proband pedigree to identify candidate mutations, validated them in the family of the proband, studied the functions of the mutant protein, and followed up serum lipid levels after treatment. We discovered that exon 9 c.1268 T>C and exon 8 c.1129 T>G compound heterozygous mutations in the LDLR gene in the proband derived from the mother and father, respectively, in which the mutation of c.1129 T>G has not been reported previously. The mutant LDL-R protein had 57% and 52% binding and internalization functions, respectively, compared with that of the wild type. After 6 months of therapy, the LDL-C level of the proband decreased by more than 50% and the LDL-C of the other family members with heterozygous mutation also reduced to normal. Targeted exome sequencing is an effective method for screening mutation genes in familial hypercholesterolemia. The exon 8 and 9 mutations of the LDLR gene were pedigree mutations. The functions of the mutant LDL-R protein were decreased significantly compared with that of the wild type. Simvastatin plus ezetimibe was proven safe and effective in this preschool-age child.

  13. Identifying Family History and Substance Use Associations for Adult Epilepsy from the Electronic Health Record

    Science.gov (United States)

    Wang, Yan; Chen, Elizabeth S.; Leppik, Ilo; Pakhomov, Serguei; Sarkar, Indra Neil; Melton, Genevieve B.

    2016-01-01

    Epilepsy is a prevalent chronic neurological disorder afflicting about 50 million people worldwide. There is evidence of a strong relationship between familial risk factors and epilepsy, as well as associations with substance use. The goal of this study was to explore the interactions between familial risk factors and substance use based on structured data from the family and social history modules of an electronic health record system for adult epilepsy patients. A total of 8,957patients with 38,802 family history entries and 8,822 substance use entries were gathered and mined for associations at different levels of granularity for three age groupings (>18, 18-64, and ≥65 years old). Our results demonstrate the value of an association rule mining approach to validate knowledge of familial risk factors. The preliminary findings also suggest that substance use does not demonstrate significant association between social and familial risk factors for epilepsy. PMID:27570679

  14. Identifying Family History and Substance Use Associations for Adult Epilepsy from the Electronic Health Record.

    Science.gov (United States)

    Wang, Yan; Chen, Elizabeth S; Leppik, Ilo; Pakhomov, Serguei; Sarkar, Indra Neil; Melton, Genevieve B

    2016-01-01

    Epilepsy is a prevalent chronic neurological disorder afflicting about 50 million people worldwide. There is evidence of a strong relationship between familial risk factors and epilepsy, as well as associations with substance use. The goal of this study was to explore the interactions between familial risk factors and substance use based on structured data from the family and social history modules of an electronic health record system for adult epilepsy patients. A total of 8,957patients with 38,802 family history entries and 8,822 substance use entries were gathered and mined for associations at different levels of granularity for three age groupings (>18, 18-64, and ≥65 years old). Our results demonstrate the value of an association rule mining approach to validate knowledge of familial risk factors. The preliminary findings also suggest that substance use does not demonstrate significant association between social and familial risk factors for epilepsy. PMID:27570679

  15. Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family

    OpenAIRE

    Qu, Jia; Li, Ronghua; Zhou, Xiangtian; Tong, Yi; Yang, Li; Chen, Jie; Zhao, Fuxing; Lu, Chunjie; Qian, Yaping; Lu, Fan; Guan, Min-Xin

    2006-01-01

    We report here the characterization of a four-generation Han Chinese family with Leber’s hereditary optic neuropathy (LHON). This Chinese family exhibited a variable severity and age-at-onset of visual loss. Notably, the average age-at-onset of vision impairment changed from 26 years (generation III) to 14 years (generation IV), with the average of 18 years in this family. In addition, 30% and 50% of matrilineal relatives in generation III and IV of this family developed visual loss with a va...

  16. Molecular evolution of rbcL in three gymnosperm families: identifying adaptive and coevolutionary patterns

    LENUS (Irish Health Repository)

    Sen, Lin

    2011-06-03

    Abstract Background The chloroplast-localized ribulose-1, 5-biphosphate carboxylase\\/oxygenase (Rubisco), the primary enzyme responsible for autotrophy, is instrumental in the continual adaptation of plants to variations in the concentrations of CO2. The large subunit (LSU) of Rubisco is encoded by the chloroplast rbcL gene. Although adaptive processes have been previously identified at this gene, characterizing the relationships between the mutational dynamics at the protein level may yield clues on the biological meaning of such adaptive processes. The role of such coevolutionary dynamics in the continual fine-tuning of RbcL remains obscure. Results We used the timescale and phylogenetic analyses to investigate and search for processes of adaptive evolution in rbcL gene in three gymnosperm families, namely Podocarpaceae, Taxaceae and Cephalotaxaceae. To understand the relationships between regions identified as having evolved under adaptive evolution, we performed coevolutionary analyses using the software CAPS. Importantly, adaptive processes were identified at amino acid sites located on the contact regions among the Rubisco subunits and on the interface between Rubisco and its activase. Adaptive amino acid replacements at these regions may have optimized the holoenzyme activity. This hypothesis was pinpointed by evidence originated from our analysis of coevolution that supported the correlated evolution between Rubisco and its activase. Interestingly, the correlated adaptive processes between both these proteins have paralleled the geological variation history of the concentration of atmospheric CO2. Conclusions The gene rbcL has experienced bursts of adaptations in response to the changing concentration of CO2 in the atmosphere. These adaptations have emerged as a result of a continuous dynamic of mutations, many of which may have involved innovation of functional Rubisco features. Analysis of the protein structure and the functional implications of such

  17. Use of Parsimony Analysis to Identify Areas of Endemism of Chinese Birds: Implications for Conservation and Biogeography

    Directory of Open Access Journals (Sweden)

    Xiao-Lei Huang

    2010-05-01

    Full Text Available Parsimony analysis of endemicity (PAE was used to identify areas of endemism (AOEs for Chinese birds at the subregional level. Four AOEs were identified based on a distribution database of 105 endemic species and using 18 avifaunal subregions as the operating geographical units (OGUs. The four AOEs are the Qinghai-Zangnan Subregion, the Southwest Mountainous Subregion, the Hainan Subregion and the Taiwan Subregion. Cladistic analysis of subregions generally supports the division of China’s avifauna into Palaearctic and Oriental realms. Two PAE area trees were produced from two different distribution datasets (year 1976 and 2007. The 1976 topology has four distinct subregional branches; however, the 2007 topology has three distinct branches. Moreover, three Palaearctic subregions in the 1976 tree clustered together with the Oriental subregions in the 2007 tree. Such topological differences may reflect changes in the distribution of bird species through circa three decades.

  18. Only male matrilineal relatives with Leber's hereditary optic neuropathy in a large Chinese family carrying the mitochondrial DNA G11778A mutation

    International Nuclear Information System (INIS)

    We report here the characterization of a five-generation large Chinese family with Leber's hereditary optic neuropathy (LHON). Very strikingly, six affected individuals of 38 matrilineal relatives (17 females/21 males) are exclusively males in this Chinese family. These matrilineal relatives in this family exhibited late-onset/progressive visual impairment with a wide range of severity, ranging from blindness to normal vision. The age of onset in visual impairment varies from 17 to 30 years. Sequence analysis of the complete mitochondrial genome in this pedigree revealed the presence of the G11778A mutation in ND4 gene and 29 other variants. This mitochondrial genome belongs to the Southern Chinese haplogroup B5b. We showed that the G11778A mutation is present at near homoplasmy in matrilineal relatives of this Chinese family but not in 164 Chinese controls. Incomplete penetrance of LHON in this family indicates the involvement of modulatory factors in the phenotypic expression of visual dysfunction associated with the G11778A mutation. However, none of other mtDNA variants are evolutionarily conserved and implicated to have significantly functional consequence. Thus, nuclear modifier gene(s) or environmental factor(s) seem to account for the penetrance and phenotypic variability of LHON in this Chinese family carrying the G11778A mutation

  19. Town mouse or country mouse: identifying a town dislocation effect in Chinese urbanization.

    Directory of Open Access Journals (Sweden)

    Fei Wang

    Full Text Available Understanding urbanization and evaluating its impact are vital for formulating global sustainable development. The results obtained from evaluating the impact of urbanization, however, depend on the kind of measurement used. With the goal of increasing our understanding of the impact of urbanization, we developed direct and indirect subjective indicators to measure how people assess their living situation. The survey revealed that the projected endorsements and perceived social ambiance of people toward living in different types of settlements did not improve along with the urbanization level in China. The assessment scores from the city dwellers were not significantly different from those from the country areas and, more surprisingly, both were significantly higher than the assessment scores of the town dwellers, which we had expected to fall between the assessment scores of the country and city dwellers. Instead their scores were the lowest. We dubbed this V-shaped relationship the "town dislocation effect." When searching for a potential explanation for this effect, we found additional town dislocation effects in social support, loss aversion, and receptivity toward genetically modified food. Further analysis showed that only social support mediated the relationship between the three tiers of settlements (cities, country areas, and towns and the subjective indicator. The projected endorsements yielded significant subjective assessments that could enhance our understanding of Chinese urbanization. Towns posed specific problems that require special attention.

  20. Targeted genomic enrichment and massively parallel sequencing identifies novel nonsyndromic hearing impairment pathogenic variants in Cameroonian families.

    Science.gov (United States)

    Lebeko, K; Sloan-Heggen, C M; Noubiap, J J N; Dandara, C; Kolbe, D L; Ephraim, S S; Booth, K T; Azaiez, H; Santos-Cortez, R L P; Leal, S M; Smith, R J H; Wonkam, A

    2016-09-01

    In sub-Saharan Africa GJB2-related nonsyndromic hearing impairment (NSHI) is rare. Ten Cameroonian families was studied using a platform (OtoSCOPE®) with 116 genes. In seven of 10 families (70%), 12 pathogenic variants were identified in six genes. Five of the 12 (41.6%) variants are novel. These results confirm the efficiency of comprehensive genetic testing in defining the causes of NSHI in sub-Saharan Africa. PMID:27246798

  1. Families of children with traumatic injuries identify needs for research and training.

    Science.gov (United States)

    Lash, M; Russo, D C; Navalta, C P; Baryza, M J

    1995-01-01

    This paper summarizes the survey responses of 67 families with children who were hospitalized after traumatic injuries. The survey was conducted during the pre-planning phase of a major research proposal on the rehabilitation of children who had been injured. The purpose of the survey was to involve families in the identification of needs and determination of priorities for research and training in childhood injuries. The first part of the survey focused on direct services that children and their families received through medical, psychosocial, educational and vocational interventions and providers. The second part concerned the immediate and long-term effects of a child's injury upon the family. Families were asked to indicate: (1) the direct care services they considered most important in their child's recovery; (2) areas needing more research and study; (3) training needed by professionals; and (4) information needed by families. Major findings were the importance to families of emergency room treatment and the quality of hospital care; concerns about communication between professionals and parents; the uncertainty of expectations for the future; and lack of information on community resources. Written comments emphasized the emotional impact of physical trauma upon families and the need for longitudinal research, with pediatric rehabilitation viewed as a broad spectrum of care starting with emergency room care and hospitalization and continuing through school and community programs. As a result of this survey several projects were initiated. They include: revision of head sheets distributed by emergency rooms, physician training in communication skills, preparation of families as service coordinators, and development of materials and programs specifically for families. PMID:24525578

  2. Carbon isotopes in otolith amino acids identify residency of juvenile snapper (Family: Lutjanidae) in coastal nurseries

    Science.gov (United States)

    McMahon, K. W.; Berumen, M. L.; Mateo, I.; Elsdon, T. S.; Thorrold, S. R.

    2011-12-01

    This study explored the potential for otolith geochemistry in snapper (Family: Lutjanidae) to identify residency in juvenile nursery habitats with distinctive carbon isotope values. Conventional bulk otolith and muscle stable isotope analyses (SIA) and essential amino acid (AA) SIA were conducted on snapper collected from seagrass beds, mangroves, and coral reefs in the Red Sea, Caribbean Sea, and Pacific coast of Panama. While bulk stable isotope values in otoliths showed regional differences, they failed to distinguish nursery residence on local scales. Essential AA δ13C values in otoliths, on the other hand, varied as a function of habitat type and provided a better tracer of residence in different juvenile nursery habitats than conventional bulk otolith SIA alone. A strong linear relationship was found between paired otolith and muscle essential AA δ13C values regardless of species, geographic region, or habitat type, indicating that otolith AAs recorded the same dietary information as muscle AAs. Juvenile snapper in the Red Sea sheltered in mangroves but fed in seagrass beds, while snapper from the Caribbean Sea and Pacific coast of Panama showed greater reliance on mangrove-derived carbon. Furthermore, compound-specific SIA revealed that microbially recycled detrital carbon, not water-column-based new phytoplankton carbon, was the primary carbon source supporting snapper production on coastal reefs of the Red Sea. This study presented robust tracers of juvenile nursery residence that will be crucial for reconstructing ontogenetic migration patterns of fishes among coastal wetlands and coral reefs. This information is key to determining the importance of nursery habitats to coral reef fish populations and will provide valuable scientific support for the design of networked marine-protected areas.

  3. Development and biotechnological application of a novel endoxylanase family GH10 identified from sugarcane soil metagenome.

    Science.gov (United States)

    Alvarez, Thabata M; Goldbeck, Rosana; dos Santos, Camila Ramos; Paixão, Douglas A A; Gonçalves, Thiago A; Franco Cairo, João Paulo L; Almeida, Rodrigo Ferreira; de Oliveira Pereira, Isabela; Jackson, George; Cota, Junio; Büchli, Fernanda; Citadini, Ana Paula; Ruller, Roberto; Polo, Carla Cristina; de Oliveira Neto, Mario; Murakami, Mário T; Squina, Fabio M

    2013-01-01

    Metagenomics has been widely employed for discovery of new enzymes and pathways to conversion of lignocellulosic biomass to fuels and chemicals. In this context, the present study reports the isolation, recombinant expression, biochemical and structural characterization of a novel endoxylanase family GH10 (SCXyl) identified from sugarcane soil metagenome. The recombinant SCXyl was highly active against xylan from beechwood and showed optimal enzyme activity at pH 6,0 and 45°C. The crystal structure was solved at 2.75 Å resolution, revealing the classical (β/α)8-barrel fold with a conserved active-site pocket and an inherent flexibility of the Trp281-Arg291 loop that can adopt distinct conformational states depending on substrate binding. The capillary electrophoresis analysis of degradation products evidenced that the enzyme displays unusual capacity to degrade small xylooligosaccharides, such as xylotriose, which is consistent to the hydrophobic contacts at the +1 subsite and low-binding energies of subsites that are distant from the site of hydrolysis. The main reaction products from xylan polymers and phosphoric acid-pretreated sugarcane bagasse (PASB) were xylooligosaccharides, but, after a longer incubation time, xylobiose and xylose were also formed. Moreover, the use of SCXyl as pre-treatment step of PASB, prior to the addition of commercial cellulolytic cocktail, significantly enhanced the saccharification process. All these characteristics demonstrate the advantageous application of this enzyme in several biotechnological processes in food and feed industry and also in the enzymatic pretreatment of biomass for feedstock and ethanol production.

  4. Carbon isotopes in otolith amino acids identify residency of juvenile snapper (Family: Lutjanidae) in coastal nurseries

    KAUST Repository

    McMahon, Kelton

    2011-08-26

    This study explored the potential for otolith geochemistry in snapper (Family: Lutjanidae) to identify residency in juvenile nursery habitats with distinctive carbon isotope values. Conventional bulk otolith and muscle stable isotope analyses (SIA) and essential amino acid (AA) SIA were conducted on snapper collected from seagrass beds, mangroves, and coral reefs in the Red Sea, Caribbean Sea, and Pacific coast of Panama. While bulk stable isotope values in otoliths showed regional differences, they failed to distinguish nursery residence on local scales. Essential AA δ13C values in otoliths, on the other hand, varied as a function of habitat type and provided a better tracer of residence in different juvenile nursery habitats than conventional bulk otolith SIA alone. A strong linear relationship was found between paired otolith and muscle essential AA δ13C values regardless of species, geographic region, or habitat type, indicating that otolith AAs recorded the same dietary information as muscle AAs. Juvenile snapper in the Red Sea sheltered in mangroves but fed in seagrass beds, while snapper from the Caribbean Sea and Pacific coast of Panama showed greater reliance on mangrove-derived carbon. Furthermore, compound-specific SIA revealed that microbially recycled detrital carbon, not water-column-based new phytoplankton carbon, was the primary carbon source supporting snapper production on coastal reefs of the Red Sea. This study presented robust tracers of juvenile nursery residence that will be crucial for reconstructing ontogenetic migration patterns of fishes among coastal wetlands and coral reefs. This information is key to determining the importance of nursery habitats to coral reef fish populations and will provide valuable scientific support for the design of networked marine-protected areas. © 2011 Springer-Verlag.

  5. Development and biotechnological application of a novel endoxylanase family GH10 identified from sugarcane soil metagenome.

    Science.gov (United States)

    Alvarez, Thabata M; Goldbeck, Rosana; dos Santos, Camila Ramos; Paixão, Douglas A A; Gonçalves, Thiago A; Franco Cairo, João Paulo L; Almeida, Rodrigo Ferreira; de Oliveira Pereira, Isabela; Jackson, George; Cota, Junio; Büchli, Fernanda; Citadini, Ana Paula; Ruller, Roberto; Polo, Carla Cristina; de Oliveira Neto, Mario; Murakami, Mário T; Squina, Fabio M

    2013-01-01

    Metagenomics has been widely employed for discovery of new enzymes and pathways to conversion of lignocellulosic biomass to fuels and chemicals. In this context, the present study reports the isolation, recombinant expression, biochemical and structural characterization of a novel endoxylanase family GH10 (SCXyl) identified from sugarcane soil metagenome. The recombinant SCXyl was highly active against xylan from beechwood and showed optimal enzyme activity at pH 6,0 and 45°C. The crystal structure was solved at 2.75 Å resolution, revealing the classical (β/α)8-barrel fold with a conserved active-site pocket and an inherent flexibility of the Trp281-Arg291 loop that can adopt distinct conformational states depending on substrate binding. The capillary electrophoresis analysis of degradation products evidenced that the enzyme displays unusual capacity to degrade small xylooligosaccharides, such as xylotriose, which is consistent to the hydrophobic contacts at the +1 subsite and low-binding energies of subsites that are distant from the site of hydrolysis. The main reaction products from xylan polymers and phosphoric acid-pretreated sugarcane bagasse (PASB) were xylooligosaccharides, but, after a longer incubation time, xylobiose and xylose were also formed. Moreover, the use of SCXyl as pre-treatment step of PASB, prior to the addition of commercial cellulolytic cocktail, significantly enhanced the saccharification process. All these characteristics demonstrate the advantageous application of this enzyme in several biotechnological processes in food and feed industry and also in the enzymatic pretreatment of biomass for feedstock and ethanol production. PMID:23922891

  6. Development and biotechnological application of a novel endoxylanase family GH10 identified from sugarcane soil metagenome.

    Directory of Open Access Journals (Sweden)

    Thabata M Alvarez

    Full Text Available Metagenomics has been widely employed for discovery of new enzymes and pathways to conversion of lignocellulosic biomass to fuels and chemicals. In this context, the present study reports the isolation, recombinant expression, biochemical and structural characterization of a novel endoxylanase family GH10 (SCXyl identified from sugarcane soil metagenome. The recombinant SCXyl was highly active against xylan from beechwood and showed optimal enzyme activity at pH 6,0 and 45°C. The crystal structure was solved at 2.75 Å resolution, revealing the classical (β/α8-barrel fold with a conserved active-site pocket and an inherent flexibility of the Trp281-Arg291 loop that can adopt distinct conformational states depending on substrate binding. The capillary electrophoresis analysis of degradation products evidenced that the enzyme displays unusual capacity to degrade small xylooligosaccharides, such as xylotriose, which is consistent to the hydrophobic contacts at the +1 subsite and low-binding energies of subsites that are distant from the site of hydrolysis. The main reaction products from xylan polymers and phosphoric acid-pretreated sugarcane bagasse (PASB were xylooligosaccharides, but, after a longer incubation time, xylobiose and xylose were also formed. Moreover, the use of SCXyl as pre-treatment step of PASB, prior to the addition of commercial cellulolytic cocktail, significantly enhanced the saccharification process. All these characteristics demonstrate the advantageous application of this enzyme in several biotechnological processes in food and feed industry and also in the enzymatic pretreatment of biomass for feedstock and ethanol production.

  7. Whole-Exome Sequencing to Decipher the Genetic Heterogeneity of Hearing Loss in a Chinese Family with Deaf by Deaf Mating

    Science.gov (United States)

    Qing, Jie; Yan, Denise; Zhou, Yuan; Liu, Qiong; Wu, Weijing; Xiao, Zian; Liu, Yuyuan; Liu, Jia; Du, Lilin; Xie, Dinghua; Liu, Xue Zhong

    2014-01-01

    Inherited deafness has been shown to have high genetic heterogeneity. For many decades, linkage analysis and candidate gene approaches have been the main tools to elucidate the genetics of hearing loss. However, this associated study design is costly, time-consuming, and unsuitable for small families. This is mainly due to the inadequate numbers of available affected individuals, locus heterogeneity, and assortative mating. Exome sequencing has now become technically feasible and a cost-effective method for detection of disease variants underlying Mendelian disorders due to the recent advances in next-generation sequencing (NGS) technologies. In the present study, we have combined both the Deafness Gene Mutation Detection Array and exome sequencing to identify deafness causative variants in a large Chinese composite family with deaf by deaf mating. The simultaneous screening of the 9 common deafness mutations using the allele-specific PCR based universal array, resulted in the identification of the 1555A>G in the mitochondrial DNA (mtDNA) 12S rRNA in affected individuals in one branch of the family. We then subjected the mutation-negative cases to exome sequencing and identified novel causative variants in the MYH14 and WFS1 genes. This report confirms the effective use of a NGS technique to detect pathogenic mutations in affected individuals who were not candidates for classical genetic studies. PMID:25289672

  8. Systematics of the family Plectopylidae in Vietnam with additional information on Chinese taxa (Gastropoda, Pulmonata, Stylommatophora

    Directory of Open Access Journals (Sweden)

    Barna Páll-Gergely

    2015-01-01

    Full Text Available Vietnamese species from the family Plectopylidae are revised based on the type specimens of all known taxa, more than 600 historical non-type museum lots, and almost 200 newly-collected samples. Altogether more than 7000 specimens were investigated. The revision has revealed that species diversity of the Vietnamese Plectopylidae was previously overestimated. Overall, thirteen species names (anterides Gude, 1909, bavayi Gude, 1901, congesta Gude, 1898, fallax Gude, 1909, gouldingi Gude, 1909, hirsuta Möllendorff, 1901, jovia Mabille, 1887, moellendorffi Gude, 1901, persimilis Gude, 1901, pilsbryana Gude, 1901, soror Gude, 1908, tenuis Gude, 1901, verecunda Gude, 1909 were synonymised with other species. In addition to these, Gudeodiscus hemmeni sp. n. and G. messageri raheemi ssp. n. are described from north-western Vietnam. Sixteen species and two subspecies are recognized from Vietnam. The reproductive anatomy of eight taxa is described. Based on anatomical information, Halongella gen. n. is erected to include Plectopylis schlumbergeri and P. fruhstorferi. Additionally, the genus Gudeodiscus is subdivided into two subgenera (Gudeodiscus and Veludiscus subgen. n. on the basis of the morphology of the reproductive anatomy and the radula. The Chinese G. phlyarius werneri Páll-Gergely, 2013 is moved to synonymy of G. phlyarius. A spermatophore was found in the organ situated next to the gametolytic sac in one specimen. This suggests that this organ in the Plectopylidae is a diverticulum. Statistically significant evidence is presented for the presence of calcareous hook-like granules inside the penis being associated with the absence of embryos in the uterus in four genera. This suggests that these probably play a role in mating periods before disappearing when embryos develop. Sicradiscus mansuyi is reported from China for the first time.

  9. Mutational Analysis of the TYR and OCA2 Genes in Four Chinese Families with Oculocutaneous Albinism.

    Directory of Open Access Journals (Sweden)

    Yun Wang

    Full Text Available Oculocutaneous albinism (OCA is an autosomal recessive disorder. The most common type OCA1 and OCA2 are caused by homozygous or compound heterozygous mutations in the tyrosinase gene (TYR and OCA2 gene, respectively.The purpose of this study was to evaluate the molecular basis of oculocutaneous albinism in four Chinese families.Four non-consanguineous OCA families were included in the study. The TYR and OCA2 genes of all individuals were amplified by polymerase chain reaction (PCR, sequenced and compared with a reference database.Four patients with a diagnosis of oculocutaneous albinism, presented with milky skin, white or light brown hair and nystagmus. Genetic analyses demonstrated that patient A was compound heterozygous for c.1037-7T.A, c.1037-10_11delTT and c.1114delG mutations in the TYR gene; patient B was heterozygous for c.593C>T and c.1426A>G mutations in the OCA2 gene, patients C and D were compound heterozygous mutations in the TYR gene (c.549_550delGT and c.896G>A, c.832C>T and c.985T>C, respectively. The heterozygous c.549_550delGT and c.1114delG alleles in the TYR gene were two novel mutations. Interestingly, heterozygous members in these pedigrees who carried c.1114delG mutations in the TYR gene or c.1426A>G mutations in the OCA2 gene presented with blond or brown hair and pale skin, but no ocular disorders when they were born; the skin of these patients accumulated pigment over time and with sun exposure.This study expands the mutation spectrum of oculocutaneous albinism. It is the first time, to the best of our knowledge, to report that c.549_550delGT and c.1114delG mutations in the TYR gene were associated with OCA. The two mutations (c.1114delG in the TYR gene and c.1426A>G in the OCA2 gene may be responsible for partial clinical manifestations of OCA.

  10. The use of Stunkard's figure rating scale to identify underweight and overweight in Chinese adolescents.

    Directory of Open Access Journals (Sweden)

    Wing-Sze Lo

    Full Text Available BACKGROUND: To compare the performance of Stunkard's current body size (CBS with self-reported body mass index (BMI, waist circumference (WC and waist to stature ratio (WSR in predicting weight status in Chinese adolescents, and to determine the CBS cutoffs for overweight/obesity and underweight. METHODOLOGY: This cross-sectional study was conducted in a sample of 5,418 secondary school students (45.2% boys; mean age 14.7 years. Height and weight were measured by trained teachers or researchers. Subjects were classified as underweight, normal weight, or overweight/obese according to the International Obesity Task Force cutoffs. Subjects were asked to select the figure that best resembled their CBS on the Stunkard's figure rating scale. Self-reported height, weight, WC and WSR were also obtained. The performance of CBS, self-reported BMI, WC and WSR as a weight status indicator was analysed by sex-specific receiver operating characteristic curves. The optimal CBS cutoffs for underweight and overweight/obesity were determined based on the Youden Index. PRINCIPAL FINDINGS: Apart from self-reported BMI, CBS had the greatest area under curve (AUC for underweight in boys (0.82 and girls (0.81. For overweight/obesity, CBS also had a greater AUC (0.85 than self-reported WC and WSR in boys, and an AUC (0.81 comparable to self-reported WC and WSR in girls. In general, CBS values of 3 and 5 appeared to be the optimal cutoffs for underweight and overweight/obesity, respectively, in different sex-age subgroups. CONCLUSIONS/SIGNIFICANCE: CBS is a potentially useful indicator to assess weight status of adolescents when measured and self-reported BMI are not available.

  11. Tiger Parents or Sheep Parents?: Struggles of Parental Involvement in Working-Class Chinese Immigrant Families

    Science.gov (United States)

    Qin, Desirée Baolian; Han, Eun-Jin

    2014-01-01

    Background/Context: Research on Chinese immigrant parents tends to focus on their high levels of educational involvement and its positive impact on their children's exceptional educational performances. Relatively little research has been conducted to understand the challenges Chinese immigrant parents face in helping their children with…

  12. U.S. Families' Adoption of Chinese Daughters: A Narrative Analysis of Family Themes in Children's Books

    Science.gov (United States)

    Fitzpatrick, Jacki; Kostina-Ritchey, Erin

    2013-01-01

    The purpose of this qualitative study was to examine the ways in which family formation processes were presented in international children's adoption books. Guided by Pinderhughes' (1996) adoptive family development model, we conducted a content analysis for the representation of two developmental phases (anticipation and accommodation). A total…

  13. A genome-wide association study identifies a locus on TERT for mean telomere length in Han Chinese.

    Directory of Open Access Journals (Sweden)

    Yun Liu

    Full Text Available Leukocyte telomere length (LTL is a predictor of aging and a number of age-related diseases. We performed genome-wide association studies of mean LTL in 2632 individuals,with a two-stage replication in 3917 individuals from Chinese populations. To further validate our findings, we get the results of 696 samples from a cohort of European ancestry. We identified two loci associated with LTL that map in telomerase reverse transcriptase (TERT; rs2736100, P = 1.93×10(-5 on chromosome 5p15.33 and near keratin 80 (KRT80; rs17653722, P = 6.96×10(-6 on 12q13.13. In Chinese population each C allele of rs2736100 and T allele of rs17653722 was associated with a longer mean telomere length of 0.026 and 0.059 T/S, respectively, equivalent to about 3 and 7 years of average age-related telomere attrition. Our findings provide new insights into telomere regulatory mechanism and even pathogenesis of age-related diseases.

  14. Effort-Reward Imbalance at School and Depressive Symptoms in Chinese Adolescents: The Role of Family Socioeconomic Status

    Directory of Open Access Journals (Sweden)

    Hongxiang Guo

    2014-06-01

    Full Text Available Depression is a major mental health problem during adolescence. This study, using a sample of Chinese adolescents, examined the separate and combined effects of perceived school-related stress and of family socioeconomic status (SES on the prevalence of depressive symptoms. A total of 1774 Chinese students from Grades 7–12 were recruited into our questionnaire survey. School-related stress was measured by the Effort-Reward Imbalance Questionnaire-School Version, family SES was assessed by a standardized question, and depressive symptoms were evaluated by the Center for Epidemiological Studies Depression Scale for Children. Multivariate logistic regression was applied, adjusting for age, gender, grade, smoking, alcohol drinking and physical activity. It was found that high school-related stress and low family SES were associated with elevated odds of depressive symptoms, respectively. The effect of school-related stress was particularly strong in low SES group. In adolescents with both high stress at school and low SES, the odds ratio was 9.18 (95% confidence interval = 6.53–12.89 compared to the reference group (low stress at school and high SES. A significant synergistic interaction effect was observed (synergy index = 2.28, 95% confidence interval = 1.56–3.32. The findings indicated that perceived school-related stress, in terms of effort-reward imbalance, was related to depressive symptoms in this sample of Chinese adolescents. The strong interaction with family SES suggests that health promoting efforts in school settings should be targeted specifically at these socially deprived groups.

  15. Occupational Stress, Work-Family Conflict and Depressive Symptoms among Chinese Bank Employees: The Role of Psychological Capital.

    Science.gov (United States)

    Kan, Dan; Yu, Xiaosong

    2016-01-01

    Although depression is a major problem affecting the physical and mental health of the occupational population worldwide, little research is available among bank employees. The purpose of the study was to examine the effects of occupational stress and work-family conflict on depressive symptoms and the mediating role of psychological capital (PsyCap). A cross-sectional study was performed from May to June in 2013 in Liaoning province, China. The effort-reward imbalance (ERB) scale, the work-family conflict scale, the PsyCap questionnaire and the Center for Epidemiologic Studies Depression scale were completed by 1546 employees in state-owned banks. A total of 1239 effective respondents (467 men and 772 women) became our subjects. Hierarchical regression analysis was carried out to explore the effects of extrinsic effort, reward, overcommitment, work-family conflict, and PsyCap on depressive symptoms. The mediating role of PsyCap was examined using Preacher and Hayes' asymptotic and resampling strategies. The mean score of depressive symptoms was 18.4 (SD = 7.6) among the Chinese bank employees. Extrinsic effort, overcommitment and work-family conflict were positively associated with depressive symptoms. Reward and PsyCap were negatively associated with depressive symptoms. The significant mediating roles of PsyCap in the associations of extrinsic effort (a*b = 0.046, BCa 95% CI: 0.029, 0.066) and reward (a*b = -0.047, BCa 95% CI: -0.065, -0.030) with depressive symptoms were revealed. There is a high level of depressive symptoms among Chinese bank employees. PsyCap partially mediates the effects of extrinsic effort and reward on depressive symptoms. Investing in PsyCap may provide new approaches to improve mental health among Chinese bank employees. PMID:26784215

  16. Occupational Stress, Work-Family Conflict and Depressive Symptoms among Chinese Bank Employees: The Role of Psychological Capital

    Directory of Open Access Journals (Sweden)

    Dan Kan

    2016-01-01

    Full Text Available Although depression is a major problem affecting the physical and mental health of the occupational population worldwide, little research is available among bank employees. The purpose of the study was to examine the effects of occupational stress and work-family conflict on depressive symptoms and the mediating role of psychological capital (PsyCap. A cross-sectional study was performed from May to June in 2013 in Liaoning province, China. The effort-reward imbalance (ERB scale, the work-family conflict scale, the PsyCap questionnaire and the Center for Epidemiologic Studies Depression scale were completed by 1546 employees in state-owned banks. A total of 1239 effective respondents (467 men and 772 women became our subjects. Hierarchical regression analysis was carried out to explore the effects of extrinsic effort, reward, overcommitment, work-family conflict, and PsyCap on depressive symptoms. The mediating role of PsyCap was examined using Preacher and Hayes’ asymptotic and resampling strategies. The mean score of depressive symptoms was 18.4 (SD = 7.6 among the Chinese bank employees. Extrinsic effort, overcommitment and work-family conflict were positively associated with depressive symptoms. Reward and PsyCap were negatively associated with depressive symptoms. The significant mediating roles of PsyCap in the associations of extrinsic effort (a*b = 0.046, BCa 95% CI: 0.029, 0.066 and reward (a*b = −0.047, BCa 95% CI: −0.065, −0.030 with depressive symptoms were revealed. There is a high level of depressive symptoms among Chinese bank employees. PsyCap partially mediates the effects of extrinsic effort and reward on depressive symptoms. Investing in PsyCap may provide new approaches to improve mental health among Chinese bank employees.

