WorldWideScience

Sample records for chinese nuclear families

  1. Polymorphisms in the HOXD4 gene are not associated with peak bone mineral density in Chinese nuclear families

    OpenAIRE

    Zhang, Hao; He, Jin-Wei; Gao, Gao; Yue, Hua; Yu, Jin-bo; Hu, Wei-wei; Gu, Jie-mei; Hu, Yun-qiu; Li, Miao; Fu, Wen-zhen; Liu, Yu-juan; Zhang, Zhen-lin

    2010-01-01

    Aim: To determine the associations between HOXD4 gene polymorphisms with peak bone mineral density (BMD) throughing measuring three tagging single nucleotide polymorphisms (tagSNPs), including rs1867863, rs13418078, and rs4972504, in HOXD4. Methods: Four hundred Chinese nuclear families with male offspring (1215 subjects) and 401 Chinese nuclear families with female offspring (1260 subjects) were recruited. BMD of the lumbar spine 1-4 (L1-4) and left proximal femur including total hip and fem...

  2. 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.

  3. Chinese nuclear insurance and Chinese nuclear insurance pool

    International Nuclear Information System (INIS)

    Chinese Nuclear Insurance Started with Daya Bay Nuclear Power Station, PICC issued the insurance policy. Nuclear insurance cooperation between Chinese and international pool's organizations was set up in 1989. In 1996, the Chinese Nuclear Insurance Pool was prepared. The Chinese Nuclear Insurance Pool was approved by The Chinese Insurance Regulatory Committee in May of 1999. The principal aim is to centralize maximum the insurance capacity for nuclear insurance from local individual insurers and to strengthen the reinsurance relations with international insurance pools so as to provide the high quality insurance service for Chinese nuclear industry. The Member Company of Chinese Nuclear Pool and its roles are introduced in this article

  4. 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.

  5. 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.

  6. 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

  7. 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.

  8. 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)

  9. Relational Incentives in Chinese Family Firms

    OpenAIRE

    Pi Jiancai

    2011-01-01

    This paper mainly discusses the choice of managerial compensation contracts in Chinese family firms. Relation or guanxi in Chinese language is an important factor that should be considered because it can bring the shirking cost to the relation-based manager and the caring cost to the owner under Chinese-style differential mode of association (“chaxu geju”). Our theoretical analysis shows that under some conditions it is optimal for the owner to choose the efficiency wage contract, and t...

  10. Management Innovation for Chinese Family Business

    OpenAIRE

    Li Liu; Xinde Chen

    2014-01-01

    Purpose ¨Cbased on the complicate and changeable situation in the economic field, Chinese family enterprises should rethink the strategy and innovate continually to achieve the evergreen. The purpose of this paper is to examine the advantage and disadvantage of Chinese family business and deduce several Applicable approaches for Sustainable development. Design/methodology/approach ¨CBased on a review of the relevant literature, Advantages and disadvantages are developed. Case study data are u...

  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. 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.

  14. Chinese Nuclear Science Basic Data Base (CNSBDB)

    Institute of Scientific and Technical Information of China (English)

    2002-01-01

    A new research project on "Development of the Chinese Nuclear Science Basic Database (CNSBDB)for Fundamental Researches of Nuclear Physics and Interrelated Subjects, and Requirements of NuclearPower and Nuclear Technologies Application" has been commenced. The CNSBDB contains thefollowing eight segments: 1) Information on Nuclear Science (INFO); 2) Nuclear Structure Data Base(NSDB); 3) Nuclear Decay Data Base (NDDB); 4) Nuclear Reaction Data Base (NRDB); 5) Nuclear

  15. Family Therapy for the "Truncated" Nuclear Family.

    Science.gov (United States)

    Zuk, Gerald H.

    1980-01-01

    The truncated nuclear family consists of a two-generation group in which conflict has produced a polarization of values. The single-parent family is at special risk. Go-between process enables the therapist to depolarize sharply conflicted values and reduce pathogenic relating. (Author)

  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. Families Facing the Nuclear Taboo.

    Science.gov (United States)

    Jacobs, Judith Bula

    1988-01-01

    Discusses attitudes of 12 families participating in group which was formed to focus on issues related to the possibility of a nuclear disaster. Why and how these families are facing the nuclear taboo plus various outcomes of doing so are discussed as well as the role of the professional in encouraging such openness about these difficult issues.…

  18. 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. ...

  19. 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…

  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. Interaction between Chinese Family Business and Cultural Differences in Malaysia

    Directory of Open Access Journals (Sweden)

    Iskandar Hasan Tan Abdullah

    2014-04-01

    Full Text Available 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. Using a correlation test to examine the effect of inheritance in a family business among the Chinese, the study stress on the variables such as power distance, uncertainty avoidance, and masculinity vs. femininity, individualism vs. collectivism, time orientation and impact on value dimension. In addition, factor analysis and regression testing are also used to determine the main determinant factor in the family business inheritance among the Chinese community. Primary data were collected from August to October 2011 using questionnaires. Meanwhile, secondary data were gathered through library research and interviews with Chinese traders on the East Coast of Malaysia. From the qualitative study, it is found that the main reasons for refusal to inherit the family business among the younger Chinese generation is due to jobs that offer the lucrative wages as compared to profits earned in the family business. Job status, educational level and age are also the factors that influence the younger Chinese generation not to inherit the family business.

  2. 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.A. Ikram (Arfan); 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

  3. The Nuclear Age: Context for Family Interaction.

    Science.gov (United States)

    Ptacek, Carmen

    1988-01-01

    Suggests that concerns regarding the nuclear threat are prevalent among family members; parents and children feel powerless in response to the nuclear threat; response to the nuclear threat is a family issue; responding to the nuclear threat requires empowering families and changing the social context; and nuclear concerns need to be addressed in…

  4. FAMILY INVOLVEMENT IN CHINESE AND GERMAN SMALL BUSINESSES

    OpenAIRE

    ANTJE SCHMITT; MICHAEL FRESE

    2011-01-01

    The goal of this study was to examine cultural differences in the value of family involvement in German and Chinese small businesses due to their differences in collectivism/individualism. Our analyses, based on a sample of 562 Chinese and German owners, showed that family involvement — measured as the number of family members that work in the business — is higher in China than in Germany. Compared to German business owners, Chinese owners received most of their start-up capital from family m...

  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. 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

  9. Family Ties and Organizational Design: Evidence from Chinese Private Firms.

    OpenAIRE

    Cai, Hongbin; Li, Hongbin; Park, Albert; Zhou, Li-An

    2010-01-01

    Analyzing data from a unique survey of managers of Chinese private firms, we investigate how family ties with firm heads affect managerial compensation and job assignment. We find that family managers earn higher salaries and receive more bonuses, hold higher positions, and are given more decision rights and job responsibilities than non-family managers in the same firm. However, family managers face weaker incentives than professional managers as seen in the lower sensitivity of their bonuse...

  10. Entrepreneurial Orientation of ethnic Chinese Family Firm

    OpenAIRE

    Khan, Bushra Ahmed

    2013-01-01

    Until recently, family firms have been an overlooked phenomena in the academic world. Recognition that family firms make up the backbone of most the economies of the world have spurred on researchers to take a closer look at these complex and heterogeneous entities. One of the topics that have emerged in the field of family business is entrepreneurial orientation, which is essentially an established construct from the strategic management literature consisting of five dimensions- autonomy, in...

  11. 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…

  12. 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.

  13. 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.

  14. 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

  15. 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.

  16. 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.…

  17. 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…

  18. Franco-Chinese nuclear cooperation: a history of shared development

    International Nuclear Information System (INIS)

    Cooperation between France and China in the nuclear field dates back more than thirty years French companies have contributed to the emergence of Chinese nuclear power and supplied their technology. Cooperation at the onset of the twenty-first century has reached a stage of equality. France has thus made possible the emergence of the Chinese nuclear industry and by the same token China's nuclear sector has become a key component for the future of the French nuclear energy complex. (author)

  19. 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.

  20. 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…

  1. 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

  2. Paternal and maternal influences on family functioning among Hong Kong Chinese families.

    Science.gov (United States)

    Shek, D T

    2001-03-01

    The linkages between dyadic relationships in the family and family functioning were examined in 378 Chinese families on two occasions. The following dyadic relationships were investigated: (a) parent-child relationship qualities reported by adolescent children (questionnaire and interview measures of parenting style, parent-adolescent conflict, parent-adolescent communication, and parent-adolescent relationship) and by their parents (questionnaire measures of parent-child relationship quality and demand); and (b) marital quality reported by the parents via questionnaire measures. Results showed that parents' and children's views of family functioning were longitudinally related to dyadic relationships in the family. Relative to mother-adolescent relationship and mothers' report of marital quality, father-adolescent relationship and fathers' report of marital quality were generally found to have a stronger association with perception of family functioning and its change over time. PMID:11338441

  3. 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…

  4. 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

  5. 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…

  6. 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…

  7. Chinese-Arab Cooperation in the Field of Nuclear Energy

    International Nuclear Information System (INIS)

    The Chinese-Arab cooperation in the field of nuclear energy launched during the second Conference of Chinese-Arab cooperation in the field of energy, which was held in Khartoum during the period of 26 to 28 January 2010, where a meeting was held between the Arab Atomic Energy Agency and the Chinese Nuclear National Committee in the framework of activating the memorandum of understanding between the League of Arab States and the Chinese National Energy Authority, which is responsible of the cooperation with the Arab countries wishing to enter the nuclear option within their strategies to diverse their sources of energy and promote their nuclear infrastructure, as well as help the Arab Atomic Energy Agency in the implementation of the Arab strategy for peaceful uses of atomic energy until the year 2020 and find a mechanism for the Arab-Chinese cooperation in the field of nuclear energy. The Arab Atomic Energy Agency also proposed programs over the coming years in the fields of energy planning, nuclear safety, selection of sites, exploring of uranium, emergency preparedness and response and management of radioactive reactors.

  8. Molecular genetics of a Chinese family with spinocerebellar ataxia

    Directory of Open Access Journals (Sweden)

    Dan-dan WU

    2015-10-01

    Full Text Available Objective To study the genotype of the members of a Chinese family with spinocerebellar ataxia (SCA. Methods The peripheral blood samples of 6 patients and 40 asymptomatic people belonged to the family were collected. Referring to the clinical manifestations of the proband and second-generation sequencing results, the CAG trinucleotide repeats of the pathogenic gene ATXN2 were amplified by polymerase chain reaction (PCR. The repeated times of the trinucleotide in normally and abnormally amplified alleles were defined by agarose gel electrophoresis and PCR products sequencing. Results Autosomal dominant heredity was the cause of the SCA in this family. Six out of 46 in the fourth-generation were SCA2 patients, 7 were the carriers of pathogenic allele. The repeated times of CAG trinucleotide were within the normal range in one of the two alleles of ATXN2, but they were in abnormal range in the another one. The repeated times of CAG trinucleotide were 40-46 in abnormal alleles of patients. Conclusion Autosomal dominant heredity SCA2 has been diagnosed in this family caused by the dynamic nutation of CAG trinucleotide repeats, and 7 pathogenic allele carriers in this family were confirmed by genetic diagnosis. DOI: 10.11855/j.issn.0577-7402.2015.08.07

  9. 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…

  10. 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.

  11. Psychometric properties of a Chinese version of the medical outcomes study family and marital functioning measures in Hong Kong Chinese childbearing families

    OpenAIRE

    Ngai, Fei-Wan; Ngu, Siew-Fei

    2012-01-01

    The aim of the study was to evaluate the psychometric properties of the Chinese version of Medical Outcomes Study Family and Marital Functioning Measures (C-MOS-FMFM) in Hong Kong Chinese childbearing families. A cross-sectional survey was conducted using a convenience sample of 128 childbearing couples recruited from antenatal clinics. The C-MOS-FMFM demonstrated good internal consistency (Cronbach's alpha = 0.79) and test-retest reliability (intraclass correlation coefficient = 0.74). Signi...

  12. Current status of Chinese nuclear power industry and technology

    International Nuclear Information System (INIS)

    China has been carrying out active international cooperation aiming to be a country where is to be an economical super power and an advanced country in nuclear power technology by the year early 2000, and China also has begun to be recognized as the largest potential market for the construction of nuclear power plants(NPPs) expecting to construct more than thirty nuclear power units by the year 2020. China has advanced technology in the basic nuclear science including liquid metal breeder reactor technology, nuclear material, medium and small size power plants, and isotope production technology, and also China has complete nuclear fuel cycle technology. However, China still has low NPP technology. Therefore, it is expected that China may have complementary cooperative relationship with China, it is expected that Korea may have an access to the advanced Chinese nuclear science technology, and may have a good opportunity to explore the Chinese market actively exporting excellent Korean NPP technology, and further may have a good position to the neighboring Asian countries' NPP markets. From this perspective, general Chinese social status, major nuclear R and D activity status, and correct NPP and technology status have been analyzed in this report, and this report is expected to be a useful resource for cooperating with China in future. 10 tabs., 6 figs., 16 refs. (Author)

  13. 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 .

  14. 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,…

  15. Family functioning, marital quality and social support in Chinese patients with epilepsy

    OpenAIRE

    Wang, Yi-he; Haslam, Michelle; Yu, Ming; Ding, Juan; Lu, Qian; Pan, Fang

    2015-01-01

    Background The purpose of this study was to examine family functioning, marital quality, social support, and anxiety and depression in Chinese patients with Epilepsy (PWE) in comparison with healthy people. Methods This case–control study included 42 PWE and 42 healthy controls. Participants completed the Zung’s self-rating depression scale, the Zung’s self-rating anxiety scale, the Chinese version of family cohesion and flexibility evaluation scales, the Chinese version of the marital invent...

  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. Child Psychological Maltreatment and Its Correlated Factors in Chinese Families.

    Science.gov (United States)

    Zhang, Wenjing; Ma, Yating; Chen, Jingqi

    2016-01-01

    The present study aimed to explore the prevalence and frequency of child psychological maltreatment and its correlated factors in Chinese families. A cross-sectional investigation was conducted among 1,002 parents of primary school students in Yuncheng City, China. Data were collected using the self-report questionnaire anonymously. Results showed that 696 (69.5%) surveyed parents had different extents of psychological maltreatment toward their children in the past 3 months. The high prevalence of parental psychology maltreatment was significantly associated with high scores on parental over-reactivity and low scores on recognition of child psychology maltreatment. These findings indicate that it is urgent to develop cultural interventions to raise parents' awareness of preventing child psychological maltreatment and to help parents use nonviolent child rearing in China. PMID:27030213

  18. 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

  19. Mutation analysis of congenital cataract in a Chinese family identified a novel missense mutation in the connexin 46 gene (GJA3)

    OpenAIRE

    Zhou, Zhou; Hu, Shanshan; Wang, Binbin; Zhou, Nan; Zhou, Shiyi; Ma, Xu; Qi, YanHua

    2010-01-01

    Purpose To identify the genetic defects in a three-generation Chinese family with congenital nuclear cataract. Methods Four patients and three healthy members from the family underwent complete physical and ophthalmic examinations. Genomic DNA was extracted from peripheral blood leukocytes of the family members as well as from 100 healthy normal controls. Polymerase chain reaction (PCR) amplification and direct sequencing of all coding exons of candidate genes were performed. The functional c...

  20. A world-class design for the Chinese Nuclear Program

    International Nuclear Information System (INIS)

    Under the name Grupo Nuclear SEPI, the companies BWE, ENDESA, ENSA, ENRESA, ENUSA and INITEC, in a partnership in SEPI and with extensive experience in the nuclear sector, have in the last few years been coordinating technical and commercial actions targeted primarily at the Chinese nuclear market. These actions have been carried out under Westinghouse's leadership, for the purpose of providing a 1000 MWe nuclear Power plant design tailored to the local requirements defined by experts and authorities of the People's Republic of China (project CPWR 1000). (Author)

  1. 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

  2. Educational Programme in Nuclear Security (Chinese Version)

    International Nuclear Information System (INIS)

    Higher education plays an essential role in nuclear security capacity building. It ensures the availability of experts able to provide the necessary competencies for the effective national nuclear security oversight of nuclear and other radioactive material and to establish and maintain an appropriate nuclear regime in a State. This guide provides both the theoretical knowledge and the practical skills necessary to meet the requirements described in the international framework for nuclear security. Emphasis is placed on the implementation of these requirements and recommendations in States. On the basis of this guide, each university should be able to develop its own academic programme tailored to suit the State's educational needs in the area of nuclear security and to meet national requirements.

  3. Nuclear Security Culture. Implementing Guide (Chinese Edition)

    International Nuclear Information System (INIS)

    This Implementing Guide defines the basic concepts and elements of nuclear security culture. It will assist States in planning and implementing a programme to improve nuclear security culture, with particular emphasis on areas … such as regulation, government institutions and general public awareness. It provides an overview of the attributes of an effective nuclear security culture and emphasizes that nuclear security is ultimately dependent on individuals - policy makers, regulators, managers, individual employees and, to a certain extent, members of the general public. It also offers practical ways to assess and improve the effectiveness of security culture

  4. Two mutations in LDLR gene were found in two Chinese families with familial hypercholesterolemia.

    Science.gov (United States)

    Cheng, Xiaohuan; Ding, Junfa; Zheng, Fang; Zhou, Xin; Xiong, Chenling

    2009-11-01

    Familial hypercholesterolemia (FH) (OMIM 143890) is an autosomal dominantly inherited disease mainly caused by mutations of the gene encoding the low density lipoprotein receptor (LDLR) and Apolipoprotein (Apo) B. First the common mutation R3500Q in ApoB gene was determined using PCR/RFLP method. Then the LDLR gene was screened for mutations using Touch-down PCR, SSCP and sequencing techniques. Furthermore, the secondary structure of the LDLR protein was predicted with ANTHEPROT5.0. The R3500Q mutation was absent in these two families. A heterozygous p.W483X mutation of LDLR gene was identified in family A which caused a premature stop codon, while a homozygous mutation p.A627T was found in family B. The predicted secondary structures of the mutant LDLR were altered. We identified two known mutations (p.W483X, p.A627T) of the LDLR gene in two Chinese FH families respectively. PMID:19020990

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

    International Nuclear Information System (INIS)

    Highlights: ► We report the characterization of a four-generation large Chinese family with ADOA. ► We find a new heterozygous mutation c.C1198G in OPA1 gene which may be a novel pathogenic mutation in this pedigree. ► We do not find any mitochondrial DNA mutations associated with optic atrophy. ► 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.

  6. 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.

  7. 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.

  8. Climate change and nuclear power: Chinese perspective

    International Nuclear Information System (INIS)

    Nuclear power in China is boosted by serious electricity, coal and oil supply shortages and by government policy. The government started advocating nuclear power after serious electricity shortages in 2003. 'Proactively promote the development of nuclear power', pronounced first in the 11th five year National Social and Economic Development Plan, has already been adopted by national strategic polices and action plans. The principle of integrating climate change policy with other policies is emphasized in the national policies to address climate change. China will give full consideration to climate change issues by integrating related measures (both mitigation and adaptation) into its National Social and Economic Development Plan under the framework of sustainable development. Nuclear power can bring multiple benefits by improving the fossil fuel dominated energy mix, reducing associated pollution and alleviating the heavy burden on inter-regional coal transport, as well as coping with global climate change

  9. 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…

  10. 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…

  11. Nonproliferation of nuclear weapons and IAEA safeguards: A Chinese perspective

    International Nuclear Information System (INIS)

    Ever since embarking upon the path of reform and opening-up to the outside world in the late 1970s, China's nuclear nonproliferation policy has shaped considerably. As a result, China has become more integrated with and more accommodating of the international nonproliferation regime. China acceded to the NPT in 1992 and contributed positively to its indefinite extension in 1995. As a member state to the IAEA and a state party to the NPT, China has all along stood firm on nuclear nonproliferation. First, China does not advocate, encourage, or engage in nuclear weapons proliferation. Second, China does not help any other countries develop nuclear weapons. Third, China does not provide any assistance to any nuclear facilities outside IAEA safeguards. Against such a backdrop, China has enunciated and pursued the following principles with regard to nuclear export. 1) The export is used solely for peaceful purposes. 2) The export must be subject to IAEA safeguards. 3) The export should not transferred to a third country without China consent. As a stepping-stone, China has improved its export control systems on sensitive items and technologies, and has promulgated a series of laws and regulations in recent years. In this regard, the achievements are noteworthy. In May 1997, the Chinese Government unveiled a Circular on Strict Observations of National Nuclear Export Policy. The circular in explicit terms reiterated that, nuclear materials, equipment and related technologies, as well as non-nuclear materials to be used by reactors and nuclear-related dual-use equipment, materials and related technologies, could not be provided to or used in nuclear facilities beyond IAEA safeguards in the event of export. In September 1997, the Chinese Government promulgated Regulations on Nuclear Control. Among the provisions contained in the Regulations, the following points are most outstanding. 1) Any assistance to nuclear facilities not subject to IAEA safeguards shall be prohibited

  12. 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

  13. 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...

  14. 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…

  15. 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…

  16. 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...

  17. Familial Contribution to Chinese American Children's Self-Regulated Learning during the Early School Years

    OpenAIRE

    Zhao, Shuheng

    2013-01-01

    This dissertation examined how Chinese American children's everyday family experiences contributed to their self-regulated learning during the early school years. A total of 154 immigrant Chinese parents participated in this study and completed nine sets of multi-point rating questionnaires on a secured website. A series of analysis of covariance and hierarchical regressions were performed. Results provided the first empirical evidence that children's participation in family rituals and routi...

  18. 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...

  19. 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...

  20. 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. PMID:21747993

  1. Family therapy in the Forbidden City: a review of Chinese journals from 1978 to 2006.

    Science.gov (United States)

    Sim, Timothy; Hu, Chiyi

    2009-12-01

    This article provides a glimpse into the development of family therapy in China, by reviewing family therapy articles written in Chinese and published in journals in China that are not, therefore, readily accessible to the international community. A content analysis of journals published between 1978 and 2006 revealed 199 family therapy articles in 109 Chinese journals. Most of the studies were conducted by psychiatry or medical professionals, and were based on general systems theory or a systemic family therapy model. The articles focused on the promotion of family therapy theories and interventions in China, but did not specify the application of theory to specific clientele or symptoms. After the year 2000, a threefold increase in the number of family therapy publications was noted. These papers included the introduction of additional theories, but did not include critical assessment of the applicability of Western family therapy models to Chinese families. The researchers noted an absence of articles that identified Chinese approaches to family therapy, and a paucity of papers on gender, professional reflection, and the therapy process. The article concludes that there is room for improvement in the quality of family therapy publications in China, and that gains may be made by interdisciplinary collaboration among academics and practitioners. PMID:19930439

  2. Status of Chinese NPP Industry and Nuclear Fuel Cycle Policy

    International Nuclear Information System (INIS)

    China still extended their experiences to both domestic and overseas so far. Chinese State Council approved its 'Medium and Long-term Nuclear Power Development Plan' in November 2007, indicating further definition for nuclear energy as indispensable energy option and future self-reliance development of nuclear industry. China intends to become self-sufficient not only in NPPs capacity, but also in the fuel production for all those plants. There are currently 17 NPPs in operation, and 28 NPPs under construction. However, domestic uranium mining supplying is currently less than a quarter of nuclear fuel demands. This paper investigated and summarized the updated status of NPP industry in China and Nuclear Fuel Cycle(NFC) policy. There still remain a number of technical innovation and comprehensive challenges for this nuclear developing country in the long-term, but its large ambitions and dramatic improvements toward future should not be ignored. As shown in this paper, the most suitable approach for China to achieve both environmentally-friendly power supplying and increasing energy demands meeting simultaneously must be considered. Nuclear energy now was recognized as the most potential and optimal way of energy supply system. In addition, to accommodate such a high-speed NPP construction in China, it should also focus on when and how spent nuclear fuel should be reprocessed. Finally, the nuclear back-end fuel cycle policy should be established, taking into accounts of all costs, uranium resource security, spent fuel management, proliferation resistance and environmental impact

  3. Updated chinese evaluated nuclear parameter library (CENPL-2)

    International Nuclear Information System (INIS)

    The Chinese evaluated nuclear parameter library (CENPL) for the model calculations of nuclear reactions has been developed in the past ten years. The International Atomic Energy Agency has constructed a reference input parameter library (RIPL) for the calculations of nuclear reaction data in the meantime. All data files of CENPL are chosen as the RIPL starter files. The model parameters estimated and recommended by our group are selected as recommended ones. The updated CENPL (CENPL-2) is being developed at present. On the one hand, the data are tested, updated and expanded. We follow especially with interest the studies on model parameters, which can suit the nuclear data calculations of higher energy range and unstable nuclide range. On the other hand, the retrieval code and net software of CENPL are developed, the web services will be carried out

  4. 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…

  5. 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

  6. 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…

  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. The Rate of Physical Child Abuse in Chinese Families: A Community Survey in Hong Kong.