  17. Perceived parental control processes, parent-child relational qualities and psychological well-being of Chinese adolescents in intact and non-intact families in Hong Kong.

    Science.gov (United States)

    Shek, Daniel T L; Lee, Tak Yan

    2007-01-01

    This paper examines whether Chinese adolescents' perceptions (N = 3,017) of parental behavioral control (parental knowledge, expectation, monitoring, discipline, and demandingness as well as parental control based on indigenous Chinese concepts), parental psychological control, parent-child relational qualities (perceived parental trust, child's trust of the parents, child's readiness to communicate with the parents, and child's satisfaction with parental control), and adolescent psychological well-being (hopelessness, mastery, life satisfaction and self-esteem) differed in intact and non-intact families. Results showed that relative to non-intact families, parental behavioral control processes were higher and parent-child relational qualities were better in intact families. In contrast, parental psychological control was higher in non-intact families than in intact families. Finally, the psychological well-being of adolescents in non-intact families was poorer than that of adolescents in intact families. PMID:17593768

  18. A method of identifying and weighting indicators of energy efficiency assessment in Chinese residential buildings

    International Nuclear Information System (INIS)

    This paper describes a method of identifying and weighting indicators for assessing the energy efficiency of residential buildings in China. A list of indicators of energy efficiency assessment in residential buildings in the hot summer and cold winter zone in China has been proposed, which supplies an important reference for policy makings in energy efficiency assessment in buildings. The research method applies a wide-ranging literature review and a questionnaire survey involving experts in the field. The group analytic hierarchy process (group AHP) has been used to weight the identified indicators. The size of survey samples are sufficient to support the results, which has been validated by consistency estimation. The proposed method could also be extended to develop the weighted indicators for other climate zones in China. - Research highlights: →Method of identifying indicators of building energy efficiency assessment. →The group AHP method for weighting indicators. →Method of solving multi-criteria decision making problems of choice and prioritisation in policy makings.

  19. Longitudinal Linkages among Parent-Child Acculturation Discrepancy, Parenting, Parent-Child Sense of Alienation, and Adolescent Adjustment in Chinese Immigrant Families

    Science.gov (United States)

    Kim, Su Yeong; Chen, Qi; Wang, Yijie; Shen, Yishan; Orozco-Lapray, Diana

    2013-01-01

    Parent-child acculturation discrepancy is a risk factor in the development of children in immigrant families. Using a longitudinal sample of Chinese immigrant families, the authors of the current study examined how unsupportive parenting and parent-child sense of alienation sequentially mediate the relationship between parent-child acculturation…

  20. Whole-exome identifies RXRG and TH germline variants in familial isolated prolactinoma.

    Science.gov (United States)

    Melo, Flavia M; Couto, Patrícia P; Bale, Allen E; Bastos-Rodrigues, Luciana; Passos, Flavia M; Lisboa, Raony G C; Ng, Jessica M Y; Curran, Tom; Dias, Eduardo P; Friedman, Eitan; De Marco, Luiz

    2016-06-01

    Familial isolated pituitary adenoma (FIPA) is a rare genetic disorder. In a subset of FIPA families AIP germline mutations have been reported, but in most FIPA cases the exact genetic defect remains unknown. The present study aimed to determine the genetic basis of FIPA in a Brazilian family. Three siblings presented with isolated prolactin genes. Further mutation screening was performed using whole-exome sequencing and all likely causative mutations were validated by Sanger sequencing. In silico analysis and secreting pituitary adenoma diagnosed through clinical, biochemical and imaging testing. Sanger sequencing was used to genotype candidate prolactinoma-mutated additional predictive algorithms were applied to prioritize likely pathogenic variants. No mutations in the coding and flanking intronic regions in the MEN1, AIP and PRLR genes were detected. Whole-exome sequencing of three affected siblings revealed novel, predicted damaging, heterozygous variants in three different genes: RXRG, REXO4 and TH. In conclusion, the RXRG and TH possibly pathogenic variants may be associated with isolated prolactinoma in the studied family. The possible contribution of these genes to additional FIPA families should be explored. PMID:27245436

  1. [Identifying different susceptibility loci associated with early onset diabetes and cardiovascular disease in Mexican families].

    Science.gov (United States)

    Canizales-Quinteros, Samuel; Huertas-Vázquez, Adriana; Riba-Ramírez, Laura; Monroy-Guzmán, Adriana; Domínguez-López, Aarón; Romero-Hidalgo, Sandra; Aguilar-Salinas, Carlos; Rodríguez-Torres, Maribel; Ramírez-Jiménez, Salvador; Tusié-Luna, María Teresa

    2005-01-01

    Coronary artery disease and diabetes mellitus are among the primary mortality and morbidity causes in Mexico. Genetic factors play a fundamental role in the development of these entities. In the past few years due to the recognition and study of families with monogenic forms of diabetes and dislipidemias associated with development of atherosclerosis, several genes and loci have been associated with these conditions through genetic linkage studies. These studies have provided evidence of the genetic heterogeneity that exists and the type of genes involved in different ethnic groups. The study of Mexican families with early-onset diabetes and combined familial hyperlipidemia showed the participation of different genetic loci associated with these conditions in the Mexican population. These findings show the value of gene mapping strategies in the identification of the genetic component in these entities in our population.

  2. Whole-exome sequencing identifies rare, functional CFH variants in families with macular degeneration

    OpenAIRE

    Yu, Yi; Triebwasser, Michael P.; Wong, Edwin K.S.; Schramm, Elizabeth C.; Thomas, Brett; Reynolds, Robyn; Elaine R Mardis; John P Atkinson; Daly, Mark; Raychaudhuri, Soumya; Kavanagh, David; Seddon, Johanna M.

    2014-01-01

    We sequenced the whole exome of 35 cases and 7 controls from 9 age-related macular degeneration (AMD) families in whom known common genetic risk alleles could not explain their high disease burden and/or their early-onset advanced disease. Two families harbored novel rare mutations in CFH (R53C and D90G). R53C segregates perfectly with AMD in 11 cases (heterozygous) and 1 elderly control (reference allele) (LOD = 5.07, P = 6.7 × 10−7). In an independent cohort, 4 out of 1676 cases but none of...

  3. Association between SNP and haplotypes in PPARGCl and adiponectin genes and bone mineral density in Chinese nuclear families

    Institute of Scientific and Technical Information of China (English)

    Zhen-lin ZHANG; Jin-wei HE; Yue-juan QIN; Yun-qiu HU; Miao LI; Yu-juan LIU; Hao ZHANG; Wei-wei HU

    2007-01-01

    Aim: To assess the contribution of single nucleotide polymorphisms (SNP) and haplotypes in the peroxisome proliferator-activated receptor-γ co-activator-1(PPARGC1) and adiponectin genes to normal bone mineral density (BMD) variation in healthy Chinese women and men. Methods: We performed population-based (ANOVA) and family-based (quantitative trait locus transmission disequi-librium test) association studies of PPARGC1 and adiponectin genes. SNP in the 2 genes were genotyped. BMD was measured using dual-energy X-ray absorptiometry in the lumbar spine and hip in 401 nuclear families with a total of1260 subjects, including 458 premenopausal women, 20-40 years of age; 401 post-menopausal women (mothers), 43-74 years of age; and 401 men (fathers), 49-76years of age. Results: Significant within-family association was found between the Thr394Thr polymorphism in the PPGAGC1 gene and peak BMD in the femoral neck (P=0.026). Subsequent permutations were in agreement with this significant within-family association result (P=0.016), but Thr394Thr SNP only accounted for0.7% of the variation in femoral neck peak BMD. However, no significant within-family association was detected between each SNP in the adiponect in gene and peak BMD. Although no significant association was found between BMD and SNP in the PPARGC1 and adiponectin genes in both men and postmenopausal women, haplotype 2 (T-T) in the adiponect in gene was associated with lumbar spine BMD in postmenopausal women (P=0.019). Conclusion: Our findings sug-gest that Thr394Thr SNP in the PPARGC1 gene was associated with peak BMD in the femoral neck in Chinese women. Confirmation of our results is needed in other populations and with more functional markers within and flanking the PPARGC1 or adiponectin genes region.

  4. Presence of mutation m.14484T>C in a Chinese family with maternally inherited essential hypertension but no expression of LHON.

    Science.gov (United States)

    Guo, Hao; Zhuang, Xin-Ying; Zhang, A-Mei; Zhang, Wen; Yuan, Yong; Guo, Li; Yu, Dandan; Liu, Juan; Yang, Da-Kuan; Yao, Yong-Gang

    2012-10-01

    Essential hypertension (EH, MIM 145500) is the most common cardiovascular disease and affects one-quarter of the world's adult population. Families with EH in a mode of maternal transmission have been occasionally observed in clinical settings and suggested an involvement of mitochondrial DNA (mtDNA) mutation. We aimed to characterize the role of mtDNA mutation in EH. We reported a large Han Chinese family with a maternally inherited EH and an extraordinarily high percentage of sudden death mainly in affected females. Analysis of the entire mtDNA genome of the proband identified a homoplasmic primary mutation m.14484T>C for Leber's hereditary optic neuropathy (LHON), along with several variants indicating haplogroup F1 status. Intriguingly, no maternal member in this family had LHON though they all harbored m.14484T>C. The arterial stiffness of the members carrying mutation m.14484T>C was significantly increased than that of non-maternal members without this mutation. No environmental factor (including age, sex, smoking, diabetes, hyperlipidemia) was correlated with the decreased aortic elastic properties observed in affected members. Mitochondrial respiration rate and membrane potential (ΔΨ(m)) were significantly reduced in lymphoblastoid cell lines established from affected members carrying m.14484T>C when compared to control cell lines (PC causes EH under certain circumstance. This study provides a paradigm for diverse phenotypes of the primary LHON mutation and suggests for the necessity of routine cardiac evaluation in patients with the primary LHON mutation.

  5. Identifying Mediators of the Influence of Family Factors on Risky Sexual Behavior

    Science.gov (United States)

    Simons, Leslie Gordon; Burt, Callie Harbin; Tambling, Rachel Blyskal

    2013-01-01

    Participation in risky sexual behaviors has many deleterious consequences and is a source of concern for parents as well as practitioners, researchers, and public policy makers. Past research has examined the effect of family structure and supportive parenting on risky sexual behaviors among emerging adults. In the present study, we attempt to…

  6. Development and validation of search filters to identify articles on family medicine in online medical databases

    NARCIS (Netherlands)

    D.H.J. Pols (David); W.M. Bramer (Wichor M); P.J.E. Bindels (Patrick J.E.); F.A. van de Laar (Floris A.); A.M. Bohnen

    2015-01-01

    textabstractPhysicians and researchers in the field of family medicine often need to find relevant articles in online medical databases for a variety of reasons. Because a search filter may help improve the efficiency and quality of such searches, we aimed to develop and validate search filters to i

  7. Examining the Possibilities of Identifying and Modeling Correlations between Product Families and Business Processes

    DEFF Research Database (Denmark)

    Jepsen, Allan Dam; Hvam, Lars

    2010-01-01

    Variant Master (PVM) modeling technique and Process Flow Charts in combination, to analyze the correlation between complexity in product families and business processes. The approach is based on a visual modeling of the product assortment and the business processes. It is hypothesized that the combined...

  8. A Novel Tool for Peptide Pattern Recognition Identifies 13 Subgroups of the GH61 Family

    DEFF Research Database (Denmark)

    Busk, Peter Kamp; Lange, Mette; Lange, Lene

    2011-01-01

    Proteins of the glycosyl hydrolase family 61 (gh61) are important proteins for fungal degradation of biomass. There are 132 entries for gh61 in the CAZY database, no subfamilies have been defined and each fungus may have several gh61s with very different sequences. Alignment of highly divergent s...

  9. Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family.

    Science.gov (United States)

    Li, M; Yang, L J; Hua, H-K; Zhu, X-H; Dai, X-Y

    2009-01-01

    Epidermolytic plamoplantar keratoderma (EPPK) is an autosomal dominant inherited disease. It caused by mutations in the highly conserved coil 1A domain of the keratin 9 gene, KRT9. We studied a four-generation family with EPPK combined with knuckle pads from Jiangsu province, China. In this study, a heterozygous nucleotide T-->C transition at position 500 in exon 1 of KRT9 was detected, which resulted in a leucine to serine (L167S) change. We describe this mutation in a Chinese pedigree with EPPK with knuckle pads for the first time, demonstrating the prevalence of this mutation in diverse population.

  10. Fructose-induced aberration of metabolism in familial gout identified by sup 31 P magnetic resonance spectroscopy

    Energy Technology Data Exchange (ETDEWEB)

    Seegmiller, J.E. (John Radcliffe Hospital, Oxford (England) Univ. of California, San Diego (United States)); Dixon, R.M.; Kemp, G.J.; Rajagopalan, B.; Radda, G.K. (John Radcliffe Hospital, Oxford (England)); Angus, P.W. (John Radcliffe Hospital, Oxford (England) Austin Hospital, Heidelburg, Victoria (Australia)); McAlindon, T.E.; Dieppe, P. (Univ. of Bristol (England))

    1990-11-01

    The hyperuricemia responsible for the development of gouty arthritis results from a wide range of environmental factors and underlying genetically determined aberrations of metabolism. {sup 31}P magnetic resonance spectroscopy studies of children with hereditary fructose intolerance revealed a readily detectable rise in phosphomonoesters with a marked fall in inorganic phosphate in their liver in vivo and a rise in serum urate in response to very low doses of oral fructose. Parents and some family members heterozygous for this enzyme deficiency showed a similar pattern when given a substantially larger dose of fructose. Three of the nine heterozygotes thus identified also had clinical gout, suggesting the possibility of this defect being a fairly common cause of gout. In the present study this same noninvasive technology was used to identify the same spectral pattern in 2 of the 11 families studied with hereditary gout. In one family, the index patient's three brothers and his mother all showed the fructose-induced abnormality of metabolism, in agreement with the maternal inheritance of metabolism, in agreement with the maternal inheritance of the gout in this family group. The test dose of fructose used produced a significantly larger increment in the concentration of serum urate in the patients showing the changes in {sup 31}P magnetic resonance spectra than in the other patients with familial gout or in nonaffected members, thus suggesting a simpler method for initial screening for the defect.

  11. Chinese familial tradition and Western influence: a case study in Singapore on decision making at the end of life.

    Science.gov (United States)

    Ho, Zheng Jie Marc; Radha Krishna, Lalit Kumar; Yee, Chung Pheng Alethea

    2010-12-01

    Decision making for an incompetent patient at the end of life is difficult for both family members and physicians alike. Often, palliative care teams are tasked with weaving through opinions, emotions, and goals in search for an amenable solution. Occasionally, these situations get challenging. We present the case of an elderly Chinese Singaporean with metastatic cancer, whose family and physicians had conflicting goals of care. The former was adamant on treating the patient's disease with an untested drug, whereas the latter aimed to treat his symptoms with more conventional medication. Drug-drug interactions prevented treatment with both. Beginning with a discussion of the patient's best interest, we delve into the Singaporean context to show how culture affects medical decision making. Confucianism and filial piety are the values on which this family's workings were based. In an analysis of what this entails, we attempt to explain the significant and assertive family involvement in the decision-making process and their insistence on using novel medications, having exhausted conventional interventions. Within this mix were Western influences, too. Through the Internet, family members have become more informed and empowered in decision making, wresting the traditional paternalistic role of physicians in favor of "patient autonomy." An understanding of such dynamic facets will help better tailor culturally appropriate approaches to such complex situations. PMID:21145471

  12. Association between previously identified loci affecting telomere length and coronary heart disease (CHD in Han Chinese population

    Directory of Open Access Journals (Sweden)

    Ding H

    2014-05-01

    Full Text Available Hui Ding,1 Fen Yan,1 Lin-Lin Zhou,2 Xiu-Hai Ji,3 Xin-Nan Gu,1 Zhi-Wei Tang,1 Ru-Hua Chen11Department of Pulmonary Medicine, The Affiliated Yixing People's Hospital, Jiangsu University, Zhenjiang, Jiangsu Province, 2Department of Cardiology, Affiliated Cixi Hospital, Wenzhou Medical University, Wenzhou, Zhejiang Province, 3Department of Oncology, Affiliated Taicang Hospital of Traditional Chinese Medicine, Suzhou, Jiangsu Province, People's Republic of ChinaPurpose: To replicate previously confirmed telomere-length loci in a Chinese Han population with coronary heart disease (CHD, and investigate these loci and the possibility of and age at onset of CHD.Patients and methods: 1514 CHD patients and 2470 normal controls were recruited. Medical data including age, sex, body mass index, lipid profiles, history of hypertension, type 2 diabetes mellitus, and dyslipidemia were collected from all the participants. Seven previously identified single-nucleotide polymorphisms (SNPs related to leucocyte telomere length were genotyped, including rs10936599 in TERC, rs2736100 in TERT, rs7675998 in NAF1, rs9420907 in OBFC1, rs8105767 in ZNF208, rs755017 in RTEL1, and rs11125529 in ACYP2.Results: No significant difference in genotype frequencies from the Hardy–Weinberg equilibrium test was noted for all tested SNPs both in the CHD patients and the normal controls. No polymorphism was observed for rs9420907, and AA genotype was noted in both the CHD patients and the controls. Neither the genotype nor the allele frequencies of rs2736100, rs8105767, rs11125529, and rs2967374 were significantly different between the CHD patients and the normal controls. For rs10936599 and rs755017, statistical difference was found for the allele frequency but not genotype. Distributions of genotype and allele were significantly different between the two groups for rs7675998. The odds ratio for carriers of CHD was 2.127 (95% confidence interval: 1.909–2.370 for the A allele of rs

  13. Candidate gene resequencing to identify rare, pedigree-specific variants influencing healthy aging phenotypes in the long life family study

    DEFF Research Database (Denmark)

    Druley, Todd E; Wang, Lihua; Lin, Shiow J;

    2016-01-01

    BACKGROUND: The Long Life Family Study (LLFS) is an international study to identify the genetic components of various healthy aging phenotypes. We hypothesized that pedigree-specific rare variants at longevity-associated genes could have a similar functional impact on healthy phenotypes. METHODS......: We performed custom hybridization capture sequencing to identify the functional variants in 464 candidate genes for longevity or the major diseases of aging in 615 pedigrees (4,953 individuals) from the LLFS, using a multiplexed, custom hybridization capture. Variants were analyzed individually...... that was significantly associated with three phenotypes (GSK3B with the Healthy Aging Index, NOTCH1 with diastolic blood pressure and TP53 with serum HDL). CONCLUSIONS: Sequencing analysis of family-based associations for age-related phenotypes can identify rare or novel variants....

  14. The purchase of intimacy : Chinese urban one-child families in housing consumption

    OpenAIRE

    Zhong, Xiaohui; 钟晓慧

    2014-01-01

    This study examines the changes of family life and relationships in urban China with reference to the filial piety and intimacy theories as well as the individualization thesis. It takes housing consumption as an entry point and focuses on the intergenerational relations in one-child families. It adopts qualitative research methods to explore consumption practices and the meanings attached to these actions and events for these families. I conducted in-depth interviews with 22 families (mi...

  15. UPLC-QTOFMS(E)-Guided Dereplication of the Endangered Chinese Species Garcinia paucinervis to Identify Additional Benzophenone Derivatives.

    Science.gov (United States)

    Li, Ping; Anandhi Senthilkumar, Harini; Figueroa, Mario; Wu, Shi-Biao; Fata, Jimmie E; Kennelly, Edward J; Long, Chunlin

    2016-06-24

    A number of Garcinia species accumulate benzophenone derivatives that may be useful for the treatment of breast cancer. The dereplication of new benzophenone derivatives from Garcinia species is challenging due to the occurrence of multiple isomers and the known compounds found in their extracts. In the current study, a strategy is described using the UPLC-QTOFMS(E) technique to identify tentatively the known and uncharacterized benzophenones of interest based upon the characteristic fragmentation ions. Several UPLC-QTOFMS peaks (a-ee) appeared to contain benzophenone derivatives, and 12 of these peaks contained compounds with MS ionization profiles not consistent with previously identified compounds from the seeds of Garcinia paucinervis, an endangered Chinese species. The targeted isolation of unidentified compounds of interest afforded five new benzophenones, paucinones E-I (1-5), which were determined by MS and NMR analysis and ECD spectroscopy. These compounds were evaluated for cytotoxicity against three breast cancer cell lines inclusive of MDA-MB-231, SKBR3, and MCF-7. These results indicate that the UPLC-QTOFMS(E)-guided isolation procedure is an efficient strategy for isolating new benzophenones from Garcinia species. PMID:27266714

  16. Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family

    Directory of Open Access Journals (Sweden)

    A-ping Sun

    2015-01-01

    Full Text Available Charcot-Marie-Tooth disease type 1A (CMT1A is caused by duplication of the peripheral myelin protein 22 (PMP22 gene on chromosome 17. It is the most common inherited demyelinating neuropathy. Type 2 diabetes mellitus is a common metabolic disorder that frequently causes predominantly sensory neuropathy. In this study, we report the occurrence of CMT1A in a Chinese family affected by type 2 diabetes mellitus. In this family, seven individuals had duplication of the PMP22 gene, although only four had clinical features of polyneuropathy. All CMT1A patients with a clinical phenotype also presented with type 2 diabetes mellitus. The other three individuals had no signs of CMT1A or type 2 diabetes mellitus. We believe that there may be a genetic link between these two diseases.

  17. Family-environmental factors associated with attention deficit hyperactivity disorder in Chinese children: a case-control study.

    Directory of Open Access Journals (Sweden)

    Xianming du Prel Carroll

    Full Text Available BACKGROUND: Attention deficit hyperactivity disorder (ADHD is one of the most common psychiatric disorders, affecting an estimated 5 to 12% of school-aged children worldwide. From 15 to 19 million Chinese children suffer from ADHD. The aim of this study was to investigate the association between family-environmental factors and ADHD in a sample of Chinese children. METHODS: A pair-matched, case-control study was conducted with 161 ADHD children and 161 non-ADHD children of matching age and sex, all from 5-18 years of age. The ADHD subjects and the normal controls were all evaluated via structured diagnostic interviews. We examined the association between family-environmental factors and ADHD using the conditional multiple logistic regression with backward stepwise selection to predict the associated factors of ADHD. RESULTS: Having experienced emotional abuse and being a single child were both significant factors associated with children diagnosed with ADHD. ADHD subjects were more likely to have suffered from emotional abuse (OR = 11.09, 95% CI = 2.15-57.29, P = 0.004 and have been a single child in the family (OR = 6.32, 95% CI = 2.09-19.14, P = 0.001 when compared to normal controls. The results were not modified by other confounding factors. CONCLUSION: Our findings provide evidence that family-environmental factors are associated with ADHD among children in China. These findings, if confirmed by future research, may help to decrease ADHD by increasing the awareness of the effects of childhood emotional abuse.

  18. Communicating with Chinese American families in the NICU using the Giger and Davidhizar transcultural model.

    Science.gov (United States)

    Merritt, Linda

    2013-01-01

    Having an infant admitted to the neonatal intensive care unit (NICU) can be a frightening experience for parents. However, it can be even more frightening for them when they are from a different culture and speak a different language than the health care team. Hence, a nurse needs to be culturally competent in order to provide proper care to a multicultural society. The purpose of this article is to describe how NICU nurses can communicate with one such culture, the Chinese American, the largest Asian group in the United States. A transcultural nursing model will be described to use as a guide to help the nurse. The culture, Chinese Americans, will be described to help nurses provide culturally competent care. Research studies will be presented so the reader can develop an understanding of how parents of Chinese descent perceive the care they receive. Interventions and recommendations will be presented on how to enhance communication between the nurses and this cultural group. PMID:23985471

  19. Novel A CTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    Theγ-actin(ACTG1)gene is a cytoplasmic nonmuscle actin gene,which encodes a major cytoskeletal protein in the sensory hair cells of the cochlea.Mutations in ACTG1 were found to cause autosomal dominant,progressive,sensorineural hearing loss linked to the DFNA 20/26 locus on chromosome 17q25.3 in European and American families,respectively.In this study,a novel missense mutation (c.364A>G;p.I122V)co-segregated with the affected individuals in the family and did not exist in the unaffected family members and 150 unrelated normal controls.The alteration of residue I1e122 was predicted to damage its interaction with actin-binding proteins,which may cause disruption of hair cell organization and function.These findings strongly suggested that the I122V mutation in ACTG1 caused autosomal dominant non-syndromic hearing impairment in a Chinese family and expanded the spectrum of ACTG1 mutations causing hearing loss.

  20. Exome Sequencing Identifies a DNAJB6 Mutation in a Family with Dominantly-Inherited Limb-Girdle Muscular Dystrophy

    OpenAIRE

    Couthouis, Julien; Raphael, Alya R.; Siskind, Carly; Findlay, Andrew R.; Buenrostro, Jason D.; Greenleaf, William J.; Vogel, Hannes; Day, John W.; Flanigan, Kevin M.; Gitler, Aaron D.

    2014-01-01

    Limb-girdle muscular dystrophy primarily affects the muscles of the hips and shoulders (the “limb-girdle” muscles), although it is a heterogeneous disorder that can present with varying symptoms; there is currently no cure. We sought to identify the genetic basis of limb-girdle muscular dystrophy type 1 in an American family of Northern European descent using exome sequencing. Exome sequencing was performed on DNA samples from two affected siblings and one unaffected sibling and resulted in t...

  1. Perceived Organizational Support Impacts on the Associations of Work-Family Conflict or Family-Work Conflict with Depressive Symptoms among Chinese Doctors.

    Science.gov (United States)

    Hao, Junhui; Wang, Jiana; Liu, Li; Wu, Wei; Wu, Hui

    2016-03-16

    As a common mental disorder, depressive symptoms had been studied extensively all over the world. However, positive resources for combating depressive symptoms among Chinese doctors were rarely studied. Our study aimed to investigate the relationships between work-family conflict (WFC) and family-work conflict (FWC) with depressive symptoms among Chinese doctors. Meanwhile, the role of perceived organizational support (POS) in this association was explored at an organizational level. The investigation was conducted between March and April 2014. Questionnaires that measured WFC, FWC, depressive symptoms and POS were distributed to 1200 doctors in Shenyang, China. The final study subjects were 931 doctors (effective response rate: 77.6%). In all analyses, male and female doctors were analyzed separately because of possible gender differences. Hierarchical linear regression analyses were used to examine the moderating role of POS. Baron and Kenny's technique and asymptotic and resampling strategies were used to explore the mediating role of POS on the associations of WFC or FWC with depressive symptoms. WFC and FWC had positive relations with depressive symptoms among doctors. POS played a partial mediating role on the correlation of FWC with depressive symptoms among male doctors, and POS played a partial mediating role on the correlation of WFC with depressive symptoms among female doctors. POS had a positive moderating effect on the relationship between WFC and depressive symptoms among doctors. WFC and FWC could aggravate doctors' depressive symptoms, and POS, as an organizational resource, could fight against doctors' depressive symptoms. When POS functioned as a mediator, FWC had a negative effect on POS, which could increase male doctors' depressive symptoms, and WFC had a negative effect on POS, which could increase female doctors' depressive symptoms. In the meantime, POS, as a moderator, could enhance the effects of WFC on depressive symptoms.

  2. Parent Involvement in Children's Education: An Exploratory Study of Urban, Chinese Immigrant Families

    Science.gov (United States)

    Ji, Cheng Shuang; Koblinsky, Sally A.

    2009-01-01

    This exploratory study examined the involvement of Chinese immigrant parents in children's elementary and secondary education. Participants were 29 low-income, urban parents of public school children working primarily in the hospitality sector. Parents were interviewed about their academic expectations, knowledge of school performance, parent…

  3. The Interdependent Family-Centric Career: Career Perspective of the Overseas Chinese in Indonesia

    Science.gov (United States)

    Pekerti, Andre A.

    2008-01-01

    This theoretical article presents an interdisciplinary approach to extend the scope of current career theories and their application to the overseas Chinese (OC) in Indonesia. Using an ecological model to analyze culture and an emic perspective, the article discusses several factors that affect careers of OC Indonesians. Factors such as culture,…

  4. Chinese Immigrant High School Students' Cultural Interactions, Acculturation, Family Obligations, Language Use, and Social Support

    Science.gov (United States)

    Yeh, Christine J.; Okubo, Yuki; Ma, Pei-Wen Winnie; Shea, Munyi; Ou, Dongshu; Pituc, Stephanie T.

    2008-01-01

    When immigrant youth come to the United States, they must learn to interact with dominant and cultural groups as part of the adjustment process. The current study investigated whether the association between Chinese immigrant high school students' (N = 286) English fluency, academic and career/college help-seeking, multidimensional acculturation,…

  5. Exome sequencing identifies a DNAJB6 mutation in a family with dominantly-inherited limb-girdle muscular dystrophy.

    Science.gov (United States)

    Couthouis, Julien; Raphael, Alya R; Siskind, Carly; Findlay, Andrew R; Buenrostro, Jason D; Greenleaf, William J; Vogel, Hannes; Day, John W; Flanigan, Kevin M; Gitler, Aaron D

    2014-05-01

    Limb-girdle muscular dystrophy primarily affects the muscles of the hips and shoulders (the "limb-girdle" muscles), although it is a heterogeneous disorder that can present with varying symptoms. There is currently no cure. We sought to identify the genetic basis of limb-girdle muscular dystrophy type 1 in an American family of Northern European descent using exome sequencing. Exome sequencing was performed on DNA samples from two affected siblings and one unaffected sibling and resulted in the identification of eleven candidate mutations that co-segregated with the disease. Notably, this list included a previously reported mutation in DNAJB6, p.Phe89Ile, which was recently identified as a cause of limb-girdle muscular dystrophy type 1D. Additional family members were Sanger sequenced and the mutation in DNAJB6 was only found in affected individuals. Subsequent haplotype analysis indicated that this DNAJB6 p.Phe89Ile mutation likely arose independently of the previously reported mutation. Since other published mutations are located close by in the G/F domain of DNAJB6, this suggests that the area may represent a mutational hotspot. Exome sequencing provided an unbiased and effective method for identifying the genetic etiology of limb-girdle muscular dystrophy type 1 in a previously genetically uncharacterized family. This work further confirms the causative role of DNAJB6 mutations in limb-girdle muscular dystrophy type 1D.

  6. Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations

    DEFF Research Database (Denmark)

    Hansen, Thomas V O; Jønson, Lars; Steffensen, Ane Y;

    2011-01-01

    and BRCA2 in high risk breast and/or ovarian cancer families. The mutations were detected via pre-screening using dHPLC or high-resolution melting and direct sequencing. We identified 16 variants in BRCA1, including 9 deleterious frame-shift mutations, 2 intronic variants, 4 missense mutations, and 1...... synonymous variant. The remaining 24 variants were identified in BRCA2, including 10 deleterious mutants (6 frame-shift and 4 nonsense), 2 intronic variants, 10 missense mutations and 2 synonymous variants. The frequency of the variants of unknown significance was examined in control individuals. Moreover...