    Science.gov (United States)

    Tang, Catherine So-kum

    1998-01-01

    A telephone survey of 1,019 Chinese Hong Kong households found families showed slightly lower rates of minor violence than U.S. families, but higher rates of severe violence toward children. The highest rate of severe violence occurred among boys or children ages 3-6. Female caregivers were the most likely abusers. (Author/CR)

  9. 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

  10. 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…

  11. Living in the Nuclear Age: Families and the threat of nuclear war

    Energy Technology Data Exchange (ETDEWEB)

    Demorest, D.M.

    1991-01-01

    The main interest of this research was to add to the body of knowledge about the possible psychological impact of the nuclear threat on the family unit. Data were utilized from the Family Interaction, Stress and Nuclear War study conducted by Jules Riskin, M.D. and Victoria Dickerson, Ph.D. at the Mental Research Institute in Palo Alto, California. The sample consisted of ten families who were recruited for this study. In order to examine family-interaction variables and the impact of the threat of nuclear war, a standardized semi-structured family interview was conducted. Topics ranged from ordinary activities to external, non-nuclear stresses such as landslides or hurricanes, to the topic of nuclear war. A distinction is drawn between a family's level of nuclear concern while they discuss nuclear issues and a family's level of nuclear concern when viewed in the context of their overall pattern of family communication. In terms of family coping, family nuclear concern was found to be significantly related to two family-coping strategies. Families who utilized the coping strategies of seeking spiritual support and mobilizing the family to acquire and accept help were significantly less concerned about the threat of nuclear war.

  12. Living in the Nuclear Age: Families and the threat of nuclear war

    International Nuclear Information System (INIS)

    The main interest of this research was to add to the body of knowledge about the possible psychological impact of the nuclear threat on the family unit. Data were utilized from the Family Interaction, Stress and Nuclear War study conducted by Jules Riskin, M.D. and Victoria Dickerson, Ph.D. at the Mental Research Institute in Palo Alto, California. The sample consisted of ten families who were recruited for this study. In order to examine family-interaction variables and the impact of the threat of nuclear war, a standardized semi-structured family interview was conducted. Topics ranged from ordinary activities to external, non-nuclear stresses such as landslides or hurricanes, to the topic of nuclear war. A distinction is drawn between a family's level of nuclear concern while they discuss nuclear issues and a family's level of nuclear concern when viewed in the context of their overall pattern of family communication. In terms of family coping, family nuclear concern was found to be significantly related to two family-coping strategies. Families who utilized the coping strategies of seeking spiritual support and mobilizing the family to acquire and accept help were significantly less concerned about the threat of nuclear war

  13. 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.…

  14. Study on evaluation system for Chinese nuclear power plants

    Institute of Scientific and Technical Information of China (English)

    LI Song-bai; CHENG Jian-xiu

    2006-01-01

    This paper analyzes the meaning, structure, function and assessment methods of a nuclear power plant evaluation system, and the similarities and differences among various assessment methods. Based on this research an integrated and detailed suggestion is proposed on how to establish and improve internal and external evaluation systems for Chinese NPPs. It includes: to prepare and implement the nuclear power plant operational management program, to build an integrated performance indicator system, to improve the present audit system and conduct the comprehensive evaluation system, to set up and implement the integrated corrective action system, to position precisely the status of operation assessment of nuclear power plants, to conduct the assessment activities on constructing NPP, to initiate the specific assessment in some important areas, to establish industry performance indicator system, to improve the assessment methods, to share the assessment results, to select,cultivate and certify the reviewers, and to enhance international communication and cooperation.

  15. 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…

  16. Living With Dementia: An Exploratory Study of Caregiving in a Chinese Family Context.

    Science.gov (United States)

    Wong, Oi Ling; Kwong, Ping Sum; Ho, Candis Ka Yan; Chow, Susanna Miu Yee; Kwok, Timothy; Wong, Bel; Ho, Vennus; Lau, Andrew; Ho, Florence

    2015-01-01

    This qualitative study explored themes that described families taking care of elderly relatives with dementia in Chinese society. Ten families were invited for two in-depth family interviews involving spousal caregivers, child caregivers, and care recipients. Five themes resulted: positive affection as coping strategies, power and control in the caregiving relationship, adult children's involvement in caregiving, sibling rivalry, and intergenerational conflicts. The ways these themes functioned and helped in dementia care, the research implications, and limitations are discussed. PMID:26399493

  17. 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...

  18. 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

  19. Intergenerational Experiences of Discrimination in Chinese American Families: Influences of Socialization and Stress

    OpenAIRE

    Benner, Aprile D.; Kim, Su Yeong

    2009-01-01

    In this longitudinal study, we investigated the mechanisms by which Chinese American parents’ experiences of discrimination influenced their adolescents’ ethnicity-related stressors (i.e., cultural misfit, discrimination, attitudes toward education). We focused on whether parents’ ethnic-racial socialization practices and perpetual foreigner stress moderated or mediated this relationship. Participants were 444 Chinese American families. Results indicated no evidence of moderation, but we obse...

  20. Peer Relations of Adolescents from Nuclear and Separated Families.

    Science.gov (United States)

    Noack, Peter; Krettek, Christine; Walper, Sabine

    2001-01-01

    Examined peer relations of young people from nuclear families, step families, and single-parent families. Findings suggest peer relations were affected by parental separation only to a minor extent as compared to, e.g. gender- or age-specific effects. A central aspect of friendship quality, however, namely admiration by friends, clearly suffered…

  1. International Patenting Strategies of Chinese Residents: an analysis of foreign-oriented patent families

    OpenAIRE

    Mila Kashcheeva; Sacha Wunsch-Vincent; Hao Zhou

    2014-01-01

    In terms of the number of its patent applications, in 2012 China has emerged as the country with the largest IP office in the world. The performance of the Chinese IP system is thus increasingly in the spotlight. While significant economic studies have been devoted to the rise of domestic patenting in China, hardly any study has focused on Chinese patent filings in foreign countries. This paper analyzes Chinese patenting abroad by using WIPO’s foreign-oriented patent family dataset and a resp...

  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. 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.

  4. Economic development with limited supplies of family labor: Chinese peasant families in balancing demographic and economic requisites.

    Science.gov (United States)

    Chang, K S

    1991-07-01

    Family planning (FP) in rural China, particularly the ramifications of the 1-child policy, has profound implications and ramifications for family-centered social and economic life in addition to demographic control. Under a constitutionally endorsed policy of strict birth control, favorable economic opportunities coexisted with the problem of familial labor shortages. Recent reform policies have led to a more relaxed FP environment. The Chinese state is in a dilemma between the need to allow peasant's autonomy in determining the familial work situation and the population pressure on the limited cultivated land. The Chinese experience of rural reform is examined in terms of the complex relationship between population change and economic development which are influenced by the production and welfare activities of the peasant family. The theoretical argument is that a family reliant strategy of economic reform undercuts the effectiveness of population control programs. The ultimate solution lies with sustained industrialization with high labor absorption. National trends and the Dahe People's Commune/Township experience are analyzed. Discussion is focused on the dilemma of FP and family production, old and new evidence of family size and economic performance, welfare outcome of family size, the role of the state in altering the demographic balance sheet, and the strategic response of peasant families to bring families of old designs back and urban migration and proletarianization. It is concluded that there is growing understanding that the causal relationships between population growth and economic development do not clearly support universal population control. Human social organization, not the man/land ratio, shapes the consequences of population growth. The implications for the Malthusian vs. Marxian debate for developing countries are that the resources/population imbalance needs to consider more carefully the human organizational factors. Mao's notions that a

  5. 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...

  6. Leber's hereditary optic neuropathy is associated with the mitochondrial ND6 T14484C mutation in three Chinese families

    International Nuclear Information System (INIS)

    We report here the clinical, genetic, and molecular characterization of three Chinese families with maternally transmitted Leber's hereditary optic neuropathy (LHON). Clinical and genetic evaluations revealed the variable severity and age-of-onset in visual impairment in these families. In the affected matrilineal relatives, the loss of central vision is bilateral, the fellow eye becoming affected either simultaneously (45%) or sequentially (55%). The penetrances of vision loss in these pedigrees were 27%, 50%, and 60%, respectively. The age-at-onset of vision loss in these families was 14, 19, and 24 years, respectively. Furthermore, the ratios between affected male and female matrilineal relatives were 1:1, 1:1.2, and 1:2, respectively. Mutational analysis of mitochondrial DNA revealed the presence of homoplasmic ND6 T14484C mutation, which has been associated with LHON. The incomplete penetrance and phenotypic variability implicate the involvement of nuclear modifier gene(s), environmental factor(s) or mitochondrial haplotype(s) in the phenotypic expression of the LHON-associated T14484C mutation in these Chinese pedigrees

  7. 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...

  8. Place of dairy products in the Chinese-American family food system.

    Science.gov (United States)

    Lv, Nan; Brown, J Lynne

    2010-08-01

    Chinese Americans have a high risk of osteoporosis and their calcium intake is substantially below the daily recommendation. However, little has been done to reduce the risk of this hard-to-reach population. This theory-based qualitative study explored how first-generation Chinese American couples with children view dairy products, how they use them in their family food system, and how these uses influence their dietary behavior or intake. Twenty couples, recruited from weekend Chinese schools at three locations in Pennsylvania, were interviewed. Taste, texture, and use of additives and growth hormones appeared to be more important influences on dairy choice than lactose intolerance. In these families, parental use of food rules and power to influence food patterns affected family flexibility about dairy use. Father's power, his views of dairy products, and his preference for Chinese-based dinners had a greater influence than those of his wife or children on the use of dairy-based dinner dishes. In contrast, choices at breakfast or lunch and for snacks were more flexible and could include dairy products. Nutrition educators can encourage introduction of dairy products into the traditional dietary pattern of Chinese Americans by offering opportunities to taste unfamiliar dairy products, demonstrating use of dairy products to prepare familiar foods, including both parents in any intervention or at least in tasting recipes, and providing information on importance of calcium to bone health and amount of calcium needed from reputable sources. PMID:20656096

  9. 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...

  10. TSC1 R509X Mutation in a Chinese Family with Tuberous Sclerosis Complex.

    Science.gov (United States)

    Zhang, Yu; Gan, Jing; Pu, Zheng; Xu, Ming ming; Wang, Li feng; Li, Yu hua; Liu, Zhen guo

    2015-06-01

    Tuberous sclerosis complex is a rare autosomal dominant disorder caused by mutations in either of TSC1 and TSC2 genes. Tuberous sclerosis complex presents diverse clinical characteristics, and either of TSC1 and TSC2 genes shows a wide range of mutations in their coding regions. However, the correlation between genotype and phenotype is yet unknown. We describe the clinical characteristics of a Chinese family with TSC1 gene mutation and present a literature review of Chinese patients with tuberous sclerosis complex gene mutation reported since 2004. This is the first report of TSC1 R509X mutation in a Chinese family, which might deepen our insight into the clinical and molecular pathogenesis of tuberous sclerosis complex. PMID:25900779

  11. 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…

  12. Coming into an Inheritance: Family Support and Chinese Heritage Language Learning

    Science.gov (United States)

    Mu, Guanglun Michael; Dooley, Karen

    2015-01-01

    The critical role that family plays in Chinese Heritage Language learning (CHLL) has gained increasing attention from psychological, political and sociological scholarships. Guided by Bourdieu's notion of "habitus", our mixed methods sociological study firstly addresses the need for quantitative evidence on the relationship between…

  13. 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

  14. 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.…

  15. 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…

  16. 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…

  17. 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…

  18. 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…

  19. Families and the prospect of nuclear attack/holocaust

    Energy Technology Data Exchange (ETDEWEB)

    Marciano, T.; Sussman, M.B.

    1986-01-01

    This volume addresses the issues attending the continuing threat of a nuclear holocaust and the effect this threat has on the behavior of families. It examines topics such as denial, involvement in community program social movements and other political actions.

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

    International Nuclear Information System (INIS)

    Highlights: ► In our study, all of the patients were of Han Chinese ethnicity, which were rarely reported. ► We identified three novel PHEX gene mutations in four unrelated families with XLH. ► We found that the relationship between the phenotype and genotype of the PHEX gene was not invariant. ► 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. 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.

  2. Goal Direction and Effectiveness, Emotional Maturity, and Nuclear Family Functioning

    Science.gov (United States)

    Klever, Phillip

    2009-01-01

    Differentiation of self, a cornerstone concept in Bowen theory, has a profound influence over time on the functioning of the individual and his or her family unit. This 5-year longitudinal study tested this hypothesis with 50 developing nuclear families. The dimensions of differentiation of self that were examined were goal direction and…

  3. 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.

  4. 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

  5. Family structure, parent-child conversation time and substance use among Chinese adolescents

    Directory of Open Access Journals (Sweden)

    Mak Kwok-Kei

    2010-08-01

    Full Text Available Abstract Background The family plays a vital role in shaping adolescent behaviours. The present study investigated the associations between family structure and substance use among Hong Kong Chinese adolescents. Methods A total of 32,961 Form 1 to 5 (grade 7-12 in the US Hong Kong students participated in the Youth Smoking Survey in 2003-4. An anonymous questionnaire was used to obtain information about family structure, daily duration of parent-child conversation, smoking, alcohol drinking and drug use. Logistic regression was used to calculate the adjusted odds ratios (OR for each substance use by family structure. Results Adjusting for sex, age, type of housing, parental smoking and school, adolescents from non-intact families were significantly more likely to be current smokers (OR = 1.62, weekly drinkers (OR = 1.72 and ever drug users (OR = 1.72, with significant linear increases in ORs from maternal, paternal to no-parent families compared with intact families. Furthermore, current smoking (OR = 1.41 and weekly drinking (OR = 1.46 were significantly more common among adolescents from paternal than maternal families. After adjusting for parent-child conversation time, the ORs for non-intact families remained significant compared with intact families, but the paternal-maternal differences were no longer significant. Conclusions Non-intact families were associated with substance use among Hong Kong Chinese adolescents. The apparently stronger associations with substance use in paternal than maternal families were probably mediated by the poorer communication with the father.

  6. 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

  7. 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.

  8. The experience of Chinese immigrant women in caring for a terminally ill family member in Australia.

    Science.gov (United States)

    Heidenreich, Mary T; Koo, Fung Kuen; White, Kate

    2014-01-01

    The Chinese community, a heterogeneous, highly visible non-English speaking ethnic group in Australia, remains mostly hidden and underrepresented in palliative care service delivery along with participation in health research despite being the fastest growing such group in the country. There is a lack of Australian research information concerning the impact of migration on the caregiving experience of women carers within the Chinese cultural framework and the Australian palliative care context. This paper aims to explore the influence of Chinese cultural norms and immigration on the experience of immigrant women of Chinese ancestry caring for a terminally ill family member at home in Sydney. This study also seeks to identify factors that may present access barriers to palliative care support services. A qualitative approach was used in this study. Data were collected from semi-structured interviews with five home-based Chinese women carers and were analysed using thematic analysis. Findings identified that the participants found being a carer is a lonely and isolating experience. Sources of isolation and loneliness included social isolation experienced as a solitary carer without meaningful family and social relationships; loss of familiar cultural understandings and family values; and emotional isolators expressed in response to the physical and emotional role commitment and other constraints. The study results suggest the need for palliative care educational programmes designed to help nurses to understand the impact of cultural background within the palliative care context. Results also indicate that health care professionals should provide culturally appropriate and competent palliative care services, sensitive to the diverse socio-cultural influences and individual needs of Chinese migrants. PMID:25632724

  9. 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

  10. The establishment and practices of TSOs for Chinese nuclear regulatory body

    International Nuclear Information System (INIS)

    Based on the requirements of Agency's safety standard GS-R-1 'Legal and governmental infrastructure for nuclear, radiation, radioactive waste and transport safety' and more than twenty years' practices in China, this paper presents the development of Technical Support Organizations (TSOs) of the Chinese nuclear regulatory body from the points of view of the practices, features, functions, challenges faced and counter measures etc.. The TSOs of the Chinese nuclear regulatory body have been founded and enhanced according to the continuously increased responsibilities and functions on nuclear safety supervision, and are aiming at providing full scale technical supports to the Chinese nuclear regulatory body in the areas of law making, nuclear safety review and evaluation, nuclear safety inspection, emergency preparedness and response, independent monitoring and check-up, scientific research, personnel training, quality assurance, information system establishing, international cooperation etc. (author)

  11. 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...

  12. Impacts of Geoengineering and Nuclear War on Chinese Agriculture

    Science.gov (United States)

    Xia, L.; Robock, A.

    2011-12-01

    Climate is one of the most important factors determining crop yields and world food supplies. To be well prepared for possible futures, it is necessary to study yield changes of major crops under different climate scenarios. Here we consider two situations: stratospheric sulfate geoengineering and nuclear war. Although we certainly do not advocate either scenario, we cannot exclude the possibilities: if global warming is getting worse, we might have to deliberately manipulate global temperature; if nuclear weapons still exist, we might face a nuclear war catastrophe. Since in both scenarios there would be reductions of temperature, precipitation, and insolation, which are three controlling factors on crop growth, it is important to study food supply changes under the two cases. We conducted our simulations for China, because it has the highest population and crop production in the world and it is under the strong influence of the summer monsoon, which would be altered in geoengineering and nuclear war scenarios. To examine the effects of climate changes induced by geoengineering and nuclear war on Chinese agriculture, we use the DSSAT crop model. We first evaluate the model by forcing it with daily weather data and management practices for the period 1978-2008 for all the provinces in China, and compare the results to observations of the yields of major crops in China (middle season rice, winter wheat, and maize). Then we perturbed observed weather data using climate anomalies for geoengineering and nuclear war simulations using NASA GISS ModelE. For stratospheric geoengineering, we consider the injection of 5 Tg SO2 per year into the tropical lower stratosphere. For the nuclear war scenario, we consider the effects of 5 Tg of soot that could be injected into the upper troposphere by a war between India and Pakistan using only 100 Hiroshima-size atomic bombs dropped on cities. We perturbed each year of the 31-year climate record with anomalies from each year of

  13. 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.

  14. 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.

  15. 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

  16. 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

  17. 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

  18. 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.

  19. A novel GPR143 splicing mutation in a Chinese family with X-linked congenital nystagmus

    OpenAIRE

    Hu, Junjie; Liang, Desheng; Xue, Jinjie; Liu, Jing; Wu, Lingqian

    2011-01-01

    Purpose The purpose of the current research was to detect the underlying genetic defect in a Chinese family with X-linked congenital nystagmus and perform prenatal genetic diagnosis for their current pregnancy. Methods A common clinical examination and an ophthalmic evaluation were performed on the proband, one carrier, and one unaffected member. Mutation analysis of the G protein-coupled receptor 143 (GPR143) and four-point-one (4.1), ezrin, radixin, moesin (FERM) domain-containing 7 (FRMD7)...

  20. Whole Exome Sequencing Identifies Recessive PKHD1 Mutations in a Chinese Twin Family with Caroli Disease

    OpenAIRE

    Hao, Xiwei; Liu, Shiguo; Dong, Qian; Zhang, Hong; Zhao, Jing; Su, Lin

    2014-01-01

    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 se...

  1. Parental Expressivity and Parenting Styles in Chinese Families: Prospective and Unique Relations to Children's Psychological Adjustment.

    Science.gov (United States)

    Chen, Stephen H; Zhou, Qing; Eisenberg, Nancy; Valiente, Carlos; Wang, Yun

    2011-01-01

    OBJECTIVES: Parents from different cultures differ in how frequently they express emotions. However, the generalizability of the relations between parental expressivity and child adjustment in non-Western cultures has not been extensively studied. The goal of the present study was to investigate prospective relations between parental expressivity within the family (positive, negative dominant, and negative submissive expressivity) and Chinese children's psychological adjustment, above and beyond parenting styles. DESIGN: The study used two waves (3.8 years apart) of longitudinal data from a sample (n= 425) of children in Beijing (mean ages = 7.7 years at T1 and 11.6 years at T2). Parental expressivity and parenting styles were self-reported. To reduce the potential measurement overlap, items that tap parental expression of emotions toward the child were removed from the parenting style measure. Children's adjustment was measured with parents', teachers', and peers' or children's reports. RESULTS: Consistent with findings with European American samples, parental negative dominant expressivity uniquely and positively predicted Chinese children's externalizing problems controlling for prior externalizing problems, parenting styles, and family SES. Neither parental expressivity nor parenting styles uniquely predicted social competence. CONCLUSIONS: Despite previously reported cultural differences in the mean levels of parental expressivity, some of the socialization functions of parental expressivity found in Western countries can be generalized to Chinese families. Although parental expressivity and parenting styles are related constructs, their unique relations to child's adjustment suggest that they should be examined as distinct processes. PMID:23226715

  2. 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.

  3. 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

  4. 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.

  5. 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.

  6. 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...

  7. 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.

  8. 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.

  9. The Nuclear Family: Can It Survive the Storm?

    Science.gov (United States)

    Perlman, Matthew

    The nuclear family as a vital support system is being undermined by a wide variety of direct and indirect factors. These factors include rapid technological advances, changes in socially accepted child-rearing techniques, changes in moral values, changes in acceptable sexual practices, effects of an improved educational system, effects of the…

  10. Television Intertextuality and the Discourse of the Nuclear Family.

    Science.gov (United States)

    Naficy, Hamid

    1989-01-01

    Presents an intertextual approach to reading television. Investigates how the heterosexual nuclear family and its various simulations are circulated within the intertextual flow of television, articulating and distributing "cultural capital." Analyzes a 39-minute segment of television text that includes commercials, news briefs, and the first…

  11. Identification of a novel mutation in the presenilin 1 gene in a Chinese Alzheimer's disease family.

    Science.gov (United States)

    Deng, Bo; Lian, Yan; Wang, Xin; Zeng, Fan; Jiao, Bin; Wang, Ye-Ran; Liang, Chun-Rong; Liu, Yu-Hui; Bu, Xian-Le; Yao, Xiu-Qing; Zhu, Chi; Shen, Lu; Zhou, Hua-Dong; Zhang, Tao; Wang, Yan-Jiang

    2014-10-01

    This study has identified a gene mutation in a Chinese family with Alzheimer's disease (AD). Family members were screened by a set of medical examinations and neuropsychological tests. Their DNA was extracted from blood cells and sequenced for gene mutation in the amyloid precursor protein (APP), the presenilin 1 (PS1) and the presenilin 2 (PS2) genes. Genetic analysis showed that the AD patients in the family harbored a T to G missense mutation at the position 314 in exon 4 of the PS1 gene, resulting in a change of F105C in amino acid sequence. Clinical manifestation of these patients included memory loss, counting difficulty, personality change, disorientation, dyscalculia, agnosia, aphasia, and apraxia, which was similar to that of the familial AD (FAD) patients harboring other PS1 mutations. We intend to add a novel mutation F105C of the PS1 gene to the pool of FAD mutations. With the current available genetic data, mutations of the PS1 gene account for the majority of gene mutations in Chinese FAD. PMID:24737487

  12. The R and D of a chinese decision support system for nuclear emergencies

    International Nuclear Information System (INIS)

    This paper presents some progress made in the R and D of a Chinese decision support system for nuclear emergencies. The achievement mainly includes (1) understanding of the operation principles of RODOS system, and (2) application study of relevant protective action models taking Daya Bay Nuclear Power Plant as a reference site. Since the introduction of RODOS in 1997, the authors have achieved significant progress in the operation management of this system. Especially, the authors have successfully realized the modification, compiling and program integration of source codes in the environments of RODOS. This is an important technical breakthrough towards the establishment of a Chinese decision support system for nuclear emergencies

  13. Extremely low penetrance of hearing loss in four Chinese families with the mitochondrial 12S rRNA A1555G mutation

    International Nuclear Information System (INIS)

    Mutations in mitochondrial DNA (mtDNA) have been found to be associated with sensorineural hearing loss. We report here the clinical, genetic, and molecular characterization of four Chinese pedigrees with aminoglycoside-induced and nonsyndromic hearing impairment. Clinical evaluation revealed the variable phenotype of hearing impairment including audiometric configuration in these subjects, although these subjects share some common features: bilateral and sensorineural hearing impairment. Strikingly, these Chinese pedigrees exhibited extremely low penetrance of hearing loss (5.2%, 4.8%, 4.2%, and 13.3%, respectively, and with an average 8% penetrance). In particular, four of all five affected matrilineal relatives of these pedigrees had aminoglycoside-induced hearing loss. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the distinct sets of mtDNA polymorphism, in addition to the identical homoplasmic A1555G mutation, associated with hearing impairment in many families from different genetic backgrounds. The fact that mtDNA of those pedigrees belonged to different haplogroups R9a, N9a, D4a, and D4 suggested that the A1555G 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. These data imply that the nuclear background or/and mitochondrial haplotype may not play a significant role in the phenotypic expression of the A1555G mutation in these Chinese pedigrees. However, aminoglycoside appears to be a major modifier factor for the phenotypic manifestation of the A1555G mutation in these Chinese families

  14. 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. 

  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. 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

  17. CENDL-2 update 95. The Chinese evaluated nuclear data library for neutron reaction data by the Chinese Nuclear Data Center 1991/1995. Summary documentation

    International Nuclear Information System (INIS)

    This document summarizes the contents of CENDL-2.1, the 1991 version of the evaluated neutron reaction data library by the Chinese Nuclear Data Center which was updated and supplemented in 1995. The present update contains an increase from 54 to 67 materials, and revised and supplementary data for almost all materials. The entire library or retrievals of selected materials are available on magnetic tape from the IAEA Nuclear Data Section upon request, costfree. The library is also available online within NDIS, the IAEA Nuclear Data Information System. (author)

  18. 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.

  19. Exome sequencing of 18 Chinese families with congenital cataracts: a new sight of the NHS gene.

    Directory of Open Access Journals (Sweden)

    Wenmin Sun

    Full Text Available PURPOSE: The aim of this study was to investigate the mutation spectrum and frequency of 34 known genes in 18 Chinese families with congenital cataracts. METHODS: Genomic DNA and clinical data was collected from 18 families with congenital cataracts. Variations in 34 cataract-associated genes were screened by whole exome sequencing and then validated by Sanger sequencing. RESULTS: Eleven candidate variants in seven of the 34 genes were detected by exome sequencing and then confirmed by Sanger sequencing, including two variants predicted to be benign and the other pathogenic mutations. The nine mutations were present in 9 of the 18 (50% families with congenital cataracts. Of the four families with mutations in the X-linked NHS gene, no other abnormalities were recorded except for cataract, in which a pseudo-dominant inheritance form was suggested, as female carriers also had different forms of cataracts. CONCLUSION: This study expands the mutation spectrum and frequency of genes responsible for congenital cataract. Mutation in NHS is a common cause of nonsyndromic congenital cataract with pseudo-autosomal dominant inheritance. Combined with our previous studies, a genetic basis could be identified in 67.6% of families with congenital cataracts in our case series, in which mutations in genes encoding crystallins, genes encoding connexins, and NHS are responsible for 29.4%, 14.7%, and 11.8% of families, respectively. Our results suggest that mutations in NHS are the common cause of congenital cataract, both syndromic and nonsyndromic.

  20. 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.

  1. 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

  2. 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

  3. 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.

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

    Directory of Open Access Journals (Sweden)

    Fang Hu

    2014-10-01

    Full Text Available 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.2417_2418insG:p.E806fs, 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.2417_2418insG:p.E806fs, 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 an effective and economic approach for the comprehensive molecular diagnosis of RP.

  5. 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.

  6. Aminoglycoside-induced and non-syndromic hearing loss is associated with the G7444A mutation in the mitochondrial COI/tRNASer(UCN) genes in two Chinese families

    International Nuclear Information System (INIS)

    We report here the clinical, genetic, and molecular characterization of two Chinese families with aminoglycoside induced and non-syndromic hearing impairment. Clinical and genetic evaluations revealed the variable severity and age-of-onset in hearing impairment in these families. Strikingly, there were extremely low penetrances of hearing 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 G7444A mutation associated with hearing loss. Indeed, the G7444A mutation in the CO1 gene and the precursor of tRNASer(UCN) gene is present in homoplasmy only in the maternal lineage of those pedigrees but not other members of these families and 164 Chinese controls. Their mitochondrial genomes belong to the Eastern Asian haplogroups C5a and D4a, respectively. In fact, the occurrence of the G7444A mutation in these several genetically unrelated subjects affected by hearing impairment strongly indicates that this mutation is involved in the pathogenesis of hearing impairment. However, there was the absence of other functionally significant mtDNA mutations in two Chinese pedigrees carrying the G7444A mutation. Therefore, nuclear modifier gene(s) or aminoglycoside(s) may play a role in the phenotypic expression of the deafness-associated G7444A mutation in these Chinese pedigrees

  7. 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

  8. Chinese perceptions of the utility of nuclear weapons. Prospects and potential problems in disarmament

    International Nuclear Information System (INIS)

    The Obama administration is putting nuclear disarmament back on the agenda. In a major speech in Prague in April 2009, he envisioned a world free of nuclear weapons and called on nations to work toward that end. Reversing years of setbacks and stagnation, Washington and Moscow agreed on renewing negotiation on extending the START I Treaty last year and concluded the New START treaty in March 2010. The 2010 Nuclear Posture Review indicates a shift in U.S. nuclear doctrine in that Washington pledges not to use nuclear weapons against non-nuclear weapons states that abide by the Nuclear Nonproliferation Treaty. The prospects of nuclear disarmament look much promising as the momentum generated could also exert pressure on the second-tier nuclear-weapon States: Britain, France, and China. Beijing's responses to these developments have been favorable, viewing them as positive contribution to international nuclear disarmament and nonproliferation. In particular China endorses President Obama's call for securing global nuclear materials and safeguarding vulnerable nuclear facilities to prevent nuclear terrorism. However, Chinese perspectives and policies on important international nuclear arms control and disarmament, and on the role of nuclear weapons and nuclear deterrence remain largely declaratory and less specific on its own commitments and participation. Chinese analyses, at the same time, point out the difficulties ahead on the road toward a nuclear weapons free world. Indeed, rhetoric notwithstanding, Beijing continues to modernize its nuclear arsenal to develop a secure and reliable second-strike deterrence capability. This paper takes a careful look at China's perceptions of the role of nuclear weapons in its national security policy and defense posture. This is important because China is perceived to be the only country among the five original nuclear-weapon States that is actually expanding its nuclear arsenal, as indicated by the recent deployment of the long

  9. Aspects and features of the effects of Chinese nuclear explosion tests

    International Nuclear Information System (INIS)

    This paper documents the characteristics of the environmental effects of Chinese nuclear explosion tests done during 1973-1980, measured by Ge semiconductor detectors in Fukui prefecture, a coastal area faced to Japan Sea. The earlier explosions 1960's and 1970's are also taken into considerations. Fukui prefecture has reported all these investigation results and provided information especially on radionuclide analysis results. In this review paper, fallout amounts of days to years living radioactive nuclides, maximum and average concentration values for each environmental materials examined, and evaluation of internal and external radiation doses are presented in tables, thus aspects and features of Chinese nuclear explosion tests are described. (S. Ohno)

  10. Reexamining the relationships among dementia, stigma, and aging in immigrant Chinese and Vietnamese family caregivers.

    Science.gov (United States)

    Liu, Dandan; Hinton, Ladson; Tran, Cindy; Hinton, Devon; Barker, Judith C

    2008-09-01

    Prior literature emphasizes that Asian Americans with dementia may be particularly vulnerable to the stigma of chronic and severe mental illness. However, there is a dearth of empirical research to support this claim. This study examines the relationship of stigma and dementia in 32 qualitative interviews with Chinese and Vietnamese family caregivers. Stigma was a common theme in the interviews (91%). Further analysis revealed two sources: the stigma of chronic and severe mental illness and a stigma reflecting negative stereotypes of aging or the aged. Chinese and Vietnamese cultural views of normal aging are not unitary but accommodate different trajectories of aging, some more and some less desired. When applied to persons with dementia, a "normalized" but negative trajectory of aging carried with it significant stigma that was distinct from but in addition to the stigma of chronic and severe mental illness. Older Chinese and Vietnamese with dementia are thus at risk of experiencing multiple stigmas that include but go beyond the stigma associated with chronic and severe mental illness. PMID:18665444

  11. 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

  12. 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...

  13. 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.

  14. GPR143 Gene Mutations in Five Chinese Families with X-linked Congenital Nystagmus.

    Science.gov (United States)

    Han, Ruifang; Wang, Xiaojuan; Wang, Dongjie; Wang, Liming; Yuan, Zhongfang; Ying, Ming; Li, Ningdong

    2015-01-01

    The ocular albinism type I (OA1) is clinically characterized by impaired visual acuity, nystagmus, iris hypopigmentation with translucency, albinotic fundus, and macular hypoplasia together with normally pigmented skin and hair. However, it is easily misdiagnosed as congenital idiopathic nystagmus in some Chinese patients with OA1 caused by the G-protein coupled receptor 143 (GPR143) gene mutations. Mutations in the FERM domain-containing 7 (FRMD7) gene are responsible for the X-linked congenital idiopathic nystagmus. In this study, five Chinese families initially diagnosed as X-linked congenital nystagmus were recruited and patients underwent ophthalmological examinations. After direct sequencing of the FRMD7 and GPR143 genes, five mutations in GPR143 gene were detected in each of the five families, including a novel nonsense mutation of c.333G>A (p.W111X), two novel splicing mutations of c.360+1G>C and c.659-1G>A, a novel small deletion mutation of c.43_50dupGACGCAGC (p.L20PfsX25), and a previously reported missense mutation of c.703G>A (p.E235K). Optical coherence tomography (OCT) examination showed foveal hypoplasia in all the affected patients with nystagmus. Our study further expands the GPR143 mutation spectrum and contributes to the study of GPR143 molecular pathogenesis. Molecular diagnosis and optical coherence tomography (OCT) are two useful tools for differential diagnosis. PMID:26160353

  15. 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

  16. Research and development of the Chinese nuclear heating reactor

    International Nuclear Information System (INIS)

    The paper presents the significance of nuclear heat application in China as well as the development status, main design features and safety concepts of the nuclear heating reactor exploited by INET. (author). 3 refs, 3 figs, 1 tab

  17. Nuclear Threats and Nuclear Families: The Theme of Safety in Family Sitcoms.

    Science.gov (United States)

    Thompson, Robert J.; Burns, Gary

    The image of the family as a secure refuge against a threatening outside world has persisted in the television sitcom since its inception in the early 1950s. Although some television programs have dealt with major problems directly, most, including the sitcom, have completely ignored them. Harnessing hysteria over the possibility of a nuclear…

  18. 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.

  19. Computer Security at Nuclear Facilities. Reference Manual (Chinese Edition)

    International Nuclear Information System (INIS)

    The possibility that nuclear or other radioactive material could be used for malicious purposes cannot be ruled out in the current global situation. States have responded to this risk by engaging in a collective commitment to strengthen the protection and control of such material and to respond effectively to nuclear security events. States have agreed to strengthen existing instruments and have established new international legal instruments to enhance nuclear security worldwide. Nuclear security is fundamental in the management of nuclear technologies and in applications where nuclear or other radioactive material is used or transported. Through its Nuclear Security Programme, the IAEA supports States to establish, maintain and sustain an effective nuclear security regime. The IAEA has adopted a comprehensive approach to nuclear security. This recognizes that an effective national nuclear security regime builds on: the implementation of relevant international legal instruments; information protection; physical protection; material accounting and control; detection of and response to trafficking in such material; national response plans; and contingency measures. With its Nuclear Security Series, the IAEA aims to assist States in implementing and sustaining such a regime in a coherent and integrated manner. The IAEA Nuclear Security Series comprises Nuclear Security Fundamentals, which include objectives and essential elements of a State's nuclear security regime; Recommendations; Implementing Guides; and Technical Guidance. Each State carries the full responsibility for nuclear security, specifically: to provide for the security of nuclear and other radioactive material and associated facilities and activities; to ensure the security of such material in use, storage or in transport; to combat illicit trafficking and the inadvertent movement of such material; and to be prepared to respond to a nuclear security event. This publication is in the Technical Guidance

  20. Checking of seismic and tsunami hazard for coastal NPP of Chinese continent after Fukushima nuclear accident

    Institute of Scientific and Technical Information of China (English)

    Chang Xiangdong; Zhou Bengang; Zhao Lianda

    2013-01-01

    A checking on seismic and tsunami hazard for coastal nuclear power plant (NPP) of Chinese continent has been made after Japanese Fukushima nuclear accident caused by earthquake tsunami.The results of the checking are introduced briefly in this paper,including the evaluations of seismic and tsunami hazard in NPP siting period,checking results on seismic and tsunami hazard.Because Chinese coastal area belongs to the continental shelf and far from the boundary of plate collision,the tsunami hazard is not significant for coastal area of Chinese continent.However,the effect from tsunami still can' t be excluded absolutely since calculated result of Manila trench tsunami source although the tsunami wave is lower than water level from storm surge.The research about earthquake tsunami will continue in future.The tsunami warning system and emergency program of NPP will be established based on principle of defense in depth in China.

  1. Detection of Disease Genes by Use of Family Data. II. Application to Nuclear Families

    OpenAIRE

    Tu, I-Ping; Balise, Raymond R.; Whittemore, Alice S

    2000-01-01

    Two likelihood-based score statistics are used to detect association between a disease and a single diallelic polymorphism, on the basis of data from arbitrary types of nuclear families. The first statistic, the nonfounder statistic, extends the transmission/disequilibrium test to accommodate affected and unaffected offspring and missing parental genotypes. The second statistic, the founder statistic, compares observed or inferred parental genotypes with those of some reference population. In...

  2. Strikingly different penetrance of LHON in two Chinese families with primary mutation G11778A is independent of mtDNA haplogroup background and secondary mutation G13708A

    International Nuclear Information System (INIS)

    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

  3. 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.

  4. Radioactive fallout in France after the second Chinese nuclear explosion: atmospheric transfer processes

    International Nuclear Information System (INIS)

    The products released into the atmosphere by the second Chinese nuclear explosion were detected and measured in France during the months of May, June and July 1965. The main results are presented here and discussed. They are considered in particular in the light of the meteorological conditions as a function of the most recent hypotheses concerning transfer processes. (authors)

  5. 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

  6. 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

  7. 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.

  8. 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.

  9. Identification of RELN variation p.Thr3192Ser in a Chinese family with schizophrenia.

    Science.gov (United States)

    Zhou, Zhifan; Hu, Zhengmao; Zhang, Lu; Hu, Zhaoting; Liu, Haihong; Liu, Zhening; Du, Juan; Zhao, Jingping; Zhou, Lin; Xia, Kun; Tang, Bengsha; Shen, Lu

    2016-01-01

    Schizophrenia (SCZ) is a serious psychiatric disease with strong heritability. Its complexity is reflected by extensive genetic heterogeneity and much of the genetic liability remains unaccounted for. We applied a combined strategy involving detection of copy number variants (CNVs), whole-genome mapping, and exome sequencing to identify the genetic basis of autosomal-dominant SCZ in a Chinese family. To rule out pathogenic CNVs, we first performed Illumina single nucleotide polymorphism (SNP) array analysis on samples from two patients and one psychiatrically healthy family member, but no pathogenic CNVs were detected. In order to further narrow down the susceptible region, we conducted genome-wide linkage analysis and mapped the disease locus to chromosome 7q21.13-22.3, with a maximum multipoint logarithm of odds score of 2.144. Whole-exome sequencing was then carried out with samples from three affected individuals and one unaffected individual in the family. A missense variation c.9575 C > G (p.Thr3192Ser) was identified in RELN, which is known as a risk gene for SCZ, located on chromosome 7q22, in the pedigree. This rare variant, as a highly penetrant risk variant, co-segregated with the phenotype. Our results provide genetic evidence that RELN may be one of pathogenic gene in SCZ. PMID:27071546

  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. 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...

  12. Human prion disease with a G114V mutation and epidemiological studies in a Chinese family: a case series

    OpenAIRE

    Ye Jing; Han Jun; Shi Qi; Zhang Bao-Yun; Wang Gui-Rong; Tian Chan; Gao Chen; Chen Jian-Min; Li Cun-Jiang; Liu Zheng; Li Xian-Zhang; Zhang Lai-Zhong; Dong Xiao-Ping

    2008-01-01

    Abstract Introduction Transmissible spongiform encephalopathies are a group of neurodegenerative diseases of humans and animals. Genetic Creutzfeldt-Jakob diseases, in which mutations in the PRNP gene predispose to disease by causing the expression of abnormal PrP protein, include familial Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome and fatal familial insomnia. Case presentation A 47-year-old Han-Chinese woman was hospitalized with a 2-year history of progressive dement...

  13. 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.

  14. 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

  15. 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

  16. 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.

  17. 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.

  18. 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…

  19. 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.

  20. Attachment Stability in Children Aged 6 to 9 Years in Extended and Nuclear Families

    Science.gov (United States)

    Seven, Serdal; Ogelman, Hulya Gulay

    2012-01-01

    Research Findings: The main aim of this study was to identify whether the attachment security of children living in nuclear and extended families is stable from ages 6 to 9 years in a sample of Turkish children. In total, 54 children participated in the study, of whom 27 lived in nuclear families and the other 27 lived in extended families in Mus…

  1. Nuclear weapons and the Korean Peninsula: A Chinese perspective

    International Nuclear Information System (INIS)

    In 1991, North and South Korea issued a joint declaration on the denuclearisation of the peninsula. Such denuclearisation will undoubtedly be conductive to the security, stability and development of the region. The establishment of nuclear-weapon-free zone relies, in the first place, on the efforts of the countries in the region. China does not advocate, nor support nuclear proliferation. China's basic position concerning nuclear issue on the Korean peninsula is to seek to maintain peace and stability and to promote realisation of denuclearisation

  2. Choosing a standard reactor: International competition and domestic politics in Chinese nuclear policy

    International Nuclear Information System (INIS)

    China has ambitious plans to expand its nuclear power capacity. One of the policy goals that high-level policymakers have desired is to base the nuclear program on a standardized reactor design. However, this has not materialized so far. By examining its nuclear reactor choices for individual projects, we argue that China’s policymaking process has been greatly influenced by international competition and domestic politics. Multiple international nuclear vendors are intent upon maintaining their respective niches in the expanding Chinese reactor market, and they have used various forms of economic and political pressure to achieve their objectives. On the other hand, China’s policymaking process is fragmented and the shifting power balances among powerful domestic actors do not allow a fixed path to be followed. Further, because of the high costs and potential profits involved, nuclear reactor choices in China have been driven not just by technical considerations but also by foreign and trade policy objectives. All of these make it unlikely that China will standardize the reactor type it constructs in the near future. -- Highlights: ► China’s nuclear power policymaking has been fragmented and without central control. ► Multiple domestic actors have pursued independent agendas. ► International nuclear vendors have intensely competed for Chinese reactor contracts. ► Economic, political and foreign policy goals have driven reactor contract decisions. ► China is unlikely to construct only a standardized reactor design.

  3. Clinical evaluation and mitochondrial DNA sequence analysis in two Chinese families with aminoglycoside-induced and non-syndromic hearing loss

    International Nuclear Information System (INIS)

    We report here the clinical, genetic, and molecular characterization of two Chinese pedigrees with aminoglycoside-induced and non-syndromic hearing impairment. Clinical evaluation revealed the variable phenotype of hearing impairment including audiometric configuration in these subjects. Penetrances of hearing loss in BJ105 and BJ106 pedigrees are 67% and 33%, respectively. In particular, three of 10 affected matrilineal relatives of BJ105 pedigree had aminoglycoside-induced hearing loss, while seven affected matrilineal relatives in BJ105 pedigree and six affected matrilineal relatives in BJ106 pedigree did not have a history of exposure to aminoglycosides. Sequence analysis of the complete mitochondrial genomes in these pedigrees showed the identical homoplasmic A1555G mutation and distinct sets of mtDNA variants belonging to haplogroups F3 and M7b. These variants showed no evolutionary conservation, implying that mitochondrial haplotype may not play a significant role in the phenotypic expression of the A1555G mutation in these Chinese pedigrees. However, aminoglycosides and nuclear backgrounds appear to be major modifier factors for the phenotypic manifestation of the A1555G mutation in these Chinese families

  4. Nuclear forensics support. Technical guidance. Reference manual (Chinese Edition)

    International Nuclear Information System (INIS)

    Illicit trafficking of nuclear and other radioactive material has been an issue of concern since the first seizures in the early 1990s. By the end of 2004 Member States had confirmed 540 cases, while about another 500 remain unconfirmed. Most of the confirmed cases have a criminal dimension, even if they were not for known terrorist purposes. The attacks of September 2001 in the USA dramatically emphasized the requirement for the enhanced control and security of nuclear and other radioactive material. In response to a resolution by the IAEA General Conference in September 2002 the IAEA has adopted an integrated approach to protection against nuclear terrorism. This brings together IAEA activities concerned with the physical protection of nuclear material and nuclear installations, nuclear material accountancy, detection and response to illicit nuclear trafficking, the security and safety of radioactive sources, emergency response measures - including pre-emergency measures in Member States and at the IAEA - and the promotion of State adherence to relevant international instruments. States have the responsibility for combating illicit trafficking and the inadvertent movements of radioactive material. The IAEA cooperates with Member States and other international organizations in joint efforts to prevent incidents of illicit trafficking and inadvertent movements and to harmonize policies and measures by providing relevant advice through a range of technical assistance and documents. In this context, the IAEA issued a group of three technical documents, co-sponsored by the World Customs Organization, Europol and Interpol, on the inadvertent movement and illicit trafficking of radioactive material. The first is Prevention of the Inadvertent Movement and Illicit Trafficking of Radioactive Material (IAEA-TECDOC-1311), the second is called Detection of Radioactive Material at Borders (IAEA-TECDOC-1312) and the third is Response to Events Involving the Inadvertent Movement

  5. Nuclear Families and Nuclear Risks: The Effects of Gender, Geography, and Progeny on Attitudes toward a Nuclear Waste Facility

    Science.gov (United States)

    Freudenburg, William R.; Davidson, Debra J.