  7. Bioinformatic Analysis of GIF Protein Family in Chinese Cabbage%大白菜GIF蛋白家族的生物信息学分析

    Institute of Scientific and Technical Information of China (English)

    王凤德; 李利斌; 李化银; 刘立峰; 高建伟

    2012-01-01

    GIF( GRF - interacting factor)家族是一类含有SNH和QG结构域的蛋白质,可与GRF( Growth regulating factor)转录因子蛋白相结合形成功能复合体,通过促进和维持细胞的分裂能力参与调控植物叶器官的发育.本研究系统鉴定了5个大白菜的GIF基因,并对这些基因编码的蛋白质序列进行了保守性和系统进化分析,最后对BrGIF1基因的表达进行了分析.结果表明,所有的大白菜和拟南芥GIF蛋白家族成员都具有高度保守的SNH和QG结构域.在进化上,GIF蛋白家族可分为两个不同的亚家族,并且这种特征在大白菜和拟南芥分离之前就已经形成.在表达模式上,BrGIF1基因在具有较大叶球的白菜自交系以及具有较强细胞分裂能力的组织中的转录表达水平较高.另外,BrGIF1基因的表达受到NAA的诱导和ABA的抑制.这些结果表明大白菜GIF蛋白可能具有和拟南芥GIF蛋白相似的生物学功能,在调控植物器官发育中具有重要作用.%GIF ( GRF - interacting factor) protein family is one kind of transcription coactivator which features the existence of SNH and QG domains. The members of this family could form a functional complex with GRF and act synergistically in regulating the development of leaves through the promotion and/or maintenance of cell proliferation activity in leaf primordia. In this study, five GIF genes were identified from Chinese cabbage by bioinformatics analysis. The conserved sequences of these proteins were analyzed and a polygenetic tree was constructed based on the corresponding GIF proteins from Chinese cabbage and Arabidopsis thaliana. The expression of these genes was analyzed, too. The results showed that all GIF proteins had the highly conservative SNH and QG domains and could be divided into two sub - family groups, which might have existed before the split of Chinese cabbage and Arabidopsis thalina. The expression level of BrGIF1 was higher not only in the inbred lines

  8. Validation of Type 2 Diabetes Risk Variants Identified by Genome-Wide Association Studies in Northern Han Chinese

    Directory of Open Access Journals (Sweden)

    Ping Rao

    2016-08-01

    Full Text Available Background: More than 60 genetic susceptibility loci associated with type 2 diabetes mellitus (T2DM have been established in populations of Asian and European ancestry. Given ethnic differences and environmental factors, validation of the effects of genetic risk variants with reported associations identified by Genome-Wide Association Studies (GWASs is essential. The study aims at evaluating the associations of T2DM with 29 single nucleotide polymorphisms (SNPs from 19 candidate genes derived from GWASs in a northern Han Chinese population. Method: In this case-control study, 461 T2DM-diagnosed patients and 434 controls were recruited at the Jidong oil field hospital (Hebei, China from January 2009 to October 2013. A cumulative genetic risk score (cGRS was calculated by summation of the number of risk alleles, and a weight GRS (wGRS was calculated as the sum of risk alleles at each locus multiplied by their effect sizes for T2DM, using the independent variants selected. Result: The allelic frequency of the “A” allele at rs17106184 (Fas-associated factor 1, FAF1 was significantly higher in the T2DM patients than that of the healthy controls (11.7% vs. 6.4%, p < 0.001. Individuals in the highestquartile of wGRS had an over three-fold increased risk for developing T2DM compared with those in the lowest quartile (odds ratio = 3.06, 95% CI = 1.92–4.88, p < 0.001 adjusted for age, sex, BMI, total cholesterol (TC, triglycerides (TG, low-density lipoprotein cholesterol (LDL-C, systolic blood pressure (SBP and diastolic blood pressure (DBP. The results were similar when analyzed with the cGRS. Conclusions: We confirmed the association between rs17106184 (FAF1 and T2DM in a northern Han Chinese population. The GRS calculated based on T2DM susceptibility variants may be a useful tool for predicting the T2DM susceptibility.

  9. Arterial tortuosity syndrome : Clinical and molecular findings in 12 newly identified families

    NARCIS (Netherlands)

    Callewaert, B. L.; Willaert, A.; Kerstjens-Frederikse, W. S.; De Backer, J.; Devriendt, K.; Albrecht, B.; Ramos-Arroyo, M. A.; Doco-Fenzy, M.; Hennekam, R. C. M.; Pyeritz, R. E.; Krogmann, O. N.; Gillessen-kaesbach, G.; Wakeling, E. L.; Nik-zainal, S.; Francannet, C.; Mauran, P.; Booth, C.; Barrow, M.; Dekens, R.; Loeys, B. L.; Coucke, P. J.; De Paepe, A. M.

    2008-01-01

    Arterial tortuosity syndrome (ATS) is a rare autosomal recessive connective tissue disease, characterized by widespread arterial involvement with elongation, tortuosity, and aneurysms of the large and middle-sized arteries. Recently, SLC2A10 mutations were identified in this condition. This gene enc

  10. Can Self-Declared Personal Values Be Used to Identify Those with Family Medicine Career Aspirations?

    Science.gov (United States)

    Beach, Renee A.; Eva, Kevin W.; Reiter, Harold I.

    2008-01-01

    Purpose: Self-declaration of personal values has been suggested as a means of identifying students with greater predilection for future primary care careers. While statistically significant differences have been demonstrated, absolute differences between those interested in primary care and those interested in specialist careers tend to be small.…

  11. 中韩家庭剧空间表现的文化意蕴%Cultural Connotations of Settings in Chinese and Korean Family Dramas

    Institute of Scientific and Technical Information of China (English)

    吴玉杰

    2014-01-01

    中韩家庭剧的空间表现不同,韩国家庭剧表现的空间主要是城市家庭,在日常生活中展现大家庭的魅力;而中国家庭剧的表现空间以家庭为中心,向外多维延展,包括广阔的社会场景和复杂的人物关系。表现空间的不同暗含着中韩家庭剧不同的审美追求与文化意蕴,韩国家庭剧执着于日常生活审美,彰显儒家伦理的现代生命之华,并潜隐一定的性别倾向性;而中国家庭剧追求审美的多元化,但同时凸显比较强的社会问题意识。%There are differences in the settings between Chinese and Korean family dramas.Korean family dramas are mostly set in contemporary families, portraying the daily lives of large families, while Chinese family se-ries, though focusing on family, expand their settings to a multidimensional extent, incorporating wider social situa-tions and complicated relations among characters.The differences in settings imply the differences in aesthetics and cultural connotations between Chinese and Korean family dramas.Korean family dramas concentrate their aesthetic pursuit on everyday life, highlighting the modern life out of Confucian ethics, as well as insinuating certain gender propensities.Meanwhile, Chinese family dramas focus on aesthetic diversity, though putting strong awareness on social issues.

  12. Cosegregation of the ND4 G11696A mutation with the LHON-associated ND4 G11778A mutation in a four generation Chinese family.

    Science.gov (United States)

    Qu, Jia; Li, Ronghua; Zhou, Xiangtian; Tong, Yi; Yang, Li; Chen, Jie; Zhao, Fuxing; Lu, Chunjie; Qian, Yaping; Lu, Fan; Guan, Min-Xin

    2007-01-01

    We report here the characterization of a four-generation Han Chinese family with Leber's hereditary optic neuropathy (LHON). This Chinese family exhibited a variable severity and age-at-onset of visual loss. Notably, the average age-at-onset of vision impairment changed from 26 years (generation III) to 14 years (generation IV), with the average of 18 years in this family. In addition, 30% and 50% of matrilineal relatives in generation III and IV of this family developed visual loss with a variability of severity, ranging from blindness to normal vision. Sequence analysis of the complete mitochondrial DNA in this pedigree revealed the presence of the homoplasmic ND4 G11778A mutation and 33 other variants, belonging to the Asian haplogroup D4. Of other variants, the homoplasmic G11696A mutation in the ND4 gene is of special interest as it was implicated to be associated with LHON in a large Dutch family and five Chinese pedigrees with extremely penetrance of visual loss. In fact, the G11696A mutation caused the substitution of an isoleucine for valine at amino acid position 313, located in a predicted transmembrane region of ND4. These imply that the G11696A mutation may act in synergy with the primary LHON-associated G11778A mutation in this Chinese pedigree.

  13. A novel mutation in GJB1 (c.212T>G) in a Chinese family with X-linked Charcot-Marie-Tooth disease.

    Science.gov (United States)

    Xiao, Fei; Tan, Jia-ze; Zhang, Xu; Wang, Xue-Feng

    2015-03-01

    Gap junction protein beta 1 (GJB1) gene mutations lead to X-linked Charcot-Marie-Tooth (CMTX) disease. We investigated a Chinese family with CMTX and identified a novel GJB1 point mutation. Clinical and electrophysiological features of the pedigree were examined, and sequence alterations of the coding region of GJB1 that encode connexin32 were determined by direct sequencing. Sequence alignment of the mutation site was performed using Clustal W. Mutation effects were analysed using PolyPhen-2, SIFT and Mutation Taster software. The three-dimensional structures of the mutant and wild-type proteins were predicted by modeling with SWISS MODEL online software. The affected family members displayed typical Charcot-Marie-Tooth phenotypes, but phenotypic heterogeneity was observed. Nerve conduction velocities of all affected patients were slow. Sequencing of GJB1 revealed a heterozygous T>G missense mutation at nucleotide 212 in the proband, the proband's mother and the proband's daughter. The affected male sibling of the proband displayed a hemizygous missense mutation with T>G transition at the identical position on the GJB1 gene. This mutation resulted in an amino acid change from isoleucine to serine that was predicted to lead to tertiary structural alterations that would disrupt the function of the GJB1 protein. A novel point mutation in GJB1 was detected, expanding the spectrum of GJB1 mutations known to be associated with CMTX.

  14. Exome sequencing reveals a heterozygous DLX5 mutation in a Chinese family with autosomal-dominant split-hand/foot malformation.

    Science.gov (United States)

    Wang, Xue; Xin, Qian; Li, Lin; Li, Jiangxia; Zhang, Changwu; Qiu, Rongfang; Qian, Chenmin; Zhao, Hailing; Liu, Yongchao; Shan, Shan; Dang, Jie; Bian, Xianli; Shao, Changshun; Gong, Yaoqin; Liu, Qiji

    2014-09-01

    Split-hand/foot malformation (SHFM) is a congenital limb deformity due to the absence or dysplasia of central rays of the autopod. Six SHFM loci have already been identified. Here we describe a Chinese family with autosomal-dominant SHFM1 that has previously been mapped to 7q21.2-21.3. The two affected family members, mother and son, showed deep median clefts between toes, ectrodactyly and syndactyly; the mother also showed triphalangeal thumbs. Exome sequencing and variant screening of candidate genes in the six loci known to be responsible for SHFM revealed a novel heterozygous mutation, c.558G>T (p.(Gln186His)), in distal-less homeobox 5 (DLX5). As DLX5 encodes a transcription factor capable of transactivating MYC, we also tested whether the mutation could affect DLX5 transcription acitivity. Results from luciferase reporter assay revealed that a mutation in DLX5 compromised its transcriptional activity. This is the first report of a mutation in DLX5 leading to autosomal-dominant SHFM1. PMID:24496061

  15. Validation of transcutaneous bilirubin nomogram for identifying neonatal hyperbilirubinemia in healthy Chinese term and late-preterm infants: a multicenter study

    OpenAIRE

    Zhangbin Yu; Shuping Han; Jinxia Wu; Mingxia Li; Huaiyan Wang; Jimei Wang; Jiebo Liu; Xinnian Pan; Jie Yang; Chao Chen

    2014-01-01

    OBJECTIVE: to prospectively validate a previously constructed transcutaneous bilirubin (TcB) nomogram for identifying severe hyperbilirubinemia in healthy Chinese term and late-preterm infants. METHODS: this was a multicenter study that included 9,174 healthy term and late-preterm infants in eight hospitals of China. TcB measurements were performed using a JM-103 bilirubinometer. TcB values were plotted on a previously developed TcB nomogram, to identify the predictive ability for subseq...

  16. Transcriptomic and biochemical analyses identify a family of chlorhexidine efflux proteins

    OpenAIRE

    Hassan, Karl A.; Jackson, Scott M; Penesyan, Anahit; Patching, Simon G.; Tetu, Sasha G.; Eijkelkamp, Bart A.; Brown, Melissa H.; Henderson, Peter J. F.; Paulsen, Ian T.

    2013-01-01

    Drug resistance is an increasing problem in clinical settings with some bacterial pathogens now resistant to virtually all available drugs. Chlorhexidine is a commonly used antiseptic and disinfectant in hospital environments, and there is increasing resistance to chlorhexidine seen in some pathogenic bacteria, such as Acinetobacter baumannii. This paper examines the global gene expression of A. baumannii in response to chlorhexidine exposure and identifies a gene that we demonstrate to media...

  17. Early frameshift mutation in PIGA identified in a large XLID family without neonatal lethality.

    Science.gov (United States)

    Belet, Stefanie; Fieremans, Nathalie; Yuan, Xuan; Van Esch, Hilde; Verbeeck, Jelle; Ye, Zhaohui; Cheng, Linzhao; Brodsky, Brett R; Hu, Hao; Kalscheuer, Vera M; Brodsky, Robert A; Froyen, Guy

    2014-03-01

    The phosphatidylinositol glycan class A (PIGA) protein is a member of the glycosylphosphatidylinositol anchor pathway. Germline mutations in PIGA located at Xp22.2 are thought to be lethal in males. However, a nonsense mutation in the last coding exon was recently described in two brothers with multiple congenital anomalies-hypotonia-seizures syndrome 2 (MCAHS2) who survived through birth likely because of the hypomorphic nature of the truncated protein, but died in their first weeks of life. Here, we report on a frameshift mutation early in the PIGA cDNA (c.76dupT; p.Y26Lfs*3) that cosegregates with the disease in a large family diagnosed with a severe syndromic form of X-linked intellectual disability. Unexpectedly, CD59 surface expression suggested the production of a shorter PIGA protein with residual functionality. We provide evidence that the second methionine at position 37 may be used for the translation of a 36 amino acids shorter PIGA. Complementation assays confirmed that this shorter PIGA cDNA was able to partially rescue the surface expression of CD59 in a PIGA-null cell line. Taken together, our data strongly suggest that the early frameshift mutation in PIGA produces a truncated hypomorph, which is sufficient to rescue the lethality in males but not the MCAHS2-like phenotype.

  18. Functional characterization of a CRH missense mutation identified in an ADNFLE family.

    Directory of Open Access Journals (Sweden)

    Veronica Sansoni

    Full Text Available Nocturnal frontal lobe epilepsy has been historically considered a channelopathy caused by mutations in subunits of the neuronal nicotinic acetylcholine receptor or in a recently reported potassium channel. However, these mutations account for only a minority of patients, and the existence of at least a new locus for the disease has been demonstrated. In 2005, we detected two nucleotide variations in the promoter of the CRH gene coding for the corticotropin releasing hormone in 7 patients. These variations cosegregated with the disease and were demonstrated to alter the cellular levels of this hormone. Here, we report the identification in an Italian affected family of a novel missense mutation (hpreproCRH p.Pro30Arg located in the region of the CRH coding for the protein pro-sequence. The mutation was detected in heterozygosity in the two affected individuals. In vitro assays demonstrated that this mutation results in reduced levels of protein secretion in the short time thus suggesting that mutated people could present an altered capability to respond immediately to stress agents.

  19. The genome and transcriptome of the zoonotic hookworm Ancylostoma ceylanicum identify infection-specific gene families.

    Science.gov (United States)

    Schwarz, Erich M; Hu, Yan; Antoshechkin, Igor; Miller, Melanie M; Sternberg, Paul W; Aroian, Raffi V

    2015-04-01

    Hookworms infect over 400 million people, stunting and impoverishing them. Sequencing hookworm genomes and finding which genes they express during infection should help in devising new drugs or vaccines against hookworms. Unlike other hookworms, Ancylostoma ceylanicum infects both humans and other mammals, providing a laboratory model for hookworm disease. We determined an A. ceylanicum genome sequence of 313 Mb, with transcriptomic data throughout infection showing expression of 30,738 genes. Approximately 900 genes were upregulated during early infection in vivo, including ASPRs, a cryptic subfamily of activation-associated secreted proteins (ASPs). Genes downregulated during early infection included ion channels and G protein-coupled receptors; this downregulation was observed in both parasitic and free-living nematodes. Later, at the onset of heavy blood feeding, C-lectin genes were upregulated along with genes for secreted clade V proteins (SCVPs), encoding a previously undescribed protein family. These findings provide new drug and vaccine targets and should help elucidate hookworm pathogenesis. PMID:25730766

  20. Desiring mobiles, desiring education: mobile phones and families in a rural Chinese Town

    OpenAIRE

    McDonald, T.

    2016-01-01

    This chapter draws on ethnographic data to examine the relationship between mobile communication technologies (especially mobile phones) and learning in a small rural town in north China. Building on a wide body of literature that emphasises the enduring importance of education within Chinese culture, this chapter demonstrates how contemporary attitudes towards learning become constructed and expressed through mobile phone use. The chapter illustrates how most rural parents regard mobile phon...

  1. Protecting Your Family From Earthquakes-The Seven Steps to Earthquake Safety (in English, Chinese, Vietnamese, and Korean)

    Science.gov (United States)

    Developed by American Red Cross, Asian Pacific Fund

    2007-01-01

    This book is provided here because of the importance of preparing for earthquakes before they happen. Experts say it is very likely there will be a damaging San Francisco Bay Area earthquake in the next 30 years and that it will strike without warning. It may be hard to find the supplies and services we need after this earthquake. For example, hospitals may have more patients than they can treat, and grocery stores may be closed for weeks. You will need to provide for your family until help arrives. To keep our loved ones and our community safe, we must prepare now. Some of us come from places where earthquakes are also common. However, the dangers of earthquakes in our homelands may be very different than in the Bay Area. For example, many people in Asian countries die in major earthquakes when buildings collapse or from big sea waves called tsunami. In the Bay Area, the main danger is from objects inside buildings falling on people. Take action now to make sure your family will be safe in an earthquake. The first step is to read this book carefully and follow its advice. By making your home safer, you help make our community safer. Preparing for earthquakes is important, and together we can make sure our families and community are ready. English version p. 3-13 Chinese version p. 14-24 Vietnamese version p. 25-36 Korean version p. 37-48

  2. Family-Concentrated Ownership in Chinese PLCs: Does Ownership Concentration Always Enhance Corporate Value?

    Directory of Open Access Journals (Sweden)

    Jin-Hui Luo

    2014-02-01

    Full Text Available In this paper we investigate the relationship between family ownership structure and corporate value across a sample of 1314 firm-year observations of China’s family publicly listed companies (PLCs, from 2004 to 2008. We find a significant inverse-U-shaped relationship between the controlling family’s ultimate cash-flow rights and corporate value; as measured by Tobin’s Q. That is, as family-ownership concentration increases, corporate value first increases and then decreases. This finding refreshes our understanding of the relationship between family-ownership concentration and corporate value in emerging economies such as found in China. We corroborate prior findings that when controlling families hold excess control over cash-flow rights, corporate value is significantly lowered, while multiple large shareholders structure is significantly associated with higher corporate value. In addition; board independence is found to significantly improve corporate value in the context of family-concentrated ownership. We also test for potential endogeneity between family ownership and corporate value and find our results to be robust.

  3. Screening of 1331 Danish breast and/or ovarian cancer families identified 40 novel BRCA1 and BRCA2 mutations

    DEFF Research Database (Denmark)

    Hansen, Thomas V O; Jønson, Lars; Steffensen, Ane Y;

    2011-01-01

    Germ-line mutations in the tumour suppressor genes BRCA1 and BRCA2 predispose to breast and ovarian cancer. Since 1999 we have performed mutational screening of breast and/or ovarian cancer patients in East Denmark. During this period we have identified 40 novel sequence variations in BRCA1...... and BRCA2 in high risk breast and/or ovarian cancer families. The mutations were detected via pre-screening using dHPLC or high-resolution melting and direct sequencing. We identified 16 variants in BRCA1, including 9 deleterious frame-shift mutations, 2 intronic variants, 4 missense mutations, and 1...... interpreted as pathogenic, 3 missense mutations were suggested to be pathogenic based on in silico analysis, 6 mutations were suggested to be benign since they were identified in patients together with a well-known disease-causing BRCA1/BRCA2 mutation, while 12 were variants of unknown significance....

  4. Longitudinal Linkages among Parent-Child Acculturation Discrepancy, Parenting, Parent-Child Sense of Alienation, and Adolescent Adjustment in Chinese Immigrant Families

    OpenAIRE

    Kim, Su Yeong; Chen, Qi; Wang, Yijie; Shen, Yishan; Orozco-Lapray, Diana

    2012-01-01

    Parent-child acculturation discrepancy is a risk factor in the development of children in immigrant families. Using a longitudinal sample of Chinese immigrant families, the current study examined how unsupportive parenting and parent-child sense of alienation sequentially mediate the relationship between parent-child acculturation discrepancy and child adjustment during early and middle adolescence. Acculturation discrepancy scores were created using multilevel modeling to take into account t...

  5. Parent–Adolescent Discrepancies in Perceived Parenting Characteristics and Adolescent Developmental Outcomes in Poor Chinese Families

    OpenAIRE

    Leung, Janet T. Y.; Daniel T. L. Shek

    2013-01-01

    We examined the relationships between parent–adolescent discrepancies in perceived parenting characteristics (indexed by parental responsiveness, parental demandingness, and parental control) and adolescent developmental outcomes (indexed by achievement motivation and psychological competence) in poor families in Hong Kong. A sample of 275 intact families having at least one child aged 11–16 experiencing economic disadvantage were invited to participate in the study. Fathers and mothers compl...

  6. EXPRESSION OF T CELL RECEPTOR Vα GENE FAMILIES IN INTRATHYROIDAL T CELLS OF CHINESE PATIENTS WITH GRAVES' DISEASE

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

    Objective. Patients with Graves' disease (GD) have marked lymphocytic infiltration in their thyroid glands. We examined the gene for the variable regions of the α-chain of the Chinese T-cell receptor( Vα gene) in intrathyroidal Tcells to determine the role of T cells in the pathogenesis of GD and offer potential for the development of immunothera-peutic remedies for GD. Methods. We used the reverse transcription and polymerase chain reaction(RT-PCR) to amplify complementary DNA(cDNA) for the 18 known families of the Vα gene in intrathyroidal T cells from 5 patients with Graves' disease.The findings were compared with the results of peripheral blood T cells in the same patients as well as those in normalsubjects. Results. We found that marked restriction in the expression of T cell receptor Vα genes by T cells from the thyroidtissue of Chinese patients with GD(P < 0.001). An average of only 4.6 ± 1.52 of the 18 Vα genes were expressed insuch samples, as compared with 10.4 ± 2.30Vα genes expressed in peripheral blood T cells from the same patients.The pattem of expressed Vα genes differed from patient to patient with no clear predominance. Condusions. Expression of intrathyroidal T cell receptor Vα genes in GD is highly restricted suggesting the prima-cy of T cells in causing the disorders.

  7. Chinese Folk"Family"Culture%中国民间“香火”文化初探

    Institute of Scientific and Technical Information of China (English)

    谢国荣

    2015-01-01

    "Incense" customs reflect the ancient Chinese with the fear and worship of the gods of heaven and earth, and folk "incense" stems mainly from China's profound traditional family ethics and clan. A shrine is the core content of "incense". In the old days, in addition to ancestors and the emperors, only teachers could be consecrated by“incense”on a shrine which indicated that the teachers had lofty posi⁃tion in the minds of the Chinese nation.%“香火”习俗反映了中国古人对天地诸神的敬畏和崇拜,而民间“香火”主要源于中国深厚的家庭伦理和宗族传统。神位,是“香火”的核心内容。在旧时代,除了祖先和国君之外,人世间能够上香火让人供奉的人就是老师,可见老师在中华民族心目中的崇高地位。

  8. A novel mitofusin 2 gene mutation causing Charcot-Marie-Tooth type 2A disease in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    CHEING Chor Kwan; LAU Kwok Kwong; YU Kwok Wai; CHAN Yan Wo Albert; MAK Miu Chloe

    2010-01-01

    @@ Charcot-Marie-Tooth disease (CMT), also known as hereditary motor and sensory neuropathies, comprises a genetically heterogeneous group of inherited peripheral neuropathies. Clinically it is characterized by progressive distal weakness, muscle atrophy, distal sensory loss and loss of deep tendon reflexes. Following electrophysiological criteria, CMT is divided into two main forms: the primarily demyelinating neuropathy CMT1 with severely decreased nerve conduction velocity (NCV) (38 m/s) but decreased amplitudes.1 CMT2A, an autosomal dominant disease caused by mitofusin 2 gene (MFN2) mutations, is the most common type of CMT2, accounting for up to 33% of familial CMT2 cases.2 We reported a patient with clinical diagnosis of CMT2 caused by a novel MFN2 mutation. To our knowledge, this is a relatively early report of genetically confirmed CMT2A in Chinese.

  9. 中国民营企业国际化转型问题研究%Research on the International Transformation of Chinese Family Businesses

    Institute of Scientific and Technical Information of China (English)

    叶笛

    2012-01-01

    With the coming of economic crisis, the Chinese family businesses meet new opportunities and challenges. How the family businesses deal with the crisis and comply with the international trends of restructuring are practical problems that the current government and the family entrepreneurs must face and deal with. Firstly, new challenges of the environment which the Chinese family enterprises face in the economic crisis are examined in this article. In addition, this article expli-cates reasons for the international transformation of family firms in China, as well as questions existing in it. At last, the strategy for the international transformation of Chinese family businesses is proposed.%经济危机给我国民营企业带来了机遇与挑战,民营企业如何应对危机,顺应国际化转型趋势,这是我国政府与民营企业家当前必须面对的现实问题.首先探讨经济危机下我国民营企业面临生存环境的新挑战,其次解析我国民营企业国际化战略转型的动因,及我国民营企业国际化转型中的困惑,最后提出了我国民营企业国际化转型的思路.

  10. Taking the Role of the Family Seriously in Treating Chinese Psychiatric Patients: A Confucian Familist Review of China's First Mental Health Act.

    Science.gov (United States)

    Fan, Ruiping; Wang, Mingxu

    2015-08-01

    This essay argues that the Chinese Mental Health Act of 2013 is overly individualistic and fails to give proper moral weight to the role of Chinese families in directing the process of decision-making for hospitalizing and treating the mentally ill patients. We present three types of reactions within the medical community to the Act, each illustrated with a case and discussion. In the first two types of cases, we argue that these reactions are problematic either because they comply with the law but undermine the patient's interests by refusing the family's request to have the patient hospitalized, or violate the law by hospitalizing patients in response to the real concerns of their families. In the third type of situation, psychiatrists inappropriately encourage families to produce evidence of the patient's behavior that is harmful to self or others in order legally to commit the patient. Each of these problems, we conclude, should be tackled by supplementing Article 30 of the Act with the stipulation that a psychiatrist may authorize the involuntary hospitalization of a patient, who is not at risk of causing physical harm to self or others, with the consent of all major family members. Drawing on the deeply culturally embedded moral traditions of Confucian medical familism, this proposal would facilitate the proper treatment of a significant number of Chinese mentally ill patients under the care of their families. PMID:26049082

  11. Differences in lifestyle behaviors, dietary habits, and familial factors among normal-weight, overweight, and obese Chinese children and adolescents

    Directory of Open Access Journals (Sweden)

    Guo Xiaofan

    2012-10-01

    Full Text Available Abstract Background Pediatric obesity has become a global public health problem. Data on the lifestyle behaviors, dietary habits, and familial factors of overweight and obese children and adolescents are limited. The present study aims to compare health-related factors among normal-weight, overweight, and obese Chinese children and adolescents. Methods We conducted a cross-sectional study consisted of 4262 children and adolescents aged 5–18 years old from rural areas of the northeast China. Anthropometric measurements and self-reported information on health-related variables, such as physical activities, sleep duration, dietary habits, family income, and recognition of weight status from the views of both children and parents, were collected by trained personnel. Results The prevalence rates of overweight and obesity were 15.3 and 6.4%, respectively. Compared to girls, boys were more commonly overweight (17.5% vs. 12.9% and obese (9.5% vs. 3.1%. Approximately half of the parents with an overweight or obese child reported that they failed to recognize their child’s excess weight status, and 65% of patients with an overweight child reported that they would not take measures to decrease their child’s body weight. Obese children and adolescents were more likely to be nonsnackers [odds ratio (OR: 1.348; 95% confidence interval (CI: 1.039–1.748] and to have a family income of 2000 CNY or more per month (OR: 1.442; 95% CI: 1.045–1.99 and less likely to sleep longer (≥7.5 h (OR: 0.475; 95% CI: 0.31–0.728 than the normal-weight participants. Conclusions Our study revealed a high prevalence of overweight and obesity in a large Chinese pediatric population. Differences in sleep duration, snacking, family income, and parental recognition of children’s weight status among participants in different weight categories were observed, which should be considered when planning prevention and treatment programs for pediatric obesity.

  12. Punitive Discipline and Child Behavior Problems in Chinese-American Immigrant Families: The Moderating Effects of Indigenous Child-Rearing Ideologies

    Science.gov (United States)

    Fung, Joey J.; Lau, Anna S.

    2009-01-01

    In a sample of 107 Chinese immigrant families we examined whether cultural child-rearing beliefs moderated the association between parents' use of punitive discipline and children's behavioral adjustment. Immigrant parents and their children aged 7 to 17 years completed measures of parental discipline and child behavior problems. Parents also…

  13. MLH1 promoter germline-methylation in selected probands of Chinese hereditary non-polyposis colorectal cancer families

    Institute of Scientific and Technical Information of China (English)

    Heng-Hua Zhou; Shi-Yan Yan; Xiao-Yan Zhou; Xiang Du; Tai-Ming Zhang; Xu Cai; Yong-Ming Lu; San-Jun Cai; Da-Ren Shi

    2008-01-01

    AIM:To detect the MLH1 gene promoter germlinemethylation in probands of Chinese hereditary nonpolyposis colorectal cancer (HNPCC),and to evaluate the role of methylation in MLH1 gene promoter and molecular genetics in screening for HNPCC.METHODS:The promoter germline methylation of MLH1 gene was detected by methylation-specific PCR (MSP) in 18 probands from unrelated HNPCC families with high microsatellite-instability (MSI-H) phenotype but without germline mutations in MSH2,MLH1 and MSH6 genes.At the same time,6 kindreds were collected with microsatellite-stability (MSS) phenotype but without germline mutations in MSH2,MLH1 and MSH6 genes as controls.The results of MSP were confirmed by clone sequencing.To ensure the reliability of the results,family H65 with nonsense germline mutation at c.2228C>A in MSH2 gene was used as the negative control and the cell line sw48 was used as the known positive control along with water as the blank control.Immunochemical staining of MLH1 protein was performed with Envision two-step method in those patients with aberrant methylation to judge whether the status of MLH1 gene methylation affects the expression of MLH1 protein.RESULTS:Five probands with MLH1 gene promoter methylation were detected in 18 Chinese HNPCC families with MSI-H phenotype but without germline mutations in MSH2,MLH1 and MSH6 genes.Two of the five probands from families H10 and H29 displayed exhaustive-methylation,fulfilling the Japanese criteria (JC) and the Amsterdam criteria (AC),respectively.The other 3 probands presented part-methylation fulfilling the AC.Of the 13 probands with unmethylation phenotype,8 fulfilled the JC and the Bethesda guidelines (BG),5 fulfilled the AC.The rate of aberrant methylation in MLH1 gene in the AC group (22.2%,4/18) was higher than that in the JC/BG groups (5.6%,1/18) in all HNPCC families with MSI-H phenotype but without germline mutations in MSH2,MLH1 and MSH6 genes.However,no proband with methylation in MLH1 gene was found

  14. A novel missense KIT mutation causing piebaldism in one Chinese family associated with café-au-lait macules and intertriginous freckling

    Directory of Open Access Journals (Sweden)

    Jia WX

    2015-04-01

    Full Text Available Wei-Xue Jia,1,2 Xue-Min Xiao,1,2 Jian-Bing Wu,1,2 Yi-Ping Ma,1,2 Yi-Ping Ge,1,2 Qi Li,1,2 Qiu-Xia Mao,1,2 Cheng-Rang Li1,2 1Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, Jiangsu, China; 2Jiangsu Key Laboratory of Molecular Biology for Skin Diseases and STIs, Nanjing, Jiangsu, China Abstract: Piebaldism is a rare autosomal dominant genodermatosis, manifesting as congenital and stable depigmentation of the skin and white forelock. It has been found to be associated with mutations in the KIT or SLUG genes. We report a Chinese piebaldism family including a 28-year-old woman and her 3-year-old son with characteristics of white patches and forelock associated with numerous brown macules and patches. Genomic DNA samples of the proband and her son were extracted from their peripheral blood. One hundred unrelated healthy individuals were used as controls. All coding regions of KIT, SLUG, and NF1 genes were amplified by polymerase chain reaction using exon flanking intronic primers and Sanger sequencings were performed. DNA sequencing revealed heterozygous missense c.2431T>G mutation in exon 17 of the KIT gene in the proband and the affected son. No potentially pathogenic variant was identified in SLUG or NF1 genes. The nucleotide substitution was not found in 100 unrelated control individuals. This study reveals a novel KIT mutation in piebaldism, and it further supports that café-au-lait macules and intertriginous freckling of piebaldism are parts of pigmented anomaly in piebaldism, which does not necessarily represent coexistence of neurofibromatosis type 1 (NF1. Keywords: novel mutation, KIT gene, neurofibromatosis type 1 

  15. 我国诺里病家系NDP基因的突变分析%Analysis of gene mutation in a Chinese family with Norrie disease

    Institute of Scientific and Technical Information of China (English)

    张天晓; 赵秀丽; 华芮; 张劲松; 张学

    2012-01-01

    Objective To detect the pathogenic mutation in a Chinese family with Norrie disease.Methods Clinical diagnosis was based on familial history,clinical sign and B ultrasonic examination.Peripheral blood samples were obtained from all available members in a Chinese family with Norrie disease.Genomic DNA was extracted from lymphocytes by the standard SDS-proteinase K-phenol/chloroform method.Two coding exons and all intron-exon boundaries of the NDP gene were PCR amplified using three pairs of primers and subjected to automatic DNA sequence.The causative mutation was confirmed by restriction enzyme analysis and genotyping analysis in all members.Results Sequence analysis of NDP gene revealed a missense mutation c.220C > T (p.Arg74Cys ) in the proband and his mother. Further mutation identification by restriction enzyme analysis and genotyping analysis showed that the proband was homozygote of this mutation.His mother and other four unaffected members ( Ⅲ3,Ⅳ4,Ⅲ5 and Ⅱ2) were carriers of this mutation.The mutant amino acid located in the C-terminal cystine knot-like domain,which was critical motif for the structure and function of NDP. Conclusion A NDP missense mutation was identified in a Chinese family with Norrie disease.%目的 对我国诺里病一家系进行致病基因突变的鉴定,确定其家系中是否存在NDP基因突变.方法 基因家系研究.发现一个3代均患有诺里病的家系,共13人,患者3人,现存患者仅先证者1人,为20月龄男孩.根据诺里病家族史、临床体征及眼科B超检查对患者进行临床诊断;采集该家系成员外周血标本,常规提取基因组DNA;设计并合成3对特异性引物,通过PCR扩增NDP基因的外显子及外显子与内含子交界区,PCR产物直接测序;通过PCR产物限制性内切酶分析和基因型分析对家系所有13名成员进行突变鉴定.结果 基因测序结果显示先证者及其母亲均具有NDP基因突变c.220C> T(p.Arg74Cys),且先证者为

  16. Parental Acculturative Stressors and Adolescent Adjustment Through Interparental and Parent-Child Relationships in Chinese American Families.