    2007-01-01

    Studies of reactions to nuclear facilities have found consistent male/female differences, but the underlying reasons have never been well-clarified. The most common expectations involve traditional roles--with men focusing more on economic concerns and with women (especially mothers) being more concerned about family safety/health. Still, with…

  6. A novel mutation in the porphobilinogen deaminase gene in an extended Chinese family with acute intermittent porphyria.

    Science.gov (United States)

    Yang, Jing; Wang, Honglian; Yin, Kunlun; Hua, Baolai; Zhu, Tienan; Zhao, Yongqiang; Guo, Shubin; Yu, Xuezhong; Wu, Wei; Zhou, Zhou

    2015-07-10

    Acute intermittent porphyria (AIP) is an autosomal dominant disorder caused by a partial deficiency of porphobilinogen deaminase (PBGD), the third enzyme of the heme biosynthetic pathway. Establishing accurate diagnoses of the patient and asymptomatic family members with AIP involves identifying the PBGD enzyme mutations directly. Genetic testing provides a precise diagnosis for the patient and other asymptomatic family members, and thereby proper treatments can be initiated to prevent the disease from progressing. In this study, we report a novel PBGD missense mutation, A G-to-C, at the position 988 resulting in Alanine to Proline (Ala330Pro), in a Chinese family. PMID:25870942

  7. 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.

  8. Updated Chinese Evaluated Nuclear Parameter Library (CENPL-2)

    Institute of Scientific and Technical Information of China (English)

    2001-01-01

    An important trend in the evaluation of neutron and charged particle nuclear data, and analyses of experimental results at low energies is the increased use of nuclear reaction theory codes to compute the cross sections, spectra, and angular distributions required by a large variety of applications. As a method of evaluation, such model codes offer, in comparison with simple approaches, many advantages such as the preservation of the energy balance or the coherence of partial cross sections with the total or the reaction cross section. Secondly, theoretical calculations can generate the data for any incident energy, any outgoing angles and energies, but the experimental measurement could never supply all of

  9. 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.

  10. Safety of Nuclear Fuel Cycle Facilities. Safety Requirements (Chinese Edition)

    International Nuclear Information System (INIS)

    This publication covers the broad scope of requirements for fuel cycle facilities that, in light of the experience and present state of technology, must be satisfied to ensure safety for the lifetime of the facility. Topics of specific relevance include aspects of nuclear fuel generation, storage, reprocessing and disposal

  11. Fallout in East Tennessee following Chinese nuclear tests of 1976 to 1978

    International Nuclear Information System (INIS)

    The fallout levels in East Tennessee following the Chinese nuclear tests of 1976 to 1978 are given. The environmental surveillance activities at Oak Ridge National Laboratory are outlined, as well as their integration into the nationwide monitoring network. A method for rapid determination of 131I in milk is described; these levels in milk are highlighted, along with airfilter and rainwater data. Maximum radiological dose commitments, as a result of the recent tests, are presented

  12. 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…

  13. Research and development of the Chinese decision support system for nuclear emergency management

    International Nuclear Information System (INIS)

    In 1995, the Chinese competent authority decided to develop a Chinese decision support system for nuclear emergency management. For this purpose, the European Real-time and On-line Decision Support System (RODOS) was introduced as a general platform in 1997. Several Chinese research institutes in Beijing are now involved in this project. A 3-step strategy has been adopted for the development of the Chinese decision support system. The first priority assigned to the first step has been given to the understanding of the RODOS operating modes and the assurance of the successful running of the system. The activities envisaged thereafter focus on the practical application of the system to the existing nuclear power plant sites in China. Finally, the system will be further adapted and developed so that it can meet the specific needs of decision-markers in support of nuclear emergency in China. Taken into consideration the specific capabilities of institutes involved in this project and the modular construction of the RODOS system, the whole R and D activities are grouped into two categories. The first category of activities concerns the comprehensive management of the system and the integration into the system of the external programs, including the assessment models and related databases from the second category of activities. The tasks assigned to this category also include the definition of I/O interfaces between various analytical subsystems and the operating subsystem as well as technical training. The second category of activities covers all the tasks relating to assessment model development and related databases. In terms of the model development, we have decided to use the well-developed models already integrated in the RODOS system where appropriate. Since the introduction of RODOS in 1997, we have gained first experience in the modification, compiling and integration of external programs into RODOS. This is an important technical breakthrough towards the

  14. Chinese evaluated nuclear parameter library and reference input parameter library of IAEA

    International Nuclear Information System (INIS)

    The Chinese Evaluated Nuclear Parameter Library (CENPL) for the model calculations of nuclear reactions was developed in the past ten years. The International Atomic Energy Agency has constructed a Reference Input Parameter Library (RIPL) for the calculations of nuclear reaction data in the meantime. All data files of CENPL are adopted as the RIPL Starter Files. The model parameters estimated and recommended by authors' group are specially selected as recommended files. The updated CENPL is being developed at present. The data of CENPL are tested, updated and expanded. The authors follow with especial interest the studies on model parameters, which can suit the nuclear data calculations of higher energy range and unstable nuclide range. The retrieval code and net software of CENPL are developed, the Web services will be carried out

  15. Keratin 13 mutations associated with oral white sponge nevus in two Chinese families

    Directory of Open Access Journals (Sweden)

    Wenping Cai

    2014-12-01

    Full Text Available White sponge nevus (WSN is an autosomal dominant hereditary disease. Keratin 4 (KRT4 and Keratin 13 (KRT13 gene mutations were involved in the WSN. We recruited two WSN Chinese families, and oral lesion biopsy with hematoxylin and eosin staining showed that patients had significant pathological characteristics. The mutations of KRT4 and KRT13 gene were detected by PCR and direct sequencing. The multiple alignments of KRT13 from 23 diverse species homology analyses were performed by the ClustalW program. The KRT13 expression was measured by Real-Time RT-PCR and Western blot analysis. Sequencing analysis revealed two mutations of KRT13 gene: one mutation was 332T>C and amino acid change was Leu111Pro. Another mutation was 340C>T and amino acid change was Arg114Cys. The sequence of KRT13 was highly conserved. Real-Time RT-PCR and Western blot analysis results show that KRT13 expression level is lower in patient but keep almost no change in mRNA level. When cells were treated with MG132, KRT13 protein level was increased and kept almost the same in normal and patient cells. We identified two heritable mutations in the KRT13 gene, which were associated with the development of WSN. The abnormal degradation of KRT13 protein of WSN may probably associate with the abnormal ubiquitination process.

  16. 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.

  17. 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.

  18. Differences in lifestyle behaviors, dietary habits, and familial factors among normal-weight, overweight, and obese Chinese children and adolescents

    OpenAIRE

    Guo Xiaofan; Zheng Liqiang; Li Yang; Yu Shasha; Sun Guozhe; Yang Hongmei; Zhou Xinghu; Zhang Xingang; Sun Zhaoqing; Sun Yingxian

    2012-01-01

    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. A...

  19. Re-examining the relationships among dementia, stigma, and aging in immigrant Chinese and Vietnamese family caregivers

    OpenAIRE

    Liu, Dandan; Hinton, Ladson; Tran, Cindy; Hinton, Devon; Barker, Judith C.

    2008-01-01

    Prior literature emphasizes that Asian Americans with dementia may be particularly vulnerable to the stigma of chronic mental illness. However, there is a dearth of empirical research to support this claim. This study examines the relationship of stigma and dementia in 32 qualitative interviews with Chinese and Vietnamese family caregivers. Stigma was a common theme in the interviews (91%). Further analysis of stigma revealed two sources: chronic mental illness stigma and stigma reflecting ne...

  20. 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…

  1. The Myth of the Nuclear Family: Historical Background and Clinical Implications.

    Science.gov (United States)

    Uzoka, Azubike Felix

    1979-01-01

    Research reviewed indicates that the concept of the nuclear family is inadequate and misleading for an understanding of family dynamics or a guide for therapeutic intervention. Nonetheless, clinical practitioners and psychological theorists foster the nuclear myth. A new approach to the study of human relationships is needed. (Author/GC)

  2. 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

  3. Complete mtDNA genomes reveal similar penetrances of maternally inherited type 2 diabetes in two Chinese families.

    Science.gov (United States)

    Yang, Ying; Zhou, Taicheng; Peng, Minsheng; Liu, Yongying; Li, Yiping; Wang, Huawei; Irwin, David M; Zhang, Yaping

    2016-05-01

    Previous work suggests that mitochondrial DNA (mtDNA) derived from the maternal genome has a close affinity with type 2 diabetes. This would support a familial pattern for type 2 diabetes. Thereby, we analyzed complete mtDNA genomes from two families, A and B, from Southwest China that demonstrated maternally inherited type 2 diabetes. Our data support that mtDNA lineages from families A and B belong to haplogroups A4 and D4h1, respectively. This suggests that maternally inherited type 2 diabetes with similar penetrances can arise in Chinese individuals with strikingly different maternal genetic backgrounds. Two private coding region mutations (G13759A in MT-ND5 and G15930A in tRNA-Thr) were identified in family B. Further evolutionary and phylogenetic analyses suggest that both these mutations have multiple origins and are unlikely to be disease causing. PMID:25469813

  4. No reason to talk about it: Families confront the nuclear taboo

    Energy Technology Data Exchange (ETDEWEB)

    Greenwald, D.S.; Zeitlin, S.

    1987-01-01

    Based on interviews with families from various ethnic and economic backgrounds, the authors look at the effect of the nuclear threat on family life, exploring such issues as how parents deal with their children's fears about the threat of nuclear war and the difficulty adolescents have committing themselves to the adult community in the nuclear age. Using Erik Erikson's stages of development as a framework, they move from early childhood to old age in their analysis of how families confront the nuclear issue.

  5. 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...

  6. Geology of the Chinese nuclear test site near Lop Nor, Xinjiang Uygur Autonomous Region, China

    Science.gov (United States)

    Matzko, J.R.

    1994-01-01

    The Chinese underground nuclear test site in the Kuruktag and Kyzyltag mountains of the Xinjiang Uygur Autonomous Region of northwest China, is the location of sixteen underground tests that occurred between 1969 and 1992. The largest test to date, conducted on 21 May 1992, had a reported yield of about one megaton. Geophysical properties of the rocks and a large-scale geologic map of part of the test area were published by the Chinese in 1986 and 1987 and are the first site-specific data available for this test site. In areas of low relief, underground nuclear testing has occurred below the water table, in shafts drilled vertically into dense, low porosity Paleozoic granitic and metasedimentary rocks. Additional testing in areas of more rugged terrain has occurred in horizontal tunnels, probably above the water table. At least one of these tunnels was driven into granite. The upper 50 m of the rock in the area of the vertical tests is weathered and fractured; these conditions have been shown to influence the magnitude of the disturbance of the land surface after a nuclear explosion. These descriptions suggest hard rock coupling at depth and a closer resemblance to the former Soviet test site in eastern Kazakhstan than to the U.S. test site in Nevada. ?? 1994.

  7. 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…

  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. Variation of nuclear and mitochondrial DNAs in Korean and Chinese isolates of Clonorchis sinensis

    OpenAIRE

    Lee, Soo-Ung; Huh, Sun

    2004-01-01

    We compared the DNA sequence difference of isolates of Clonorchis sinensis from one Korean (Kimhae) and two Chinese areas (Guangxi and Shenyang). The sequences of nuclear rDNA (18S, internal transcribed spacer 1 and 2: ITS1 and ITS2) and mitochondrial DNA (cytochrome c oxidase subunit 1: cox1) were compared. A very few intraspecific nucleotide substitution of the 18S, ITS1, ITS2 and cox1 was found among three isolates of C. sinensis and a few nucleotide insertion and deletion of ITS1 were det...

  11. 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.

  12. 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

  13. 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…

  14. Development of Educational and Training Simulator for Emergency Response to Chinese Nuclear Accidents

    Energy Technology Data Exchange (ETDEWEB)

    Kim, Juyub; Kim, Juyoul; Kim, Sukhoon; Lee, Seunghee; Yoon, Taebin [FNC Technology Co., Ltd., Yongin (Korea, Republic of); Cliff, Li-Chi [Micro-Simulation Technology, Montville (United States)

    2015-05-15

    One of the lessons in the emergency response category is that information on the nuclear power plants of neighboring countries should be organized and the consequence can be assessed. In addition, many reactors have been constructed and are under construction on the eastern coast of China recently. Korea might be directly affected by an accident of Chinese nuclear power plant since Korea is located in the westerly belt. performed with the PCTRAN/CPR-1000 module. The result showed that normal operation and DBA conditions were simulated swiftly with the speed of 16 times faster than real time. Thus, it would be a good source term estimation module for the educational and training simulator.

  15. Development of Educational and Training Simulator for Emergency Response to Chinese Nuclear Accidents

    International Nuclear Information System (INIS)

    One of the lessons in the emergency response category is that information on the nuclear power plants of neighboring countries should be organized and the consequence can be assessed. In addition, many reactors have been constructed and are under construction on the eastern coast of China recently. Korea might be directly affected by an accident of Chinese nuclear power plant since Korea is located in the westerly belt. performed with the PCTRAN/CPR-1000 module. The result showed that normal operation and DBA conditions were simulated swiftly with the speed of 16 times faster than real time. Thus, it would be a good source term estimation module for the educational and training simulator

  16. 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…

  17. Nuclear security recommendations on physical protection of nuclear material and nuclear facilities (INFCIRC/225/Revision 5). Recommendations (Chinese Edition)

    International Nuclear Information System (INIS)

    This publication, Revision 5 of Physical Protection of Nuclear Material and Nuclear Facilities (INFCIRC/225), is intended to provide guidance to States and their competent authorities on how to develop or enhance, implement and maintain a physical protection regime for nuclear material and nuclear facilities, through the establishment or improvement of their capabilities to implement legislative and regulatory programmes. The recommendations presented in this publication reflect a broad consensus among IAEA Member States on the requirements which should be met for the physical protection of nuclear materials and nuclear facilities.

  18. Plastid and nuclear DNA markers reveal intricate relationships at subfamilial and tribal levels in the soapberry family (Sapindaceae).

    Science.gov (United States)

    Buerki, Sven; Forest, Félix; Acevedo-Rodríguez, Pedro; Callmander, Martin W; Nylander, Johan A A; Harrington, Mark; Sanmartín, Isabel; Küpfer, Philippe; Alvarez, Nadir

    2009-05-01

    The economically important soapberry family (Sapindaceae) comprises about 1900 species mainly found in the tropical regions of the world, with only a few genera being restricted to temperate areas. The infrafamilial classification of the Sapindaceae and its relationships to the closely related Aceraceae and Hippocastanaceae - which have now been included in an expanded definition of Sapindaceae (i.e., subfamily Hippocastanoideae) - have been debated for decades. Here we present a phylogenetic analysis of Sapindaceae based on eight DNA sequence regions from the plastid and nuclear genomes and including 85 of the 141 genera defined within the family. Our study comprises 997 new sequences of Sapindaceae from 152 specimens. Despite presenting 18.6% of missing data our complete data set produced a topology fully congruent with the one obtained from a subset without missing data, but including fewer markers. The use of additional information therefore led to a consistent result in the relative position of clades and allowed the definition of a new phylogenetic hypothesis. Our results confirm a high level of paraphyly and polyphyly at the subfamilial and tribal levels and even contest the monophyletic status of several genera. Our study confirms that the Chinese monotypic genus Xanthoceras is sister to the rest of the family, in which subfamily Hippocastanoideae is sister to a clade comprising subfamilies Dodonaeoideae and Sapindoideae. On the basis of the strong support demonstrated in Sapindoideae, Dodonaeoideae and Hippocastanoideae as well as in 14 subclades, we propose and discuss informal groupings as basis for a new classification of Sapindaceae. PMID:19405193

  19. 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

  20. Childhood Problems in a Sudanese City: A Comparison of Extended and Nuclear Families.

    Science.gov (United States)

    Al Awad, Ahmed M. El Hassan; Sonuga-Barke, Edmund J. S.

    1992-01-01

    Compared mothers' ratings of childhood problems of 4- to 9-year-old Sudanese children. Compared to children in extended families, children in nuclear families had more conduct, emotional, and sleep problems; exhibited poorer self-care and greater overdependence; and were less likely to be breastfed and have grandmothers involved in their care. (BC)

  1. Clinical and molecular analysis of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss associated with the mitochondrial 12S rRNA C1494T mutation

    International Nuclear Information System (INIS)

    We report here the clinical, genetic, and molecular characterization of a four-generation Chinese family with aminoglycoside-induced and nonsyndromic hearing loss. Five of nine matrilineal relatives had aminoglycoside-induced hearing loss. These matrilineal relatives exhibited variable severity and audiometric configuration of hearing impairment, despite sharing some common features: being bilateral and having sensorineural hearing impairment. Sequence analysis of mitochondrial DNA (mtDNA) in the pedigree identified 16 variants and the homoplasmic 12S rRNA C1494T mutation, which was associated with hearing loss in the other large Chinese family. In fact, the occurrence of the C1494T mutation in these genetically unrelated pedigrees affected by hearing impairment strongly indicated that this mutation is involved in the pathogenesis of aminoglycoside-induced and nonsyndromic hearing loss. However, incomplete penetrance of hearing loss indicated that the C1494T mutation itself is not sufficient to produce a clinical phenotype but requires the involvement of modifier factors for the phenotypic expression. Those mtDNA variants, showing no evolutional conservation, may not have a potential modifying role in the pathogenesis of the C1494T mutation. However, nuclear background seems to contribute to the phenotypic variability of matrilineal relatives in this family. Furthermore, aminoglycosides modulate the expressivity and penetrance of deafness associated with the C1494T mutation in this family

  2. 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.

  3. 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.

  4. Impacts on Chinese Agriculture of Geoengineering and Smoke from Fires Ignited by Nuclear War

    Science.gov (United States)

    Xia, L.; Robock, A.

    2013-12-01

    Climate is one of the most important factors determining crop yields and world food supplies. To be well prepared for possible futures, it is necessary to study yield changes of major crops under different climate scenarios. Here we consider two situations: stratospheric sulfate geoengineering and nuclear war. Although we certainly do not advocate either scenario, we cannot exclude the possibilities: if global warming is getting worse, society might consider deliberately manipulating global temperature; if nuclear weapons still exist, we might face a nuclear war catastrophe. Since in both scenarios there would be reductions of temperature, precipitation, and insolation, which are three controlling factors on crop growth, it is important to study food supply changes under the two cases. We conducted our simulations for China, because it has the highest population and crop production in the world and it is under the strong influence of the summer monsoon, which would be altered in geoengineering and nuclear war scenarios. To examine the effects of climate changes induced by geoengineering and nuclear war on Chinese agriculture, we use the Decision Support System for Agrotechnology Transfer (DSSAT) crop model. We first evaluated the model by forcing it with daily weather data and management practices for the period 1978-2008 for 24 provinces in China, and compared the results to observations of the yields of major crops in China (middle season rice, winter wheat, and maize). Then we perturbed observed weather data using climate anomalies for geoengineering and nuclear war simulations. For geoengineering, we consider the G2 scenario of the Geoengineering Model Intercomparison Project (GeoMIP), which prescribes an insolation reduction to balance a 1% per year increase in CO2 concentration (1pctCO2). We used results from ten climate models participating in G2. For the nuclear war scenario, we consider the effects of 5 Tg of soot that could be injected into the upper

  5. Pathway-PDT: a flexible pathway analysis tool for nuclear families

    OpenAIRE

    Park, Yo Son; Schmidt, Michael; Martin, Eden R.; Pericak-Vance, Margaret A.; Chung, Ren-Hua

    2013-01-01

    Background Pathway analysis based on Genome-Wide Association Studies (GWAS) data has become popular as a secondary analysis strategy. Although many pathway analysis tools have been developed for case–control studies, there is no tool that can use all information from raw genotypes in general nuclear families. We developed Pathway-PDT, which uses the framework of Pedigree Disequilibrium Test (PDT) for general family data, to perform pathway analysis based on raw genotypes in family-based GWAS....

  6. 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.

  7. 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

  8. 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.

  9. 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

  10. 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...

  11. Human prion disease with a G114V mutation and epidemiological studies in a Chinese family: a case series

    Directory of Open Access Journals (Sweden)

    Ye Jing

    2008-10-01

    Full Text Available Abstract Introduction Transmissible spongiform encephalopathies are a group of neurodegenerative diseases of humans and animals. Genetic Creutzfeldt-Jakob diseases, in which mutations in the PRNP gene predispose to disease by causing the expression of abnormal PrP protein, include familial Creutzfeldt-Jakob disease, Gerstmann-Straussler-Scheinker syndrome and fatal familial insomnia. Case presentation A 47-year-old Han-Chinese woman was hospitalized with a 2-year history of progressive dementia, tiredness, lethargy and mild difficulty in falling asleep. On neurological examination, there was severe apathy, spontaneous myoclonus of the lower limbs, generalized hyperreflexia and bilateral Babinski signs. A missense mutation (T to G was identified at the position of nt 341 in one PRNP allele, leading to a change from glycine (Gly to valine (Val at codon 114. PK-resistant PrPSc was detected in brain tissues by Western blotting and immunohistochemical assays. Information on pedigree was collected notably by interviews with family members. A further four suspected patients in five consecutive generations of the family have been identified. One of them was hospitalized for progressive memory impairment at the age of 32. On examination, he had impairment of memory, calculation and comprehension, mild ataxia of the limbs, tremor and a left Babinski sign. He is still alive. Conclusion This family with G114V inherited prion disease is the first to be described in China and represents the second family worldwide in which this mutation has been identified. Three other suspected cases have been retrospectively identified in this family, and a further case with suggestive clinical manifestations has been shown by gene sequencing to have the causal mutation.

  12. Comparison of Relative Radionuclide Ratios in Debris from the Third and the Fifth Chinese Nuclear Test Explosions

    DEFF Research Database (Denmark)

    Aarkrog, Asker; Lippert, Jørgen Emil

    1967-01-01

    Of the five first Chinese nuclear test explosions, No. 3 and No. 5 detonated on May 9, 1966, and December 28, 1966, respectively, have been the most powerful. According to the U.S. Atomic Energy Commission1 both explosions were in the lower end of the intermediate range, that is, they corresponded...

  13. 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.

  14. A New Family of Nuclear Receptor Coregulators That Integrate Nuclear Receptor Signaling through CREB-Binding Protein

    OpenAIRE

    Mahajan, Muktar A.; Samuels, Herbert H.

    2000-01-01

    We describe the cloning and characterization of a new family of nuclear receptor coregulators (NRCs) which modulate the function of nuclear hormone receptors in a ligand-dependent manner. NRCs are expressed as alternatively spliced isoforms which may exhibit different intrinsic activities and receptor specificities. The NRCs are organized into several modular structures and contain a single functional LXXLL motif which associates with members of the steroid hormone and thyroid hormone/retinoi...

  15. 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,…

  16. Co-Occurrence of Intimate Partner Violence and Child Abuse in Hong Kong Chinese Families

    Science.gov (United States)

    Chan, Ko Ling

    2011-01-01

    This study examines the prevalence of co-occurrence of intimate partner violence (IPV) and child abuse and neglect (CAN) in a cohort of Chinese parents drawn from a large representative sample in Hong Kong. It also investigates the risk factors for CAN with a special emphasis on the role of IPV. A subsample of 2,363 parents was invited to complete…

  17. 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…

  18. Intergenerational Experiences of Discrimination in Chinese American Families: Influences of Socialization and Stress

    Science.gov (United States)

    Benner, Aprile D.; Kim, Su Yeong

    2009-01-01

    In this longitudinal study, we investigated the mechanisms by which Chinese American parents' experiences of discrimination influenced their adolescents' ethnicity-related stressors (i.e., cultural misfit, discrimination, attitudes toward education). We focused on whether parents' ethnic-racial socialization practices and perpetual foreigner…

  19. 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,…

  20. Review of practicing Level-2 probabilistic safety analysis for Chinese nuclear power plants

    International Nuclear Information System (INIS)

    Existing studies about Level-2 PSA (Probabilistic Safety Analysis) in the world, covering NUREG-1150, IAEA-SSG-4, 50-P-8 and Level-2 plant PSA reports for AP1000 and EPR, serve in this paper as the basis of a literature study aimed at determining guidelines to practice Level-2 PSA in Chinese commercial nuclear power plants. We recapitulate the main technical elements composing Level-2 PSA: the familiarization with plant data and systems, interface with Level-1, containment performance analysis, accident progression and containment event tree analysis, source term and release category analysis, sensitivity, importance and uncertainty analysis, and the relationship between them. At last, outcomes of Level-2 PSA are presented. (author)

  1. Botanical compounds and their regulation of nuclear receptor action: the case of traditional Chinese medicine.

    Science.gov (United States)

    Li, Ling; Bonneton, François; Chen, Xiao Yong; Laudet, Vincent

    2015-02-01

    Nuclear receptors (NRs) are major pharmacological targets that allow an access to the mechanisms controlling gene regulation. As such, some NRs were identified as biological targets of active compounds contained in herbal remedies found in traditional medicines. We aim here to review this expanding literature by focusing on the informative articles regarding the mechanisms of action of traditional Chinese medicines (TCMs). We exemplified well-characterized TCM action mediated by NR such as steroid receptors (ER, GR, AR), metabolic receptors (PPAR, LXR, FXR, PXR, CAR) and RXR. We also provided, when possible, examples from other traditional medicines. From these, we draw a parallel between TCMs and phytoestrogens or endocrine disrupting chemicals also acting via NR. We define common principle of action and highlight the potential and limits of those compounds. TCMs, by finely tuning physiological reactions in positive and negative manners, could act, in a subtle but efficient way, on NR sensors and their transcriptional network. PMID:25449417

  2. Perceived Organizational Support Impacts on the Associations of Work-Family Conflict or Family-Work Conflict with Depressive Symptoms among Chinese Doctors

    Directory of Open Access Journals (Sweden)

    Junhui Hao

    2016-03-01

    Full Text Available 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

  3. 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

    2016-03-01

    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. PMID:26999175

  4. Family Sports in Nuclear Families at the Empty-nest Stage of Incumbency%核心家庭空巢阶段在职期家庭体育研究

    Institute of Scientific and Technical Information of China (English)

    李伟男

    2011-01-01

    核心家庭作为中国目前家庭的主要类型,其生命周期分为六个阶段.在界定核心家庭空巢阶段在职期、明确家庭体育内涵的基础上,对六个阶段的家庭体育的开展情况进行了分析,重点分析了空巢阶段在职期的家庭体育价值,进而提出了核心家庭空巢阶段在职期家庭体育的开展对策.%Nuclear family is a major type of the current Chinese families, whose life cycle can be subdivided into six stages. (in the basis of defining the connotation of family sports at the empty-nest stage of a nuclear family, analysis is made about the implemen

  5. 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

  6. 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

  7. Obstacles of Organizational Learning and Self-transcendence: Theoretical Research Based on Chinese Family Business

    Directory of Open Access Journals (Sweden)

    Mengyun Wu

    2012-10-01

    Full Text Available Family enterprises widely exist in countries of the world. No matter in quantity or in scale, family enterprise takes a great share of world economy and occupies a very important position in national economy. Nowadays, research on family enterprise turns to be the focus of theoretic research in all countries, and organizational learning is also thought to be the key issue of family enterprises to survive, develop and maintain competitive advantages. However, the obstacles in learning are difficult questions and may weaken family enterprises’ core competence. Thus, the article starts with the basic meaning of obstacles in organizational learning, analyzes their influence factors from several aspects (learning process, organization’s ideas and culture, and puts forward the countermeasures for enhancing organizational learning ability of family enterprises.

  8. 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.

  9. Emotional and behavioural problems in primary school children from nuclear and extended families in Korea.

    Science.gov (United States)

    Hwang, H J; St James-Roberts, I

    1998-10-01

    The changes occurring within Korean society provide an opportunity for studying the influence of family structure on children's emotional and behavioural problems. Children aged 7-13 years from two Korean cities were assessed for emotional and behavioural problems in school by their teachers, using the Children's Behaviour Questionnaire. In Study 1, 326 children from extended families were compared with demographically matched nuclear family children in the same school classes. In Study 2, a further sample of 204 extended family children was compared with pair-matched nuclear family children, in order to replicate the findings. Children from Study 1 were followed up 2.5 years later. Children from extended families had lower behaviour problems scores and the prevalence of serious problems was lower in extended family children. These differences were most marked in relation to externalising behaviour problems and were stable over the studies and time. Grandparents in extended families may increase children's resiliency by providing sources of attachment, affection, and knowledge, as well as having indirect effects through their support of parents. Consistent with recent ideas about the cognitive bases for behaviour problems, it may be that rules for behaviour derived from traditional cultural beliefs and values are internalised by children from extended families and generalise to prevent behaviour problems in school. PMID:9804030

  10. 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...

  11. Self-Perceived Creativity, Family Hardiness, And Emotional Intelligence Of Chinese Gifted Students In Hong Kong

    Science.gov (United States)

    Chan, David W.

    2005-01-01

    This study assessed the self-perceptions of 212 gifted students regarding their creativity, family hardiness, and emotional intelligence. There were in general no gender and age group differences on these self-perceptions, with the exception that younger students perceived their families as more hardy than did older students. The results of…

  12. Supporting Families and Developing Parent Advocates and Leaders among the Immigrant Chinese Community in Boston

    Science.gov (United States)

    Ng, Elaine

    2013-01-01

    Nationally, many resources are spent on programs to ameliorate poor educational and economic outcomes for our children and families, in particular for urban and immigrant families. Programs like the federally funded Head Start, Community Development Block Grants, and thousands of nonprofits across the nation provide out-of-school-time academic and…

  13. 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.

  14. 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, California Earthquake Authority, Governor's Office of Emergency Services, New America Media, U.S. Department of Homeland Security Federal Emergency Management Agency, and U.S. Geological Survey

    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

  15. 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

  16. 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.

  17. 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...

  18. 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

  19. 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.

  20. 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.

  1. Chinese American immigrant parents' emotional expression in the family: Relations with parents' cultural orientations and children's emotion-related regulation.

    Science.gov (United States)

    Chen, Stephen H; Zhou, Qing; Main, Alexandra; Lee, Erica H

    2015-10-01

    The present study examined 2 measures of Chinese American immigrant parents' emotional expression in the family context: self-reported emotional expressivity and observed emotional expression during a parent-child interaction task. Path analyses were conducted to examine the concurrent associations between measures of emotional expression and (a) parents' American and Chinese cultural orientations in language proficiency, media use, and social affiliation domains, and (b) parents' and teachers' ratings of children's emotion-related regulation. Results suggested that cultural orientations were primarily associated with parents' self-reported expressivity (rather than observed emotional expression), such that higher American orientations were generally associated with higher expressivity. Although parents' self-reported expressivity was only related to their own reports of children's regulation, parents' observed emotional expression was related to both parents' and teachers' reports of children's regulation. These results suggest that self-reported expressivity and observed emotional expression reflect different constructs and have differential relations to parents' cultural orientations and children's regulation. PMID:25133412

  2. 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.

  3. 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

  4. A single nucleotide deletion of 293delT in SEDL gene causing spondyloepiphyseal dysplasia tarda in a four-generation Chinese family

    DEFF Research Database (Denmark)

    Xiao, Cuiying; Zhang, Sizhong; Wang, Jun; Qiu, Weimin; Chi, Leiting; Li, Yunqing; Su, Zhiguang

    distinctive radiological signs and the X-linked mode of inheritance make it easy to diagnose. Here a four-generation Chinese SEDT family has been analyzed and the disease-causing mutation has been found. After polymerase chain reaction (PCR)-single strand conformation polymorphism (SSCP) analysis and DNA...

  5. 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…

  6. Chinese energy in 21st century and the way for developing nuclear energy

    International Nuclear Information System (INIS)

    A computer model, which was based on the scenarios about Chinese population and economy development, for China's long-term energy prediction in 21st century is introduced. According to the results, the total commercial energy consumption by the year of 2020 will be 5.86 to 6.36 times greater than in the year of 1987. The fossil fuel still will be main energy resources in the early stage of the next century. Because using fossil fuel has many disadvantages such as polluting environment, greenhouse effect, large volume for transportation and waste of important raw materials for chemistry industries, it could sharply decline after 2020s, as it annual consumption reaches to 2.5 to 2.66 billion tonnes of coal equivalent. The renewable energy will be increasing, but its share would decrease from 27% in the early stage to 18% in the middle of the next century. After the year of 2040, in order to meet energy demands the nuclear energy could become main energy and its share will excess 50%. China has two PWR plants under construction. Since only a small part of uranium is utilized in PWR and the uranium resource is limited, the best way for developing nuclear energy in China is to build Fast Breeder Reactors (FBR). A computer model for various developing nuclear energy patterns is calculated. The results based on these patterns show that China will meet its energy demands if an experimental FBR is built before the end of this century and the metallic fuelled FBRs are gradually developed after the year of 2010

  7. Parent–Adolescent Discrepancies in Perceived Parenting Characteristics and Adolescent Developmental Outcomes in Poor Chinese Families

    OpenAIRE

    Leung, Janet T. Y.; Shek, Daniel T. L.

    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...

  8. 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.

  9. 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.

  10. 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

  11. Sibling and In-Law Relationships in Hong Kong: The Emergent Role of Chinese Wives

    Science.gov (United States)

    Rosen, Sherry

    1978-01-01

    Using data from study of young families in an affluent Hong Kong housing complex, author contends that role reorganization within nuclear family and, specifically, changing role of Chinese wives, has created a new family structure which reinforces rather than rejects traditional norms of shared residence and reciprocal aid among kin. (Author)

  12. [The Chinese nuclear test and 'atoms for peace' as a measure for preventing nuclear armament of Japan: the nuclear non-proliferation policy of the United States and the introduction of light water reactors into Japan, 1964-1968].

    Science.gov (United States)

    Yamazaki, Masakatsu

    2014-07-01

    Japan and the United States signed in 1968 a new atomic energy agreement through which US light-water nuclear reactors, including those of the Fukushima Daiichi Nuclear Power Plant of Tokyo Electric Power Company, were to be introduced into Japan. This paper studies the history of negotiations for the 1968 agreement using documents declassified in the 1990s in the US and Japan. After the success of the Chinese nuclear test in October 1964, the United States became seriously concerned about nuclear armament of other countries in Asia including Japan. Expecting that Japan would not have its own nuclear weapons, the US offered to help the country to demonstrate its superiority in some fields of science including peaceful nuclear energy to counter the psychological effect of the Chinese nuclear armament. Driven by his own political agenda, the newly appointed Prime Minister Eisaku Sato responded to the US expectation favorably. When he met in January 1965 with President Johnson, Sato made it clear that Japan would not pursue nuclear weapons. Although the US continued its support after this visit, it nevertheless gave priority to the control of nuclear technology in Japan through the bilateral peaceful nuclear agreement. This paper argues that the 1968 agreement implicitly meant a strategic measure to prevent Japan from going nuclear and also a tactic to persuade Japan to join the Nuclear Non -Proliferation Treaty. PMID:25296517

  13. Cosmic ray nuclear interactions and EAS-triggered families observed by the Chacaltaya hybrid experiment

    International Nuclear Information System (INIS)

    Longitudinal and lateral characteristics of the families detected by emulsion chambers in the hybrid experiment with AS-array at Mt. Chacaltaya are studied in detail. Although many groups discuss about an increase of the heavy component in primary cosmic-rays beyond the knee region, it is shown that the observed characteristics of the families accompanied by large shower size, Ne>106, can not be explained by an increase of heavy primaries alone. It is necessary to assume some changes of nuclear interaction in order to explain the observed characteristics of the air-showers accompanied by families

  14. Motivational readiness of children to school in nuclear and single parent families

    Directory of Open Access Journals (Sweden)

    Kateryna Ostrovska

    2015-12-01

    Full Text Available The aim of the paper is a comparison of psychological readiness of the child to go to school in nuclear and single parent families. To obtain the objectives of the paper the following methods were used: 1 methods “Two schools” by L.A Venger to identify the level of formation of internal position of the student; 2 the method “Motivational research studies in older preschoolers” by M.R. Ginsburg; 3 method “Pattern” by L.I. Tsehanskaya to determine the degree of development of skills training activities; 4 method “Graphic dictation” by D. El’konin to study the ability to follow adult instructions. The investigated group consisted of 40 students from first grade secondary school - 20 students from nuclear families (12 girls and 8 boys and 20 students from single parent families (9 girls and 11 boys. As a result of qualitative, comparative and correlation analysis it was shown that readiness of children to go to school susbstantially depends on completness of their families. The children from families have a higher level of skill training and internal position than children from single parent families. This occurs because both parents pay more attention to the children in the forming of a willingness to learn in school. The studies have shown that in the group of children from nuclear families dominate the highest level of development of skills training activities, increased formation of internal positions and childrens social motivation. These indicators are the hallmarks of readiness to learn at school. Also, some recommendations to teachers are provided as for increase of motivation to learn in children from single parent families.

  15. 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

  16. 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…

  17. 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…

  18. 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.

  19. The coexistence of mitochondrial ND6 T14484C and 12S rRNA A1555G mutations in a Chinese family with Leber's hereditary optic neuropathy and hearing loss

    International Nuclear Information System (INIS)

    We report here the clinical, genetic and molecular characterization of one three-generation Han Chinese family with Leber's hereditary optic neuropathy (LHON) and hearing loss. Four of 14 matrilineal relatives exhibited the moderate central vision loss at the average age of 12.5 years. Of these, one subject exhibited both LHON and mild hearing impairment. Sequence analysis of the complete mitochondrial genomes in the pedigree showed the presence of homoplasmic LHON-associated ND6 T14484C mutation, deafness-associated 12S rRNA A1555 mutation and 47 other variants belonging to Eastern Asian haplogroup H2. None of other mitochondrial variants was evolutionarily conserved and functional significance. Therefore, the coexistence of the A1555G mutation and T14484C mutations in this Chinese family indicate that the A1555G mutation may play a synergistic role in the phenotypic manifestation of LHON associated ND6 T14484C mutation. However, the incomplete penetrance of vision and hearing loss suggests the involvement of nuclear modifier genes and environmental factors in the phenotypic expression of these mtDNA mutations

  20. The main problems in the operational implementation of radiation protection standards for occupational exposure in the Chinese nuclear industry

    International Nuclear Information System (INIS)

    The Chinese nuclear industry is about 40 years old. There are 11 power reactors in operation or under construction, 17 civilian research reactors in operation, 6 civilian nuclear fuel cycle facilities, 2 low level waste disposal sites and 25 temporary radioactive waste storage facilities located in urban areas. There are about 50 000 radiation sources used in industry, agriculture, and medical and science research. The regulatory body, the National Nuclear Safety Administration, was established in 1984 and a series of regulations, guides and standards on nuclear safety and radiation protection have been published since then. During this period, occupational exposure control underwent significant development, with progress made in radiation protection techniques and both regulations and management strengthened

  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. Mitochondrial trifunctional protein deficiency due to HADHB gene mutation in a Chinese family

    Directory of Open Access Journals (Sweden)

    Xiaona Fu

    2015-12-01

    Full Text Available We report an 8-year-old girl with lower limb weakness since birth in whom mitochondrial trifunctional protein (MTP deficiency, an autosomal recessive fatty acid oxidation disorder caused by HADHA or HADHB mutations, had not been definitively diagnosed before she was referred to our hospital. Repeated blood acylcarnitine analysis revealed slightly increased long-chain 3-OH-acylcarnitine levels; electromyography (EMG suggested peripheral nerve injury; muscle biopsy confirmed a neurogenic lesion in muscle fibers, as shown by EMG. Analysis of the HADHB, which encodes long-chain 3-ketoacyl-CoA thiolase, one of the enzymes constituting mitochondrial trifunctional protein, identified homozygous missense mutation c.739C > T (p.R247C. Mitochondrial trifunctional protein deficiency is an extremely rare disorder and has not been reported in Chinese people to date. It is likely that neonatal onset, as seen in our patient, has not been reported for the neuromyopathic phenotype of mitochondrial trifunctional protein deficiency.

  3. Virtual Home Library System—— Let every Chinese family having their own libraries

    OpenAIRE

    Cao, Jianxiang; Song, Shu; Wu, Bin; Wen RU

    2009-01-01

    Virtual Home Library (VHL) is an integrated IT system that utilizes virtual reality technology and an IPTV set-top box (STB) to virtually construct a ‘library’ and the relevant reading environment on televisions in people’s home. Unlike the online e-book reading applications, Virtual Home Library can be applied on televisions – the world’s most convenient and most efficient communication tool. Providing extended digital library services, it will be a perfect group reading utility for family r...

  4. 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...

  5. 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

  6. Primary infertility in nuclear industry employees: report from the nuclear industry family study

    OpenAIRE

    Doyle, P; Roman, E.; Maconochie, N.; Davies, G.; SMITH, P.; Beral, V

    2001-01-01

    OBJECTIVE—To determine whether men and women who are occupationally exposed to ionising radiation are at increased risk of primary infertility.
METHODS—A cross sectional analysis of reproductive outcome was reported in an occupational cohort of nuclear industry workers from the Atomic Energy Authority, Atomic Weapons Establishment, and British Nuclear Fuels in the United Kingdom. Data on employment and radiation monitoring supplied by employers were linked to data obtained from self administe...

  7. The fidelity of mutans streptococci transmission and caries status correlate with breast-feeding experience among Chinese families.

    Science.gov (United States)

    Li, Y; Wang, W; Caufield, P W

    2000-01-01

    Our previous study reported that the fidelity of mutans streptococci (MS) transmission from mother to infant was gender- and race-specific within a Birmingham, Ala., population. We hypothesized that fidelity might be a function of postnatal nurturing practices. The purpose of the present study was to investigate those factors that could be correlated with MS transmission among Chinese children whose nurturing histories were known. Forty-eight families with 2- to 3-year-old children were selected from two kindergartens of Beijing, China. A questionnaire concerning the childhood nursing practice was obtained from the parents. Dental caries status was examined, and bacterial samples were collected for all participants twice at 6-month intervals. An average of six isolates of MS was picked at random from selective medium from each individual at each visit. Chromosomal DNA fingerprints were performed for all MS isolates to determine the genomic similarity within each family and among individuals. The results showed that 66% of the children at 2-3 years of age harbored MS, and 46% were caries-active. Of those children, 70% were breast-fed. Among the children whose chromosomal DNA fingerprint genotypes of MS matched that of their mothers, 88% were breast-fed compared with only 12% who were not breast-fed (p = 0.03). We also found that children who were breast-fed for more than 9 months were likely to harbor strains of MS common to their mothers (p = 0.04) and experience more dental caries (dmft = 4.4) at 3 years of age compared with children who were breast-fed less than 9 months (dmft = 1.4, p = 0.04). The data suggest that breast-feeding, especially prolonged breast-feeding, may correlate with the fidelity of transmission and that prolonged breast-feeding may contribute to a higher caries rate. PMID:10773629

  8. 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

  9. 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

  10. Cancer as a complex phenotype: pattern of cancer distribution within and beyond the nuclear family.

    Directory of Open Access Journals (Sweden)

    Laufey T Amundadottir

    2004-12-01

    Full Text Available BACKGROUND: The contribution of low-penetrant susceptibility variants to cancer is not clear. With the aim of searching for genetic factors that contribute to cancer at one or more sites in the body, we have analyzed familial aggregation of cancer in extended families based on all cancer cases diagnosed in Iceland over almost half a century. METHODS AND FINDINGS: We have estimated risk ratios (RRs of cancer for first- and up to fifth-degree relatives both within and between all types of cancers diagnosed in Iceland from 1955 to 2002 by linking patient information from the Icelandic Cancer Registry to an extensive genealogical database, containing all living Icelanders and most of their ancestors since the settlement of Iceland. We evaluated the significance of the familial clustering for each relationship separately, all relationships combined (first- to fifth-degree relatives and for close (first- and second-degree and distant (third- to fifth-degree relatives. Most cancer sites demonstrate a significantly increased RR for the same cancer, beyond the nuclear family. Significantly increased familial clustering between different cancer sites is also documented in both close and distant relatives. Some of these associations have been suggested previously but others not. CONCLUSION: We conclude that genetic factors are involved in the etiology of many cancers and that these factors are in some cases shared by different cancer sites. However, a significantly increased RR conferred upon mates of patients with cancer at some sites indicates that shared environment or nonrandom mating for certain risk factors also play a role in the familial clustering of cancer. Our results indicate that cancer is a complex, often non-site-specific disease for which increased risk extends beyond the nuclear family.

  11. Cancer as a Complex Phenotype: Pattern of Cancer Distribution within and beyond the Nuclear Family

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    Amundadottir Laufey T

    2004-01-01

    Full Text Available Background The contribution of low-penetrant susceptibility variants to cancer is not clear. With the aim of searching for genetic factors that contribute to cancer at one or more sites in the body, we have analyzed familial aggregation of cancer in extended families based on all cancer cases diagnosed in Iceland over almost half a century. Methods and Findings We have estimated risk ratios (RRs of cancer for first- and up to fifth-degree relatives both within and between all types of cancers diagnosed in Iceland from 1955 to 2002 by linking patient information from the Icelandic Cancer Registry to an extensive genealogical database, containing all living Icelanders and most of their ancestors since the settlement of Iceland. We evaluated the significance of the familial clustering for each relationship separately, all relationships combined (first- to fifth-degree relatives and for close (first- and second-degree and distant (third- to fifth-degree relatives. Most cancer sites demonstrate a significantly increased RR for the same cancer, beyond the nuclear family. Significantly increased familial clustering between different cancer sites is also documented in both close and distant relatives. Some of these associations have been suggested previously but others not. Conclusion We conclude that genetic factors are involved in the etiology of many cancers and that these factors are in some cases shared by different cancer sites. However, a significantly increased RR conferred upon mates of patients with cancer at some sites indicates that shared environment or nonrandom mating for certain risk factors also play a role in the familial clustering of cancer. Our results indicate that cancer is a complex, often non-site-specific disease for which increased risk extends beyond the nuclear family.

  12. 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...