    Science.gov (United States)

    Hou, Yang; Kim, Su Yeong; Wang, Yijie

    2016-07-01

    Perpetual foreigner stereotype and bicultural management difficulty are two understudied acculturative stressors frequently experienced by Asian Americans. This study expanded the family stress model to examine how parental experiences of these two acculturative stressors relate to measures of adolescent adjustment (depressive symptoms, delinquent behaviors, and academic performance) during high school and emerging adulthood through interparental and parent-child relationship processes. Participants were 350 Chinese American adolescents (M age  = 17.04, 58 % female) and their parents in Northern California. Path models showed that parental acculturative stressors positively related to parent-child conflict, either directly (for both mother-adolescent and father-adolescent dyads) or indirectly through interparental conflict (for mother-adolescent dyads only). Subsequently, both interparental and parent-child conflict positively related to a sense of alienation between parents and adolescents, which then related to more depressive symptoms, more delinquent behaviors, and lower academic performance in adolescents, for mother-adolescent and father-adolescent dyads. These effects persisted from high school to emerging adulthood. The results highlight the indirect effects of maternal and paternal acculturative stressors on adolescent adjustment through family processes involving interparental and parent-child relationships. PMID:26885827

  17. Language Socialization and Interculturality: Address Terms in Intergenerational Talk in Chinese Diasporic Families

    Science.gov (United States)

    Hua, Zhu

    2010-01-01

    This paper aims to contribute to the current debate on "interculturality" (IC) by investigating the process of language socialization whereby different generations of diasporic families negotiate, construct, and renew their sociocultural values and identities through interaction. Focusing on the use of address terms and "talk about social,…

  18. Doing Well vs. Feeling Well: Understanding Family Dynamics and the Psychological Adjustment of Chinese Immigrant Adolescents

    Science.gov (United States)

    Qin, Desiree Baolian

    2008-01-01

    Despite their average high levels of educational achievement, Asian American students often report poor psychological and social adjustment, suggesting an achievement/adjustment paradox. Yet, the reasons for this paradox remain unclear. Drawing on 5-year longitudinal qualitative interview data, this paper compares the family dynamics of two groups…

  19. Marital Quality, Maternal Depressed Affect, Harsh Parenting, and Child Externalising in Hong Kong Chinese Families

    Science.gov (United States)

    Chang, Lei; Lansford, Jennifer E.; Schwartz, David; Farver, Joann M.

    2004-01-01

    The present study used a family systems approach to examine harsh parenting, maternal depressed affect, and marital quality in relation to children's externalising behaviour problems in a sample of 158 Hong Kong primary school children. At two time points, peers and teachers provided ratings of children's externalising behaviours, and mothers…

  20. Association and linkage analysis of COL1A1 and AHSG gene polymorphisms with femoral neck bone geometric parameters in both Caucasian and Chinese nuclear families

    Institute of Scientific and Technical Information of China (English)

    Hui JIANG; Shu-feng LEI; Su-mei XIAO; Yuan CHEN; Xiao SUN; Fang YANG; Li-ming LI; Shun WU; Hong-wen DENC

    2007-01-01

    Aim: To simultaneously investigate the contribution of the alpha 1 chain of col-lagen type 1 (COL1A1) and alpha2-HS-glycoprotein (AHSG) genes to the varia-tion of bone geometric parameters in both Caucasians and Chinese. Methods: Six hundred and five Caucasian individuals from 157 nuclear families and 1228 Chi-nese subjects from 400 nuclear families were genotyped at the AHSG-Sacl, COL1A1-PCOL2 and Sp1 polymorphisms using polymerase chain reaction (PCR)-restric-tion fragment length polymorphism (RFLP). 5 FN bone geometric parameters were calculated based on bone mineral density and bone area of femoral neck (FN)measured by dual energy X-ray absorptiometry. Population stratification, total family association, within-family association, and linkage tests were performed by the quantitative transmission disequilibrium test program. Results: The t-test showed the significant differences of all bone geometric phenotypes (except ED)between Caucasians and Chinese in the offspring using both unadjusted and adjusted (by age, height, weight, and gender) data. In Caucasians, we found significant within-family association results between the COL1A1-Sp1 polymor-phism (rs1800012) and cross sectional area (CSA), cortical thickness (CT),endocortical diameter (ED), buckling ratio (BR) (P=0.018, 0.002, 0.023, and 0.001,respectively); the COL1A1-Sp1 polymorphism also detected significant linkage with BR (P=0.039). In the population of China, the within-family associations between the COL1A1-PCOL2 polymorphism (rs1107946) and CT, BR were signifi-cant (P=0.012 and 0.008, respectively). Furthermore, evidence of linkage were observed between the AHSG-SacI polymorphism (rs4918) and CT, BR (P--0.042 and 0.014, respectively) in Caucasians, but not in Chinese. Conclusion: Our results suggest that the COL1A1 gene may have significantly association with bone geometry in both Caucasians and Chinese, and the AHSG gene may be linked to bone geometry in Caucasians, but not in Chinese. This study

  1. Genetic diagnosis of Liddle's syndrome by mutation analysis of SCNN1B and SCNN1G in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    WANG Lin-ping; FAN Xiao-han; JIANG Xiong-jing; ZHANG Hui-min; HUI Ru-tai; GAO Ling-gen; ZHOU Xian-liang; WU Hai-ying; ZHANG Lin; WEN Dan; LI Yue-hua; LIU Ya-xin; TIAN Tao

    2012-01-01

    Background Liddle's syndrome is a rare autosomal-dominant monogenic form of salt-sensitive hypertension.This study aimed to screen the gene mutation in β and y subunits of the epithelial sodium channel (ENaC) of a Chinese family with Liddle's syndrome,an autosomal dominant form of hypertension.Methods DNA samples from the proband with early-onset,treatment-resistant hypertension and suppressed plasma renin activity were initially screened for mutations in the C-terminal exons of the ENaC β or Y subunit genes,usingamplification by polymerase chain reaction and direct DNA sequencing.We also screened the C-terminus of SCNN1B and SCNN1G in family members,and screened for the mutation in 150 controls.Results Genetic analysis of the β ENaC gene revealed a missense mutation of CCC to TCC at codon 616 in the proband,her mother and her grandmother.One hundred and fifty randomly selected controls had not the mutation,indicating that this is not a common genetic polymorphism.There was no mutation of the Y ENaC gene in any of the individuals examined.Conclusions Through direct DNA sequencing analysis,we established the diagnosis of Liddle's syndrome for the proband and her families,and provided tailored therapies to this abnormality.These results provide further evidence that Pro616Ser is a critical amino acid that has a key role in the inhibition of sodium channel activity.

  2. Proteomic analyses of the SMYD family interactomes identify HSP90 as a novel target for SMYD2

    Institute of Scientific and Technical Information of China (English)

    Mohamed Abu-Farha; Sylvain Lanouette; Fred Elisma; Véronique Tremblay; Jeffery Butson; Daniel Figeys; Jean-Francois Couture

    2011-01-01

    The SMYD (SET and MYND domain) family of lysine methyltransferases (KMTs) plays pivotal roles in various cellular processes,including gene expression regulation and DNA damage response.Initially identified as genuine histone methyltransferases,specific members of this family have recently been shown to methylate non-histone proteins such as p53,VEGFR,and the retinoblastoma tumor suppressor (pRb).To gain further functional insights into this family of KMTs,we generated the protein interaction network for three different human SMYD proteins (SMYD2,SMYD3,and SMYDS).Characterization of each SMYD protein network revealed that they associate with both shared and unique sets of proteins.Among those,we found that HsP90 and several of its co-chaperones interact specifically with the tetratrico peptide repeat (TPR)-containing SMYD2 and SMYD3.Moreover,using proteomic and biochemical techniques,we provide evidence that SMYD2 methylates K209 and K615 on HSP90 nucleotide-binding and dimerization domains,respectively.In addition,we found that each methylation site displays unique reactivity in regard to the presence of HsP90 co-chaperones,pH,and demethylation by the lysine amine oxidase LSD1,suggesting that alternative mechanisms control HsP90 methylation by SMYD2.Altogether,this study highlights the ability of SMYD proteins to form unique protein complexes that may underlie their various biological functions and the SMYD2-mediated methylation of the key molecular chaperone HSP90.%The SMYD (SET and MYND domain) family of lysine methyltransferases (KMTs) plays pivotal roles in various cellular processes, including gene expression regulation and DNA damage response. Initially identified as genuine histone methyltransferases, specific members of this family have recently been shown to methylate non-histone proteins such as p53, VEGFR, and the retinoblastoma tumor suppressor (pRb). To gain further functional insights into this family of KMTs, we generated the protein interaction

  3. Identifying cultural representations of families and the health team to improve the management of severe malnutrition in childhood.

    Science.gov (United States)

    Castillo-Carniglia, Alvaro; Weisstaub, Sergio Gerardo; Aguirre, Patricia; Aguilar, Ana María; Araya, Magdalena

    2010-04-01

    Severe childhood malnutrition is no longer a priority in Latin America, but mortality of hospitalized malnourished children continues to be high, especially in Bolivia. The objective of the present study was to identify cultural representations in mothers and in health personnel that might influence the relationship between the family and the provider's health care services, thus affecting the treatment of malnourished children. We applied a flexible qualitative model of cases and controls (mothers or caregivers of both under- and well-nourished children), and in addition, health personnel. Results were analyzed following semiotics of statements. Mothers and health professionals based their cultural representations on different conceptions of health. The mothers' mindset indicated that traditional Andean medicine and public health systems are complementary and not contradictory. Conversely, health personnel expressed a univocal vision, accepting only biomedicine. Furthermore, they also expressed a negative attitude toward mothers of severely malnourished children. Results should be considered to improve ongoing local health programs.

  4. Two novel heterozygous mutations of EVC2 cause a mild phenotype of Ellis-van Creveld syndrome in a Chinese family.

    Science.gov (United States)

    Shen, Wenjing; Han, Dong; Zhang, Jin; Zhao, Hongshan; Feng, Hailan

    2011-09-01

    Ellis-van Creveld syndrome (EvC, chondroectodermal dysplasia; OMIM 225500) is an autosomal recessive skeletal dysplasia with associated multisystem involvement. The syndrome is characterized by short limbs, short ribs, postaxial polydactyly, dysplastic nails, and abnormal teeth. Congenital heart defects occur in 50-60% of cases. In this study, we report EvC in a 6-year-old Chinese girl with hypodontia and polydactyly, mild short stature, and abnormalities of the knee joints. No signs of short ribs, narrow thorax, or congenital heart defects were found in this patient. The EvC phenotype shares some similarity with Weyers acrofacial dysostosis (Weyer; OMIM 193530), an autosomal dominant disorder clinically characterized by mild short stature, postaxial polydactyly, nail dystrophy, and dysplastic teeth. Mutations in EVC or EVC2 are associated with both EvC syndrome and Weyers acrodental dysostosis, but the two conditions differ in the severity of the phenotype and their pattern of inheritance. In this study, two novel heterozygous EVC2 mutations, IVS5-2A > G and c.2653C > T (Arg885X), were identified in the patient. The IVS5-2A > G mutation was inherited from the patient's mother and the c.2653C > T from her father. Her parents have no phenotypic symptoms similar to those of the patient. These findings extend the mutation spectrum of this malformation syndrome and provide the possibility of prenatal diagnosis for future offspring in this family.

  5. Identification of a novel COL1A1 frameshift mutation, c.700delG, in a Chinese osteogenesis imperfecta family.

    Science.gov (United States)

    Wang, Xiran; Pei, Yu; Dou, Jingtao; Lu, Juming; Li, Jian; Lv, Zhaohui

    2015-03-01

    Osteogenesis imperfecta (OI) is a family of genetic disorders associated with bone loss and fragility. Mutations associated with OI have been found in genes encoding the type I collagen chains. People with OI type I often produce insufficient α1-chain type I collagen because of frameshift, nonsense, or splice site mutations in COL1A1 or COL1A2. This report is of a Chinese daughter and mother who had both experienced two bone fractures. Because skeletal fragility is predominantly inherited, we focused on identifying mutations in COL1A1 and COL1A2 genes. A novel mutation in COL1A1, c.700delG, was detected by genomic DNA sequencing in the mother and daughter, but not in their relatives. The identification of this mutation led to the conclusion that they were affected by mild OI type I. Open reading frame analysis indicated that this frameshift mutation would truncate α1-chain type I collagen at residue p263 (p.E234KfsX264), while the wild-type protein would contain 1,464 residues. The clinical data were consistent with the patients' diagnosis of mild OI type I caused by haploinsufficiency of α1-chain type I collagen. Combined with previous reports, identification of the novel mutation COL1A1-c.700delG in these patients suggests that additional genetic and environmental factors may influence the severity of OI.

  6. A novel deletion-frameshift mutation in the S1 region of HERG gene in a Chinese family with long QT syndrome

    Institute of Scientific and Technical Information of China (English)

    GAO Ying; ZHANG Ping; LI Xue-bin; WU Cun-cao; GUO Ji-hong

    2013-01-01

    Background The congenital Long QT syndrome (LQTS) is a hereditary cardiac channelopathy that is characterized by a prolonged QT interval,syncope,ventricular arrhythmias,and sudden death.The chromosome 7-linked type 2 congenital LQTS (LQT2) is caused by gene mutations in the human ether-a-go-go-related gene (HERG).Methods A Chinese family diagnosed with LQTS were screened for KCNQ1,HERG and SCN5A,using polymerase chain reaction (PCR),direct sequencing,and clong sequencing.We also investigated the mRNA expression of the HERG gene.Results We identified a novel i414fs+98X mutation in the HERG gene.The deletion mutation of 14-bp in the first transmembrane segment (S1) introduced premature termination codons (PTCs) at the end of exon 6.This mutation would result in a serious phenotype if the truncated proteins co-assembled with normal subunit to form the defective channels.But only the proband was symptomatic.Conclusions We found that the mRNA level of the HERG gene was significantly lower in 1414fs+98X carriers than in noncarriers.We found a novel 1414fs+98X mutation.The mRNA level supports that NMD mechanism might regulate the novel mutation.

  7. Succession Planning in Malaysian Family Owned Business– Case Studies in Malaysian Chinese Owned Business

    OpenAIRE

    Jade Li, Chong

    2009-01-01

    Transferring a business to the next generation can pose serious challenges, especially in the SMEs sector. In many cases, the owner of the SMEs is the pillar of the company and he/she is responsible for most of the functions in the business. Some are near irreplaceable, thus, making succession even more difficult. According to research, about two-thirds of all family businesses fail to make it from the first generation to the second, and even less make it to the third. Researchers believe tha...

  8. Exercise test on the patients with normokalaemic periodic paralysis from a Chinese family with a mutation in the SCN4A gene

    Institute of Scientific and Technical Information of China (English)

    FENG Yu; ZHANG Ying; LIU Zhong-lan; ZHANG Chao-dong

    2008-01-01

    Background Normokalaemic periodic paralysis (normoKPP) is characterized by transient and recurrent myoasthenia,and some patients also show muscle stiffness induced by cold exposure (paramyotonia congenita, PMC). It is caused by a mutation in the muscle voltage gated sodium channel alpha subunit (SCN4A) gene. Due to the diversity of the clinical manifestations of patients, it is difficult for clinicians to differentiate some of patients with atypical normoKPP from those who suffer from other periodic paralysis and nondystrophic myotonia. So far, for normoKPP there are almost no ways to assist definite diagnosis besides genetic screening. This research was designed to evaluate an exercise test (ET) in confirming the diagnosis of normoKPP and in assessing the therapeutic effectiveness of some drugs on this disease.Methods ET, described by McMains, was performed on six subjects from a Chinese family, including four patients with overlapping disease of normoKPP and PMC caused by a mutation of SCN4A Met1592Val that is identified by genetic analysis and two normal control members. The change of compound muscle action potential (CMAP) was recorded.Besides the family, two patients were also tested during treatments with acetazolamide.Results All patients showed a slight increase in CMAP immediately after exercise, followed by an abnormal gradual decline, which reached its nadir 25-30 minutes after exercise. CMAP amplitude dropped by more than 40% in patients but less than 23% in controls. In the patients who received treatment with acetazolamide, the change of CMAP amplitude was less than 28% and, at any fixed times, less than pretreatment values.Conclusions The ET may be used as a predictive, easy and reliable method of diagnosing normoKPP under conditions without genetic screening help, and is an objective way to evaluate the therapeutic effectiveness. According to different response patterns, the ET may also be helpful in reducing the scope of genetic screening.

  9. Relationship Between Polymorphism of Cystathionine beta Synthase Gene and Congenital Heart Disease in Chinese Nuclear Families

    Institute of Scientific and Technical Information of China (English)

    XIAO-MING SONG; XIAO-YING ZHENG; WEN-LI ZHU; LEI HUANG; YONG LI

    2006-01-01

    Objective To study the relationship between polymorphism of cystathionine beta synthase (CBS) gene and development of congenital heart disease (CHD). Methods One hundred and twenty-seven CHD case-parent triads were recruited from Liaoning Province as patient group, and 129 healthy subjects without family history of birth defect were simultaneously recruited as control group together with their biological parents. For all subjects the polymorphism of CBS gene G919A locus was examined by PCR-ARMS method. Results The frequencies of three genotypes (w/w, w/m, and m/m) in control group were 27.2%, 58.4%, and 14.4%, respectively, with no significant difference in gender. A significant difference in the allele frequency was found between CHD patients and controls, the wild allele frequency was 67.9% in patients and 55.7% in controls.CHD parents' genotype distribution was significantly different from that in controls. Further comparison of each type of CHD showed that genotype frequencies in several CHD subtypes were significantly different from those in their corresponding controls. The results of TDT analysis showed that no allele transmission disequilibrium existed in CHD nuclear families.Conclusions CBS gene G919A mutation is associated with the development of CHD, and the mutated allele may decrease the risk of CHD.

  10. Quality assessment of reporting of randomization, allocation concealment, and blinding in traditional chinese medicine RCTs: A review of 3159 RCTs identified from 260 systematic reviews

    Directory of Open Access Journals (Sweden)

    He Xiangyu

    2011-05-01

    Full Text Available Abstract Background Randomized controlled trials (RCTs which are of poor quality tend to exaggerate the effect estimate and lead to wrong or misleading conclusions. The aim of this study is to assess the quality of randomization methods, allocation concealment and blinding within traditional Chinese medicine (TCM RCTs, discuss issues identified for current TCM RCTs, and provide suggestions for quality improvement. Methods We searched Chinese Biomedical Database (CBM, 1978 to July 31, 2009 and the Cochrane Library (Issue 2, 2009 to collect TCM systematic reviews and meta-analyses according to inclusion/exclusion criteria, from which RCTs could be identified. The quality assessment involved whether the randomization methods, allocation concealment and blinding were adequate or not based the study reported. Stratified analyses were conducted of different types of diseases published in different journals (both Chinese and foreign using different interventions. SPSS 15.0 software was used for statistic analyses. Results A total of 3159 RCTs were included, of which 2580 were published in Chinese journals and 579 in foreign journals. There were 381 (12% RCTs which used adequate randomization methods; 207 (7% RCTs which used adequate allocation concealment and 601 (19% which used adequate blinding; there were 130 (4% RCTs which both used adequate randomization methods and allocation concealment; and there were only 100 (3% RCTs which used adequate randomization methods, allocation concealment, as well as blinding. In the RCTs published in foreign journals, the adequate randomization methods, allocation concealment and blinding accounted for a relatively large proportion (25%, 26%, and 60%, respectively and increased with years, while in the RCTs published in Chinese journals, only the adequate randomization methods improved over time. The quality of non-drug intervention (chiefly acupuncture RCTs was higher than that of drug intervention RCTs. In drug

  11. Identification of one novel mutation in the EVC2 gene in a Chinese family with Ellis-van Creveld syndrome.

    Science.gov (United States)

    Zhang, Zeng; Bao, Kun; He, Jin-Wei; Fu, Wen-Zhen; Zhang, Chang-Qing; Zhang, Zhen-Lin

    2012-12-15

    Ellis-van Creveld syndrome (EvC) is a rare autosomal recessive skeletal dysplasia characterized by short limbs, short ribs, postaxial polydactyly, and dysplastic nails and teeth. It is caused by biallelic mutations in the EVC or EVC2 gene. Here, we identified a novel nonsense mutation p.W828X (c.2484G>A) in exon 14 and a recurrent nonsense mutation p. R399X (c.1195C>T) in exon 10 of EVC2 gene in a Chinese boy with EvC. Identification of a novel genotype in EvC will provide clues to the phenotype-genotype relations and may assist not only in the clinical diagnosis of EvC but also in the interpretation of genetic information used for prenatal diagnosis and genetic counseling.

  12. Exome sequencing identifies a novel and a recurrent BBS1 mutation in Pakistani families with Bardet-Biedl syndrome

    NARCIS (Netherlands)

    Ajmal, M.; Khan, M.I.; Neveling, K.; Tayyab, A.; Jaffar, S.; Sadeque, A.; Ayub, H.; Abbasi, N.M.; Riaz, M.; Micheal, S.; Gilissen, C.F.H.A.; Ali, S.H.; Azam, M.; Collin, R.W.J.; Cremers, F.P.M.; Qamar, R.

    2013-01-01

    PURPOSE: To determine the genetic cause of Bardet-Biedl syndrome (BBS) in two consanguineous Pakistani families. METHODS: Clinical characterization of the affected individuals in both families was performed with ophthalmic examination, electroretinography, electrocardiography, and liver and renal pr

  13. A novel deletion mutation of ATP7A gene in a Chinese family with Menkes disease

    Institute of Scientific and Technical Information of China (English)

    ZHANG Li-ping; L(U) Jun-lan; WANG Xiao-hui; ZOU Li-ping

    2008-01-01

    @@ Menkes disease is a rare X-linked recessive hereditary disorder first described bv Menkes et al in 1962.1The gene mutation results in clinical features including pili torti, unusual facies, mental/growth retardation and metabolic dysfunction.The Dathogenic gene ATP7A was identified in 1993.

  14. Identifying the environmental support and constraints to the Chinese economic growth—An application of the Emergy Accounting method

    International Nuclear Information System (INIS)

    The economy of China keeps increasing at high rate, although a bit slower recently than in the past due to the international economic turmoil. The Chinese economic performance affects the world economy in many ways (from increased primary resource and commodity imports to a more active financial role of China worldwide). Not unexpectedly, several and diverse environmental problems are coupled with economic growth, linked to resource availability, competition for energy resources and the overall carrying capacity of the environment as a source and a sink. Monodimensional assessments of either economic growth or environmental aspects are unlikely to provide the needed understanding of development opportunities and potential environmental loading. We suggest in this paper an assessment of the evolution of Chinese Economy based on the Emergy Accounting method, developed by H.T. Odum in the Eighties and further refined more recently. The emergy approach is being increasingly applied worldwide, and in China as well, to study individual production processes, sectors and whole economies and provides a comprehensive picture of the interaction of economic growth and the environment, much useful for economic and environmental policy making. A set of emergy-based performance indicators was calculated with reference to the year 2009 and compared with previous studies from literature, by means of a standardization procedure to ensure consistency. The 2009 national Emergy/GDP ratio, an indicator of the emergy investment per unit of economic product generated, has been calculated respectively as 8.61E+11 solar equivalent joules/Yuan RMB (equivalent to 5.88E+12 sej/US$), showing a decreasing trend from 1975 up-to-date, similar to other countries over their development path. The Emergy Sustainability Index (ESI), an aggregate measure of economic performance and environmental load, also shows a decreasing trend signaling that the Chinese economic development is strictly coupled to

  15. Microarray identifies ADAM family members as key responders to TGF-β1 in alveolar epithelial cells

    Directory of Open Access Journals (Sweden)

    Walls Dermot

    2006-09-01

    Full Text Available Abstract The molecular mechanisms of Idiopathic Pulmonary Fibrosis (IPF remain elusive. Transforming Growth Factor beta 1(TGF-β1 is a key effector cytokine in the development of lung fibrosis. We used microarray and computational biology strategies to identify genes whose expression is significantly altered in alveolar epithelial cells (A549 in response to TGF-β1, IL-4 and IL-13 and Epstein Barr virus. A549 cells were exposed to 10 ng/ml TGF-β1, IL-4 and IL-13 at serial time points. Total RNA was used for hybridisation to Affymetrix Human Genome U133A microarrays. Each in vitro time-point was studied in duplicate and an average RMA value computed. Expression data for each time point was compared to control and a signal log ratio of 0.6 or greater taken to identify significant differential regulation. Using normalised RMA values and unsupervised Average Linkage Hierarchical Cluster Analysis, a list of 312 extracellular matrix (ECM proteins or modulators of matrix turnover was curated via Onto-Compare and Gene-Ontology (GO databases for baited cluster analysis of ECM associated genes. Interrogation of the dataset using ontological classification focused cluster analysis revealed coordinate differential expression of a large cohort of extracellular matrix associated genes. Of this grouping members of the ADAM (A disintegrin and Metalloproteinase domain containing family of genes were differentially expressed. ADAM gene expression was also identified in EBV infected A549 cells as well as IL-13 and IL-4 stimulated cells. We probed pathologenomic activities (activation and functional activity of ADAM19 and ADAMTS9 using siRNA and collagen assays. Knockdown of these genes resulted in diminished production of collagen in A549 cells exposed to TGF-β1, suggesting a potential role for these molecules in ECM accumulation in IPF.

  16. The Use of Stunkard’s Figure Rating Scale to Identify Underweight and Overweight in Chinese Adolescents

    OpenAIRE

    Wing-Sze Lo; Sai-Yin Ho; Kwok-Kei Mak; Tai-Hing Lam

    2012-01-01

    BACKGROUND: To compare the performance of Stunkard's current body size (CBS) with self-reported body mass index (BMI), waist circumference (WC) and waist to stature ratio (WSR) in predicting weight status in Chinese adolescents, and to determine the CBS cutoffs for overweight/obesity and underweight. METHODOLOGY: This cross-sectional study was conducted in a sample of 5,418 secondary school students (45.2% boys; mean age 14.7 years). Height and weight were measured by trained teachers or rese...

  17. Clinical Features and Genetic Analysis of Tuberous Sclerosis Complex in a Chinese Family Caused by c.2677-2678del Mutation on TSC2 Gene

    Institute of Scientific and Technical Information of China (English)

    KE Lai-shun; JIANG Hua; QU Xiu-xiu; ZHENG De-quan; WU Xin-yu; LU Wu-sheng

    2016-01-01

    The clinical data of patients from a Chinese family with tuberous sclerosis complex (TSC) were collected and the gene mutation type of TSC2 of proband in pedigree one was determined by polymerase chain reaction (PCR) and direct genes sequencing. There were 2 cases with TSC in the family, both of whom had facial angioifbromas, one case with ungual ifbromas, the other with mental retardation. The MRI and CT showed multiple intracranial nodules together. What’s more, gene mutation analysis of TSC2 demonstrated the c.2677-2678del mutation in both and the genetic manner deduced with autosomal dominant inheritance.

  18. Identification of a New Lamin A/C Mutation in a Chinese Family Affected with Atrioventricular Block as the Prominent Phenotype

    Institute of Scientific and Technical Information of China (English)

    吴小艳; 王擎; 桂乐; 刘木根; 张贤钦; 金润铭; 李伟; 闫露; 杜戎; 王秋芬; 祝建芳; 杨钧国

    2010-01-01

    Even though mutations in LMNA have been reported in patients with typical dilated cardio-myopathy(DCM)and atrioventricular block(AVB)previously,the purpose of this study was to disclose this novel genetic abnormality in one Chinese family with the atypical phenotype of progressive AVB followed by DCM with normal QRS interval.Genome-wide linkage analysis mapped the AVB gene in this family to a marker at chromosome 1q21.2,where the LMNA gene was located.Direct DNA sequence analysis revealed a heterozygous G t...

  19. 暹罗王室在垄断贸易中重用华侨的原因%The Reasons of Oversea Chinese Having Been Employed at High Levels by Siamese Royal Family in the Monopoly Trade

    Institute of Scientific and Technical Information of China (English)

    石维有

    2004-01-01

    This essay mainly discusses the similarities and mutual complementary in their interests and then makes a general survey of the process of how the Royal Family employed the oversea Chinese to engage in monopoly trade.

  20. A novel mutation at the JK locus causing Jknull phenotype in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    MENG; Yan

    2005-01-01

    [1]Olivès, B., Mattei, M. G., Huet, M. et al., Kidd blood group and urea transport of human erythrocytes are carried by the same pro-tein, J. Biol. Chem., 1995, 270(26): 15607―15610.[2]Sands, J. M., Timmer, R. T., Gunn, R. B., Urea transporters in kidney and erythrocytes, Am. J. Physiol.,1997, 273: F321―F339.[3]Heaton, D. C., McLoughlin, K., Jk(a-b-) red blood cells resist urea lysis, Transfusion, 1982, 22(1): 70―71.[4]Sands, J. M., Gargus, J. J., Frohlich, O. et al., Urinary concentrating ability in patients with Jk(a-b-) blood type who lack carrier-mediated urea transport, J. Am. Soc. Nephrol., 1992, 2(12): 1689―1696.[5]Nidal, M., Irshaid, N. I., Eicher, H. H. et al., Novel alleles at the JK blood group locus explain the absence of the erythrocyte urea transporter in European families, Br. J. Heaematol., 2002, 116(2): 445―453.[6]Okubo, Y., Yamaguchi, H., Nagao, N. et al., Heterogeneity of the pheno type JK(a-,b-) found in Japanese, Transfusion, 1986, 26(3): 237―239.[7]Olives, B., Merriman, M., Bailly, P. et al., The molecular basis of the Kidd blood group polymorphism and its lack of association with type 1 diabetes susceptibility, Hum. Mol. Genet., 1997, 6(7): 1017―1020.[8]Fr(o)hlich, O., Macey, R. I., Edwards-Moulds, J. et al., Urea transport deficiency in Jk(ab) erythrocytes, Am. J. Physiol., 1991, 260: C778―C783.[9]Irshaid, N. M., Hustinx, H., Olsson, M. L., A novel molecular basis of the JK(a-b-) phenotype in a Swiss family, Vox. Sanguinis, 2000, 78(suppl 1): O019.[10]Lucien, N., Chiaroni, J., Cartron, J. P. et al., Partial deletion in the JK locus causing a Jk(null ) phenotype, Blood, 2002, 99(3): 1079―1081.[11]Yang, B., Verkman, A. S., Analysis of double knockout mice lacking aquaporin-1 and urea transporter UT-B: Evidence for UT-B facilitated water transport in erythrocytes, J. Biol. Chem., 2002, 277(39): 36782―36786.[12]Van Hoek, A. N., Verkman, A. S., Functional reconstitution of the isolated erythrocyte water channel CHIP28, J

  1. Validation of transcutaneous bilirubin nomogram for identifying neonatal hyperbilirubinemia in healthy Chinese term and late-preterm infants: a multicenter study

    Directory of Open Access Journals (Sweden)

    Zhangbin Yu

    2014-06-01

    Full Text Available OBJECTIVE: to prospectively validate a previously constructed transcutaneous bilirubin (TcB nomogram for identifying severe hyperbilirubinemia in healthy Chinese term and late-preterm infants. METHODS: this was a multicenter study that included 9,174 healthy term and late-preterm infants in eight hospitals of China. TcB measurements were performed using a JM-103 bilirubinometer. TcB values were plotted on a previously developed TcB nomogram, to identify the predictive ability for subsequent significant hyperbilirubinemia. RESULTS: in the present study, 972 neonates (10.6% developed significant hyperbilirubinemia. The 40th percentile of the nomogram could identify all neonates who were at risk of significant hyperbilirubinemia, but with a low positive predictive value (PPV (18.9%. Of the 453 neonates above the 95th percentile, 275 subsequently developed significant hyperbilirubinemia, with a high PPV (60.7%, but with low sensitivity (28.3%. The 75th percentile was highly specific (81.9% and moderately sensitive (79.8%. The area under the curve (AUC for the TcB nomogram was 0.875. CONCLUSIONS: this study validated the previously developed TcB nomogram, which could be used to predict subsequent significant hyperbilirubinemia in healthy Chinese term and late-preterm infants. However, combining TcB nomogram and clinical risk factors could improve the predictive accuracy for severe hyperbilirubinemia, which was not assessed in the study. Further studies are necessary to confirm this combination.