  13. Blood is not always thicker than water: The limited effect of kin selection on human kinship in the traditional Chinese family

    Directory of Open Access Journals (Sweden)

    Lixing Sun

    2010-04-01

    Full Text Available To examine the importance of kin selection in shaping human societies, this study analyzed the kinship system practiced in traditional China for two millennia and teased apart its underlying genetic and other, presumably cultural, components. The results demonstrate that, in the traditional patrilineal Chinese family, both genetic relatedness and the cultural factor of generation were important in determining kinship status for male agnates (genetically related relatives. For female agnates, however, only genetic relatedness was important. Another surprising finding was that the influence of gender was not as important as genetic relatedness. The most interesting finding in this study, however, was that kin selection and culture (i.e., seniority in generation and age played vastly different roles in different lineages in the Chinese family: for collateral (indirect agnates, genetic relatedness was the most important factor in determining their kinship status, but for lineal (direct agnates, its importance was overridden by seniority in generation and age, a cultural factor. Several other bio-cultural factors also explained a considerable amount of variance in kinship status. Since kinship profoundly affected, and was often the foundation of, the legal and social systems in dynastic China, kin selection, while its strength may differ remarkably between lineal and collateral relatives, could act as a selective force in Chinese families [Current Zoology 56 (2: 182–189, 2010].

  14. Chinese Public Willingness to Pay to Avoid Having Nuclear Power Plants in the Neighborhood

    OpenAIRE

    Chuanwang Sun; Nan Lyu; Xiaoling Ouyang

    2014-01-01

    In spite of the decreasing share of nuclear power all over the world, China resumed the approval of large-scale construction of nuclear power plants in 2012. However, influenced by the worldwide spreading anti-nuclear attitudes, people who live near nuclear power plants showed increasing concerns about nuclear risks. Consequently, the Not In My Backyard (NIMBY) syndrome of nuclear power plants should be evaluated prudently to support the healthy development of nuclear power in China. Based on...

  15. Cloning, expression and nuclear localization of human NPM3, a member of the nucleophosmin/nucleoplasmin family of nuclear chaperones

    Directory of Open Access Journals (Sweden)

    Ganguly Amit

    2001-11-01

    Full Text Available Abstract Background Studies suggest that the related proteins nucleoplasmin and nucleophosmin (also called B23, NO38 or numatrin are nuclear chaperones that mediate the assembly of nucleosomes and ribosomes, respectively, and that these activities are accomplished through the binding of basic proteins via their acidic domains. Recently discovered and less well characterized members of this family of acidic phosphoproteins include mouse nucleophosmin/nucleoplasmin 3 (Npm3 and Xenopus NO29. Here we report the cloning and initial characterization of the human ortholog of Npm3. Results Human genomic and cDNA clones of NPM3 were isolated and sequenced. NPM3 lies 5.5 kb upstream of FGF8 and thus maps to chromosome 10q24-26. In addition to amino acid similarities, NPM3 shares many physical characteristics with the nucleophosmin/nucleoplasmin family, including an acidic domain, multiple potential phosphorylation sites and a putative nuclear localization signal. Comparative analyses of 14 members of this family from various metazoans suggest that Xenopus NO29 is a candidate ortholog of human and mouse NPM3, and they further group both proteins closer with the nucleoplasmins than with the nucleophosmins. Northern blot analysis revealed that NPM3 was strongly expressed in all 16 human tissues examined, with especially robust expression in pancreas and testis; lung displayed the lowest level of expression. An analysis of subcellular fractions of NIH3T3 cells expressing epitope-tagged NPM3 revealed that NPM3 protein was localized solely in the nucleus. Conclusions Human NPM3 is an abundant and widely expressed protein with primarily nuclear localization. These biological activities, together with its physical relationship to the chaparones nucleoplasmin and nucleophosmin, are consistent with the proposed function of NPM3 as a molecular chaperone functioning in the nucleus.

  16. Do nuclear-encoded core subunits of mitochondrial complex I confer genetic susceptibility to schizophrenia in Han Chinese populations?

    Science.gov (United States)

    Li, Xiao; Zhang, Wen; Tang, Jinsong; Tan, Liwen; Luo, Xiong-jian; Chen, Xiaogang; Yao, Yong-Gang

    2015-01-01

    Schizophrenia is one of the most prevalent psychiatric disorders with complex genetic etiology. Accumulating evidence suggests that energy metabolism and oxidative stress play important roles in the pathophysiology of schizophrenia. Dysfunction of mitochondrial respiratory chain and altered expression of complex I subunits were frequently reported in schizophrenia. To investigate whether nuclear-encoded core subunit genes of mitochondrial complex I are associated with schizophrenia, we performed a genetic association study in Han Chinese. In total, 46 tag single nucleotide polymorphisms (SNPs) from 7 nuclear-encoded core genes of mitochondrial complex I were genotyped in 918 schizophrenia patients and 1042 healthy controls. We also analyzed these SNPs in a large sample mainly composed of Europeans through using the available GWAS datasets from the Psychiatric Genomics Consortium (PGC). No significant associations were detected between these SNPs and schizophrenia in Han Chinese and the PGC data set. However, we observed nominal significant associations of 2 SNPs in the NDUFS1 gene and 4 SNPs in the NDUFS2 gene with early onset schizophrenia (EOS), but none of these associations survived the Bonferroni correction. Taken together, our results suggested that common SNPs in the nuclear-encoded core subunit genes of mitochondrial complex I may not confer genetic susceptibility to schizophrenia. PMID:26053550

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

    Directory of Open Access Journals (Sweden)

    Hong-Yang Wang

    2015-01-01

    Full Text Available 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.Y136FNx01 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.

  18. Development and Iterative Refinement of an Internet-based Service for Chinese Family Caregivers of People with Alzheimer Disease

    OpenAIRE

    Chiu, T.; Lottridge, D.

    2005-01-01

    This poster reports on the developmental phase of a new internet-based support services (ICSS) for Chinese caregivers of people with Alzheimer Disease (AD): a specialized email application and an informational website. Bilingual Chinese caregivers wanted internet-based information in both Chinese and English. Usability testing and heuristic evaluation results revealed that the interface successfully supported the core functionality, but can be refined to improve usability.

  19. Sustainability of the Chinese nuclear expansion: Natural uranium resources availability, Pu cycle, fuel utilization efficiency and spent fuel management

    International Nuclear Information System (INIS)

    Highlights: • We simulated 4 different future nuclear fuel cycle scenarios. • The ADS and FRs impact on the future Chinese nuclear fuel cycle is studied. • The partition and transmutation option is compared against the simple reprocessing. • The U requirement, Pu flow and MA cycle are key aspects for decision makers. - Abstract: The civil nuclear energy deployment in China is important for future “Nuclear Renaissance” of China and worldwide. Compared to the other nations that developed their nuclear power energy system in last century, China can take advantage of the research and mistakes made by those states in relation to the back-end of the nuclear fuel cycle (NFC). The spent fuel accumulated by decades of operations of civil nuclear power is today a big burden for the industry. China must carefully plan the NFC for a sustainable development of the nuclear energy with special consideration to close the fuel cycle. The present paper addresses the NFC options and implications of a LWR scenario development and of a fast reactor park developed after 2035 and 2050, and covers the historical development of nuclear energy in China (i.e. from the first criticality of the first reactor) to the year 2100. The paper studies the partition and transmutation strategy with the use of accelerator driven system (ADS) to burn the minor actinides (MA) to understand the ADS impact on the NFC and to estimate the number and the necessary deploying schedule of the ADS reactors to limit the minor actinides stock build up. The other aspects taken into consideration for the comparison of the different scenarios are the natural uranium resourced used, the efficiency of fuel utilization, the proliferation and diversion risks associated to each scenario and the overall spent fuel production and flow. The code INFCIS developed by the International Atomic Energy Agency (IAEA) is used in the present study

  20. United States population dose estimates for 131I in the thyroid after the Chinese atmospheric nuclear weapons tests

    International Nuclear Information System (INIS)

    Analysis of samples collected within the United States after the Chinese atmospheric nuclear weapons tests of 26 September and 17 November 1976 indicates that the radiation dose to the thyroid from iodine-131 in milk was predominant. A U.S. population dose to the thyroid of 68,000 man-rads was calculated for the iodine-131 fallout. The four excess thyroid cancers that are estimated to occur as a result of the September test during the next 45 years will be masked by the 380,000 cases of thyroid cancer which are expected to occur in the United States from all causes during the same interval

  1. 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

  2. Extremely low penetrance of deafness associated with the mitochondrial 12S rRNA mutation in 16 Chinese families: Implication for early detection and prevention of deafness

    International Nuclear Information System (INIS)

    Mutations in mitochondrial DNA (mtDNA) have been found to be associated with sensorineural hearing loss. We report here the clinical, genetic, and molecular characterization of 16 Chinese pedigrees (a total of 246 matrilineal relatives) with aminoglycoside-induced impairment. Clinical evaluation revealed the variable phenotype of hearing impairment including audiometric configuration in these subjects, although these subjects share some common features: being bilateral and sensorineural hearing impairment. Strikingly, these Chinese pedigrees exhibited extremely low penetrance of hearing loss, ranging from 4% to 18%, with an average of 8%. In particular, nineteen of 246 matrilineal relatives in these pedigrees had aminoglycoside-induced hearing loss. Mutational analysis of the mtDNA in these pedigrees showed the presence of homoplasmic 12S rRNA A1555G mutation, which has been associated with hearing impairment in many families worldwide. The extremely low penetrance of hearing loss in these Chinese families carrying the A1555G mutation strongly supports the notion that the A1555G mutation itself is not sufficient to produce the clinical phenotype. Children carrying the A1555G mutation are susceptible to the exposure of aminoglycosides, thereby inducing or worsening hearing impairment, as in the case of these Chinese families. Using those genetic and molecular approaches, we are able to diagnose whether children carry the ototoxic mtDNA mutation. Therefore, these data have been providing valuable information and technology to predict which individuals are at risk for ototoxicity, to improve the safety of aminoglycoside therapy, and eventually to decrease the incidence of deafness

  3. 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.

  4. Power, Resistance, and Emotional Economies in Women's Relationships with Mothers-in-Law in Chinese Immigrant Families

    Science.gov (United States)

    Shih, Kristy Y.; Pyke, Karen

    2010-01-01

    This interview study interrogates how cultural values of filial piety inform Chinese American daughters-in-law's understanding of their relationship and power dynamics with immigrant Chinese American mothers-in-law. Ideals of filial respect accord limited authority to mothers-in-law, who engage other mechanisms of power, such as their domestic…

  5. The Nuclear Family: Correspondence in Cognitive and Affective Reactions to the Threat of Nuclear War among Older Adolescents and Their Parents.

    Science.gov (United States)

    Hamilton, Scott B.; And Others

    1986-01-01

    In order to assess the relationship between family members' cognitive and affective responses to nuclear war issues, 317 college students and their parents independently completed a multifaceted questionnaire that included items concerning personal reactions, predictions, opinions, and attitudes about nuclear war. (Author/LMO)

  6. Two members of a conserved family of nuclear phosphoproteins are involved in pre-mRNA splicing.

    OpenAIRE

    Mayeda, A; Zahler, A M; Krainer, A R; Roth, M B

    1992-01-01

    Monoclonal antibody 104 recognizes a subset of amphibian nuclear granules (B-snurposomes) and active sites of RNA polymerase II transcription in vertebrates and invertebrates. Monoclonal antibody 104 reacts with a set of nuclear serine- and arginine-rich phosphoproteins (SR family) with strikingly conserved apparent molecular masses. The most abundant family members in human (SRp33) and Drosophila (SRp55) cell lines can replace one another as essential splicing factors in a human cell-free sy...

  7. Fostering of Innovative Talents Based on Disciplinary Construction: HRD Strategy of Chinese Nuclear Power Industry

    International Nuclear Information System (INIS)

    Workforce challenge to nuclear power industry: • We are facing the aging workforce and talent loss since the tough time of nuclear power industry. • Professional workforce fostering in nuclear power industry always needs a long period of time. • Professional workforce fostering in nuclear power industry is a systematic and interdisciplinary work. Talents fostering in nuclear power industry: Major measures → national overall planning; engineering practice; knowledge management; disciplinary construction; cooperation and communication

  8. Conservation of RNA secondary structures in two intron families including mitochondrial-, chloroplast- and nuclear-encoded members.

    OpenAIRE

    Michel, F; Dujon, B

    1983-01-01

    Two families of fungal mitochondrial introns that include all known sequences have been recognized. These families are now extended to incorporate a plant mitochondrial intron and several introns in chloroplast- and nuclear-encoded rRNA and tRNA precursors. Members of the same family share distinctive sequence stretches and a number of potential RNA secondary structures that would bring these stretches and the intron-exon junctions into relatively close proximity. Using several of these intro...

  9. 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。

  10. 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。

  11. MLH1 promoter germline-methylation in selected probands of Chinese hereditary non-polyposis colorectal cancer families

    OpenAIRE

    Zhou, Heng-Hua; Yan, Shi-Yan; Zhou, Xiao-Yan; Du, Xiang; Zhang, Tai-Ming; Cai, Xu; Lu, Yong-Ming; Cai, San-Jun; Shi, Da-Ren

    2008-01-01

    AIM: To detect the MLH1 gene promoter germline-methylation 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.

  12. Nuclear localization of Src-family tyrosine kinases is required for growth factor-induced euchromatinization

    International Nuclear Information System (INIS)

    Src-family kinases (SFKs), which participate in various signaling events, are found at not only the plasma membrane but also several subcellular compartments, including the nucleus. Nuclear structural changes are frequently observed during transcription, cell differentiation, senescence, tumorigenesis, and cell cycle. However, little is known about signal transduction in the alteration of chromatin texture. Here, we develop a pixel imaging method for quantitatively evaluating chromatin structural changes. Growth factor stimulation increases euchromatic hypocondensation and concomitant heterochromatic hypercondensation in G1 phase, and the levels reach a plateau by 30 min, sustain for at least 5 h and return to the basal levels after 24 h. Serum-activated SFKs in the nucleus were more frequently detected in the euchromatin areas than the heterochromatin areas. Nuclear expression of kinase-active SFKs, but not unrelated Syk kinase, drastically increases both euchromatinization and heterochromatinization in a manner dependent on the levels of nuclear tyrosine phosphorylation. However, growth factor stimulation does not induce chromatin structural changes in SYF cells lacking SFKs, and reintroduction of one SFK member into SYF cells can, albeit insufficiently, induce chromatin structural changes. These results suggest that nuclear tyrosine phosphorylation by SFKs plays an important role in chromatin structural changes upon growth factor stimulation.

  13. Cloning and Functional Analysis of Histones H3 and H4 in Nuclear Shaping during Spermatogenesis of the Chinese Mitten Crab, Eriocheir sinensis.

    Directory of Open Access Journals (Sweden)

    Jiang-Li Wu

    Full Text Available During spermatogenesis in most animals, the basic proteins associated with DNA are continuously changing and somatic-typed histones are partly replaced by sperm-specific histones, which are then successively replaced by transition proteins and protamines. With the replacement of sperm nuclear basic proteins, nuclei progressively undergo chromatin condensation. The Chinese Mitten Crab (Eriocheir sinensis is also known as the hairy crab or river crab (phylum Arthropoda, subphylum Crustacea, order Decapoda, and family Grapsidae. The spermatozoa of this species are aflagellate, and each has a spherical acrosome surrounded by a cup-shaped nucleus, peculiar to brachyurans. An interesting characteristic of the E. sinensis sperm nucleus is its lack of electron-dense chromatin. However, its formation is not clear. In this study, sequences encoding histones H3 and H4 were cloned by polymerase chain reaction amplification. Western blotting indicated that H3 and H4 existed in the sperm nuclei. Immunofluorescence and ultrastructural immunocytochemistry demonstrated that histones H3 and H4 were both present in the nuclei of spermatogonia, spermatocytes, spermatids and mature spermatozoa. The nuclear labeling density of histone H4 decreased in sperm nuclei, while histone H3 labeling was not changed significantly. Quantitative real-time PCR showed that the mRNA expression levels of histones H3 and H4 were higher at mitotic and meiotic stages than in later spermiogenesis. Our study demonstrates that the mature sperm nuclei of E. sinensis contain histones H3 and H4. This is the first report that the mature sperm nucleus of E. sinensis contains histones H3 and H4. This finding extends the study of sperm histones of E. sinensis and provides some basic data for exploring how decapod crustaceans form uncondensed sperm chromatin.

  14. 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 ...

  15. Visit of the chinese Vice-President of the people's republic of China, Hu Jintao, at the Bugey nuclear power plant

    International Nuclear Information System (INIS)

    During the visit of the Vice-President of the people's republic of China at the Bugey nuclear power plant, EDF showed its will of cooperation with China in the energy domain. This document presents the main aspects of this cooperation: the chinese electric power system panorama, the EDF investments in China and the future development. (A.L.B.)

  16. 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

  17. 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.

  18. Association of A Common Haplotype of Hepatocyte Nuclear Factor 1α With Type 2 Diabetes in Chinese Population

    Institute of Scientific and Technical Information of China (English)

    CONG-RONG WANG; CHENG HU; RONG ZHANG; QI-CHEN FANG; XIAO-JING MA; WEI-PING JIA; KUN-SAN XIANG

    2007-01-01

    Objective To analyze the association of variants of hepatocyte nuclear factor-1α (HNF-1α) gene with type 2 diabetes in Chinese population. Methods In 152 unrelated type 2 diabetes patients and 93 unrelated controls, eleven single nucleotide polymorphisms (SNPs) were identified and genotyped. Statistical analyses were performed to investigate whether these SNPs were associated with diabetes status in our samples. Results In the individual SNP study, no SNP differed significantly in frequency between type 2 diabetes patients and controls. In the haplotype analysis, two haplotype blocks were identified. In haplotype block 1, no evidence was found between common HNF-1α haplotypes and type 2 diabetes. However, in haplotype block 2, a common haplotype GCGC formed by four tagging SNPs (tSNPs) was found to be associated with decreased risk of type 2 diabetes (odds ratio [OR] 0.6011, 95% confidence interval [CI] 0.4138-0.8732,P=0.0073, empirical P=0.0511, permutation test). A similar trend was also observed in the diplotype analysis, indicating that the increasing copy number of the haplotype GCGC was associated with the decreased frequency of diabetes (P=0.0193). Conclusion The results of this study provide evidence that the haplotype of HNF-1α decreases the risk of type 2 diabetes in Chinese individuals.

  19. p53 nuclear accumulation and ERα expression in ductal hyperplasia of breast in a cohort of 215 Chinese women

    Directory of Open Access Journals (Sweden)

    Mao Xiao-yun

    2010-08-01

    Full Text Available Abstract Introduction Women with ductal hyperplasia including usual ductal hyperplasia (UDH and atypical ductal hyperplasia (ADH have an increased risk of developing invasive ductal carcinoma (IDC of breast. The importance of several molecular markers in breast cancer has been of considerable interest during recent years such as p53 and estrogen receptor alpha (ERα. However, p53 nuclear accumulation and ERα expression have not been assessed in ductal hyperplasia co-existing with ductal carcinoma in situ (DCIS or IDC versus pure ductal hyperplasia without DCIS or IDC. Materials and methods We investigated p53 nuclear accumulation and ERα expression in breast ductal hyperplasia in a cohort of 215 Chinese women by immunohistochemistry (IHC, which included 129 cases of pure ductal hyperplasia, 86 cases of ductal hyperplasia co-existing with DCIS (41 cases or IDC (45 cases. Results Nuclear p53 accumulation was identified in 22.8% of ADH (31/136, 41.5% of DCIS (17/41 and 42.2% of IDC (19/45, and no case of UDH (0/79. No difference in nuclear p53 accumulation was observed between pure ADH and ADH co-existing with DCIS (ADH/DCIS or IDC (ADH/IDC (P > 0.05. The positive rate of ERα expression was lower in ADH (118/136, 86.8% than that in UDH (79/79, 100% (P P P P Conclusions Different pathological types of ductal hyperplasia of breast are accompanied by diversity in patterns of nuclear p53 accumulation and ERα expression. At least some pure ADH is molecularly distinct from ADH/CIS or ADH/IDC which indicated the two types of ADH are molecularly distinct entities although they have the same morphological appearance.

  20. Necessity of Internal Monitoring for Nuclear Medicine Staff in a Large Specialized Chinese Hospital.

    Science.gov (United States)

    Wang, Hong-Bo; Zhang, Qing-Zhao; Zhang, Zhen; Hou, Chang-Song; Li, Wen-Liang; Yang, Hui; Sun, Quan-Fu

    2016-01-01

    This work intends to quantify the risk of internal contaminations in the nuclear medicine staff of one hospital in Henan province, China. For this purpose, the criteria proposed by the International Atomic Energy Agency (IAEA) to determine whether it is necessary to conduct internal individual monitoring was applied to all of the 18 nuclear medicine staff members who handled radionuclides. The activity of different radionuclides used during a whole calendar year and the protection measures adopted were collected for each staff member, and the decision as to whether nuclear medicine staff in the hospital should be subjected to internal monitoring was made on the basis of the criteria proposed by IAEA. It is concluded that for all 18 members of the nuclear medicine staff in the hospital, internal monitoring is required. Internal exposure received by nuclear medicine staff should not be ignored, and it is necessary to implement internal monitoring for nuclear medicine staff routinely. PMID:27077874

  1. AHSG gene polymorphisms are associated with bone mineral density in Caucasian nuclear families

    International Nuclear Information System (INIS)

    Purpose. To investigate the role of alpha2-HS glycoprotein (AHSG) gene on bone mineral density (BMD) variation. Methods. A total of 665 subjects from 157 Caucasian nuclear families were genotyped at the AHSG NlaIII, SacI sites. The association and linkage between the single SNP markers and haplotypes constructed by two markers in this gene and BMDs at the spine and hip were determined by using quantitative transmission disequilibrium test (QTDT). Results. Significant within-family associations were obtained for spine BMD at both of studied markers (P = 0.036 and 0.005 at the NlaIII and SacI sites, respectively). Significant (P = 0.008 at the NlaIII locus) (P = 0.004 at the SacI locus) total associations at spine BMD were detected. Haplotype analyses confirmed those within-family and total association. Conclusions. These data suggest the polymorphisms in the AHSG gene may have effects on BMD variation in Caucasian population

  2. Polymorphism of Methionine Synthase Gene in Nuclear Families of Congenital Heart Disease

    Institute of Scientific and Technical Information of China (English)

    WEN-LI ZHU; JUN CHENG; JING-JING DAO; RU-BING ZHAO; LI-YING YAN; SHU-QING LI; AND YONG LI

    2004-01-01

    Objective To investgate the relation of methionine synthase (MS) gene variation with congenital heart disease (CHD) phenotype. Methods One hundred and ninety three CHD patients (94 males and 99 females) and their biological parents (nuclear families) in Liaoning Province were selected as the case group, and another 104 normal persons (60 males and 44 females) and their parents without family history of birth defects as the control group. For all subjects the polymorphism of MS gene A2756G locus was examined by PCR-RFLP method. Results In offspring of the control group the frequencies of MS genotype (+/-) and allele (+) were 10.7% and 5.3%, without existence of homozygote. The MS genotype distribution and allele frequencies of CHD patients and their mothers were not significantly different from the control (P > 0.05). The frequency of allele (+)in case fathers (5.0 %) was apparently lower than that in the control (9.1%, P=0.060), and the odds ratio (OR) was 0.53 (95% CI: 0.25-1.09). There was no difference in parents' genotype combination between the two groups, and in genotype distribution among different types of CHD. Analysis of genetic transmission indicated that mutation allele (+) existed transmission disequilibrium in CHD nuclear families. The percentage of allele (+) transmitted from parents was lower than that allele (-)with OR 0.26 (95% CI: 0.11-0.60). Conclusion MS gene variation in parents is associated with occurrence of CHD in offspring, and mutation allele (+) in parents may be related with the decrease of CHD risk in offspring.