  2. Analysis of MYOC gene mutation in a Chinese glaucoma family with primary open-angle glaucoma and primary congenital glaucoma

    Institute of Scientific and Technical Information of China (English)

    ZHUO Ye-hong; WANG Mei; WEI Yan-tao; HUANG Ya-lin; GE Jian

    2006-01-01

    Background Glaucoma is one of the leading causes of blindness in the world. Primary open-angle glaucoma (POAG) and primary congenital glaucoma (PCG) are subtypes of glaucoma. Myocillin is the first gene identified to be involved in POAG. Recently, myocillin mutation has been found in PCG In this context, we reported a special glaucoma pedigree, which was composed of both PCG and POAG patients, and analyzed the mutation of myocillin in this pedigree.Methods The family was composed of the parents, a son and a daughter. All members of the family underwent the complete ophthalmologic examinations. All coding exons 1-3 and flanking introns of myocilin gene were screened for sequence alterations by polymerase chain reaction and direct DNA sequencing.Results The son was the proband, who was diagnosed as PCG in both eyes. The father was diagnosed as POAG in the right eye, the left eye was still normal. Both the sister and the mother of the proband had normal intraocular pressure without glaucomatous optic disc changes. The mutations in intron 2 of myocilin gene were detected in the family. While the proband and the father were homozygous, the mother and the sister were heterozygous for the mutation.Conclusions Homozygous mutation in intron 2 of myocilin gene is involved in both POAG and PCG. It is suggested that the pathogenesis might be overlapping in POAG and PCG.

  3. The abilities of new anthropometric indices in identifying cardiometabolic abnormalities, and influence of residence area and lifestyle on these anthropometric indices in a Chinese community-dwelling population

    Directory of Open Access Journals (Sweden)

    Fu S

    2014-01-01

    Full Text Available Shihui Fu,1 Leiming Luo,1 Ping Ye,1 Yuan Liu,1 Bing Zhu,1 Yongyi Bai,1 Jie Bai2 1Department of Geriatric Cardiology, 2Department of Clinical Biochemistry, Chinese People's Liberation Army General Hospital, Beijing, People's Republic of China Objective: The study aimed to investigate the prevalence of overweight, obesity, and cardiometabolic abnormalities, the influence of residence area, occupation, and lifestyle on new anthropometric indices, and the relationship between anthropometric indices and cardiometabolic abnormalities in a Chinese community-dwelling population. Methods: The study included 4,868 residents through a large health check-up program in Beijing. Results: Overall obesity existed in 22.2% of men and 28.1% of women. 67.1% of men and 65.2% of women were overweight. 65.99% of men and 65.97% of women had central obesity. Residents of rural areas, manual workers, and smokers had significantly higher anthropometric indices. The power of each anthropometric index varied for identifying different cardiometabolic abnormalities, and the ability of the waist-to-height ratio to identify participants with greater than one or two cardiometabolic abnormalities was optimal. The appropriate cut-off values of all anthropometric indices for cardiometabolic abnormalities were obtained. Conclusion: Overweight is common for both sexes in the People's Republic of China, as are general and central obesity. Residents of rural areas, manual workers, and smokers have significantly higher anthropometric indices. Waist-to-height ratio has the ability to reflect the compound risk of different cardiometabolic abnormalities and the greatest potential to be widely applied in clinical practice. Keywords: anthropometric indices, residence area, lifestyle, cardiometabolic abnormalities, Chinese community-dwelling population

  4. A novel fibrinogen mutation (γ Thr277Arg) causes hereditary hypofibrinogenemia in a Chinese family.

    Science.gov (United States)

    Zhu, Liqing; Wang, Mingshan; Xie, Haixiao; Jin, Yanhui; Yang, Lihong; Xu, Pengfei

    2013-09-01

    Congenital hypofibrinogenemia is a rare disorder caused by heterozygous mutations in one of the three fibrinogen genes--fibrinogen α-chain (FGA), fibrinogen β-chain (FGB) and fibrinogen γ-chain (FGG)--which code for the Aα, Bβ and γ chains, respectively. In this study, we identified a genetic defect in the FGG underlying the hypofibrinogenemia. The proposita had a prolonged blood clotting time (thrombin time 24.5 s, prothrombin time 16.8 s) and a low level of plasma fibrinogen (0.71 g/l by Clauss method and 0.79 g/l by immunoturbidimetry). DNA screening of the whole fibrinogen gene revealed a heterozygous GC mutation at nucleotide 7482 in her FGG gene. Her father and her half-brother are also heterozygous for this mutation. This mutation contributes to Thr277 → Arg in the γ chain of fibrinogen. To the best of our knowledge, this is the first report of such a mutation that is associated with hypofibrinogenemia.

  5. Polymerase chain reaction-single strand conformational polymorphism analysis of rearranged during transfection proto-oncogene in Chinese familial hirschsprung's disease

    Institute of Scientific and Technical Information of China (English)

    Tao Guan; Ji-Cheng Li; Min-Ju Li; Jin-Fa Tou

    2005-01-01

    AIM: To investigate the relationship between mutations of rearranged during transfection (RET) proto-oncogene and Chinese patients with Hirschsprung's disease (HD), and to elucidate the genetic mechanism of familial HD patient at the molecular level.METHODS: Genomic DNA was extracted from venous blood of probands and their relatives in two genealogies.Polymerase chain reaction (PCR) products, which were amplified using specific primers (RET, exons 11, 13, 15and 17), were electrophoresed to analyze the single-strand conformational polymorphism (SSCP) patterns. The positive amplified products were sequenced. Forty-eight sporadic HD patients and 30 normal children were screened for mutations of RET proto-oncogene simultaneously.RESULTS: Three cases with HD in one family were found to have a G heterozygous insertion at nucleotide 18 974 in exon 13 of RET cDNA (18 974insG), which resulted in a frameshift mutation. In another family, a heterozygosity for T to G transition at nucleotide 18 888 in the same exon which resulted in a synonymous mutation of Leu at codon 745 was detected in the proband and his father. Eight RET mutations were confirmed in 48 sporadic HD patients.CONCLUSION: Mutations of RET proto-oncogene may play an important role in the pathogenesis of Chinese patients with HD. Detection of mutated RET proto-oncogene carriers may be used for genetic counseling of potential risk for HD in the affected families.

  6. A novel DFNA36 mutation in TMC1 orthologous to the Beethoven (Bth mouse associated with autosomal dominant hearing loss in a Chinese family.

    Directory of Open Access Journals (Sweden)

    Yali Zhao

    Full Text Available Mutations in the transmembrane channel-like gene 1 (TMC1 can cause both DFNA36 and DFNB7/11 hearing loss. More than thirty DFNB7/11 mutations have been reported, but only three DFNA36 mutations were reported previously. In this study, we found a large Chinese family with 222 family members showing post-lingual, progressive sensorineural hearing loss which were consistent with DFNA36 hearing loss. Auditory brainstem response (ABR test of the youngest patient showed a special result with nearly normal threshold but prolonged latency, decreased amplitude, and the abnormal waveform morphology. Exome sequencing of the proband found four candidate variants in known hearing loss genes. Sanger sequencing in all family members found a novel variant c.1253T>A (p.M418K in TMC1 at DFNA36 that co-segregated with the phenotype. This mutation in TMC1 is orthologous to the mutation found in the hearing loss mouse model named Bth ten years ago. In another 51 Chinese autosomal dominant hearing loss families, we screened the segments containing the dominant mutations of TMC1 and no functional variants were found. TMC1 is expressed in the hair cells in inner ear. Given the already known roles of TMC1 in the mechanotransduction in the cochlea and its expression in inner ear, our results may provide an interesting perspective into its function in inner ear.

  7. Does “Tiger Parenting” Exist? Parenting Profiles of Chinese Americans and Adolescent Developmental Outcomes

    OpenAIRE

    Kim, Su Yeong; Wang, Yijie; Orozco-Lapray, Diana; Shen, Yishan; Murtuza, Mohammed

    2012-01-01

    “Tiger parenting,” as described by Chua (2011), has put parenting in Asian American families in the spotlight. The current study identified parenting profiles in Chinese American families and explored their effects on adolescent adjustment. In a three-wave longitudinal design spanning eight years, from early adolescence to emerging adulthood, adolescents (54% female), fathers and mothers from 444 Chinese American families reported on eight parenting dimensions (e.g., warmth and shaming) and s...

  8. A Comprehensive Analysis of Common and Rare Variants to Identify Adiposity Loci in Hispanic Americans: The IRAS Family Study (IRASFS.

    Directory of Open Access Journals (Sweden)

    Chuan Gao

    Full Text Available Obesity is growing epidemic affecting 35% of adults in the United States. Previous genome-wide association studies (GWAS have identified numerous loci associated with obesity. However, the majority of studies have been completed in Caucasians focusing on total body measures of adiposity. Here we report the results from genome-wide and exome chip association studies focusing on total body measures of adiposity including body mass index (BMI, percent body fat (PBF and measures of fat deposition including waist circumference (WAIST, waist-hip ratio (WHR, subcutaneous adipose tissue (SAT, and visceral adipose tissue (VAT in Hispanic Americans (nmax = 1263 from the Insulin Resistance Atherosclerosis Family Study (IRASFS. Five SNPs from two novel loci attained genome-wide significance (P<5.00x10-8 in IRASFS. A missense SNP in the isocitrate dehydrogenase 1 gene (IDH1 was associated with WAIST (rs34218846, MAF = 6.8%, PDOM = 1.62x10-8. This protein is postulated to play an important role in fat and cholesterol biosynthesis as demonstrated in cell and knock-out animal models. Four correlated intronic SNPs in the Zinc finger, GRF-type containing 1 gene (ZGRF1; SNP rs1471880, MAF = 48.1%, PDOM = 1.00x10-8 were strongly associated with WHR. The exact biological function of ZGRF1 and the connection with adiposity remains unclear. SNPs with p-values less than 5.00x10-6 from IRASFS were selected for replication. Meta-analysis was computed across seven independent Hispanic-American cohorts (nmax = 4156 and the strongest signal was rs1471880 (PDOM = 8.38x10-6 in ZGRF1 with WAIST. In conclusion, a genome-wide and exome chip association study was conducted that identified two novel loci (IDH1 and ZGRF1 associated with adiposity. While replication efforts were inconclusive, when taken together with the known biology, IDH1 and ZGRF1 warrant further evaluation.

  9. A Comprehensive Analysis of Common and Rare Variants to Identify Adiposity Loci in Hispanic Americans: The IRAS Family Study (IRASFS)

    Science.gov (United States)

    Gao, Chuan; Wang, Nan; Guo, Xiuqing; Ziegler, Julie T.; Taylor, Kent D.; Xiang, Anny H.; Hai, Yang; Kridel, Steven J.; Nadler, Jerry L.; Kandeel, Fouad; Raffel, Leslie J.; Chen, Yii-Der I.; Norris, Jill M.; Rotter, Jerome I.; Watanabe, Richard M.; Wagenknecht, Lynne E.; Bowden, Donald W.; Speliotes, Elizabeth K.; Goodarzi, Mark O.; Langefeld, Carl D.; Palmer, Nicholette D.

    2015-01-01

    Obesity is growing epidemic affecting 35% of adults in the United States. Previous genome-wide association studies (GWAS) have identified numerous loci associated with obesity. However, the majority of studies have been completed in Caucasians focusing on total body measures of adiposity. Here we report the results from genome-wide and exome chip association studies focusing on total body measures of adiposity including body mass index (BMI), percent body fat (PBF) and measures of fat deposition including waist circumference (WAIST), waist-hip ratio (WHR), subcutaneous adipose tissue (SAT), and visceral adipose tissue (VAT) in Hispanic Americans (nmax = 1263) from the Insulin Resistance Atherosclerosis Family Study (IRASFS). Five SNPs from two novel loci attained genome-wide significance (P<5.00x10-8) in IRASFS. A missense SNP in the isocitrate dehydrogenase 1 gene (IDH1) was associated with WAIST (rs34218846, MAF = 6.8%, PDOM = 1.62x10-8). This protein is postulated to play an important role in fat and cholesterol biosynthesis as demonstrated in cell and knock-out animal models. Four correlated intronic SNPs in the Zinc finger, GRF-type containing 1 gene (ZGRF1; SNP rs1471880, MAF = 48.1%, PDOM = 1.00x10-8) were strongly associated with WHR. The exact biological function of ZGRF1 and the connection with adiposity remains unclear. SNPs with p-values less than 5.00x10-6 from IRASFS were selected for replication. Meta-analysis was computed across seven independent Hispanic-American cohorts (nmax = 4156) and the strongest signal was rs1471880 (PDOM = 8.38x10-6) in ZGRF1 with WAIST. In conclusion, a genome-wide and exome chip association study was conducted that identified two novel loci (IDH1 and ZGRF1) associated with adiposity. While replication efforts were inconclusive, when taken together with the known biology, IDH1 and ZGRF1 warrant further evaluation. PMID:26599207

  10. The Problems about Human Resources Transmission of Intergeneration among Chinese Family Businesses%我国家族企业人力资源代际传承研究

    Institute of Scientific and Technical Information of China (English)

    汤向东

    2014-01-01

    After Chinese economic development of thirty years ,it is necessary for the successor to take over in their family businesses .However ,there is a contradiction between the two generations of the Chi-nese family businesses ,w hile there are also some problems for the heir in the family business .First of all , the inheritors of family businesses should have a good attitude and active cooperation ;secondly ,it is im-portant for the family businesses carefully selecting and training the successors ;lastly ,it is necessary for the family businesses to establish a corporative structure with better management .Moreover ,it should at-tract professional operation managers from outside .%我国家族企业经过三十年的发展,现在已经到了接班人接班的时候了。但是,我国家族企业两代人之间存在矛盾;家族企业的继承人也存在一些不足。因此,为使家族企业能够顺利交接班,首先,我国家族企业的传承人要有良好的态度及进行积极地配合;其次,要对家族企业的继承人进行精心的挑选和培养;最后,家族企业有必要建立法人治理结构,从人才市场有计划地引入职业经理人。

  11. PERCEPTION OF FAMILY RESPONSIBILITIES FROM THE SYMBOL OF CHINESE CHARACTERS%从汉字符号中感知家庭责任

    Institute of Scientific and Technical Information of China (English)

    陈从志

    2012-01-01

    The family is the basic organizational form in society and building harmonious family and a socialist harmonious society have consistent orientation. Building a harmonious family requires that family members should be reasonable, exhibit their morals and do their duties in accordance with their own identity. The paper interprets the cultural elements the Chinese character symbol contains with a view to helping people to deeply understand the family, thus perceive the qualities family members should possess and comply with the norms and bear their own responsibilities.%家庭是社会的基本组织形式,构建和谐家庭与构建社会主义和谐社会具有目标指向的一致性。构建和谐家庭就需要家庭成员按照自己的身份,明其理,显其德,尽其责。通过诠释汉字符号所蕴含的文化元素,帮助人们深刻地理解家庭,进而感知家庭成员应具备的素质、遵从的规范和肩负的责任。

  12. The Association between GWAS-identified BARD1 Gene SNPs and Neuroblastoma Susceptibility in a Southern Chinese Population.

    Science.gov (United States)

    Zhang, Ruizhong; Zou, Yan; Zhu, Jinhong; Zeng, Xinhao; Yang, Tianyou; Wang, Fenghua; He, Jing; Xia, Huimin

    2016-01-01

    A previous genome-wide association study (GWAS) has found that some common variations in the BARD1 gene were associated with neuroblastoma susceptibility especially for high-risk subjects, and the associations have been validated in Caucasians and African-Americans. However, the associations between BARD1 gene polymorphisms and neuroblastoma susceptibility have not been studied among Asians, not to mention Chinese subjects. In the present study, we investigated the association of three BARD1 polymorphisms (rs7585356 G>A, rs6435862 T>G and rs3768716 A>G) with neuroblastoma susceptibility in 201 neuroblastoma patients and 531 controls using TaqMan methodology. Overall, none of these polymorphisms was significantly associated with neuroblastoma susceptibility. However, stratified analysis showed a more profound association between neuroblastoma risk and rs6435862 TG/GG variant genotypes among older children (adjusted OR=1.55, 95% CI=1.04-2.31), and children with adrenal gland-originated disease (adjusted OR=2.94, 95% CI=1.40-6.18), or with ISSN clinical stages III+IV disease (adjusted OR=1.75, 95% CI=1.09-2.84). Similar results were observed for the variant genotypes of rs3768716 A>G polymorphism among these three subgroups. Our results suggest that the BARD1 rs6435862 T>G and rs3768716 A>G polymorphisms may contribute to increased susceptibility to neuroblastoma, especially for the subjects at age ≥12 months, with adrenal gland-originated or with late clinical stage neuroblastoma. These findings need further validation by prospective studies with larger sample size with subjects enrolled from multicenter, involving different ethnicities. PMID:26941572

  13. A new mutation in the thyroid hormone receptor gene of a Chinese family with resistance to thyroid hormone

    Institute of Scientific and Technical Information of China (English)

    DONG Qian; GONG Chun-xiu; GU Yi; SU Chang

    2011-01-01

    Background Resistance to thyroid hormone (RTH) is a dominant inherited syndrome of reduced tissue responsiveness to thyroid hormone. It is usually due to mutations located at the ligand-binding domain and adjacent hinge region of the thyroid hormone receptor β(TRβ). We report the clinical and laboratory characteristics and the genetic analysis of a patient with this rare disorder and his family members.Methods The clinical presentations and changes of thyroid function tests (TFTs) including magnetic resonance imaging (MRI) of pituitary and other laboratory tests were analysed. TFTs of his family's members were detected as well. Direct DNA sequencing of the TRβ gene was done for those with abnormal TFTs.Results The RTH child had goiter, irritability, aggressiveness, and sudoresis. His TFTs showed high levels of circulating free thyroid hormones (FT4 and FT3) and normal thyroid-stimulating hormone (TSH) concentrations. He felt worse when treated as hyperthyroidism (Grave disease) with thiamazole and his clinical presentations got improved obviously when treated as RTH with bromocriptine without obvious advert effect. We identified a novel missense mutation, A317D, located in exon 9 of the gene of this boy and his mother. His mother had not any clinical presentation, but having abnormal TFTs results.Conclusions This patient reported here was concordant with the criteria of RTH. The feature is dysfunction of hypothalamus-pituitary-thyroid axis. A novel mutation was found in the TRβ, A317D, of this family. This research verified the phenomena that there is a clinical heterogeneity within the same mutation of different RTH patients.

  14. Crossing the Frontier to Inland China: Family Social Capital for Minority Uighur Students in Chinese Boarding Schools

    Science.gov (United States)

    Chen, Yangbin

    2010-01-01

    This paper examines family influences on Uighur (a Muslim ethnic minority in northwestern China) students' experiences in Xinjiang classes in an inland China boarding school. Supported by the concept of family social capital, the paper argues that, although family structure becomes deficient for Uighur students away from home, their families can…

  15. Family-based Genome-wide Association Study of Frontal Theta Oscillations Identifies Potassium Channel Gene KCNJ6

    OpenAIRE

    Kang, Sun J.; Rangaswamy, Madhavi; Manz, Niklas; Wang, Jen-Chyong; Wetherill, Leah; Hinrichs, Tony; Almasy, Laura; Brooks, Andy; Chorlian, David B.; Dick, Danielle; Hesselbrock, Victor; Kramer, John; Kuperman, Sam; Nurnberger, John; Rice, John,

    2012-01-01

    Event-related oscillations (EROs) represent highly heritable neuroelectric correlates of cognitive processes that manifest deficits in alcoholics and in offspring at high risk to develop alcoholism. Theta ERO to targets in the visual oddball task has been shown to be an endophenotype for alcoholism. A family-based genome-wide association study was performed for the frontal theta ERO phenotype using 634583 autosomal single nucleotide polymorphisms (SNPs) genotyped in 1560 family members from 1...

  16. 中国家族企业继任模式研究%A Study on the Succession Pattern for Chinese Family Business

    Institute of Scientific and Technical Information of China (English)

    何莹; 赵曙明; 王德才

    2013-01-01

    Based on the research of family business succession theory,this paper found different kinds of succession pat--terns,that are,children succession,internal succession and professional manager succession.Through the analysis of these patterns,the paper constructs the factors which have influenced Chinese family business to choose their succession pattern. The result shows that Chinese family business should choose the professional manager succession to improve their enterprises in the future.%  文章通过对家族企业继任理论的探究,找出家族企业不同的继任模式。通过对这些继任模式的分析,构建影响中国家族企业选择不同继任模式的因素。结果表明,未来的中国家族企业继任模式主要是所有权与经营权分离、引进职业经理人的道路模式。

  17. Clinical and molecular genetic analysis of a Chinese family with congenital X-linked adrenal hypoplasia caused by novel mutation 1268delA in the DAX-1 gene.

    Science.gov (United States)

    Zhang, Zhe; Feng, Ye; Ye, Dan; Li, Cheng-jiang; Dong, Feng-qin; Tong, Ying

    2015-11-01

    Congenital X-linked adrenal hypoplasia (AHC) is a rare disease characterized by primary adrenal insufficiency before adolescence and by hypogonadotropic hypogonadism (HHG) during adolescence. In this paper, we present a Chinese family with AHC. Two brothers, misdiagnosed with adrenal insufficiency of unknown etiology at the age of 9, were correctly diagnosed with AHC when delayed puberty, HHG, and testicular defects were observed. We investigated the clinical features and identified the dosage-sensitive sex reversal AHC critical region of the X chromosome gene 1 (DAX-1) mutation in this kindred. Direct sequencing of the DAX-1 gene revealed that the two siblings have a novel mutation (1268delA) of which their mother is a heterozygous carrier. This mutation causes a frameshift and a premature stop codon at position 436, encoding a truncated protein. It is important to increase knowledge of the mutational spectrum in genes related to this disease, linking phenotype to genotype. PMID:26537215

  18. Cloning,characterization,and expression analysis of the DEAD-box family genes,Fc-vasa and Fc-PL10a,in Chinese shrimp (Fenneropenaeus chinensis)

    Institute of Scientific and Technical Information of China (English)

    周倩如; 邵明瑜; 秦贞奎; 康庆浩; 张志峰

    2010-01-01

    RNA helicases of the DEAD-box and related families are involved in various cellular processes including DNA replication,DNA repair,and RNA processing.However,the function of DEAD-box proteins in aquaculture species is poorly understood at molecular level.We obtained the full-length cDNA sequences of two genes encoding helicase-related proteins,Fc-vasa and Fc-PL10a,from the testes of Chinese shrimp,Fenneropenaeus chinensis.The two predicted amino acid sequences contain all the conserved motifs characterized ...

  19. A Novel Locus Harbouring a Functional CD164 Nonsense Mutation Identified in a Large Danish Family with Nonsyndromic Hearing Impairment

    DEFF Research Database (Denmark)

    Nyegaard, Mette; Rendtorff, Nanna D.; Nielsen, Morten S.;

    2015-01-01

    Nonsyndromic hearing impairment (NSHI) is a highly heterogeneous condition with more than eighty known causative genes. However, in the clinical setting, a large number of NSHI families have unexplained etiology, suggesting that there are many more genes to be identified. In this study we used SN...

  20. Characterisation of non-obese diabetic patients with marked insulin resistance identifies a novel familial partial lipodystrophy-associated PPAR gamma mutation (Y151C)

    NARCIS (Netherlands)

    Visser, M. E.; Kropman, E.; Kranendonk, M. E.; Koppen, A.; Hamers, N.; Stroes, E. S.; Kalkhoven, E.; Monajemi, H.

    2011-01-01

    Familial partial lipodystrophy (FPLD) is a rare metabolic disorder with clinical features that may not be readily recognised. As FPLD patients require a specific therapeutic approach, early identification is warranted. In the present study we aimed to identify cases of FPLD among non-obese patients

  1. Non-syndromic tooth agenesis in two Chinese families associated with novel missense mutations in the TNF domain of EDA (ectodysplasin A.

    Directory of Open Access Journals (Sweden)

    Shufeng Li

    Full Text Available Here we report two unrelated Chinese families with congenital missing teeth inherited in an X-linked manner. We mapped the affected locus to chromosome Xp11-Xq21 in one family. In the defined region, both families were found to have novel missense mutations in the ectodysplasin-A (EDA gene. The mutation of c.947A>G caused the D316G substitution of the EDA protein. The mutation of c.1013C>T found in the other family resulted in the Thr to Met mutation at position 338 of EDA. The EDA gene has been reported responsible for X-linked hypohidrotic ectodermal dysplasia (XLHED in humans characterized by impaired development of hair, eccrine sweat glands, and teeth. In contrast, all the affected individuals in the two families that we studied here had normal hair and skin. Structural analysis suggests that these two novel mutants may account for the milder phenotype by affecting the stability of EDA trimers. Our results indicate that these novel missense mutations in EDA are associated with the isolated tooth agenesis and provide preliminary explanation for the abnormal clinical phenotype at a molecular structural level.

  2. The Solution of Chinese Family Business Succession%中国家族企业代际传承关键问题研究

    Institute of Scientific and Technical Information of China (English)

    宋沛军

    2011-01-01

    Intergenerational succession of family business is one of the most important strategic decision problems.Looking at Chinese and foreign enterprises on the intergenerational transmission of family patterns,"to inherit from his father" is still the preferred shift in many ways the family business.To this end,parents should let their children get into the business as soon as possible,undertake the important task of business development,practice and competition through timely transmission of family business ownership and management rights,keep the family business continued to grow and life continue,inherit the spiritual heritage,the ideal and culture of the entrepreneur.%代际传承是家族企业最重大的战略决策问题之一。纵观中外关于家族企业代际传承模式,"子承父业"仍是许多家族企业首选的交接班方式。为此,父辈应尽早让子女融入企业,承担企业发展的重任,通过实践和竞争适时传承家族企业所有权和经营管理权,保持家族企业的持续成长与生命延续、传承创业者的精神、理想和文化。

  3. Non-Syndromic Tooth Agenesis in Two Chinese Families Associated with Novel Missense Mutations in the TNF Domain of EDA (Ectodysplasin A)

    Science.gov (United States)

    Dong, Xiangbai; Wang, Zixing; Hu, Qingang; Chen, Meng; Hua, Zi-Chun

    2008-01-01

    Here we report two unrelated Chinese families with congenital missing teeth inherited in an X-linked manner. We mapped the affected locus to chromosome Xp11-Xq21 in one family. In the defined region, both families were found to have novel missense mutations in the ectodysplasin-A (EDA) gene. The mutation of c.947A>G caused the D316G substitution of the EDA protein. The mutation of c.1013C>T found in the other family resulted in the Thr to Met mutation at position 338 of EDA. The EDA gene has been reported responsible for X-linked hypohidrotic ectodermal dysplasia (XLHED) in humans characterized by impaired development of hair, eccrine sweat glands, and teeth. In contrast, all the affected individuals in the two families that we studied here had normal hair and skin. Structural analysis suggests that these two novel mutants may account for the milder phenotype by affecting the stability of EDA trimers. Our results indicate that these novel missense mutations in EDA are associated with the isolated tooth agenesis and provide preliminary explanation for the abnormal clinical phenotype at a molecular structural level. PMID:18545687

  4. Comparison of various anthropometric and body fat indices in identifying cardiometabolic disturbances in Chinese men and women.

    Directory of Open Access Journals (Sweden)

    Zhe-qing Zhang

    Full Text Available BACKGROUND: Although many adiposity indices may be used to predict obesity-related health risks, uncertainty remains over which of them performs best. OBJECTIVE: This study compared the predictive capability of direct and indirect adiposity measures in identifying people at higher risk of metabolic abnormalities. METHODS: This population-based cross-sectional study recruited 2780 women and 1160 men. Body weight and height, waist circumference (WC, and hip circumference (HC were measured and body mass index (BMI, waist-to-hip ratio (WHR, and waist-to-height ratio (WHtR were calculated. Body fat (and percentage of fat over the whole body and the trunk were determined by bioelectrical impedance analysis (BIA. Blood pressure, fasting lipid profiles, and glucose and urine acid levels were assessed. RESULTS: In women, the ROC and the multivariate logistic regression analyses both showed that WHtR consistently had the best performance in identifying hypertension, dyslipidemia, hyperuricemia, diabetes/IFG, and metabolic syndrome (MetS. In men, the ROC analysis showed that WHtR was the best predictor of hypertension, WHtR and WC were equally good predictors of dyslipidemia and MetS, and WHtR was the second-best predictor of hyperuricemia and diabetes/IFG. The multivariate logistic regression also found WHtR to be superior in discriminating between MetS, diabetes/IFG, and dyslipidemia while BMI performed better in predicting hypertension and hyperuricemia in men. The BIA-derived indices were the second-worst predictors for all of the endpoints, and HC was the worst. CONCLUSION: WHtR was the best predictor of various metabolic abnormalities. BMI may be used as an alternative measure of obesity for identifying hypertension in both sexes.

  5. Support and Education of Immigrants with Chronically Ill Children: Identified Needs from a Case Study of Turkish and Kurdish Families

    Science.gov (United States)

    Povlsen, Lene; Karlberg, Ingvar; Ringsberg, Karin C

    2008-01-01

    Objective: The aim of the study was to analyse how parents of Turkish and Turkish/Kurdish children with diabetes and health care professionals perceived the education and support provided, and to assess what was required to improve the collaboration between the families and the team in order to optimize selfcare and metabolic control. Design: A…

  6. Research on expression method of rules in auto-identifying relational word of Chinese compound sentences%复句关系词自动识别中规则的表示方法研究

    Institute of Scientific and Technical Information of China (English)

    胡金柱; 舒江波; 胡泉; 李源; 杨进才; 谢芳

    2016-01-01

    Relational word plays the important role in modern Chinese compound sentence domain, and is the major part in the research of Chinese grammar and semantic. Auto-identifying relational word is a very difficult research problems on Chinese compound sentences. This paper with emphasis studies the expression method of rules in auto-identifying rela-tional word of Chinese compound sentences on the foundation of the research on the restrictions of rules in auto-identifying the relation word of Chinese compound sentences. The goal is to establish the foundation for research on the structure of rulebase of relational words recognizer in Chinese compound sentences, and the foundation of theory and the practice for the computer auto-identifying compound sentence and relational word, even auto-identifying Chinese sentence and paragraph.%关系词在现代汉语复句领域起着重要的作用,是汉语语法、语义研究中的重要内容,复句关系词的计算机自动识别是一个非常困难的研究课题.在汉语复句关系词自动识别中规则的约束条件研究的基础上,重点研究现代汉语复句关系词自动识别系统中规则的表示方法,为进一步研究、建设复句关系词自动识别中的规则库,深入研究规则与统计相结合自动识别复句和复句关系词的方法,为实现汉语句子和篇章的自动识别奠定基础.

  7. Entrepreneurial Knowledge Transfer and Chinese Family Business Succession%创业者知识转移与华人家族企业代际传承

    Institute of Scientific and Technical Information of China (English)

    周任重; 肖丹

    2011-01-01

    基于资源和知识理论的研究认为创业者知识是家族企业战略性资源,如何实现创业者知识的转移是家族企业代际传承中的核心问题.通过构建一个以创业者知识转移为核心的家族企业代际传承模型,试图揭示权利继任过程中创业者知识转移内在机理.在家族企业代际传承过程中,创业者知识转移将通过家族企业发展和剩余控制权两个途径对家族代际财富积累产生重大影响.最后运用该模型框架,对华人家族企业“子承父业”代际传承模式进行简要评论.%Based on resources and knowledge theory, this paper regards the entrepreneurial knowledge as family business' s strategic resource. How to achieve the transfer of entrepreneurial knowledge is a primary issue in the process of family business succession. By building a family business succession model based on entrepreneurial knowledge transfer, this article attempts to reveal the internal mechanism of entrepreneurial knowledge transfer along with the process of family business' s power succession. During the process of family business succession, knowledge transfer puts a significant impact on wealth across generations by two paths-the family business development and the changes of residual control. Finally, according to the above theory framwork, this paper also makes analysis and brief comemets on the Chinese family business succesion model of "son inheriting his father".

  8. Exploring the experiences and perspectives of families using a children's hospice and professionals providing hospice care to identify future research priorities for children's hospice care.

    Science.gov (United States)

    Malcolm, C; Forbat, L; Knighting, K; Kearney, N

    2008-12-01

    The main objective of this study is to generate a list of priority topics for children's hospice care research in Scotland from the perspective of its key stakeholders. The method consists of qualitative semi-structured interviews with families using hospice services (n = 5), four focus groups with hospice staff and volunteers (n = 44) and telephone interviews with professionals associated with the hospice (n = 18). Fourteen broad themes emerged following thematic content and interpretive analysis of the interview data. Some of the research themes were specific to certain stakeholder groups, whereas other themes were identified unanimously across all the stakeholder groups as being priority areas for future research. Increasing awareness of and improving access to children's hospice care, hospice and respite care needs of young people, community/home care and issues related to supporting the wider family arose, independently, in all three stakeholder groups as being priority topics for future research. In conclusion, a greater evidence base is required in the field of children's palliative care and the topics researched should be identified and led by those most closely involved in the hospices. Engaging families and care providers in the process of identifying research priorities resulted in the development of an extensive research agenda, which will contribute to quality hospice care for children and families.

  9. A hybrid approach identifies metabolic signatures of high-producers for chinese hamster ovary clone selection and process optimization.