  3. Comparative study of models for predicting permeability from nuclear magnetic resonance (NMR) logs in two Chinese tight sandstone reservoirs

    Science.gov (United States)

    Xiao, Liang; Liu, Xiao-Peng; Zou, Chang-Chun; Hu, Xiao-Xin; Mao, Zhi-Qiang; Shi, Yu-Jiang; Guo, Hao-Peng; Li, Gao-Ren

    2014-02-01

    Based on the analysis of mercury injection capillary pressure (MICP) and nuclear magnetic resonance (NMR) experimental data for core plugs, which were drilled from two Chinese tight sandstone reservoirs, permeability prediction models, such as the classical SDR, Timur-Coates, the Swanson parameter, the Capillary Parachor, the R10 and R35 models, are calibrated to estimating permeabilities from field NMR logs, and the applicabilities of these permeability prediction models are compared. The processing results of several field examples show that the SDR model is unavailable in tight sandstone reservoirs. The Timur-Coates model is effective once the optimal T 2cutoff can be acquired to accurately calculate FFI and BVI from field NMR logs. The Swanson parameter model and the Capillary Parachor model are not always available in tight sandstone reservoirs. The R35 based model cannot effectively work in tight sandstone reservoirs, while the R10 based model is optimal in permeability prediction.

  4. 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

  5. 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.

  6. Reconstruction of Family-Level Phylogenetic Relationships within Demospongiae (Porifera) Using Nuclear Encoded Housekeeping Genes

    Science.gov (United States)

    Hill, Malcolm S.; Hill, April L.; Lopez, Jose; Peterson, Kevin J.; Pomponi, Shirley; Diaz, Maria C.; Thacker, Robert W.; Adamska, Maja; Boury-Esnault, Nicole; Cárdenas, Paco; Chaves-Fonnegra, Andia; Danka, Elizabeth; De Laine, Bre-Onna; Formica, Dawn; Hajdu, Eduardo; Lobo-Hajdu, Gisele; Klontz, Sarah; Morrow, Christine C.; Patel, Jignasa; Picton, Bernard; Pisani, Davide; Pohlmann, Deborah; Redmond, Niamh E.; Reed, John; Richey, Stacy; Riesgo, Ana; Rubin, Ewelina; Russell, Zach; Rützler, Klaus; Sperling, Erik A.; di Stefano, Michael; Tarver, James E.; Collins, Allen G.

    2013-01-01

    Background Demosponges are challenging for phylogenetic systematics because of their plastic and relatively simple morphologies and many deep divergences between major clades. To improve understanding of the phylogenetic relationships within Demospongiae, we sequenced and analyzed seven nuclear housekeeping genes involved in a variety of cellular functions from a diverse group of sponges. Methodology/Principal Findings We generated data from each of the four sponge classes (i.e., Calcarea, Demospongiae, Hexactinellida, and Homoscleromorpha), but focused on family-level relationships within demosponges. With data for 21 newly sampled families, our Maximum Likelihood and Bayesian-based approaches recovered previously phylogenetically defined taxa: Keratosap, Myxospongiaep, Spongillidap, Haploscleromorphap (the marine haplosclerids) and Democlaviap. We found conflicting results concerning the relationships of Keratosap and Myxospongiaep to the remaining demosponges, but our results strongly supported a clade of Haploscleromorphap+Spongillidap+Democlaviap. In contrast to hypotheses based on mitochondrial genome and ribosomal data, nuclear housekeeping gene data suggested that freshwater sponges (Spongillidap) are sister to Haploscleromorphap rather than part of Democlaviap. Within Keratosap, we found equivocal results as to the monophyly of Dictyoceratida. Within Myxospongiaep, Chondrosida and Verongida were monophyletic. A well-supported clade within Democlaviap, Tetractinellidap, composed of all sampled members of Astrophorina and Spirophorina (including the only lithistid in our analysis), was consistently revealed as the sister group to all other members of Democlaviap. Within Tetractinellidap, we did not recover monophyletic Astrophorina or Spirophorina. Our results also reaffirmed the monophyly of order Poecilosclerida (excluding Desmacellidae and Raspailiidae), and polyphyly of Hadromerida and Halichondrida. Conclusions/Significance These results, using an

  7. Social support and antenatal depression in extended and nuclear family environments in Turkey: a cross-sectional survey

    Directory of Open Access Journals (Sweden)

    Berksun Oguz

    2011-03-01

    Full Text Available Abstract Background Social support is strongly implicated in the aetiology of perinatal mental disorder: particularly the quality of the marital and family environment. Family structures are important under-researched potential modifiers. Turkey offers particular advantages for research in this area because of long-standing coexistence of Western and Middle Eastern family structures. We aimed to investigate associations between the quality of key relationships and depression in women in their third trimester of pregnancy, and the extent to which these associations were modified by family structure. Method Women attending antenatal clinics in their third trimester were recruited from urban and rural settings in Ankara. A nuclear family structure was defined as a wife and husband living alone or with their children in the same household, whereas a traditional/extended family structure was defined if another adult was living with the married couple in the same household. Depression was ascertained using the Edinburgh Postnatal Depression Scale (EPDS and social support was assessed by the Close Person Questionnaire with respect to the husband, mother and mother-in-law. Social support was compared between participants with/without case-level depression on the EPDS in linear regression models adjusted for relevant covariates, then stratified by nuclear/traditional family structure. Results Of 772 women approached, 751 (97.3% participated and 730 (94.6% had sufficient data for this analysis. Prevalence of case-level depression was 33.1% and this was associated with lower social support from all three family members but not with traditional/nuclear family structure. The association between depression and lower emotional support from the husband was significantly stronger in traditional compared to nuclear family environments. Conclusions Lower quality of relationships between key family members was strongly associated with third trimester depression

  8. Successful completion of the Qinshan phase III nuclear power plant-a successful model for Chinese-Canadian cooperation

    International Nuclear Information System (INIS)

    This report documents Qinshan CANDU project construction and commissioning experience as well as management strategies and approaches that contributed to the successful completion of the project. The Qinshan phase III (CANDU) nuclear power plant was built in record times: Unit 1 achieved commercial operation on December 31, 2002 and Unit 2 on July 24, 2003, 43 days and 112 days ahead of schedule respectively. The reference plant design is the Wolsong 3 and 4 CANDU-6 units in the Republic of Korea. Improvements in design and construction methods allowed Unit 1 to be constructed in 51.5 Months from First Concrete to Criticality-a record in China for nuclear power plants. The key factors are project management and project management tools, quality assurance, construction methods (including open top construction, heavy lifts and modularization), electronic documentation with configuration control that provides up-to-date on-line information, CADDS design linked with material management, specialized material control including bar coding, and planning. The introduction of new design and construction techniques was achieved by combining conventional AECL practices with working experiences in China. The most advanced tools and techniques for achieving optimum construction quality, schedule and cost were used. Successful application of advanced project management methods and tools will benefit TQNPC in operation of the station, and the Chinese contractors in advancing their capabilities in future nuclear projects in China and enhancing their opportunities internationally. TQNPC's participation in Quality surveillance (QS) activities of nuclear steam plant (NSP) and Balance of Plant (BOP) offshore equipment benefited TQNPC in acquiring knowledge of specific equipment manufacturing processes, which can be applied to similar activities in China. China has established the capability of manufacturing CANDU fuel and becoming self-reliant in fuel supply. Excellent co-operation and

  9. Novel SIL1 nonstop mutation in a Chinese consanguineous family with Marinesco-Sjögren syndrome and Dandy-Walker syndrome.

    Science.gov (United States)

    Gai, Nan; Jiang, Chen; Zou, Yong-Yi; Zheng, Yu; Liang, De-Sheng; Wu, Ling-Qian

    2016-07-01

    Marinesco-Sjögren syndrome (MSS) is a rare autosomal recessive disorder, which is characterized by congenital cataracts, cerebellar ataxia, progressive muscle weakness, and delayed psychomotor development. SIL1, which is located at 5q31.2, is the only gene known to cause MSS. Dandy-Walker syndrome (DWS) is defined by hypoplasia, upward rotation of the cerebellar vermis, and cystic dilation of the fourth ventricle; however, its genetic pathogeny remains unclear. Here, we report a Chinese consanguineous family with MSS and DWS. Whole exome sequencing identified a novel nonstop mutation in SIL1. Sanger sequencing revealed that the mutation was segregated in this family according to a recessive mode of inheritance. We found that the mutation changed a stop codon (TGA) to an arginine codon (CGA), and no in-frame termination codon in the 3' untranslated region (UTR) of SIL1 could be found. The mRNA levels of SIL1 were decreased by 56.6% and 37.5% in immortalized lymphoblasts of the patients respectively; the protein levels of SIL1 were substantially decreased. This case study is the first report on Chinese MSS patients, MSS complicated by DWS, and a nonstop mutation in SIL1. Our findings imply the pathogenetic association between DWS and MSS. PMID:27106665

  10. Chinese nuclear power projects investment programming model and analysis of financing approaches

    International Nuclear Information System (INIS)

    China nuclear power projects investment programming model (NUPIP) is presented in this paper. Different kinds of financing approaches are analysed. The annual financing requirement is calculated according to a supposed nuclear power programme from 1991 to 2000 which may be the maximum financing amount scenario in this period. Sensitivity analyses are made for some of the variables which are of effect on financing requirement. The results show that the government investment and funds raised by localities are the principal financing resources for home-made units at the initial stage of nuclear power development, and the reserve funds from sales profits of nuclear electricity will become the important resource along with the development of nuclear power. (author). 3 tabs

  11. Engineering Safety Aspects of the Protection of Nuclear Power Plants Against Sabotage (Chinese Edition)

    International Nuclear Information System (INIS)

    The IAEA helps to identify threats and vulnerabilities related to the security of nuclear and other radioactive material. However, it is the responsibility of States to provide for the physical protection of nuclear and other radioactive material and the associated facilities, to ensure the security of such material in transport, and to combat illicit trafficking and the inadvertent movement of radioactive material. This publication provides guidelines for the assessment of the engineering safety aspects of the protection of nuclear power plants against sabotage, including standoff attacks. This publication is the result of extensive dialogue between safety and security specialists within and outside the IAEA. It also takes into account feedback from regulatory agencies and design organizations. It expands on more general concepts concerning the physical protection of nuclear material and nuclear facilities against sabotage

  12. GDR. Giant Dipole Resonance parameters for gamma-rays. A data file compiled on PC diskette by the Chinese Nuclear Data Center. Summary documentation

    International Nuclear Information System (INIS)

    This document summarizes contents and format of a PC data file of properties of the giant dipole resonances derived from measurements made with monoenergetic photon beams. The IAEA Nuclear Data Section (NDS) received this file from Su Zongdi, Chinese Nuclear Data Centre in June 1992, based on integrated cross-sections and the parameters of Lorentz curves fitted to the giant-resonance data reported by Samuel S. Dietrich and Barry L. Berman in 1988. The data file is available free of charge from the IAEA Nuclear Data Section upon request on PC diskette. (author)

  13. The current status of Chinese nuclear power industry and its future

    International Nuclear Information System (INIS)

    During the past 30 years, economy of China has being grown strongly. Even in the year 2009, when the world was hit by the financial crisis, China still kept the 8.7% growth rate. GDP of China has reached 4222G USD. This figure makes China to become the third economic giant in the world. All of the world are focusing on the high-speed development of economy in China; meanwhile they also pay much attention on the energy consumption in China. In addition, as one of the policy to keep the stable supply of the energy and to cut off the drain of CO2, China now are building more and more nuclear power stations. Many developed countries are very interested in the big market. Some have already joined in the construction of nuclear power stations in China, while some may concern about the supply of the nuclear fuel, as well as nuclear safety in China. The present paper will give a close-up view on China status of the energy, especially the nuclear power industry. It is expected that the international community could have deeper and more complete understanding on the nuclear industry in China, moreover cooperate with China to improve the peace and safe utilization of nuclear energy for the sustainable development of the world. (author)

  14. 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…

  15. Genetic and environmental influences on blood pressure and physical activity: a study of nuclear families from Muzambinho, Brazil

    OpenAIRE

    Forjaz, C.L.M.; Bartholomeu, T.; J.A.S. Rezende; J. A. de Oliveira; Basso, L.; Tani, G.; A. Prista; Maia, J.A.R.

    2012-01-01

    Blood pressure (BP) and physical activity (PA) levels are inversely associated. Since genetic factors account for the observed variation in each of these traits, it is possible that part of their association may be related to common genetic and/or environmental influences. Thus, this study was designed to estimate the genetic and environmental correlations of BP and PA phenotypes in nuclear families from Muzambinho, Brazil. Families including 236 offspring (6 to 24 years) and their 82 fathers...

  16. γ-Hadron family description by quasi-scaling model at normal nuclear composition of primary cosmic rays

    International Nuclear Information System (INIS)

    Primary Cosmic Rays Nuclear Composition was investigated in energy region 1015-1016 eV. The study is based on comparison of γ hadron families observed by Pamir and Pamir-Chacaltaya collaborations with those generated by means of quasi-scaling model MC0 at different nuclear compositions. It was shown that all characteristics of the observed families (including their intensity) are in very good agreement with properties of simulated events MC0 at normal composition and are in disagreement at heavy dominant compositions

  17. Combating illicit trafficking in nuclear and other radioactive material. Technical guidance. Reference manual. (Chinese Edition)

    International Nuclear Information System (INIS)

    This publication is intended for individuals and organizations that may be called upon to deal with the detection of and response to criminal or unauthorized acts involving nuclear or other radioactive material. It will also be useful for legislators, law enforcement agencies, government officials, technical experts, lawyers, diplomats and users of nuclear technology. This manual emphasizes the international initiatives for improving the security of nuclear and other radioactive material. However, it is recognized that effective measures for controlling the transfer of equipment, non-nuclear material, technology or information that may assist in the development of nuclear explosive devices, improvised nuclear devices (INDs) or other radiological dispersal devices (RDDs) are important elements of an effective nuclear security system. In addition, issues of personal integrity, inspection and investigative procedures are not discussed in this manual, all of which are essential elements for an effective overall security system. The manual considers a variety of elements that are recognized as being essential for dealing with incidents of criminal or unauthorized acts involving nuclear and other radioactive material. Depending on conditions in a specific State, including its legal and governmental infrastructure, some of the measures discussed will need to be adapted to suit that State's circumstances. However, much of the material can be applied directly in the context of other national programmes. This manual is divided into four main parts. Section 2 discusses the threat posed by criminal or unauthorized acts involving nuclear and other radioactive material, as well as the policy and legal bases underlying the international effort to restrain such activities. Sections 3 and 4 summarize the major international undertakings in the field. Sections 5-8 provide some basic technical information on radiation, radioactive material, the health consequences of radiation

  18. Necessity of Internal Monitoring for Nuclear Medicine Staff in a Large Specialized Chinese Hospital

    OpenAIRE

    Hong-Bo Wang; Qing-Zhao Zhang; Zhen Zhang; Chang-Song Hou; Wen-Liang Li; Hui Yang; Quan-Fu Sun

    2016-01-01

    This work intends to quantify the risk of internal contaminations in the nuclear medicine staff of one hospital in Henan province, China. For this purpose, the criteria proposed by the International Atomic Energy Agency (IAEA) to determine whether it is necessary to conduct internal individual monitoring was applied to all of the 18 nuclear medicine staff members who handled radionuclides. The activity of different radionuclides used during a whole calendar year and the protection measures ad...

  19. Phylogeography of Chinese cherry (Prunus pseudocerasus Lindl.) inferred from chloroplast and nuclear DNA: insights into evolutionary patterns and demographic history.

    Science.gov (United States)

    Chen, T; Chen, Q; Luo, Y; Huang, Z-L; Zhang, J; Tang, H-R; Pan, D-M; Wang, X-R

    2015-07-01

    Chinese cherry (Prunus pseudocerasus Lindl.) is a commercially valuable fruit crop in China. In order to obtain new insights into its evolutionary history and provide valuable recommendations for resource conservation, phylogeographic patterns of 26 natural populations (305 total individuals) from six geographic regions were analyzed using chloroplast and nuclear DNA fragments. Low levels of haplotype and nucleotide diversity were found in these populations, especially in landrace populations. It is likely that a combined effect of botanical characteristics impact the effective population size, such as inbreeding mating system, long life span, as well as vegetative reproduction. In addition, strong bottleneck effect caused by domestication, together with founder effect after dispersal and subsequent demographic expansion, might also accelerate the reduction of the genetic variation in landrace populations. Interestingly, populations from Longmen Mountain (LMM) and Daliangshan Mountain (DLSM) exhibited relatively higher levels of genetic diversity, inferring the two historical genetic diversity centers of the species. Moreover, moderate population subdivision was also detected by both chloroplast DNA (GST = 0.215; NST = 0.256) and nuclear DNA (GST = 0.146; NST = 0.342), respectively. We inferred that the episodes of efficient gene flow through seed dispersal, together with features of long generation cycle and inbreeding mating system, were likely the main contributors causing the observed phylogeographic patterns. Finally, factors that led to the present demographic patterns of populations from these regions and taxonomic varieties were also discussed. PMID:25521479

  20. 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.

  1. Reconstruction of family-level phylogenetic relationships within Demospongiae (Porifera using nuclear encoded housekeeping genes.

    Directory of Open Access Journals (Sweden)

    Malcolm S Hill

    Full Text Available BACKGROUND: Demosponges are challenging for phylogenetic systematics because of their plastic and relatively simple morphologies and many deep divergences between major clades. To improve understanding of the phylogenetic relationships within Demospongiae, we sequenced and analyzed seven nuclear housekeeping genes involved in a variety of cellular functions from a diverse group of sponges. METHODOLOGY/PRINCIPAL FINDINGS: We generated data from each of the four sponge classes (i.e., Calcarea, Demospongiae, Hexactinellida, and Homoscleromorpha, but focused on family-level relationships within demosponges. With data for 21 newly sampled families, our Maximum Likelihood and Bayesian-based approaches recovered previously phylogenetically defined taxa: Keratosa(p, Myxospongiae(p, Spongillida(p, Haploscleromorpha(p (the marine haplosclerids and Democlavia(p. We found conflicting results concerning the relationships of Keratosa(p and Myxospongiae(p to the remaining demosponges, but our results strongly supported a clade of Haploscleromorpha(p+Spongillida(p+Democlavia(p. In contrast to hypotheses based on mitochondrial genome and ribosomal data, nuclear housekeeping gene data suggested that freshwater sponges (Spongillida(p are sister to Haploscleromorpha(p rather than part of Democlavia(p. Within Keratosa(p, we found equivocal results as to the monophyly of Dictyoceratida. Within Myxospongiae(p, Chondrosida and Verongida were monophyletic. A well-supported clade within Democlavia(p, Tetractinellida(p, composed of all sampled members of Astrophorina and Spirophorina (including the only lithistid in our analysis, was consistently revealed as the sister group to all other members of Democlavia(p. Within Tetractinellida(p, we did not recover monophyletic Astrophorina or Spirophorina. Our results also reaffirmed the monophyly of order Poecilosclerida (excluding Desmacellidae and Raspailiidae, and polyphyly of Hadromerida and Halichondrida. CONCLUSIONS

  2. Communication with the Public in a Nuclear or Radiological Emergency. Emergency Preparedness and Response (Chinese Edition)

    International Nuclear Information System (INIS)

    The aim of this publication is to provide practical guidance for public information officers on the preparation for and response to a nuclear or radiological emergency, and to fulfil in part functions assigned to the IAEA in the Convention on Assistance in the Case of a Nuclear Accident or Radiological Emergency (Assistance Convention), as well as meeting requirements stated in IAEA Safety Standards Series No. SF-1, Fundamental Safety Principles, and in IAEA Safety Standards No. GS-R-2, Preparedness and Response for a Nuclear or Radiological Emergency. Under Article 5(a)(ii) of the Assistance Convention, one function of the IAEA is to collect and disseminate to States Parties and Member States information concerning methodologies, techniques and results of research relating to response to nuclear or radiological emergencies. IAEA Safety Standards Series No. GS-R-2 establishes the requirements for an adequate level of preparedness for and response to a nuclear or radiological emergency in any State, and specifies that 'All practicable steps shall be taken to provide the public with useful, timely, truthful, consistent and appropriate information throughout a nuclear or radiological emergency' in the response phase. It also requires 'responding to incorrect information and rumours; and responding to requests for information from the public and from the news and information media'. This publication provides guidance in the form of action guides and information sheets that can be easily applied by a State to build a basic capability to respond to a nuclear or radiological emergency. This guidance should be adapted to fit the user State's organizational arrangements, language, terminology, concept of operation and capabilities. This publication is published as part of the IAEA's Emergency Preparedness and Response series and complements the Manual for First Responders to a Radiological Emergency in the parts related to the tasks of public information officers. It takes

  3. Some Ways in Which Neighborhoods, Nuclear Families, Friendship Groups, and Schools Jointly Affect Changes in Early Adolescent Development.

    Science.gov (United States)

    Cook, Thomas D.; Herman, Melissa R.; Phillips, Meredith; Settersten, Richard A., Jr.

    2002-01-01

    This study assessed how schools, neighborhoods, nuclear families, and friendship groups jointly contribute to positive change during early adolescence. Analyses showed that the four context indices modestly intercorrelated at the individual student level, but clustered more tightly at the school and neighborhood levels. Joint influence of all four…

  4. 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

  5. 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.