    Science.gov (United States)

    Popp, Oliver; Müller, Dirk; Didzus, Katharina; Paul, Wolfgang; Lipsmeier, Florian; Kirchner, Florian; Niklas, Jens; Mauch, Klaus; Beaucamp, Nicola

    2016-09-01

    In-depth characterization of high-producer cell lines and bioprocesses is vital to ensure robust and consistent production of recombinant therapeutic proteins in high quantity and quality for clinical applications. This requires applying appropriate methods during bioprocess development to enable meaningful characterization of CHO clones and processes. Here, we present a novel hybrid approach for supporting comprehensive characterization of metabolic clone performance. The approach combines metabolite profiling with multivariate data analysis and fluxomics to enable a data-driven mechanistic analysis of key metabolic traits associated with desired cell phenotypes. We applied the methodology to quantify and compare metabolic performance in a set of 10 recombinant CHO-K1 producer clones and a host cell line. The comprehensive characterization enabled us to derive an extended set of clone performance criteria that not only captured growth and product formation, but also incorporated information on intracellular clone physiology and on metabolic changes during the process. These criteria served to establish a quantitative clone ranking and allowed us to identify metabolic differences between high-producing CHO-K1 clones yielding comparably high product titers. Through multivariate data analysis of the combined metabolite and flux data we uncovered common metabolic traits characteristic of high-producer clones in the screening setup. This included high intracellular rates of glutamine synthesis, low cysteine uptake, reduced excretion of aspartate and glutamate, and low intracellular degradation rates of branched-chain amino acids and of histidine. Finally, the above approach was integrated into a workflow that enables standardized high-content selection of CHO producer clones in a high-throughput fashion. In conclusion, the combination of quantitative metabolite profiling, multivariate data analysis, and mechanistic network model simulations can identify metabolic

  10. A novel mis-sense mutation (G1381A) in the G6PD gene identified in a Chinese man

    Institute of Scientific and Technical Information of China (English)

    任晓琴; 杜传书; 蒋玮莹; 陈路明; 林群娣; 何永蜀

    2001-01-01

    目的对中国云南省29例G6PD缺乏症患者检查新的基因突变型。 方法用NBT法作G6PD缺乏症筛查、SSCP、ACRS和DNA测序鉴定突变。结果29例中发现G1388A18例、C1004A1例、G1381A1例,另外9例未定型。其中1381突变为新的错义 突变。这一突变导致G6PD丙氨酸被苏氨酸置换(A461T),并导致一天然StuI酶切位点的消失,此特点可 用于该突变的鉴定。 结论我们发现一新的错义突变。此突变导致丙氨酸被苏氨酸置换(A461T),且此突变对酶活性降低是 重要的。%Objective To detect new mutations among 29 glucose-6-phosphatedehydrogenase (G6PD) deficient individuals from Yunnan province. Methods The nitroblue tetrazolium (NBT) method was used to screen G6PD deficient individuals. Mutation was identified by single strand conformation polymorphism (SSCP), amplification created restriction site (ACRS), amplification refractory mutation system (ARMS) and DNA sequencing. Results Among 29 cases, 18 cases of G1388A, 1 case of C1004A, and 1 case of G1381A were identified. Nine cases remained to be defined. The G1381A mutation is a novel mis-sense mutation, with a substitution of threonine for alanine (A461T). The resultant G6PD had reduced enzymatic activity. In addition, G1381A caused a restriction site of Stu I to disappear, providing a rapid method for the detection of this mutation. Conclusion A novel mis-sense mutation G1381A was found. This mutation results in a substitution of threonine for alanine, producing enzyme with reduced activity. The loss of the Stu I restriction site offers a rapid method for the detection of this mutation.

  11. Preparing for Chinese New Year.

    Science.gov (United States)

    Lew, Gordon

    This is one of a series of elementary readers written in Cantonese and English, designed to familiarize children with the traditional major Chinese festivals celebrated by the Chinese in America. The booklet follows the activities of a Chinese-American family in its preparations for the Chinese New Year. (CLK)

  12. APOA5 Q97X Mutation Identified through homozygosity mapping causes severe hypertriglyceridemia in a Chilean consanguineous family

    Directory of Open Access Journals (Sweden)

    Dussaillant Catalina

    2012-11-01

    Full Text Available Abstract Background Severe hypertriglyceridemia (HTG has been linked to defects in LPL, APOC2, APOA5, LMF1 and GBIHBP1 genes. However, a number of severe HTG cases are probably caused by as yet unidentified mutations. Very high triglyceride plasma levels (>112 mmol/L at diagnosis were found in two sisters of a Chilean consanguineous family, which is strongly suggestive of a recessive highly penetrant mutation. The aim of this study was to determine the genetic locus responsible for the severe HTG in this family. Methods We carried out a genome-wide linkage study with nearly 300,000 biallelic markers (Illumina Human CytoSNP-12 panel. Using the homozygosity mapping strategy, we searched for chromosome regions with excess of homozygous genotypes in the affected cases compared to non-affected relatives. Results A large homozygous segment was found in the long arm of chromosome 11, with more than 2,500 consecutive homozygous SNP shared by the proband with her affected sister, and containing the APOA5/A4/C3/A1 cluster. Direct sequencing of the APOA5 gene revealed a known homozygous nonsense Q97X mutation (p.Gln97Ter found in both affected sisters but not in non-affected relatives nor in a sample of unrelated controls. Conclusion The Q97X mutation of the APOA5 gene in homozygous status is responsible for the severe hypertriglyceridemia in this family. We have shown that homozygosity mapping correctly pinpointed the genomic region containing the gene responsible for severe hypertriglyceridemia in this consanguineous Chilean family.

  13. Informed consent practices of Chinese nurse researchers.

    Science.gov (United States)

    Olsen, Douglas P; Honghong Wang; Pang, Samantha

    2010-03-01

    Nursing research in China is at an early stage of development and little is known about the practices of Chinese nurse researchers. This interview study carried out at a university in central China explores the informed consent practices of Chinese nurse researchers and the cultural considerations of using a western technique. Nine semistructured interviews were conducted in English with assistance and simultaneous translation from a Chinese nurse with research experience. The interviews were analyzed by one western and two Chinese researchers and major themes were identified. All participants endorsed informed consent as ethically required. Differences were noted between some of the informed consent practices typically recommended in the USA and those identified in this study, such as: recruitment using local and government officials, recruiting directly from medical records without special permission, family consultation in consent and consent control, and not revealing randomization to intervention groups receiving different treatments. PMID:20185442

  14. Clinical and molecular characterization of a novel PLIN1 frameshift mutation identified in patients with familial partial lipodystrophy.

    Science.gov (United States)

    Kozusko, Kristina; Tsang, Venessa H M; Bottomley, William; Cho, Yoon-Hi; Gandotra, Sheetal; Mimmack, Michael; Lim, Koini; Isaac, Iona; Patel, Satish; Saudek, Vladimir; O'Rahilly, Stephen; Srinivasan, Shubha; Greenfield, Jerry R; Barroso, Ines; Campbell, Lesley V; Savage, David B

    2015-01-01

    Perilipin 1 is a lipid droplet coat protein predominantly expressed in adipocytes, where it inhibits basal and facilitates stimulated lipolysis. Loss-of-function mutations in the PLIN1 gene were recently reported in patients with a novel subtype of familial partial lipodystrophy, designated as FPLD4. We now report the identification and characterization of a novel heterozygous frameshift mutation affecting the carboxy-terminus (439fs) of perilipin 1 in two unrelated families. The mutation cosegregated with a similar phenotype including partial lipodystrophy, severe insulin resistance and type 2 diabetes, extreme hypertriglyceridemia, and nonalcoholic fatty liver disease in both families. Poor metabolic control despite maximal medical therapy prompted two patients to undergo bariatric surgery, with remarkably beneficial consequences. Functional studies indicated that expression levels of the mutant protein were lower than wild-type protein, and in stably transfected preadipocytes the mutant protein was associated with smaller lipid droplets. Interestingly, unlike the previously reported 398 and 404 frameshift mutants, this variant binds and stabilizes ABHD5 expression but still fails to inhibit basal lipolysis as effectively as wild-type perilipin 1. Collectively, these findings highlight the physiological need for exquisite regulation of neutral lipid storage within adipocyte lipid droplets, as well as the possible metabolic benefits of bariatric surgery in this serious disease.

  15. Cell-based screening identifies the active ingredients from Traditional Chinese Medicine formula Shixiao San as the inhibitors of atherosclerotic endothelial dysfunction.

    Directory of Open Access Journals (Sweden)

    Xiaofan Wang

    Full Text Available In this study, we performed a phenotypic screening in human endothelial cells exposed to oxidized low density lipoprotein (an in vitro model of atherosclerotic endothelial dysfunction to identify the effective compounds in Shixiao San. After investigating the suitability and reliability of the cell-based screening method using atorvastatin as the positive control drug, this method was applied in screening Shixiao San and its extracts. The treatment of n-butanol fraction on endothelial cells exhibited stronger healing effects against oxidized low density lipoprotein-induced insult when compared with other fractions. Cell viability, the level of nitric oxide, endothelial nitric oxide synthase and endothelin-1 were measured, respectively. The assays revealed n-butanol fraction significantly elevated the survival ratio of impaired cells in culture. In parallel, n-butanol fraction exhibited the highest inhibition of inflammation. The generation of prostaglandin-2 and adhesion molecule (soluble intercellular adhesion molecule-1 was obviously declined. Furthermore, n-butanol fraction suppressed the production of reactive oxygen species and malondialdehyde, and restored the activity of superoxide dismutase. Compounds identification of the n-butanol fraction was carried out by ultra high liquid chromatography coupled to quadrupole time-of-flight tandem mass spectrometry. The active ingredients including quercetin-3-O-(2G-α-l-rhamnosyl-rutinoside, quercetin-3-O-neohesperidoside, isorhamnetin-3-O-neohesperidoside and isorhamnetin-3-O-rutinoside revealed the ability of anti-atherosclerosis after exposing on endothelial cells. The current work illustrated the pharmacology effect of Shixiao San and clearly indicated the major active components in Shixiao San. More importantly, the proposed cell-based screening method might be particularly suitable for fast evaluating the anti-atherosclerosis efficacy of Traditional Chinese Medicines and screening out the

  16. Mutation Analysis of ATP2C1 Gene in Two Chinese Families with Hailey-Hailey Disease%家族性慢性良性天疱疮2家系的基因突变分析

    Institute of Scientific and Technical Information of China (English)

    朱亚刚; 张学军; 杨森

    2012-01-01

    Objective To identify pathogenic mutations of the A TP2C1 gene in two Chinese pedigrees with HHD. Methods The blood samples of two Chinese HHD families and 100 unrelated controls were collected. Ge-nomic DNA was extracted from peripheral blood. All the coding exons and their flanking sequences of ATP1CX were amplified by polymerase chain reaction and products analyzed by direct sequencing. Results We identified two novel heterozygous mutations including one nonsense (p.Q633X) and one frameshift (c.2164 insACAT) in ATP1CX. These two mutations were not found in the healthy members of families and in 100 unrelated control individuals. Conclusion Our data suggests that these two novel mutations in the A TP2CI gene could cause HHD in Chinese Han population and add new variants to the repertoire of A TP1CX mutations in HHD.%目的 检测两个中国家族性慢性良性天疱疮(Hailey-Hailey disease,HHD)家系ATP2C1基因的致病性突变.方法 收集两个中国HHD家系的临床资料和外周血标本,用基因组抽提试剂盒提取外周血DNA,用PCR反应扩增ATP2C1基因的所有外显子编码区及其侧翼序列,然后对扩增产物进行直接测序,并与100例正常对照组进行比较.结果 发现两个新的杂合性突变,包括一个无义突变(p.Q633X)和一个移码突变(c.2164insACAT),这两个突变在家系正常成员和100例正常对照中没有发现.结论 该结果表明这两个ATP2C1基因新突变可能导致中国汉族人HHD的发病,增加了ATP2C1基因突变数据库新的突变位点.

  17. Applying DNA Barcodes to Identify Closely Related Species of Ferns: A Case Study of the Chinese Adiantum (Pteridaceae).

    Science.gov (United States)

    Wang, Fan-Hong; Lu, Jin-Mei; Wen, Jun; Ebihara, Atsushi; Li, De-Zhu

    2016-01-01

    DNA barcoding is a fast-developing technique to identify species by using short and standard DNA sequences. Universal selection of DNA barcodes in ferns remains unresolved. In this study, five plastid regions (rbcL, matK, trnH-psbA, trnL-F and rps4-trnS) and eight nuclear regions (ITS, pgiC, gapC, LEAFY, ITS2, IBR3_2, DET1, and SQD1_1) were screened and evaluated in the fern genus Adiantum from China and neighboring areas. Due to low primer universality (matK) and/or the existence of multiple copies (ITS), the commonly used barcodes matK and ITS were not appropriate for Adiantum. The PCR amplification rate was extremely low in all nuclear genes except for IBR3_2. rbcL had the highest PCR amplification rate (94.33%) and sequencing success rate (90.78%), while trnH-psbA had the highest species identification rate (75%). With the consideration of discriminatory power, cost-efficiency and effort, the two-barcode combination of rbcL+ trnH-psbA seems to be the best choice for barcoding Adiantum, and perhaps basal polypod ferns in general. The nuclear IBR3_2 showed 100% PCR amplification success rate in Adiantum, however, it seemed that only diploid species could acquire clean sequences without cloning. With cloning, IBR3_2 can successfully distinguish cryptic species and hybrid species from their related species. Because hybridization and allopolyploidy are common in ferns, we argue for including a selected group of nuclear loci as barcodes, especially via the next-generation sequencing, as it is much more efficient to obtain single-copy nuclear loci without the cloning procedure.

  18. Identification of a novel mutation in POU3F4 for prenatal diagnosis in a Chinese family with X-linked nonsyndromic hearing loss

    Institute of Scientific and Technical Information of China (English)

    Jianzhong Li; Dongyi Han; Huijun Yuan; Jing Cheng; Yanping Lu; Yu Lu; Aiting Chen; Yi Sun; Dongyang Kang; Xin Zhang; Pu Dai

    2010-01-01

    We present the clinical and genetic findings for a Chinese family with X-linked non-syndromic hearing loss in which the affected males showed congenital profound sensorineural hearing impairment. In two affected brothers, the computer tomography of temporal bone showed bilateral dilation of the internal auditory canal with fistulous communication between the lateral canal and the basal cochlear turn, which is consistent with the typical DFNX2 phenotype. A missense mutation (c.647G→A) in the POU3F4 gene caused a substitution from glycine to glutamic acid at position 216 (p.G216E), and this mutation was found to consistently cosegregate with the deafness phenotype in the family. The mutation resulted in the loss of function of the POU3F4 by decreasing the affinity between the protein and DNA, as shown in silico by the structural analysis. Prenatal diagnosis of pregnant proband of this family revealed the C.647G→A mutation in DNA extracted from the amniotic fluid surrounding the fetus. The appropriate use of genetic testing and prenatal diagnosis plays a key role in reducing the recurrence of genetic defects in high-risk families.

  19. Identifying relevant components to include in a parenting intervention for homeless families in transitional housing: Using parent input to inform adaptation efforts.

    Science.gov (United States)

    Holtrop, Kendal; Chaviano, Casey L; Scott, Jenna C; McNeil Smith, Shardé

    2015-11-01

    Homeless families in transitional housing face a number of distinct challenges, yet there is little research seeking to guide prevention and intervention work with homeless parents. Informed by the tenets of community-based participatory research, the purpose of this study was to identify relevant components to include in a parenting intervention for this population. Data were gathered from 40 homeless parents through semistructured individual interviews and were analyzed using qualitative content analysis. The resulting 15 categories suggest several topics, approach considerations, and activities that can inform parenting intervention work with homeless families in transitional housing. Study findings are discussed within the context of intervention fidelity versus adaptation, and implications for practice, research, and policy are suggested. This study provides important insights for informing parenting intervention adaptation and implementation efforts with homeless families in transitional housing. (PsycINFO Database Record

  20. Wide mutation spectrum and frequent variant Ala27Thr of FBN1 identified in a large cohort of Chinese patients with sporadic TAAD

    Science.gov (United States)

    Guo, Jun; Cai, Lun; Jia, Lixin; Li, Xiaoyan; Xi, Xin; Zheng, Shuai; Liu, Xuxia; Piao, Chunmei; Liu, Tingting; Sun, Zhongsheng; Cai, Tao; Du, Jie

    2015-01-01

    Genetic etiology in majority of patients with sporadic thoracic aortic aneurysm and dissections (STAAD) remains unknown. Recent GWAS study suggested common variant(s) in FBN1 is associated with STAAD. The present study aims to test this hypothesis and to identify mutation spectrum by targeted exome sequencing of the FBN1 gene in 146 unrelated patients with STAAD. Totally, 15.75% of FBN1 variants in STAAD were identified, including 5 disruptive and 18 missense mutations. Most of the variants were novel. Genotype-phenotype correlation analysis suggested that the maximum aortic diameter in the disruptive mutation group was significantly larger than that in the non-Cys missense mutation group. Interestingly, the variant Ala27Thr at −1 position, which is predicted to change the cleavage site of the signal peptidase of fibrillin-1, was detected in two unrelated patients. Furthermore, genotyping analysis of this variant detected 10 heterozygous Ala27Thr from additional 666 unrelated patients (1.50%), versus 7 from 1500 controls (0.47%), indicating a significant association of this variant with STAAD. Collectively, the identification of the variant Ala27Thr may represent a relatively common genetic predisposition and a novel pathogenetic mechanism for STAAD. Also, expansion of the mutation spectrum in FBN1 will be helpful in genetic counselling for Chinese patients with STAAD. PMID:26272055

  1. Representing Divorce, Reforming Interiority: Narratives of Gender, Class and Family in Post-Reform Chinese Literature and Culture

    Science.gov (United States)

    Xiao, Hui

    2009-01-01

    This project stands at the juncture of modern Chinese literature, post-socialist studies, cultural history of divorce, and critical studies about global middle-class cultures. Employing analytical tools mainly from literary studies, cultural studies and feminist theories, I examine stories, novels, films and TV dramas about divorce produced…

  2. Genome-wide sequencing to identify the cause of hereditary cancer syndromes: with examples from familial pancreatic cancer.

    Science.gov (United States)

    Roberts, Nicholas J; Klein, Alison P

    2013-11-01

    Advances in our understanding of the human genome and next-generation technologies have facilitated the use of genome-wide sequencing to decipher the genetic basis of Mendelian disease and hereditary cancer syndromes. However, the application of genome-wide sequencing in hereditary cancer syndromes has had mixed success, in part, due to complex nature of the underlying genetic architecture. In this review we discuss the use of genome-wide sequencing in both Mendelian diseases and hereditary cancer syndromes, highlighting the potential and challenges of this approach using familial pancreatic cancer as an example. PMID:23196058

  3. Whole-exome sequencing identified a homozygous FNBP4 mutation in a family with a condition similar to microphthalmia with limb anomalies.

    Science.gov (United States)

    Kondo, Yukiko; Koshimizu, Eriko; Megarbane, Andre; Hamanoue, Haruka; Okada, Ippei; Nishiyama, Kiyomi; Kodera, Hirofumi; Miyatake, Satoko; Tsurusaki, Yoshinori; Nakashima, Mitsuko; Doi, Hiroshi; Miyake, Noriko; Saitsu, Hirotomo; Matsumoto, Naomichi

    2013-07-01

    Microphthalmia with limb anomalies (MLA), also known as Waardenburg anophthalmia syndrome or ophthalmoacromelic syndrome, is a rare autosomal recessive disorder. Recently, we and others successfully identified SMOC1 as the causative gene for MLA. However, there are several MLA families without SMOC1 abnormality, suggesting locus heterogeneity in MLA. We aimed to identify a pathogenic mutation in one Lebanese family having an MLA-like condition without SMOC1 mutation by whole-exome sequencing (WES) combined with homozygosity mapping. A c.683C>T (p.Thr228Met) in FNBP4 was found as a primary candidate, drawing the attention that FNBP4 and SMOC1 may potentially modulate BMP signaling. PMID:23703728

  4. Strength-based well-being indicators for Indigenous children and families: A literature review of Indigenous communities' identified well-being indicators.

    Science.gov (United States)

    Rountree, Jennifer; Smith, Addie

    2016-01-01

    Mainstream child and family well-being indicators frequently are based on measuring health, economic, and social deficits, and do not reflect Indigenous holistic and strength-based definitions of health and well-being. The present article is a review of literature that features Indigenous communities' self-identified strength-based indicators of child and family well-being. The literature search included Indigenous communities from across the world, incorporating findings from American Indians and Alaska Natives, First Nations, Native Hawaiians, Māori, Aboriginal Australians, and Sámi communities. Sorting the identified indicators into the quadrants of the Relational Worldview, an Indigenous framework for well-being based on medicine wheel teachings that views health and well-being as a balance among physical, mental, contextual, and spiritual factors, the authors discuss the findings. PMID:27383093

  5. Is mitochondrial tRNA(phe variant m.593T>C a synergistically pathogenic mutation in Chinese LHON families with m.11778G>A?

    Directory of Open Access Journals (Sweden)

    A-Mei Zhang

    Full Text Available Mitochondrial transfer RNA (mt-tRNA mutations have been reported to be associated with a variety of diseases. In a previous paper that studied the mtDNA background effect on clinical expression of Leber's hereditary optic neuropathy (LHON in 182 Chinese families with m.11778G>A, we found a strikingly high frequency (7/182 of m.593T>C in the mitochondrially encoded tRNA phenylalanine (MT-TF gene in unrelated LHON patients. To determine the potential role of m.593T>C in LHON, we compared the frequency of this variant in 479 LHON patients with m.11778G>A, 843 patients with clinical features of LHON but without the three known primary mutations, and 2374 Han Chinese from the general populations. The frequency of m.593T>C was higher in LHON patients (14/479 than in suspected LHON subjects (12/843 or in general controls (49/2374, but the difference was not statistically significant. The overall penetrance of LHON in families with both m.11778G>A and m.593T>C (44.6% was also substantially higher than that of families with only m.11778G>A (32.9% (P = 0.083. Secondary structure prediction of the MT-TF gene with the wild type or m.593T>C showed that this nucleotide change decreases the free energy. Electrophoretic mobility of the MT-TF genes with the wild type or m.593T>C transcribed in vitro further confirmed the change of secondary structure in the presence of this variant. Although our results could suggest a modest synergistic effect of variant m.593T>C on the LHON causing mutation m.11778G>A, the lack of statistical significance probably due to the relatively small sample size analyzed, makes necessary more studies to confirm this effect.

  6. Is mitochondrial tRNA(phe) variant m.593T>C a synergistically pathogenic mutation in Chinese LHON families with m.11778G>A?

    Science.gov (United States)

    Zhang, A-Mei; Bandelt, Hans-Jürgen; Jia, Xiaoyun; Zhang, Wen; Li, Shiqiang; Yu, Dandan; Wang, Dong; Zhuang, Xin-Ying; Zhang, Qingjiong; Yao, Yong-Gang

    2011-01-01

    Mitochondrial transfer RNA (mt-tRNA) mutations have been reported to be associated with a variety of diseases. In a previous paper that studied the mtDNA background effect on clinical expression of Leber's hereditary optic neuropathy (LHON) in 182 Chinese families with m.11778G>A, we found a strikingly high frequency (7/182) of m.593T>C in the mitochondrially encoded tRNA phenylalanine (MT-TF) gene in unrelated LHON patients. To determine the potential role of m.593T>C in LHON, we compared the frequency of this variant in 479 LHON patients with m.11778G>A, 843 patients with clinical features of LHON but without the three known primary mutations, and 2374 Han Chinese from the general populations. The frequency of m.593T>C was higher in LHON patients (14/479) than in suspected LHON subjects (12/843) or in general controls (49/2374), but the difference was not statistically significant. The overall penetrance of LHON in families with both m.11778G>A and m.593T>C (44.6%) was also substantially higher than that of families with only m.11778G>A (32.9%) (P = 0.083). Secondary structure prediction of the MT-TF gene with the wild type or m.593T>C showed that this nucleotide change decreases the free energy. Electrophoretic mobility of the MT-TF genes with the wild type or m.593T>C transcribed in vitro further confirmed the change of secondary structure in the presence of this variant. Although our results could suggest a modest synergistic effect of variant m.593T>C on the LHON causing mutation m.11778G>A, the lack of statistical significance probably due to the relatively small sample size analyzed, makes necessary more studies to confirm this effect.

  7. 中国特色的和谐婚姻家庭建设道路%On Construction Road for Harmonious Marriage and Family of Chinese Characteristics

    Institute of Scientific and Technical Information of China (English)

    汤亮

    2011-01-01

    家庭是社会的重要组成部分,和谐社会的构建,离不开家庭这个社会的基本单位。因此,如何走中国特色的和谐婚姻家庭建设道路便成了现阶段值得我们认真探讨的重要问题之一。从构建和谐婚姻家庭的角度研究可知,离婚率的攀升、教育子女的方式不当、街坊邻里关系疏远及有缺陷的生活方式等都是影响婚姻家庭和谐的因素;促进经济发展、保护妇女儿童的合法权益、减少和预防家庭暴力、促进家庭邻里关系的和谐及加强对未成年人的教育等都是中国特色的和谐婚姻家庭的建设道路。%The family is an important part of society,and to build harmonious society,the family can not do without the basic unit of society.Therefore,how to take the Chinese characteristics of the road of building a harmonious marriage and family at this stage has become an important issues which worthy of our serious discussion.In this paper,from building a harmonious marriage and family perspective,we discusses the importance of building a harmonious marriage and family,and point out that family harmony is the basis for a harmonious society as well as an important component of a harmonious society.The rising divorce rate,the way the education of children seriously wrong,estranged neighbors and the factors of faulty lifestyle that affect marriage and family harmony.Put forward by promoting economic development,protection of legitimate rights and interests of women and children,reduce and prevention domestic violence and promoting harmonious relations between family neighborhood and strengthen the education of children,etc.for build a harmonious family.

  8. Mutation analysis of ATP2C1 gene in Chinese families with Hailey-Hailey disease%家族性良性天疱疮患者ATP2C1基因突变研究

    Institute of Scientific and Technical Information of China (English)

    罗素菊; 李晓莉; 刘原君; 倪海洋; 李燕; 刘全忠

    2012-01-01

    Objective To detect the mutations in ATP2C1 gene in 3 Chinese Hailey-Hailey-disease (HHD) families and 1 sporadic HHD patient.Methods Three Chinese HHD families and 1 sporadic HHD patient were recruited into this study with informed consent.Blood samples were taken from the patients with HHD,unaffected individuals in the HHD families and 100 unrelated normal human controls.Genomic DNA was extracted from these blood samples.All the exons and exon-intron boundaries of the ATP2C1 gene were amplified by PCR followed by direct sequencing via dye-termination chemistry.Results Three novel missense mutations in ATP2C1 gene were identified,including a 2048 G→A mutation in exon 20 causing the substitution of arginine by lysine at position 619 in the patients from HHD family 1,853A→C mutation in exon 8 causing the substitution of threonine by proline at position 221 in the patients from family 2,and 2323T→C mutation in exon 23 causing the substitution of tyrosine by histidine at position 711.None of these mutations were found in patients from the HHD family 3,unaffected individuals from the HHD family 1 and 2,or the unrelated normal human controls.Conclusion Three novel missense mutations are identified in the ATP2C 1 gene of patients with HHD.%目的 探讨3个家族性良性天疱疮家系和1例散发患者的ATP2C1基因突变.方法 采取家系中患病成员外周血,应用外周血细胞DNA抽提、PCR扩增和DNA直接测序等方法检测ATP2C1基因突变情况,用反向测序验证突变,用100例无血缘关系个体作正常人对照.结果 在2个家族性良性天疱疮家系和1例散发患者中发现3个未曾报道的错义突变.家系1第20外显子2048位碱基G→A,导致错义突变R619K;家系2第8外显子853位碱基A→C,导致错义突变T221P;散发患者第23外显子2323位碱基T→C,导致错义突变Y711H.家系中非患病成员和100例无血缘关系正常人均未发现这些改变.在1个家族性良性天疱疮家系未

  9. A novel permutation test for case-only analysis identifies epistatic effects on human longevity in the FOXO gene family

    DEFF Research Database (Denmark)

    Tan, Qihua; Sørensen, Mette; Kruse, Torben A;

    2013-01-01

    Genetic interactions or epistasis could make a substantial contribution to variation in human complex traits including longevity. However, detecting epistatic interactions in high dimensional datasets is difficult due to various reasons including multiple testing of correlated tests. We introduce a...... novel permutation strategy to the case-only analysis of gene by gene interaction using multiple SNPs. The method is applied to genes coding for Forkhead box O transcription factors which recently have been associated with human longevity across different populations hypothesizing that epistatic...... interaction in the regulation and expression of the FOXO gene family could contribute to the human longevity phenotype. Genotype data was collected from 1088 individuals from the Danish 1905 birth cohort aged over 92/93 years with 12 SNPs in the FOXO1a and 15 SNPs in the FOXO3a genes. Our analysis detected a...

  10. Mutation analysis of the WFS1 gene in seven Danish Wolfram syndrome families; four new mutations identified

    DEFF Research Database (Denmark)

    Hansen, Lars; Eiberg, Hans Rudolf Lytchoff; Barrett, Timothy;

    2005-01-01

    Wolfram syndrome (WS) is a neuro-degenerative autosomal recessive (AR) disorder (OMIM #222300) caused by mutations in the WFS1 gene on 4p16.1. More than 120 mutations have been identified in WFS1 associated with AR WS, as well as autosomal dominant nonsyndromic low-frequency sensorineural hearing...

  11. Characteristics of PCR-SSCP and RAPD-HPCE methods for identifying authentication of Penis et testis cervi in Traditional Chinese Medicine based on cytochrome b gene.

    Science.gov (United States)

    Li, Mingcheng; Gao, Lijun; Qu, Li; Sun, Jingyu; Yuan, Guangxin; Xia, Wei; Niu, Jiamu; Fu, Guilian; Zhang, Lihua

    2016-07-01

    The use of Penis et testis cervi, as a kind of precious Traditional Chinese Medicine (TCM), which is derived from dry deer's testis and penis, has been recorded for many years in China. There are abundant species of deer in China, the Penis et testis from species of Cervus Nippon and Cervus elaphusL were authentic, others species were defined as adulterant (different subspecies of deer) or counterfeits (different species). Identification of their origins or authenticity becomes a key in controlling the herbal products. A modified column chromatography was used to extract mitochondrial DNA of dried deer's testis and penis from sika deer (C. Nippon) and red deer (C. elaphusL) in addition to adulterants and counterfeits. Column chromatography requires for a short time to extract mitochondrial DNA of high purity with little damage of DNA molecules, which provides the primary structure of guarantee for the specific PCR; PCR-SSCP method showed a clear intra-specific difference among patterns of single-chain fragments, and completely differentiate Penis et testis origins from C. Nippon and C. elaphusL. RAPD-HPCE was based on the standard electropherograms to compute a control spectrum curve as similarity reference (R) among different samples. The similarity analysis indicated that there were significant inter-species differences among Penis et testis' adulterant or counterfeits. Both techniques provide a fast, simple, and accurate way to directly identify among inter-species or intra-species of Penis et testis.

  12. Characteristics of PCR-SSCP and RAPD-HPCE methods for identifying authentication of Penis et testis cervi in Traditional Chinese Medicine based on cytochrome b gene.

    Science.gov (United States)

    Li, Mingcheng; Gao, Lijun; Qu, Li; Sun, Jingyu; Yuan, Guangxin; Xia, Wei; Niu, Jiamu; Fu, Guilian; Zhang, Lihua

    2016-07-01

    The use of Penis et testis cervi, as a kind of precious Traditional Chinese Medicine (TCM), which is derived from dry deer's testis and penis, has been recorded for many years in China. There are abundant species of deer in China, the Penis et testis from species of Cervus Nippon and Cervus elaphusL were authentic, others species were defined as adulterant (different subspecies of deer) or counterfeits (different species). Identification of their origins or authenticity becomes a key in controlling the herbal products. A modified column chromatography was used to extract mitochondrial DNA of dried deer's testis and penis from sika deer (C. Nippon) and red deer (C. elaphusL) in addition to adulterants and counterfeits. Column chromatography requires for a short time to extract mitochondrial DNA of high purity with little damage of DNA molecules, which provides the primary structure of guarantee for the specific PCR; PCR-SSCP method showed a clear intra-specific difference among patterns of single-chain fragments, and completely differentiate Penis et testis origins from C. Nippon and C. elaphusL. RAPD-HPCE was based on the standard electropherograms to compute a control spectrum curve as similarity reference (R) among different samples. The similarity analysis indicated that there were significant inter-species differences among Penis et testis' adulterant or counterfeits. Both techniques provide a fast, simple, and accurate way to directly identify among inter-species or intra-species of Penis et testis. PMID:26309015

  13. Genome-Wide Identification and Analysis of the VQ Motif-Containing Protein Family in Chinese Cabbage (Brassica rapa L. ssp. Pekinensis).

    Science.gov (United States)

    Zhang, Gaoyuan; Wang, Fengde; Li, Jingjuan; Ding, Qian; Zhang, Yihui; Li, Huayin; Zhang, Jiannong; Gao, Jianwei

    2015-01-01

    Previous studies have showed that the VQ motif-containing proteins in Arabidopsis thaliana and Oryza sativa play an important role in plant growth, development, and stress responses. However, little is known about the functions of the VQ genes in Brassica rapa (Chinese cabbage). In this study, we performed genome-wide identification, characterization, and expression analysis of the VQ genes in Chinese cabbage, especially under adverse environment. We identified 57 VQ genes and classified them into seven subgroups (I-VII), which were dispersedly distributed on chromosomes 1 to 10. The expansion of these genes mainly contributed to segmental and tandem duplication. Fifty-four VQ genes contained no introns and 50 VQ proteins were less than 300 amino acids in length. Quantitative real-time PCR showed that the VQ genes were differentially expressed in various tissues and during different abiotic stresses and plant hormone treatments. This study provides a comprehensive overview of Chinese cabbage VQ genes and will benefit the molecular breeding for resistance to stresses and disease, as well as further studies on the biological functions of the VQ proteins. PMID:26633387

  14. The mitochondrial tRNA(Thr) A15951G mutation may influence the phenotypic expression of the LHON-associated ND4 G11778A mutation in a Chinese family.

    Science.gov (United States)

    Li, Ronghua; Qu, Jia; Zhou, Xiangtian; Tong, Yi; Hu, Yongwu; Qian, Yaping; Lu, Fan; Mo, Jun Qin; West, Constance E; Guan, Min-Xin

    2006-07-01

    We report here the characterization of a three-generation Han Chinese family with Leber's hereditary optic neuropathy (LHON). This Chinese family exhibited high penetrance and expressivity of visual impairment. The average age-of-onset was 19 years in this family. All male and 33% female matrilineal relatives in this Chinese family developed visual loss with a wide range of severity, ranging from blindness to normal vision. Sequence analysis of the complete mitochondrial DNA in this pedigree revealed the presence of the ND4 G11778A mutation and 40 other variants, belonging to the Asian haplogroup D4. The G11778A mutation is present at homoplasmy in matrilineal relatives of this Chinese family. Of other variants, the homoplasmic A15951G mutation is of special interest as it is located adjacent to 3' end, at conventional position 71 of tRNA(Thr). The adenine (A71) at this position of tRNA(Thr), highly conserved from bacteria to human mitochondria, has been implicated to be important for tRNA identity and pre-tRNA processing. In fact, the significant reduction of the steady-state levels in tRNA(Thr) was observed in cells carrying both the A15951G and G11778A mutations but not cells carrying only G11778A mutation. Thus, the A15951G mutation most probably leads to a failure in mitochondrial tRNA metabolism, worsening the mitochondrial dysfunction associated with the primary G11778A mutation. These imply that the tRNA(Thr) A15951G mutation may have a potential modifier role in increasing the penetrance and expressivity of the primary LHON-associated G11778A mutation in this Chinese family.

  15. Familial young-onset diabetes, pre-diabetes and cardiovascular disease are associated with genetic variants of DACH1 in Chinese.

    Directory of Open Access Journals (Sweden)

    Ronald Ching Wan Ma

    Full Text Available In Asia, young-onset type 2 diabetes (YOD is characterized by obesity and increased risk for cardiovascular disease (CVD. In a genome-wide association study (GWAS of 99 Chinese obese subjects with familial YOD diagnosed before 40-year-old and 101 controls, the T allele of rs1408888 in intron 1 of DACH1(Dachshund homolog 1 was associated with an odds ratio (OR of 2.49(95% confidence intervals:1.57-3.96, P = 8.4 × 10(-5. Amongst these subjects, we found reduced expression of DACH1 in peripheral blood mononuclear cells (PBMC from 63 cases compared to 65 controls (P = 0.02. In a random cohort of 1468 cases and 1485 controls, amongst top 19 SNPs from GWAS, rs1408888 was associated with type 2 diabetes with a global P value of 0.0176 and confirmation in a multiethnic Asian case-control cohort (7370/7802 with an OR of 1.07(1.02-1.12, P(meta  = 0.012. In 599 Chinese non-diabetic subjects, rs1408888 was linearly associated with systolic blood pressure and insulin resistance. In a case-control cohort (n = 953/953, rs1408888 was associated with an OR of 1.54(1.07-2.22, P = 0.019 for CVD in type 2 diabetes. In an autopsy series of 173 non-diabetic cases, TT genotype of rs1408888 was associated with an OR of 3.31(1.19-9.19, P = 0.0214 and 3.27(1.25-11.07, P = 0.0184 for coronary heart disease (CHD and coronary arteriosclerosis. Bioinformatics analysis revealed that rs1408888 lies within regulatory elements of DACH1 implicated in islet development and insulin secretion. The T allele of rs1408888 of DACH1 was associated with YOD, prediabetes and CVD in Chinese.

  16. miRConnect: Identifying Effector Genes of miRNAs and miRNA Families in Cancer Cells

    DEFF Research Database (Denmark)

    Hua, Youjia; Duan, Shiwei; Murmann, Andrea E;

    2011-01-01

    micro(mi)RNAs are small non-coding RNAs that negatively regulate expression of most mRNAs. They are powerful regulators of various differentiation stages, and the expression of genes that either negatively or positively correlate with expressed miRNAs is expected to hold information on the biolog......micro(mi)RNAs are small non-coding RNAs that negatively regulate expression of most mRNAs. They are powerful regulators of various differentiation stages, and the expression of genes that either negatively or positively correlate with expressed miRNAs is expected to hold information...... have generated custom data sets containing expression information of 54 miRNA families sharing the same seed match. We have developed a novel strategy for correlating miRNAs with individual genes based on a summed Pearson Correlation Coefficient (sPCC) that mimics an in silico titration experiment....... By focusing on the genes that correlate with the expression of miRNAs without necessarily being direct targets of miRNAs, we have clustered miRNAs into different functional groups. This has resulted in the identification of three novel miRNAs that are linked to the epithelial-to-mesenchymal transition (EMT...

  17. Whole-Exome Sequencing Identifies Homozygous GPR161 Mutation in a Family with Pituitary Stalk Interruption Syndrome

    Science.gov (United States)

    Karaca, Ender; Buyukkaya, Ramazan; Pehlivan, Davut; Charng, Wu-Lin; Yaykasli, Kursat O.; Bayram, Yavuz; Gambin, Tomasz; Withers, Marjorie; Atik, Mehmed M.; Arslanoglu, Ilknur; Bolu, Semih; Erdin, Serkan; Buyukkaya, Ayla; Yaykasli, Emine; Jhangiani, Shalini N.; Muzny, Donna M.; Gibbs, Richard A.

    2015-01-01

    Context: Pituitary stalk interruption syndrome (PSIS) is a rare, congenital anomaly of the pituitary gland characterized by pituitary gland insufficiency, thin or discontinuous pituitary stalk, anterior pituitary hypoplasia, and ectopic positioning of the posterior pituitary gland (neurohypophysis). The clinical presentation of patients with PSIS varies from isolated growth hormone (GH) deficiency to combined pituitary insufficiency and accompanying extrapituitary findings. Mutations in HESX1, LHX4, OTX2, SOX3, and PROKR2 have been associated with PSIS in less than 5% of cases; thus, the underlying genetic etiology for the vast majority of cases remains to be determined. Objective: We applied whole-exome sequencing (WES) to a consanguineous family with two affected siblings who have pituitary gland insufficiency and radiographic findings of hypoplastic (thin) pituitary gland, empty sella, ectopic neurohypophysis, and interrupted pitiutary stalk—characteristic clinical diagnostic findings of PSIS. Design and Participants: WES was applied to two affected and one unaffected siblings. Results: WES of two affected and one unaffected sibling revealed a unique homozygous missense mutation in GPR161, which encodes the orphan G protein–coupled receptor 161, a protein responsible for transducing extracellular signals across the plasma membrane into the cell. Conclusion: Mutations of GPR161 may be implicated as a potential novel cause of PSIS. PMID:25322266

  18. Investigation of a Possible Role for the Histidine Decarboxylase Gene in Tourette Syndrome in the Chinese Han Population: A Family-Based Study

    Science.gov (United States)

    Liu, Meixin; Xu, Longqiang; Li, Qiang; Zhang, Ru; Zhang, Xin; Liu, Shiguo

    2016-01-01

    Tourette syndrome (TS) is a polygenic neuropsychiatric disease. Previous studies have indicated that dysregulation in the histaminergic system may play a crucial role in disease onset. In this study, we investigated the role of the histidine decarboxylase gene (HDC) in TS susceptibility in the Chinese Han population. After genotyping 241 TS nuclear families trios, we analyzed three tag HDC single nucleotide polymorphisms (rs854150, rs854151, and rs854157) in a family-based study using the transmission disequilibrium test (TDT) and haplotype relative risk (HRR). TDT showed no over-transmission in these SNPs across the HDC region (for rs854150: χ2 = 0.472, P = 0.537, OR = 1.097, 95%CI = 0.738–1.630; for rs854151: χ2 = 0.043, P = 0.889, OR = 1.145, 95%CI = 0.767–1.709; for rs854157:χ2 = 0.984, P = 0.367, OR = 1.020, 95%CI = 0.508–2.049). HRR also showed the same tendency (for rs854150: χ2 = 0.211, P = 0.646, OR = 1.088, 95%CI = 0.759–1.559; for rs854151: χ2 = 0.134, P = 0.714, OR = 0.935, 95%CI = 0.653–1.339; for rs854157:χ2 = 0.841, P = 0.359, OR = 1.206, 95%CI = 0.808–1.799). Additionally, the haplotype-based haplotype relative risk showed a negative association. Although these findings indicate an unlikely association between HDC and TS in the Chinese Han population, a potential role for HDC cannot be ruled out in TS etiology. Future research should investigate this more thoroughly using different populations and larger samples. PMID:27529419

  19. How Chinese Legal Practice Deal with the Family%法律实践如何面对“家庭”?

    Institute of Scientific and Technical Information of China (English)

    方乐

    2011-01-01

    On the issues of family ethics and affection,the transitional Chinese legal practice adopt some active and scattered measures.The active and confused logic of legal practice reflects not only the complexity of Chinese family problem,but also lacking a uni%转型中国的法律实践在处理有关家庭伦理与亲情的问题上,采用了一些积极而又零散的做法。这种能动而混乱的实践逻辑,既表明转型中国家庭问题的复杂性,也反映出转型中国的法律实践还缺少一个统一的家庭法哲学来指导。实际上,不仅家庭伦理和道德是法律伦理与精神的来源,而且家庭关系与家庭秩序也是社会关系和秩序的根本;更重要的,家庭能力还是国家整体能力的基石。因此,在社会转型、全球化以及大国崛起的整体背景下,当下中国的法律实践,就不仅必须要为中国家庭的战略地位进行重新定位,而且也必须要为家庭功能的重塑与家庭的重建提供各方面的支

  20. Mango (Mangifera indica L.) cv. Kent fruit mesocarp de novo transcriptome assembly identifies gene families important for ripening.

    Science.gov (United States)

    Dautt-Castro, Mitzuko; Ochoa-Leyva, Adrian; Contreras-Vergara, Carmen A; Pacheco-Sanchez, Magda A; Casas-Flores, Sergio; Sanchez-Flores, Alejandro; Kuhn, David N; Islas-Osuna, Maria A

    2015-01-01

    Fruit ripening is a physiological and biochemical process genetically programmed to regulate fruit quality parameters like firmness, flavor, odor and color, as well as production of ethylene in climacteric fruit. In this study, a transcriptomic analysis of mango (Mangifera indica L.) mesocarp cv. "Kent" was done to identify key genes associated with fruit ripening. Using the Illumina sequencing platform, 67,682,269 clean reads were obtained and a transcriptome of 4.8 Gb. A total of 33,142 coding sequences were predicted and after functional annotation, 25,154 protein sequences were assigned with a product according to Swiss-Prot database and 32,560 according to non-redundant database. Differential expression analysis identified 2,306 genes with significant differences in expression between mature-green and ripe mango [1,178 up-regulated and 1,128 down-regulated (FDR ≤ 0.05)]. The expression of 10 genes evaluated by both qRT-PCR and RNA-seq data was highly correlated (R = 0.97), validating the differential expression data from RNA-seq alone. Gene Ontology enrichment analysis, showed significantly represented terms associated to fruit ripening like "cell wall," "carbohydrate catabolic process" and "starch and sucrose metabolic process" among others. Mango genes were assigned to 327 metabolic pathways according to Kyoto Encyclopedia of Genes and Genomes database, among them those involved in fruit ripening such as plant hormone signal transduction, starch and sucrose metabolism, galactose metabolism, terpenoid backbone, and carotenoid biosynthesis. This study provides a mango transcriptome that will be very helpful to identify genes for expression studies in early and late flowering mangos during fruit ripening. PMID:25741352

  1. Mango (Mangifera indica L. cv. Kent fruit mesocarp de novo transcriptome assembly identifies gene families important for ripening

    Directory of Open Access Journals (Sweden)

    Mitzuko eDautt-Castro

    2015-02-01

    Full Text Available Fruit ripening is a physiological and biochemical process genetically programmed to regulate fruit quality parameters like firmness, flavor, odor and color, as well as production of ethylene in climacteric fruit. In this study, a transcriptomic analysis of mango (Mangifera indica L. mesocarp cv. Kent was done to identify key genes associated with fruit ripening. Using the Illumina sequencing platform, 67,682,269 clean reads were obtained and a transcriptome of 4.8 Gb. A total of 33,142 coding sequences were predicted and after functional annotation, 25,154 protein sequences were assigned with a product according to Swiss-Prot database and 32,560 according to non-redundant database. Differential expression analysis identified 2,306 genes with significant differences in expression between mature-green and ripe mango (1,178 up-regulated and 1,128 down-regulated (FDR≤0.05. The expression of ten genes evaluated by both qRT-PCR and RNA-seq data was highly correlated (R=0.97, validating the differential expression data from RNA-seq alone. Gene Ontology enrichment analysis, showed significantly represented terms associated to fruit ripening like cell wall, carbohydrate catabolic process and starch and sucrose metabolic process among others. Mango genes were assigned to 327 metabolic pathways according to Kyoto Encyclopedia of Genes and Genomes database, among them those involved in fruit ripening such as plant hormone signal transduction, starch and sucrose metabolism, galactose metabolism, terpenoid backbone and carotenoid biosynthesis. This study provides a mango transcriptome that will be very helpful to identify genes for expression studies in early and late flowering mangos during fruit ripening.

  2. Mango (Mangifera indica L.) cv. Kent fruit mesocarp de novo transcriptome assembly identifies gene families important for ripening

    OpenAIRE

    Dautt-Castro, Mitzuko; Ochoa-Leyva, Adrian; Contreras-Vergara, Carmen A.; Pacheco-Sanchez, Magda A.; Casas-Flores, Sergio; Sanchez-Flores, Alejandro; David N Kuhn; Islas-Osuna, Maria A.

    2015-01-01

    Fruit ripening is a physiological and biochemical process genetically programmed to regulate fruit quality parameters like firmness, flavor, odor and color, as well as production of ethylene in climacteric fruit. In this study, a transcriptomic analysis of mango (Mangifera indica L.) mesocarp cv. “Kent” was done to identify key genes associated with fruit ripening. Using the Illumina sequencing platform, 67,682,269 clean reads were obtained and a transcriptome of 4.8 Gb. A total of 33,142 cod...

  3. The Role of Depressive Symptoms, Family Invalidation and Behavioral Impulsivity in the Occurrence and Repetition of Non-Suicidal Self-Injury in Chinese Adolescents: A 2-Year Follow-Up Study

    Science.gov (United States)

    You, Jianing; Leung, Freedom

    2012-01-01

    This study used zero-inflated poisson regression analysis to examine the role of depressive symptoms, family invalidation, and behavioral impulsivity in the occurrence and repetition of non-suicidal self-injury among Chinese community adolescents over a 2-year period. Participants, 4782 high school students, were assessed twice during the…

  4. Genome-wide association study for colorectal cancer identifies risk polymorphisms in German familial cases and implicates MAPK signalling pathways in disease susceptibility.

    Science.gov (United States)

    Lascorz, Jesús; Försti, Asta; Chen, Bowang; Buch, Stephan; Steinke, Verena; Rahner, Nils; Holinski-Feder, Elke; Morak, Monika; Schackert, Hans K; Görgens, Heike; Schulmann, Karsten; Goecke, Timm; Kloor, Matthias; Engel, Cristoph; Büttner, Reinhard; Kunkel, Nelli; Weires, Marianne; Hoffmeister, Michael; Pardini, Barbara; Naccarati, Alessio; Vodickova, Ludmila; Novotny, Jan; Schreiber, Stefan; Krawczak, Michael; Bröring, Clemens D; Völzke, Henry; Schafmayer, Clemens; Vodicka, Pavel; Chang-Claude, Jenny; Brenner, Hermann; Burwinkel, Barbara; Propping, Peter; Hampe, Jochen; Hemminki, Kari

    2010-09-01

    Genetic susceptibility accounts for approximately 35% of all colorectal cancer (CRC). Ten common low-risk variants contributing to CRC risk have been identified through genome-wide association studies (GWASs). In our GWAS, 610 664 genotyped single-nucleotide polymorphisms (SNPs) passed the quality control filtering in 371 German familial CRC patients and 1263 controls, and replication studies were conducted in four additional case-control sets (4915 cases and 5607 controls). Known risk loci at 8q24.21 and 11q23 were confirmed, and a previously unreported association, rs12701937, located between the genes GLI3 (GLI family zinc finger 3) and INHBA (inhibin, beta A) [P = 1.1 x 10(-3), odds ratio (OR) 1.14, 95% confidence interval (CI) 1.05-1.23, dominant model in the combined cohort], was identified. The association was stronger in familial cases compared with unselected cases (P = 2.0 x 10(-4), OR 1.36, 95% CI 1.16-1.60, dominant model). Two other unreported SNPs, rs6038071, 40 kb upstream of CSNK2A1 (casein kinase 2, alpha 1 polypeptide) and an intronic marker in MYO3A (myosin IIIA), rs11014993, associated with CRC only in the familial CRC cases (P = 2.5 x 10(-3), recessive model, and P = 2.7 x 10(-4), dominant model). Three software tools successfully pointed to the overrepresentation of genes related to the mitogen-activated protein kinase (MAPK) signalling pathways among the 1340 most strongly associated markers from the GWAS (allelic P value genes involved in MAPK signalling events (P(trend) = 2.2 x 10(-16), OR(per allele) = 1.34, 95% CI 1.11-1.61).

  5. A novel mutation in the MITF may be digenic with GJB2 mutations in a large Chinese family of Waardenburg syndrome type Ⅱ

    Institute of Scientific and Technical Information of China (English)

    Xukun Yan; Tianyu Zhang; Zhengmin Wang; Yi Jiang; Yan Chen; Hongyan Wang; Duan Ma; Lei Wang; Huawei Li

    2011-01-01

    Waardenburg syndrome type Ⅱ (WS2) is associated with syndromic deafness.A subset of WS2,WS2A,accounting for approximately 15% of patients,is attributed to mutations in the microphthalmia-associated transcription factor (MITF) gene.We examined the genetic basis of WS2 in a large Chinese family.All 9 exons of the MITF gene,the single coding exon (exon 2) of the most common hereditary deafness gene GJB2 and the mitochondrial DNA (mtDNA) 12S rRNA were sequenced.A novel heterozygous mutation c.[742_743delAAinsT;746_747delCA]in exon 8 of the MITF gene co-segregates with WS2 in the family.The MITF mutation results in a premature termination codon and a truncated MITF protein with only 247 of the 419 wild type amino acids.The deaf proband had this MITF gene heterozygous mutation as well as a c.[ 109G>A]+[235delC]compound heterozygous pathogenic mutation in the GJB2 gene.No pathogenic mutation was found in mtDNA 12S rRNA in this family.Thus,a novel compound heterozygous mutation,c.[742_743delAAinsT;746_747delCA]in MITF exon 8 was the key genetic reason for WS2 in this family,and a digenic effect of MITF and GJB2 genes may contribute to deafness of the proband.

  6. Genetic analysis of tumorigenesis: a conserved region in the human and Chinese hamster genomes contains genetically identified tumor-suppressor genes

    International Nuclear Information System (INIS)

    Regional chromosome homologies were found in a comparison of human 11p with Chinese hamster 3p. By use of probes that recognize six genes of human 11p (INS, CAT, HBBC, CALC, PTH, and HRAS), the corresponding genes were localized by in situ hybridization on Chinese hamster chromosome 3. INS and CAT were located close to the centromere on 3p, whereas HBBC, CALC, and PTH were at 3q3-4 and HRAS at 3q4. Extensive prior data from chromosome studies of tumorigenic and tumor-derived Chinese hamster cells have suggested the presence of a tumor-suppressor gene on 3p. Two tumor-suppressor genes have been described on human 11p, one linked to CAT and one to INS. The present study raises the possibility that the Chinese hamster suppressor may be closely linked to INS or CAT

  7. The Use of High-Density SNP Array to Map Homozygosity in Consanguineous Families to Efficiently Identify Candidate Genes: Application to Woodhouse-Sakati Syndrome

    Directory of Open Access Journals (Sweden)

    Molly B. Sheridan

    2015-01-01

    Full Text Available Two consanguineous Qatari siblings presented for evaluation: a 17-4/12-year-old male with hypogonadotropic hypogonadism, alopecia, intellectual disability, and microcephaly and his 19-year-old sister with primary amenorrhea, alopecia, and normal cognition. Both required hormone treatment to produce secondary sex characteristics and pubertal development beyond Tanner 1. SNP array analysis of both probands was performed to detect shared regions of homozygosity which may harbor homozygous mutations in a gene causing their common features of abnormal pubertal development, alopecia, and variable cognitive delay. Our patients shared multiple homozygous genomic regions; ten shared regions were >1 Mb in length and constituted 0.99% of the genome. DCAF17, encoding a transmembrane nuclear protein of uncertain function, was the only gene identified in a homozygous region known to cause hypogonadotropic hypogonadism. DCAF17 mutations are associated with Woodhouse-Sakati syndrome, a rare disorder characterized by alopecia, hypogonadotropic hypogonadism, sensorineural hearing loss, diabetes mellitus, and extrapyramidal movements. Sequencing of the coding exons and flanking intronic regions of DCAF17 in the proband revealed homozygosity for a previously described founder mutation (c.436delC. Targeted DCAF17 sequencing of his affected sibling revealed the same homozygous mutation. This family illustrates the utility of SNP array testing in consanguineous families to efficiently and inexpensively identify regions of genomic homozygosity in which genetic candidates for recessive conditions can be identified.

  8. Functional characterisation of the TSC1–TSC2 complex to assess multiple TSC2 variants identified in single families affected by tuberous sclerosis complex

    Directory of Open Access Journals (Sweden)

    Dommering Charlotte

    2008-02-01

    Full Text Available Abstract Background Tuberous sclerosis complex (TSC is an autosomal dominant disorder characterised by seizures, mental retardation and the development of hamartomas in a variety of organs and tissues. The disease is caused by mutations in either the TSC1 gene on chromosome 9q34, or the TSC2 gene on chromosome 16p13.3. The TSC1 and TSC2 gene products, TSC1 and TSC2, interact to form a protein complex that inhibits signal transduction to the downstream effectors of the mammalian target of rapamycin (mTOR. Methods We have used a combination of different assays to characterise the effects of a number of pathogenic TSC2 amino acid substitutions on TSC1–TSC2 complex formation and mTOR signalling. Results We used these assays to compare the effects of 9 different TSC2 variants (S132C, F143L, A196T, C244R, Y598H, I820del, T993M, L1511H and R1772C identified in individuals with symptoms of TSC from 4 different families. In each case we were able to identify the pathogenic mutation. Conclusion Functional characterisation of TSC2 variants can help identify pathogenic changes in individuals with TSC, and assist in the diagnosis and genetic counselling of the index cases and/or other family members.

  9. Genetic variation at 8q24, family history of cancer, and upper gastrointestinal cancers in a Chinese population.

    Science.gov (United States)

    Tarleton, Heather P; Chang, Shen-Chih; Park, Sungshim Lani; Cai, Lin; Ding, Baoguo; He, Na; Hussain, Shehnaz K; Jiang, Qingwu; Mu, Li-Na; Rao, Jianyu; Wang, Hua; You, Nai-Chieh Y; Yu, Shun-Zhang; Zhao, Jin-Kou; Zhang, Zuo-Feng

    2014-03-01

    Genetic variation at 8q24 is associated with prostate, bladder, breast, colorectal, thyroid, lung, ovarian, UADT, liver and stomach cancers. However, a role for variation at 8q24 in familial clustering of upper gastrointestinal cancers has not been studied. In order to explore potential inherited susceptibility, we analyzed epidemiologic data from a population-based case-control study of upper gastrointestinal cancers from Taixing, China. The study population includes 204 liver, 206 stomach, and 218 esophageal cancer cases and 415 controls. Associations between 8q24 rs1447295, rs16901979, rs6983267 and these cancers were stratified by family history of cancer. Odds ratios and 95% confidence intervals were adjusted for potential confounders: age, sex, education, tobacco smoking, alcohol consumption, and BMI at interview. We also adjusted for hepatitis B and aflatoxin (liver cancer) and Helicobacter pylori (stomach cancer). In a dominant model, among those with a family history of cancer, rs1447295 was positively associated with liver cancer (OR(adj) 2.80; 95% CI 1.15-6.80). Heterogeneity was observed (P(heterogeneity) = 0.029) with rs6983267 and liver cancer, with positive association in the dominant model among those with a family history of cancer and positive association in the recessive model among those without a family history of cancer. When considered in a genetic risk score model, each additional 8q24 risk genotype increased the odds of liver cancer by two-fold among those with a family history of cancer (OR(adj) 2.00; 95% CI 1.15-3.47). These findings suggest that inherited susceptibility to liver cancer may exist in the Taixing population and that variation at 8q24 might be a genetic component of that inherited susceptibility. PMID:24030569

  10. Research progression of LDLR mutations in Chinese Familial hypercholesterolemia%中国人群家族性高胆固醇血症LDLR基因突变研究进展

    Institute of Scientific and Technical Information of China (English)

    代艳芳; 孙立元; 张新波; 王绿娅

    2011-01-01

    家族性高胆固醇血症(Familial hypercholesterolemia,FH)主要是由于低密度脂蛋白受体(Low-densitylipoprotein receptor,LDLR)基因突变导致的单基因显性遗传性疾病.FH患者LDLR基因突变导致细胞膜表面LDLR减少或缺如,机体代谢胆固醇能力降低,血浆胆固醇增高并沉积在不同的组织和器官,常伴有全身黄色瘤和早发冠心病,因此FH也是最常见的严重代谢性疾病.世界范围内对LDLR基因突变的报道总共有1741种,经整理我国目前报道的140例FH指示病例,包括108种LDLR基因突变类型.文章对已报道的中国FH患者LDLR基因突变特点进行系统分析和综述,旨在为FH诊断治疗提供参考依据.%Familial hypercholesterolemia (FPD), one monogenic autosomal dominant disease, mainly results from genetic defects in the low-density lipoprotein receptor (/D/R) gene, which leads to the reduction or absence of cell surface LDLR.disorder of cholesterol metabolism and cholesterol deposition in different tissues and organs.FH is a common metabolic disease clinically characterized by the presence of xanthomas and premature coronary heart disease.To date, about 1 741 variants have been identified in gene LDLR, among which 108 variants were identified in Chinese FH patients.To better understand the features of LDLR gene mutations and help to FH diagnosis and therapy, this review provides a comprehensive overview of LDLR gene mutations in Chinese FH patients.

  11. The biophysical characterization of the first SCN5A mutation R1512W identified in Chinese sudden unexplained nocturnal death syndrome.

    Science.gov (United States)

    Zheng, Jinxiang; Zhou, Feng; Su, Terry; Huang, Lei; Wu, Yeda; Yin, Kun; Wu, Qiuping; Tang, Shuangbo; Makielski, Jonathan C; Cheng, Jianding

    2016-06-01

    Increasing evidence observed in clinical phenotypes show that abrupt breathing disorders during sleep may play an important role in the pathogenesis of sudden unexplained nocturnal death syndrome (SUNDS). The reported Brugada syndrome causing mutation R1512W in cardiac sodium channel α subunit encoded gene SCN5A, without obvious loss of function of cardiac sodium channel in previous in vitro study, was identified as the first genetic cause of Chinese SUNDS by us. The R1512W carrier was a 38-year-old male SUNDS victim who died suddenly after tachypnea in nocturnal sleep without any structural heart disease. To test our hypothesis that slight acidosis conditions may contribute to the significant loss of function of mutant cardiac sodium channels underlying SUNDS, the biophysical characterization of SCN5A mutation R1512W was performed under both extracellular and intracellular slight acidosis at pH 7.0. The cDNA of R1512W was created using site-directed mutagenesis methods in the pcDNA3 plasmid vector. The wild type (WT) or mutant cardiac sodium channel R1512W was transiently transfected into HEK293 cells. Macroscopic voltage-gated sodium current (INa) was measured 24 hours after transfection with the whole-cell patch clamp method at room temperature in the HEK293 cells. Under the baseline conditions at pH 7.4, R1512W (-175 ± 15 pA/pF) showed about 30% of reduction in peak INa compared to WT (-254 ± 23 pA/pF, P  0.05) but decreased peak INa in R1512W (P death of SUNDS cases in the setting of genetic defect. PMID:27281089

  12. Identifying the Barriers to Early Diagnosis and Treatment in Underserved Individuals with Autism Spectrum Disorders (ASD) and Their Families: A Qualitative Study.

    Science.gov (United States)

    Elder, Jennifer Harrison; Brasher, Susan; Alexander, Beverly

    2016-06-01

    Clinical accounts indicate that disparities exist among families of children with Autism Spectrum Disorders (ASD), and that these disparities impede timely diagnosis and intervention. Furthermore, families living in rural areas are more likely to have reduced access to proper care and use alternative, unproven, and potentially harmful treatments. The purpose of this project was to begin addressing these needs by engaging providers and families of children with ASD living in rural and typically underserved areas. The investigators established a Community Advisory Board (CAB) of ASD professionals (e.g., community-based healthcare and service providers, director of a center for disabilities, psychologist, autism researcher, and special education professional). Next, they conducted four focus groups comprised of a total of 35 major stakeholders (e.g., individuals with ASD, parents of individuals with ASD, community-based healthcare and service providers, school teachers) to determine potential resources, barriers to early diagnosis/treatment, and alternative treatment use in children with ASD. Focus group sessions were audio-recorded, transcribed verbatim, and analyzed by three trained independent coders. Community participants identified several barriers to early diagnosis and intervention, as well as a variety of alternative treatments used in children with ASD. Thematic analysis of focus group transcripts showed several overarching themes regarding barriers to early diagnosis and treatment. Findings from this study have implications for practice and future research. PMID:27070190

  13. Whole-exome re-sequencing in a family quartet identifies POP1 mutations as the cause of a novel skeletal dysplasia.

    Directory of Open Access Journals (Sweden)

    Evgeny A Glazov

    2011-03-01

    Full Text Available Recent advances in DNA sequencing have enabled mapping of genes for monogenic traits in families with small pedigrees and even in unrelated cases. We report the identification of disease-causing mutations in a rare, severe, skeletal dysplasia, studying a family of two healthy unrelated parents and two affected children using whole-exome sequencing. The two affected daughters have clinical and radiographic features suggestive of anauxetic dysplasia (OMIM 607095, a rare form of dwarfism caused by mutations of RMRP. However, mutations of RMRP were excluded in this family by direct sequencing. Our studies identified two novel compound heterozygous loss-of-function mutations in POP1, which encodes a core component of the RNase mitochondrial RNA processing (RNase MRP complex that directly interacts with the RMRP RNA domains that are affected in anauxetic dysplasia. We demonstrate that these mutations impair the integrity and activity of this complex and that they impair cell proliferation, providing likely molecular and cellular mechanisms by which POP1 mutations cause this severe skeletal dysplasia.

  14. Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A

    Energy Technology Data Exchange (ETDEWEB)

    Wang Huawei [Key Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223 (China)]|[Laboratory for Conservation and Utilization of Bio-resource, Yunnan University, Kunming 650091 (China); Jia Xiaoyun; Ji Yanli [State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060 (China); Kong Qingpeng [State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan 650223 (China); Zhang Qingjiong [State Key Laboratory of Ophthalmology, Zhongshan Ophthalmic Center, Sun Yat-sen University, Guangzhou 510060 (China)], E-mail: qingjiongzhang@yahoo.com; Yao Yonggang [Key Laboratory of Animal Models and Human Disease Mechanisms, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming 650223 (China)]|[State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan 650223 (China)], E-mail: ygyaozh@yahoo.com; Zhang Yaping [Laboratory for Conservation and Utilization of Bio-resource, Yunnan University, Kunming 650091 (China)]|[State Key Laboratory of Genetic Resources and Evolution, Kunming Institute of Zoology, Chinese Academy of Sciences, Kunming, Yunnan 650223 (China)

    2008-08-25

    The penetrance of Leber's hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (P < 0.02), respectively. Analysis of the complete mtDNA genome of the two families revealed the presence of the primary mutation G11778A and several other variants suggesting the same haplogroup status G2a. The family with higher penetrance contained a previously described secondary mutation G13708A, which presents a polymorphism in normal Chinese samples and does not affect in vivo mitochondrial oxidative metabolism as described in a previous study. Evolutionary analysis failed to indicate any putatively pathogenic mutation that cosegregated with G11778A in these two pedigrees. Our results suggest that the variable penetrance of LHON in the two Chinese families is independent of both their mtDNA haplotype background and a secondary mutation G13708A. As a result, it is likely that unknown nuclear gene involvement and/or other factors contribute to the strikingly different penetrance of LHON.

  15. Treatment of lipoid proteinosis with acitretin in two patients from two unrelated Chinese families with novel nonsense mutations of the ECM1 gene.

    Science.gov (United States)

    Luo, Xiao-Yan; Li, Qiu; Tan, Qi; Yang, Huan; Xiang, Juan; Miao, Jing-Kun; Wang, Hua

    2016-07-01

    Lipoid proteinosis is a rare recessive genetic disorder caused by loss-of-function mutations to chromosome 1 at 1q21, the extracellular matrix protein 1 (ECM1) gene. Two children with lipoid proteinosis were reported from two unrelated Chinese families, both manifesting with a typical hoarse voice, white acne-like atrophic lesions and scarring on the skin, and beaded papules around the eyelids. The diagnosis had been confirmed by laboratory tests, skin biopsy and laryngoscope examination. Genomic DNA sequencing was performed for both children and their family members. The two children were treated with acitretin for 6 months and followed up for 1 year. Genomic DNA sequencing of the ECM1 gene showed a novel homozygous nonsense mutation of C1522>T (p.R508X) at exon 10 in one patient, and a novel compound heterozygote for a nonsense/frame-shift combination of mutations of R281X/1596delG at exons 7 and 10 in the other patient. The symptom of hoarse voice was improved by 6-month treatment with acitretin, while there was no improvement in the skin lesions. These results demonstrated that acitretin treatment may have efficacy for some of patients with lipoid proteinosis, with superior effect on laryngeal symptoms than skin lesions. However, the conclusive therapeutic effect and underlying mechanisms remain to be further investigated. PMID:26778481

  16. Evidence for association between Disrupted-in-schizophrenia 1 (DISC1 gene polymorphisms and autism in Chinese Han population: a family-based association study

    Directory of Open Access Journals (Sweden)

    Ruan Yan

    2011-05-01

    Full Text Available Abstract Background Disrupted-in-Schizophrenia 1 (DISC1 gene is one of the most promising candidate genes for major mental disorders. In a previous study, a Finnish group demonstrated that DISC1 polymorphisms were associated with autism and Asperger syndrome. However, the results were not replicated in Korean population. To determine whether DISC1 is associated with autism in Chinese Han population, we performed a family-based association study between DISC1 polymorphisms and autism. Methods We genotyped seven tag single nucleotide polymorphisms (SNPs in DISC1, spanning 338 kb, in 367 autism trios (singleton and their biological parents including 1,101 individuals. Single SNP association and haplotype association analysis were performed using the family-based association test (FBAT and Haploview software. Results We found three SNPs showed significant associations with autism (rs4366301: G > C, Z = 2.872, p = 0.004; rs11585959: T > C, Z = 2.199, p = 0.028; rs6668845: A > G, Z = 2.326, p = 0.02. After the Bonferroni correction, SNP rs4366301, which located in the first intron of DISC1, remained significant. When haplotype were constructed with two-markers, three haplotypes displayed significant association with autism. These results were still significant after using the permutation method to obtain empirical p values. Conclusions Our study provided evidence that the DISC1 may be the susceptibility gene of autism. It suggested DISC1 might play a role in the pathogenesis of autism.

  17. The Nature of Interactions between Chinese Immigrant Families and Preschool Staff: How Culture, Class, and Methodology Matter

    Science.gov (United States)

    Heng, Tang T.

    2014-01-01

    While the parental involvement field has progressed from asking what the impact of parental involvement is to how we can better involve parents, research has lagged in finding out how sociocultural and class differentials between homes and schools affect immigrant families' interactions with schools. This case study uses ethnographic tools to…

  18. 一个遗传性牙本质发育不全家系的分子遗传研究%Mutation analysis of a Chinese family with genetic dentinogenesis imperfecta

    Institute of Scientific and Technical Information of China (English)

    屈二军; 张红波; 陈兰英; 谷令彪

    2009-01-01

    Objective To study the genetic etiology of an autosomal dominant dentinogenesis imperfecta in a Chinese family. Methods The molecular change of the disease in the family was analyzed through the clinical examination, linkage analysis, mutational screening of the DSPP gene and restriction fragment length polymorphism analysis. Results The disease related gene was completely linked with microsatellite marker D4S1534. We found a novel mutation in the first exon of the DSPP gene (c. 49C→T,p. Pro17Ser). All patients in the family had the mutation, while this mutation was not observed in the normal individuals of this family and 100 unrelated controls. Conclusion The p. Pro17Ser identified in the family was a new pathogenic mutation. Our finding provided further understanding of the molecular mechanism of dentinogenesis Imperfecta.%目的 研究一个常染色体显性牙本质发育不全家系发病的遗传基础.方法 通过对一个DSPP家系临床检查和家族史调查,连锁分析和DSPP基因的突变检测,以及限制性片段长度多态分析方法,分析该家系发病的分子基础.结果 连锁分析发现,该疾病致病基因与微卫星标记D4S1534完全连锁,对位于该区域的DSPP基因进行测序分析,发现一个新的致病突变(c.49C→T,p.Pro17Ser),该突变位于DSPP基因的第1外显子.该家系所有患者中都检测到了这一致病突变,但家系中的正常个体和100个无亲缘关系的正常人中未发现这个突变.结论 p.Pro17Ser是牙本质发育不全Ⅱ型致病基因DSPP的一个新的致病突变.我们的研究进一步拓展了对牙本质发育不全疾病分子遗传基础的认识.

  19. Mutation screening of BIGH3 gene in a Chinese family with granular corneal dystrophies%一颗粒状角膜营养不良家系BIGH3基因突变的研究

    Institute of Scientific and Technical Information of China (English)

    郑洁; 薛敏; 张棣; 周青; 汪渊; 李寿玲

    2014-01-01

    Objective To identify the mutation of BIGH3 gene in a Chinese family with granular corneal dystro-phies( GCD) . Methods Genomic DNA was extracted from the peripheral blood of the GCD patients,the relatives of the GCD family and the normal controls. The 3 exons(4,11,12)of the BIGH3 gene were amplified by PCR and sequenced bidirectionally. The sequencing results were analyzed by DNAStar software. Results Directly sequen-cing of 4 affected members revealed a G to A transition at codon 124(CGC>CAC),producing R124H mutation of BIGH3 gene. Two synonymous single nucleotide polymorphism( SNPs) of BIGH3 gene were found in the family. The classification based on genetic information of this family was GCD type II. Conclusion BIGH3 gene mutation is the disease-causing gene of this GCD family, mutation type is R124H heterozygous mutations.%目的:对一颗粒状角膜营养不良( GCD )家系进行BIGH3基因突变筛查,以确定其致病基因。方法收集一常染色体显性遗传的GCD家系,提取该家系患者及正常者的DNA,通过聚合酶链式反应( PCR)扩增BIGH3基因的目的片段,纯化后直接测序,用DNAStar软件分析测序结果,检测其BIGH3基因突变的类型。结果该家系患者均检测出第4外显子的R124H突变(CGC>CAC),而家系中的正常者及50例正常对照者的BIGH3基因中均未发现该突变。家系成员都检测出第11、12外显子的同义单核苷酸多态性( SNP)。通过基因检测,确定该家系角膜营养不良的分型,即为GCDⅡ型,又称Avellino角膜营养不良( ACD)。结论 BIGH3基因突变导致了该家系角膜营养不良患者的角膜病变,突变类型为R124H杂合突变。

  20. Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A.

    Science.gov (United States)

    Wang, Hua-Wei; Jia, Xiaoyun; Ji, Yanli; Kong, Qing-Peng; Zhang, Qingjiong; Yao, Yong-Gang; Zhang, Ya-Ping

    2008-08-25

    The penetrance of Leber's hereditary optic neuropathy (LHON) in families with primary mitochondrial DNA (mtDNA) mutations is very complex. Matrilineal and nuclear genetic background, as well as environmental factors, have been reported to be involved in different affected pedigrees. Here we describe two large Chinese families that show a striking difference in the penetrance of LHON, in which 53.3% and 15.0% of members were affected (PLHON in the two Chinese families is independent of both their mtDNA haplotype background and a secondary mutation G13708A. As a result, it is likely that unknown nuclear gene involvement and/or other factors contribute to the strikingly different penetrance of LHON.

  1. Chinese culture and fertility decline.

    Science.gov (United States)

    Wu, C; Jia, S

    1992-01-01

    Coale has suggested that cultural factors exert a significant influence on fertility reduction; countries in the "Chinese cultural circle" would be the first to show fertility decline. In China, the view was that traditional Chinese culture contributed to increased population. This paper examines the nature of the relationship between Chinese culture and fertility. Attention was directed to a comparison of fertility rates of developing countries with strong Chinese cultural influence and of fertility within different regions of China. Discussion was followed by an explanation of the theoretical impact of Chinese culture on fertility and direct and indirect beliefs and practices that might either enhance or hinder fertility decline. Emigration to neighboring countries occurred after the Qing dynasty. Fertility after the 1950s declined markedly in Japan, Singapore, Hong Kong, South Korea, Taiwan, and mainland China: all countries within the Chinese cultural circle. Other countries within the Chinese circle which have higher fertility, yet lower fertility than other non-Chinese cultural countries, are Malaysia, Thailand, and Indonesia. Within China, regions with similar fertility patterns are identified as coastal regions, central plains, and mountainous and plateau regions. The Han ethnic group has lower fertility than that of ethnic minorities; regions with large Han populations have lower fertility. Overseas Chinese in East Asian countries also tend to have lower fertility than their host populations. Chinese culture consisted of the assimilation of other cultures over 5000 years. Fertility decline was dependent on the population's desire to limit reproduction, favorable social mechanisms, and availability of contraception: all factors related to economic development. Chinese culture affects fertility reduction by affecting reproductive views and social mechanisms directly, and indirectly through economics. Confucianism emphasizes collectivism, self

  2. A cardiac-specific robotized cellular assay identified families of human ligands as inducers of PGC-1α expression and mitochondrial biogenesis.

    Directory of Open Access Journals (Sweden)

    Matthieu Ruiz

    Full Text Available BACKGROUND: Mitochondrial function is dramatically altered in heart failure (HF. This is associated with a decrease in the expression of the transcriptional coactivator PGC-1α, which plays a key role in the coordination of energy metabolism. Identification of compounds able to activate PGC-1α transcription could be of future therapeutic significance. METHODOLOGY/PRINCIPAL FINDINGS: We thus developed a robotized cellular assay to screen molecules in order to identify new activators of PGC-1α in a cardiac-like cell line. This screening assay was based on both the assessment of activity and gene expression of a secreted luciferase under the control of the human PGC-1α promoter, stably expressed in H9c2 cells. We screened part of a library of human endogenous ligands and steroid hormones, B vitamins and fatty acids were identified as activators of PGC-1α expression. The most responsive compounds of these families were then tested for PGC-1α gene expression in adult rat cardiomyocytes. These data highly confirmed the primary screening, and the increase in PGC-1α mRNA correlated with an increase in several downstream markers of mitochondrial biogenesis. Moreover, respiration rates of H9c2 cells treated with these compounds were increased evidencing their effectiveness on mitochondrial biogenesis. CONCLUSIONS/SIGNIFICANCE: Using our cellular reporter assay we could identify three original families, able to activate mitochondrial biogenesis both in cell line and adult cardiomyocytes. This first screening can be extended to chemical libraries in order to increase our knowledge on PGC-1α regulation in the heart and to identify potential therapeutic compounds able to improve mitochondrial function in HF.

  3. A Seminar on Curbing Family Violence

    Institute of Scientific and Technical Information of China (English)

    SANDY; ZHU

    2000-01-01

    CURBING family violence has become a priority for Chinese women's federations since 1995, when the concept of family violence was accepted by Chinese women's organizations. At the basic level, it is one of many tasks for safeguarding women's

  4. Whole exome sequencing identifies causative mutations in the majority of consanguineous or familial cases with childhood-onset increased renal echogenicity.

    Science.gov (United States)

    Braun, Daniela A; Schueler, Markus; Halbritter, Jan; Gee, Heon Yung; Porath, Jonathan D; Lawson, Jennifer A; Airik, Rannar; Shril, Shirlee; Allen, Susan J; Stein, Deborah; Al Kindy, Adila; Beck, Bodo B; Cengiz, Nurcan; Moorani, Khemchand N; Ozaltin, Fatih; Hashmi, Seema; Sayer, John A; Bockenhauer, Detlef; Soliman, Neveen A; Otto, Edgar A; Lifton, Richard P; Hildebrandt, Friedhelm

    2016-02-01

    Chronically increased echogenicity on renal ultrasound is a sensitive early finding of chronic kidney disease that can be detected before manifestation of other symptoms. Increased echogenicity, however, is not specific for a certain etiology of chronic kidney disease. Here, we performed whole exome sequencing in 79 consanguineous or familial cases of suspected nephronophthisis in order to determine the underlying molecular disease cause. In 50 cases, there was a causative mutation in a known monogenic disease gene. In 32 of these cases whole exome sequencing confirmed the diagnosis of a nephronophthisis-related ciliopathy. In 8 cases it revealed the diagnosis of a renal tubulopathy. The remaining 10 cases were identified as Alport syndrome (4), autosomal-recessive polycystic kidney disease (2), congenital anomalies of the kidney and urinary tract (3), and APECED syndrome (1). In 5 families, in whom mutations in known monogenic genes were excluded, we applied homozygosity mapping for variant filtering and identified 5 novel candidate genes (RBM48, FAM186B, PIAS1, INCENP, and RCOR1) for renal ciliopathies. Thus, whole exome sequencing allows the detection of the causative mutation in 2/3 of affected individuals, thereby presenting the etiologic diagnosis, and allows identification of novel candidate genes. PMID:26489029

  5. Family Background and Academic Performance of Chinese Students in Thailand%家庭背景与在泰中国留学生的学业表现

    Institute of Scientific and Technical Information of China (English)

    金茗海; 林易

    2012-01-01

    Based on a survey of the Chinese undergraduate students studying in Thailand,the research verifies many hypotheses about the relationship between a student’s family background and his academic performance.The result shows that the better one’s family background is,the more likely he is either among the academically best or the worst,while the students from disadvantaged families are more likely to be at the intermediate level.Their different levels of cognitive ability before going to Thailand and their different expectations for future employment could be the reasons behind these variations of their academic performance.%利用在泰国留学的中国本科生的调查数据,检验了关于家庭背景与学业表现之关系的若干假设。研究发现,家庭背景好的留学生,更可能学业表现优秀,但同时也更可能学业表现很差。家庭背景差的留学生,其学业则更可能处于中等水平。认为,留学生来泰国之前的认知能力培养,以及他们在毕业时对求职就业的不同预期,是造成这种家庭背景影响学业表现的可能原因。

  6. Very high penetrance and occurrence of Leber's hereditary optic neuropathy in a large Han Chinese pedigree carrying the ND4 G11778A mutation.

    Science.gov (United States)

    Zhou, Xiangtian; Zhang, Hongxing; Zhao, Fuxin; Ji, Yanchun; Tong, Yi; Zhang, Juanjuan; Zhang, Yu; Yang, Li; Qian, Yaping; Lu, Fan; Qu, Jia; Guan, Min-Xin

    2010-08-01

    We report here the clinical, genetics and molecular characterization of a five-generation Han Chinese family with Leber's hereditary optic neuropathy (LHON). Strikingly, this family exhibits very high penetrance and occurrence of optic neuropathy. In particular, 25 (10 males/15 females) of 30 matrilineal relatives exhibited the variable severity, ranging from profound to mild of visual impairment. This penetrance of optic neuropathy in this Chinese family is much higher than those in many families with LHON worldwide. The age-at-onset for visual impairment in matrilineal relatives in this Chinese family varied from 7 to 24years old, with the average of 15 years old. Furthermore, the ratio between affected male and female matrilineal relatives is 1:1.5 in the Chinese family. This observation is in contrast with the typical features in LHON pedigrees that there was predominance of affected males in LHON in many families from different ethnic origins. Molecular analysis of mitochondrial genome identified the known ND4 G11778A mutation and 51 variants, belonging to Asian haplogroup C4a1. The absence of other known secondary LHON-associated and functionally significant mtDNA mutations in this Chinese family suggested that mitochondrial variants may not play an important role in the phenotypic manifestation of the G11778A mutation in this Chinese family. Therefore, nuclear modifier gene(s) may be responsible for very high penetrance and occurrence of optic neuropathy in this Chinese pedigree.

  7. Decision Making and the Adoption Process for American Families of Chinese Children: An Application of Rational Choice Theory

    OpenAIRE

    Bryant, Monica Raye

    2001-01-01

    Interviews were conducted with 20 parents in the US who have adopted one or more children from China. The study focuses on the motivation to adopt, decision making regarding adoption and the process in relation to rational choice theory. The interviews also inquired about their required adoption trip to China and the post-adoption adjustment phase including bonding and developmental delays, as well as about why families chose to adopt from China, how they learned about the adoption agency t...

  8. Chinese Children's Songs.

    Science.gov (United States)

    Kwok, Irene, Comp.

    Singing can be an enjoyable and effective way to motivate children to learn a second language. This booklet consists of contemporary and folk songs that are related to Chinese festivals, transportation, the family, seasons, Christmas and other topics. Each page gives the music to a song with the words in Chinese and in English. The songs are…

  9. Problems Facing the Chinese Family Education System%家庭教育中的中国式问题

    Institute of Scientific and Technical Information of China (English)

    伊凡

    2014-01-01

    家庭教育是家庭生活的重要内容,家长实施家庭教育的水平不仅影响孩子的未来,也与家庭生活的幸福感息息相关。目前我国家庭教育具有一些与社会经济、文化相联系的特点,主要表现在:隔代教养、父教缺失、亲子交流时间少、“乖”孩子情结、攀比心理、性教育缺乏、家长缺乏学习与反思意识等方面,为了孩子的健康成长,父母亲需要齐心协力,共同承担教养责任,提升实施家庭教育的水平。%Family education is the key to having a satisfactory home life , and has a large impact on a child ’ s development and future choices. Currently,our nation’s family education is strongly associated with its economy and culture. The traditional family education system is lacking several important elements. Often grandparents are forced to be role models in lieu of parents. Also ,the father figure is often missing from the picture as he is frequently away from home with work. This in turn leads to a decrease in interaction between the parent and child,and topics such as sexual education are neglected. Other issues with our family education system include the need to promote more autonomy and independence,the negative effects of rivalry,and the parents’ inability to reflect on learned material with their children. In order for children to grow and reach their full potential , parents must work together to resolve these issues and thereby improve the state of education within the family.

  10. Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene.

    Directory of Open Access Journals (Sweden)

    Yukinori Okada

    Full Text Available Integrating genetic data from families with highly penetrant forms of disease together with genetic data from outbred populations represents a promising strategy to uncover the complete frequency spectrum of risk alleles for complex traits such as rheumatoid arthritis (RA. Here, we demonstrate that rare, low-frequency and common alleles at one gene locus, phospholipase B1 (PLB1, might contribute to risk of RA in a 4-generation consanguineous pedigree (Middle Eastern ancestry and also in unrelated individuals from the general population (European ancestry. Through identity-by-descent (IBD mapping and whole-exome sequencing, we identified a non-synonymous c.2263G>C (p.G755R mutation at the PLB1 gene on 2q23, which significantly co-segregated with RA in family members with a dominant mode of inheritance (P = 0.009. We further evaluated PLB1 variants and risk of RA using a GWAS meta-analysis of 8,875 RA cases and 29,367 controls of European ancestry. We identified significant contributions of two independent non-coding variants near PLB1 with risk of RA (rs116018341 [MAF = 0.042] and rs116541814 [MAF = 0.021], combined P = 3.2 × 10(-6. Finally, we performed deep exon sequencing of PLB1 in 1,088 RA cases and 1,088 controls (European ancestry, and identified suggestive dispersion of rare protein-coding variant frequencies between cases and controls (P = 0.049 for C-alpha test and P = 0.055 for SKAT. Together, these data suggest that PLB1 is a candidate risk gene for RA. Future studies to characterize the full spectrum of genetic risk in the PLB1 genetic locus are warranted.

  11. A computational module assembled from different protease family motifs identifies PI PLC from Bacillus cereus as a putative prolyl peptidase with a serine protease scaffold.

    Science.gov (United States)

    Rendón-Ramírez, Adela; Shukla, Manish; Oda, Masataka; Chakraborty, Sandeep; Minda, Renu; Dandekar, Abhaya M; Ásgeirsson, Bjarni; Goñi, Félix M; Rao, Basuthkar J

    2013-01-01

    Proteolytic enzymes have evolved several mechanisms to cleave peptide bonds. These distinct types have been systematically categorized in the MEROPS database. While a BLAST search on these proteases identifies homologous proteins, sequence alignment methods often fail to identify relationships arising from convergent evolution, exon shuffling, and modular reuse of catalytic units. We have previously established a computational method to detect functions in proteins based on the spatial and electrostatic properties of the catalytic residues (CLASP). CLASP identified a promiscuous serine protease scaffold in alkaline phosphatases (AP) and a scaffold recognizing a β-lactam (imipenem) in a cold-active Vibrio AP. Subsequently, we defined a methodology to quantify promiscuous activities in a wide range of proteins. Here, we assemble a module which encapsulates the multifarious motifs used by protease families listed in the MEROPS database. Since APs and proteases are an integral component of outer membrane vesicles (OMV), we sought to query other OMV proteins, like phospholipase C (PLC), using this search module. Our analysis indicated that phosphoinositide-specific PLC from Bacillus cereus is a serine protease. This was validated by protease assays, mass spectrometry and by inhibition of the native phospholipase activity of PI-PLC by the well-known serine protease inhibitor AEBSF (IC50 = 0.018 mM). Edman degradation analysis linked the specificity of the protease activity to a proline in the amino terminal, suggesting that the PI-PLC is a prolyl peptidase. Thus, we propose a computational method of extending protein families based on the spatial and electrostatic congruence of active site residues.

  12. Parental Influence on Chinese Students' Achievement: A Social Capital Perspective

    Science.gov (United States)

    Wei, Dan

    2012-01-01

    This paper examines how social capital formed by effective parental practices within Chinese families influences student achievement. Survey responses from 266 students from Grades 4 to 6 in a suburban elementary school in China were analysed to identify their perceptions of parental practices (support, pressure, help, monitoring and…

  13. Identification of a novel mutation of DSPP gene in a Chinese family affected with dentinogenesis imperfecta shields type Ⅱ%遗传性乳光牙本质家系致病基因突变的鉴定

    Institute of Scientific and Technical Information of China (English)

    刘彦山; 黄颖之; 高劲松; 李闪; 赵秀丽; 张学

    2016-01-01

    目的 对一个遗传性乳光牙本质(dentinogenesis imperfecta shields typeⅡ,DGI-Ⅱ)家系进行DSPP基因的突变分析.方法 采集家系成员外周血或胎儿绒毛组织,用酚氯仿法提取基因组DNA.应用聚合酶链反应(polymerase chain reaction,PCR)-Sanger测序方法鉴定先证者DSPP基因第2~5外显子及外显子/内含子衔接区序列,并进行突变分析;针对突变位点设计错配引物引入AluⅠ酶切位点,通过限制性酶切和琼脂糖凝胶电泳方法在该家系正常人及60名无关正常个体中进行致病突变验证;构建含微型DSPP基因的pcDNA3.1基因表达载体,在体外培养细胞中验证突变致病性.结果 该家系3例患者和一名胎儿均携带DSPP基因内c.52-1G>A的杂合突变,突变造成该基因第3外显子5 '端剪接点变异;60名对照者和家系正常个体均未携带该突变;微小基因(Minigene)体外表达显示c.52-1G>A导致DSPP基因转录产物第3外显子的跳跃剪接.结论 本研究在一个DGI-Ⅱ家系中发现了DSPP基因内一个新的致病剪接突变(c.52-1G>A),并在此基础上为先证者提供了产前基因诊断.%Objective To identify the causative mutation in a Chinese family affected with dentinogenesis imperfecta shields type Ⅱ (DGI-Ⅱ).Methods With informed consent obtained from all participants,peripheral blood or chorionic villi samples were collected from the family members.Genomic DNA was extracted using a standard SDS-proteinase K-phenol/chloroform method.The whole coding region and exon/intron boundaries of the DSPP gene were amplified with polymerase chain reaction (PCR) and subjected to Sanger sequencing.To confirm the pathogenicity of the identified mutation,an Alu Ⅰ recognition sequence was introduced into the mutant allele using mismatch primers by semi-nested PCR.Restriction fragment length polymorphism (RFLP) analysis was then carried out for all family members and 60 unrelated healthy controls

  14. Finding Family

    Institute of Scientific and Technical Information of China (English)

    2010-01-01

    Discovering her birth parents was an exciting adventure for a 15-year-old girl It took 14 years-and just two minutes-for an adopted Chinese girl to find her biological family.July 21 this year marked the first

  15. Problems of Family-oriented Governance Structure in Chinese Private Enterprise%关于民营企业治理结构的家族化问题

    Institute of Scientific and Technical Information of China (English)

    欧阳萍; 许跃辉

    2009-01-01

    以家族为基础成长起来的我国民营企业经过多年的发展,目前已处于产权革新阶段,由产权引发的治理结构问题在成为制约民营企业持续发展壮大的关键因素.文章首先对中国民营企业治理结构的现状归纳分析;然后基于委托代理论,对民营企业治理结构家族化的原因进行分析;最后,分析民营企业治理结构家族化面临的问题,说明企业成长的内在规定性要求家族企业沿着所有权和控制权的路径变迁,并最终过渡到由支薪经理所支配的现代股份公司.%Chinese private enterprise based on a family has been grown-up for many years, and is now in the stage of property rights innovation. The property right by the governance structure is being the key constraints of sustainable development of private enterprises. So this paper firstly analysis of circumstances of the governance structure in chinese private enterprises Secondly, on view of theory commissioned , cause's of the private corporate governance structure has been made analysis for the intrinsic growth of the enterprise requirement of changes along the family business ownership and control of the path, and eventually transition to be dominated by the payroll manager modern joint-stock companies; Finally, rational goal of governance structure is to change ties based on the marriage and blood into separation of ownership and control, transiting private enterprises into modern joint-stock companies dominated by managers.

  16. Endodontic bacteria from primary and persistent endodontic lesions in Chinese patients as identified by cloning and 16S ribosomal DNA gene sequencing

    Institute of Scientific and Technical Information of China (English)

    LI Xin; ZHU Xiao-fei; ZHANG Cheng-fei; Peter Cathro; CJ Seneviratne; SHEN Song

    2013-01-01

    Background Few literatures pertain to the 16S ribosomal DNA (16S rDNA) analysis of bacteria contributing to primary and persistent endodontic lesions,with no information available for the Chinese population.As such,we investigated endodontic bacteria associated with primary and persistent endodontic lesions in adult Chinese patients living in Beijing,China using 16S rDNA gene sequencing techniques.Methods Endodontic microbial samples were obtained from fourteen adult Chinese patients and subjected to DNA extraction.Pllymerase chain reaction (PCR) products were cloned and 100 clones from each generated library were randomly selected.Purified plasmid DNA with 16S rDNA gene inserts was sequenced,and the sequences were searched against GenBank databases using the BLASTN algorithm.Only significant identification with the highest-scored BLAST result and 99% minimum similarity was considered for phylotyping.Results More than 150 taxa were obtained.Primary endodontic infection was mainly associated with Burkholderia cepacia,Actinomyces,Aranicola spp.and Streptococcus sanguinis,whilst Burkholderia cepacia was predominant in the persistent endodontic infections.Conclusion There is a difference in the species profile associated with endodontic infections of Chinese patients living in Beiiing in comoarison to other geographical or ethnic reports.

  17. A novel p. Gly630Ser mutation of COL2A1 in a Chinese family with presentations of Legg-Calve-Perthes disease or avascular necrosis of the femoral head.

    Directory of Open Access Journals (Sweden)

    Na Li

    Full Text Available OBJECTIVE: Mutations in the type II collagen gene are associated with certain human disorders, collectively termed type II collagenopathies. They include Legg-Calvé-Perthes disease (LCPD and avascular necrosis of the femoral head (ANFH. These two diseases are skeletal dysplasias, inherited in an autosomal dominant fashion, characterized by groin pain, dislocation of the hip and diminished joint mobility. Coxa vara and elevation of the greater trochanter of the femur comprise the typical phenotype of LCPD, but do not occur in ANFH. Lack of synthesis of type II collagen and structural defects are responsible for the major clinical outcomes, because collagen is the essential matrix protein of all connective tissues. Type II collagen, encoded by the COL2A1 gene, contains N- and C- terminal regions that are cleaved after secretion into the extracellular matrix, and the core area is composed of a triple helical (Gly-X-Y domain. If the Gly in this specific region is replaced by other amino acids, the structure of type II collagen will be destroyed. METHOD: Forty-five members of a four-generation family were recruited and investigated. Diagnosis was made by independent orthopedic surgeons and radiologists. A mutation of the COL2A1 gene was detected. RESULT: In our research, we identify a heterozygous mutation (c.1888 G>A, p. Gly630Ser in exon 29 of COL2A1 in the Gly-X-Y domain, in a Chinese family affected by LCPD and ANFH. Our findings provide significant clues to the phenotype-genotype relationships in these syndromes and may be helpful in clinical diagnosis. Furthermore, these results should assist further studies of the mechanisms underlying collagen diseases. CONCLUSION: Our data add new variants to the repertoire of COL2A1 mutation resulting in related collagenopathies.

  18. Children exposed to intimate partner violence: Identifying differential effects of family environment on children's trauma and psychopathology symptoms through regression mixture models.

    Science.gov (United States)

    McDonald, Shelby Elaine; Shin, Sunny; Corona, Rosalie; Maternick, Anna; Graham-Bermann, Sandra A; Ascione, Frank R; Herbert Williams, James

    2016-08-01

    The majority of analytic approaches aimed at understanding the influence of environmental context on children's socioemotional adjustment assume comparable effects of contextual risk and protective factors for all children. Using self-reported data from 289 maternal caregiver-child dyads, we examined the degree to which there are differential effects of severity of intimate partner violence (IPV) exposure, yearly household income, and number of children in the family on posttraumatic stress symptoms (PTS) and psychopathology symptoms (i.e., internalizing and externalizing problems) among school-age children between the ages of 7-12 years. A regression mixture model identified three latent classes that were primarily distinguished by differential effects of IPV exposure severity on PTS and psychopathology symptoms: (1) asymptomatic with low sensitivity to environmental factors (66% of children), (2) maladjusted with moderate sensitivity (24%), and (3) highly maladjusted with high sensitivity (10%). Children with mothers who had higher levels of education were more likely to be in the maladjusted with moderate sensitivity group than the asymptomatic with low sensitivity group. Latino children were less likely to be in both maladjusted groups compared to the asymptomatic group. Overall, the findings suggest differential effects of family environmental factors on PTS and psychopathology symptoms among children exposed to IPV. Implications for research and practice are discussed. PMID:27337691

  19. Identification of three novel OA1 gene mutations identified in three families misdiagnosed with congenital nystagmus and carrier status determination by real-time quantitative PCR assay

    Directory of Open Access Journals (Sweden)

    Hamel Christian

    2003-01-01

    Full Text Available Abstract Background X-linked ocular albinism type 1 (OA1 is caused by mutations in OA1 gene, which encodes a membrane glycoprotein localised to melanosomes. OA1 mainly affects pigment production in the eye, resulting in optic changes associated with albinism including hypopigmentation of the retina, nystagmus, strabismus, foveal hypoplasia, abnormal crossing of the optic fibers and reduced visual acuity. Affected Caucasian males usually appear to have normal skin and hair pigment. Results We identified three previously undescribed mutations consisting of two intragenic deletions (one encompassing exon 6, the other encompassing exons 7–8, and a point mutation (310delG in exon 2. We report the development of a new method for diagnosis of heterozygous deletions in OA1 gene based on measurement of gene copy number using real-time quantitative PCR from genomic DNA. Conclusion The identification of OA1 mutations in families earlier reported as families with hereditary nystagmus indicate that ocular albinism type 1 is probably underdiagnosed. Our method of real-time quantitative PCR of OA1 exons with DMD exon as external standard performed on the LightCycler™ allows quick and accurate carrier-status assessment for at-risk females.

  20. Genomewide high-density SNP linkage analysis of non-BRCA1/2 breast cancer families identifies various candidate regions and has greater power than microsatellite studies

    Directory of Open Access Journals (Sweden)

    Gonzalez-Neira Anna

    2007-08-01

    Full Text Available Abstract Background The recent development of new high-throughput technologies for SNP genotyping has opened the possibility of taking a genome-wide linkage approach to the search for new candidate genes involved in heredity diseases. The two major breast cancer susceptibility genes BRCA1 and BRCA2 are involved in 30% of hereditary breast cancer cases, but the discovery of additional breast cancer predisposition genes for the non-BRCA1/2 breast cancer families has so far been unsuccessful. Results In order to evaluate the power improvement provided by using SNP markers in a real situation, we have performed a whole genome screen of 19 non-BRCA1/2 breast cancer families using 4720 genomewide SNPs with Illumina technology (Illumina's Linkage III Panel, with an average distance of 615 Kb/SNP. We identified six regions on chromosomes 2, 3, 4, 7, 11 and 14 as candidates to contain genes involved in breast cancer susceptibility, and additional fine mapping genotyping using microsatellite markers around linkage peaks confirmed five of them, excluding the region on chromosome 3. These results were consistent in analyses that excluded SNPs in high linkage disequilibrium. The results were compared with those obtained previously using a 10 cM microsatellite scan (STR-GWS and we found lower or not significant linkage signals with STR-GWS data compared to SNP data in all cases. Conclusion Our results show the power increase that SNPs can supply in linkage studies.