  6. HASL measurements of fallout following the September 26, 1976 Chinese nuclear test

    International Nuclear Information System (INIS)

    Results are reported from measurements of radioactivity in the fallout from the nuclear test conducted by the Peoples Republic of China on September 26th, 1976. These measurements were carried on through Monday, October 18th. Results of these measurements made in New York and New Jersey, including external radiation exposure, air concentrations, deposition and the concentration of radioiodine in milk, are reported. An estimate of the thyroid dose from milk consumption is also included

  7. Description of gamma-hadron families on the basis of the quasiscaling model for a normal nuclear composition of primary cosmic rays

    International Nuclear Information System (INIS)

    The nuclear composition of primary cosmic rays is investigated in the energy range 1015-1016 eV. These investigations are performed by comparing the properties of the gamma-hadron families observed by the Pamir and the Pamir-Chacaltaya collaboration with the properties of families generated on the basis of the MC0 quasiscaling model for various nuclear compositions. It is shown that all properties of experimental families are in good agreement with the predictions of the MC0 model for a normal nuclear composition, but that these experimental results are at odds with the results of the calculations that assume a nuclear composition enriched in heavy nuclei

  8. Parathyroid hormone induces the Nrna family of nuclear orphan receptors in vivo

    International Nuclear Information System (INIS)

    Parathyroid hormone (PTH) has both anabolic and catabolic effects on bone metabolism, although the molecular mechanisms mediating these effects are largely unknown. Among the transcription factors induced by Pth in osteoblasts are the nerve growth factor-inducible factor B (NR4A; NGFI-B) family of orphan nuclear receptors: Nurr1, Nur77, and NOR-1. PTH induces NR4A members through the cAMP-protein kinase A (PKA) pathway in vitro. We report here that PTH rapidly and transiently induced expression of all three NR4A genes in PTH-target tissues in vivo. In calvaria, long bones, and kidneys, NR4A induction was maximal 0.5-1 h after a single intraperitoneal (i.p.) injection of 80 μg/kg PTH. Nur77 demonstrated the highest expression, followed, in order, by Nurr1 and NOR-1. In calvaria and long bone, PTH-induced expression of each NR4A gene was detectable at 10 μg/kg i.p. with maximum induction at 40-80 μg/kg. PTH (3-34) did not induce NR4A mRNA levels in calvaria, long bone, and kidney in vivo, confirming our in vitro results that NR4A genes are induced primarily through the cAMP-PKA pathway. The magnitude of PTH-induced NR4A expression was comparable in vivo and in vitro. However, NR4A mRNA levels peaked and returned to baseline faster in vivo. Both in vivo and in vitro, PTH induced NR4A pre-mRNA levels suggesting that induction of these genes is, at least in part, through activation of mRNA synthesis. The in vivo induction of the NR4A family members by PTH suggests their involvement in, at least some, PTH-induced changes in bone metabolism

  9. A novel mutation, IVS2-2AgG, associated with acute intermittent porphyria in a Chinese family.

    Science.gov (United States)

    Jiao, Huang; Xianfeng, Zhang; Hui, Han; Yuhong, Zhan; Chu, Zhang

    2015-08-01

    Porphyria is a group of disorders caused by the accumulation of porphyrin and porphyrin precursors due to the abnormalities in certain enzymes that normally participate in the production of haem. We report a case of a woman with severe menstruation-related abdominal pain, hyponatraemia, and psychiatric symptoms. Excessive porphobilinogen was found in her urine. A new mutation in intron 2 (IVS2-2Ag→G), which had never previously been reported in patients with porphyria or in healthy Chinese population, was identified in the heterozygous state in the patient and her mother. PMID:26228342

  10. Study of Epidemiology Conducted in Indian Nuclear Power Plants-Occupational Workers and Family Members

    International Nuclear Information System (INIS)

    At present in India, a nuclear generation capacity of 2720 MWe is in operation with 12 units of pressurised heavy water reactors (PHWRs) and 2 units of boiling water reactors (BWRs). The nature of the effects of the low-doses from ionizing radiation has been the subject considerable interest in the scientific community. The radiation exposures due to the operation of the NPPs are small and at low dose rates. The specific objective of the study were to compute the morbidity (prevalence) of cancer among the radiation occupational workers and their families and to compare with suitable controls and to study prevalence of congenital anomalies among the offspring of the employees of the nuclear power plants in India and to determine, if any, their causal relation with radiation exposure. The data collection work was carried out for survey by the local academic medical institutions near the NPP sites under the guidance of Tata Memorial Hospital, Mumbai. The distribution of the confounding factors among the radiation and non-radiation workers did not show any significant difference and thus the possibility of biased results was minimized. The cross-sectional survey has shown that there was no difference in the prevalence of malignancies in the radiation workers as compared to non-radiation workers, nor was there any difference in the prevalence of malignancies in the radiation workers as compared to non-radiation workers, nor was there any difference in the prevalence of malignancies in spouses and offspring. The study did not show any excess cancers among the study population. The congenital abnormalities observed in the offspring of the employees were much less than the reported values among the newborn children. The study has provided useful indicators and generated reliable baseline data for carrying out further work. Scientific thematic Area: 1) Radiation Effects. (Author)

  11. Radioactive fallout from Chinese nuclear weapons test of March 15, 1978

    International Nuclear Information System (INIS)

    Pacific Northwest Laboratory (PNL) has measured the radionuclide concentration of short-lived debris from a radioactive cloud, produced by a nuclear weapons test conducted by the People's Republic of China on March 15, 1978. Analysis with a 40 cfm Sierra impactor showed that a large portion of the radioactivity was associated with relatively large particles. Surface air samples showed significant concentrations of 124Sb. Samples of rain water from New York State showed that radioactivity arrived on the east coast at about the same time as peak debris levels were observed on the west coast. Highest concentrations of 131I occurred along the Washington State--Canadian border

  12. 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

  13. 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

  14. 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

  15. 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.

  16. The results of investigation in connection with the 18th Chinese nuclear test

    International Nuclear Information System (INIS)

    Concerning the 18th nuclear explosion test of the People's Republic of China, the results of measurements of radioactivity, etc. in Japan are presented. (1) As for gross beta-radioactivity in upper air, the same level as normal was measured in middle and northern Japan. (2) At monitoring posts, the same level as normal was measured across the country. (3) As for gross beta-radioactivity in rain and dry fallout, 56 pCi/ml was detected in Hachijo Island. (4) As for gross beta-radioactivity in airborne dust, 6.0 pCi/m3 was detected in Fukuoka. (5) As for gross beta-radioactivity in dry fallout the same level as normal was measured. (6) As for the Iodine-131 concentration in fresh milk, 113 pCi/l was detected in Ishikawa Prefecture. (7) Analysis of radionuclides. (8) Data concerning the radioactivity surveillance. (J.P.N.)

  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. 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。

  19. Isolation, structural analysis, and expression characteristics of the maize nuclear factor Y gene families.

    Science.gov (United States)

    Zhang, Zhongbao; Li, Xianglong; Zhang, Chun; Zou, Huawen; Wu, Zhongyi

    2016-09-16

    NUCLEAR FACTOR-Y (NF-Y) has been shown to play an important role in growth, development, and response to environmental stress. A NF-Y complex, which consists of three subunits, NF-YA, NF-YB, and, NF-YC, binds to CCAAT sequences in a promoter to control the expression of target genes. Although NF-Y proteins have been reported in Arabidopsis and rice, a comprehensive and systematic analysis of ZmNF-Y genes has not yet been performed. To examine the functions of ZmNF-Y genes in this family, we isolated and characterized 50 ZmNF-Y (14 ZmNF-YA, 18 ZmNF-YB, and 18 ZmNF-YC) genes in an analysis of the maize genome. The 50 ZmNF-Y genes were distributed on all 10 maize chromosomes, and 12 paralogs were identified. Multiple alignments showed that maize ZmNF-Y family proteins had conserved regions and relatively variable N-terminal or C-terminal domains. The comparative syntenic map illustrated 40 paralogous NF-Y gene pairs among the 10 maize chromosomes. Microarray data showed that the ZmNF-Y genes had tissue-specific expression patterns in various maize developmental stages and in response to biotic and abiotic stresses. The results suggested that ZmNF-YB2, 4, 8, 10, 13, and 16 and ZmNF-YC6, 8, and 15 were induced, while ZmNF-YA1, 3, 4, 6, 7, 10, 12, and 13, ZmNF-YB15, and ZmNF-YC3 and 9 were suppressed by drought stress. ZmNF-YA3, ZmNF-YA8 and ZmNF-YA12 were upregulated after infection by the three pathogens, while ZmNF-YA1 and ZmNF-YB2 were suppressed. These results indicate that the ZmNF-Ys may have significant roles in the response to abiotic and biotic stresses. PMID:27498027

  20. 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 

  1. Use of high-throughput targeted exome sequencing in genetic diagnosis of Chinese family with congenital cataract

    Science.gov (United States)

    Ma, Ming-Fu; Li, Lian-Bing; Pei, Yun-Qi; Cheng, Zhi

    2016-01-01

    AIM To identify disease-causing mutation in a congenital cataract family using enrichment of targeted genes combined with next-generation sequencing. METHODS A total of 371 known genes related to inherited eye diseases of the proband was selected and captured, followed by high-throughput sequencing. The sequencing data were analyzed by established bioinformatics pipeline. Validation was performed by Sanger sequencing. RESULTS A recurrent heterozygous non-synonymous mutation c.130G>A (p.V44M) in the GJA3 gene was identified in the proband. The result was confirmed by Sanger sequencing. The mutation showed co-segregation with the disease phenotype in the family but was not detected in unaffected controls. CONCLUSION Targeted exome sequencing is a rapid, high-throughput and cost-efficient method for screening known genes and could be applied to the routine gene diagnosis of congenital cataract.

  2. 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...

  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. 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.

  5. Evaluation of Essential Oil and its Three Main Active Ingredients of Chinese Chenopodium Ambrosioides (Family: Chenopodiaceae Against Blattella Germanica

    Directory of Open Access Journals (Sweden)

    Wei Xiang Zhu

    2012-12-01

    Full Text Available Background: The efficacy of essential oil of Chenopodium ambrosioides flowering aerial parts and its three mainactive ingredients was evaluated against Blattella germanica male adults.Methods: Composition of essential oil was determined by GC-MS. Topical application bioassay was used to evaluatecontact toxicity of essential oil and three main components. Fumigant toxicity of essential oil and its main components was measured using a sealed space method.Results: Twenty-two components were identified in the essential oil and the main components were (Z-ascaridole(29.7%, isoascaridole (13.0%, ρ-cymene (12.7% and piperitone (5.0%. The essential oil and (Z-ascaridole,isoascaridole and -cymene possessed fumigant toxicity against male German cockroaches with LC50 values of 4.13,0.55, 2.07 and 6.92 mg/L air, respectively. Topical application bioassay showed that all the three compounds weretoxic to male German cockroaches and (Z-ascaridole was the strongest with a LD50 value of 22.02 g/adult while the crude oil with a LD50 value of 67.46 g/adult.Conclusion: The essential oil from Chinese C. ambrosioides and its three main active ingredients may be explored as natural potential insecticides in the control of cockroaches.

  6. 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.

  7. The evaluation of 'the drill of evacuation with family car' conducted in the Ibaraki prefecture comprehensive nuclear disaster exercise 2010

    International Nuclear Information System (INIS)

    Ibaraki prefecture had conducted 'Drill of evacuation for employees working near the nuclear sites with family car', 'Drill of evacuation for the disabled with family car' and 'Drill of evacuation for residents living near the nuclear sites' in the Ibaraki Prefecture Comprehensive Nuclear Disaster Exercise on September 30th, 2010. This work evaluated the dynamic traffic flow of evacuees' cars during the evacuation drills with three kinds of data, i.e. questionnaire for the participants, GPS tracking data of vehicles of evacuees, and photography's shot from the ground. The opinion survey was also conducted to participants of evacuation drill to get the data of choice of measures for evacuation. Consideration based on the survey of these drills revealed important outcomes as follows. The evacuation routes should be chosen more than one per one residential district from the roads including low capacity road to ease traffic congestion and to secure substitute route. Taking into account traffic control and guiding at the intersections on the evacuation routes by policemen and staffs is very important to make the vehicles of evacuees running smoothly. Considering of the capacity and the gate size of the parking of reception center is very important to make the stream of vehicles smooth when Reception centers are chosen. Considering of the effect from experiments of participants is important for the opinion surveys to get the choice of measures of evacuation. The opinion surveys about evacuation from Nuclear disaster should be done in the wide area including the outside of the evacuation zone. (author)

  8. 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.

  9. 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.

  10. Early-onset primary torsional dystonia in a 4-generation Chinese family with a mutation in the DYT1 gene

    Institute of Scientific and Technical Information of China (English)

    YEUNG Wai Lan; LAM Ching Wan; CHENG Wai Tsoi; SIN Ngai Chuen; WONG Wing Kin; WONG Chun Nei; TSE Ka Ming; FOK Tai Fai

    2005-01-01

    @@ Primary torsion dystonia (PTD) is a clinically and genetically heterogeneous movement disorder. At least thirteen different types of dystonia can be distinguished on a genetic basis.1 The DYT1 gene was first mapped by Ozelius et al in 1989.2 Kramer et al3 linked the same locus to PTD in 12 Ashkenazi Jewish families in 1990. Most patients with early-onset generalized PTD were caused by the same three base pair (GAG) deletion in the DYT1 gene on chromosome 9q34.1,4,5 The product of the gene is a protein called torsinA.5 Although the function of this protein is as yet uncertain, it is widely distributed throughout the brain with high levels in the substantia nigra compacta dopamine neurones.

  11. Identification of a Novel β-Globin Mutation (HBB: C.189_195delTCATGGC) in a Chinese Family.

    Science.gov (United States)

    He, Sheng; Lin, Li; Wei, Yuan; Chen, Biyan; Yi, Shang; Chen, Qiuli; Qiu, XiaoXia; Wei, Hongwei; Li, Guojian; Zheng, Chenguang

    2016-08-01

    β-Thalassemia (β-thal) is one of the most common genetic disorders worldwide. Molecular characterization of β-thal is essential for prevention and understanding the biology of the disease. More and more rare and novel mutations are being reported. Here, we report a novel 7 bp deletion at codons 63-65 (HBB: c.189_195delTCATGGC) in exon 2 of the β-globin gene in a family from Guangxi Province, China. This novel mutation causes a shift in the normal reading frame of the β-globin coding sequence and created a stop codon at codon 87 in exon 2, which leads to a β(0)-thal phenotype. PMID:27492766

  12. Ectopic Expression of BraYAB1-702, a Member of YABBY Gene Family in Chinese Cabbage, Causes Leaf Curling, Inhibition of Development of Shoot Apical Meristem and Flowering Stage Delaying in Arabidopsis thaliana

    OpenAIRE

    Lu-Gang Zhang; Jing Zhang; Ze-Ping Yang; Xin-Ling Zhang

    2013-01-01

    YABBY gene family plays an important role in the polarity development of lateral organs. We isolated the BraYAB1-702 gene, a member of the YABBY gene family, from young leaves of Chinese cabbage line 06J45. The full-length gene has a 937 bp CDNA sequence and contains an open reading frame (ORF) of 702 bp. The subcellular localization analysis showed that the expression product of the gene was localized in the nucleus. Ectopic expression of BraYAB1-702 in Arabidopsis thaliana caused leaf curli...

  13. 中国胡琴族乐器的系统类型与原生型特征%System Characteristics and Original Type Features of Chinese Huqin Family Instrument

    Institute of Scientific and Technical Information of China (English)

    王欣

    2015-01-01

    结合不同种类乐器的简要特征,将中国胡琴族乐器划分为板箱型、颈箱型和颈杆型,并介绍其各自相应的持琴、置放、演奏形态。同时,通过对中国胡琴族乐器的细致梳理,总结并提炼出中国胡琴族乐器的两种类型——膜面振动系统和板面振动系统。%Combined with brief characteristics of different types of instruments, Chinese huqin family instruments were divided into three types. This article describes their respective shape of holding, placing, and playing the instruments. Meanwhile, through meticulous combing for the Chinese Huqin family instruments, the writer summarizes and extracts two types of Chinese Huqin instrument of family - membrane surface vibration system and plate surface vibration system.

  14. Kitchen Design Principles of Nuclear Family%核心家庭厨房设计原则

    Institute of Scientific and Technical Information of China (English)

    杨舒英; 林琳; 杨诺

    2015-01-01

    There is closely relationship between residential design and the changes in family structure. Referencing the residential design method of nuclear family, this paper carried out the kitchen design research. By analyzing the family in different periods of life and different requirements of each period, I put forward the kitchen design suggestions in corresponding stages. We try to discuss kitchen design principles in accordance with the nuclear family’s development, so that latter kitchen designers can get some new ideas from this paper.%住宅是与家庭结构变化关系最密切的一类建筑,本文通过借鉴核心家庭住宅设计方法展开厨房设计研究。通过分析家庭不同时期的生活内容,以及每个时期对厨房设计的不同要求,提出厨房各个阶段相应的设计建议,探讨符合核心家庭发展规律的厨房设计原则,为以后厨房的人性化设计提出新思路。

  15. Cross-talk between the NR3B and NR4A families of orphan nuclear receptors

    International Nuclear Information System (INIS)

    Estrogen-related receptors (NR3B family) and Nurr1, NGFI-B, and Nor1 (NR4A family) are orphan nuclear receptors lacking identified natural ligands. The mechanisms regulating their transcriptional activities have remained elusive. We have previously observed that the members of NR3B and NR4A families are coexpressed in certain cell types such as osteoblasts and that the ability of Nurr1 to transactivate the osteopontin promoter is repressed by ERRs. We have now studied the cross-talk between NR3B and NR4A receptors. We show that NR3B and NR4A receptors mutually repress each others' transcriptional activity. The repression involves intact DNA-binding domains and dimerization interfaces but does not result from competition for DNA binding or from heterodimerization. The activation functions of NR3B and NR4A receptors are dispensable for the cross-talk. In conclusion, we report that cross-talk between NR3B and NR4A receptors is a mechanism modulating the transcriptional activities of these orphan nuclear receptors

  16. 基于外部环境变迁的中国家族企业演化博弈研究%Evolutionary Game Research of Chinese Family Business based on the External Environment Change

    Institute of Scientific and Technical Information of China (English)

    谢涛

    2014-01-01

    通过构建家族企业演化博弈理论框架,本文梳理了中国家族企业外部环境流变,分析了聂氏家族、冯氏家族企业的内部博弈和外部博弈。从中国家族企业外部环境变迁中可以看出政权的更迭给家族企业营造了不利的发展环境,家族企业在无干预的社会环境下会发展得更好;通过比较聂氏恒丰和冯氏利丰演化博弈的发展经历,发现未完全演化的家族企业终将走向衰亡,惟有形成新认知模式、完全演化的家族企业才能成功延续。%By constructing an evolutionary game theoretical framework of family business , this article teased out the ex-ternal environment change of Chinese family business , analyzed the internal game and external game of Nie′s, Feng′s family business .The external environment change of Chinese family business showed , regime changes caused adverse en-vironment to the development of family business , it would be better developed without intervention of external social envi -ronment;by comparing the evolutionary game development experience of Nie′s and Feng′s family business , the paper found the family business of incomplete evolution will eventually end , so only realizing complete evolution and forming new cognitive model , can family business successively survive .

  17. Cloning of a cDNA encoding a novel human nuclear phosphoprotein belonging to the WD-40 family

    DEFF Research Database (Denmark)

    Honoré, B; Leffers, H; Madsen, Peder;

    1994-01-01

    sequence contains 9 Trp residues, some of which are localized in repeats and that characterise the protein as a member of the WD-40 family, a group of proteins having 40-aa repeats containing Trp and Asp [Duronio et al., Proteins 13 (1992) 41-56; Van der Voorn and Ploegh, FEBS Lett. 307 (1992) 131......-134]. The protein contains a nuclear targeting signal (KKKGK), and fractionation of transformed human amnion cells (AMA) in karyoplasts and cytoplasts confirmed that it is predominantly localized in the nucleus. Database searching indicated that IEF SSP 9502 is a putative human homologue of the...

  18. Detection of Parent-of-Origin Effects Based on Complete and Incomplete Nuclear Families with Multiple Affected Children

    OpenAIRE

    Zhou, Ji-Yuan; Hu, Yue-Qing; Lin, Shili; Fung, Wing K.

    2008-01-01

    Parent-of-origin effects are important in studying genetic traits. More than 1% of all mammalian genes are believed to show parent-of-origin effects. Some statistical methods may be ineffective or fail to detect linkage or association for a gene with parent-of-origin effects. Based on case-parents trios, the parental-asymmetry test (PAT) is simple and powerful in detecting parent-of-origin effects. However, it is common in practice to collect nuclear families with both parents as well as nucl...

  19. A Single Nucleotide Variant in HNF-1β is associated with Ma¬turity-Onset Diabetes of the Young in a Large Chinese Family

    Directory of Open Access Journals (Sweden)

    Peng ZHOU

    2016-02-01

    Full Text Available Background: Maturity-onset diabetes of the young (MODY is a heterogeneous entity of monogenic disorders characterized by autosomal dominant inheritance. Eleven genes were related, including HNF4α, GCK, HNF1α, IPF1, and HNF-1β, and various mutations are being reported. Methods: To help the overall understanding of MODY-related pathologic mutations, we studied a large MODY family found in 2012, in Shandong, China, which contained 9 patients over 3 generations.DNA was extracted from the periphery blood samples of (i 9 affected members, (ii 17 unaffected members, and (iii 1000 healthy controls. Three pooled samples were obtained by mixing equal quantity ofDNA of each individual within the each group. Totally 400 microsatellite markers across the whole genome were genotyped by capillary electrophoresis. The known MODY-related gene near the identified marker was sequenced to look for putative risk variants.Results: Allelic frequency of marker D17S798 on chromosome 17q11.2 were significantly different (P<0.001 between the affected vs. unaffected members and the affected vs. healthy controls, but not between the unaffected members vs. healthy controls. MODY5-related gene, hepatocyte nuclear factor-1β (HNF-1β on 17q12 near D17S798 became the candidate gene. A single nucleotide variant (SNV of C77T in the non-coding area of exon 1 of HNF-1β was found to be related to MODY5. Conclusion: This novel SNV of HNF-1β contributes to the diabetes development in the family through regulating gene expression most likely. The findings help presymptomatic diagnosis, and imply that mutations in the non-coding areas, as well as in the exons, play roles in the etiology of MODY. Keywords: Maturity-onset diabetes of the young (MODY, Maturity-onset diabetes of the young type 5 (MODY5, Hepatic nuclear factor 1 beta (HNF1β

  20. Infection-triggered familial or recurrent cases of acute necrotizing encephalopathy caused by mutations in a component of the nuclear pore, RANBP2

    DEFF Research Database (Denmark)

    Neilson, Derek E; Adams, Mark D; Orr, Caitlin M D;

    2009-01-01

    susceptibility locus (ANE1) in a family segregating recurrent ANE as an incompletely penetrant, autosomal-dominant trait. We now report that all affected individuals and obligate carriers in this family are heterozygous for a missense mutation (c.1880C-->T, p.Thr585Met) in the gene encoding the nuclear pore...... protein Ran Binding Protein 2 (RANBP2). To determine whether this mutation is the susceptibility allele, we screened controls and other patients with ANE who are unrelated to the index family. Patients from 9 of 15 additional kindreds with familial or recurrent ANE had the identical mutation. It arose de...... novo in two families and independently in several other families. Two other patients with familial ANE had different RANBP2 missense mutations that altered conserved residues. None of the three RANBP2 missense mutations were found in 19 patients with isolated ANE or in unaffected controls. We conclude...

  1. E26 Transformation-Specific-1 (ETS1 and WDFY Family Member 4 (WDFY4 Polymorphisms in Chinese Patients with Rheumatoid Arthritis

    Directory of Open Access Journals (Sweden)

    Yiqun Zhang

    2014-02-01

    Full Text Available E26 transformation-specific-1 (ETS1 and WDFY family member 4 (WDFY4 are closely related with systemic lupus erythematosus. We hypothesized that ETS1 and WDFY4 polymorphisms may contribute to rheumatoid arthritis (RA susceptibility. We studied ETS1 rs1128334 G/A and WDFY4 rs7097397 A/G gene polymorphisms in 329 patients with RA and 697 controls in a Chinese population. Genotyping was done using matrix-assisted laser desorption/ionization time-of-flight mass spectrometry. When the WDFY4 rs7097397 AA homozygote genotype was used as the reference group, the AG genotype was associated with a significantly increased risk for RA. In the dominant model, when the WDFY4 rs7097397 AA homozygote genotype was used as the reference group, the AG/GG genotypes were associated with a significant increased susceptibility to RA. In stratification analyses, a significantly increased risk for RA associated with the WDFY4 rs7097397 AG genotype was evident among female patients, younger patients, C-reactive protein (CRP negative patients and both anti-cyclic citrullinated peptide antibody (ACPA positive patients and negative patients compared with the WDFY4 rs7097397 AA genotype. These findings suggested that WDFY4 rs7097397 A/G may be associated with the risk of RA, especially among younger, female patients, CRP-negative patients and both ACPA positive and negative patients. However, our results were obtained from a moderate-sized sample, and therefore this is a preliminary conclusion. To confirm these findings, validation by a larger study from a more diverse ethnic population is needed.

  2. 两个携带线粒体12S rRNA 1494C>T突变的耳聋家系的遗传学特征%Characterization of two Chinese families with aminoglycoside-induced and nonsyndromic hearing loss both carrying a mitochondrial 12S rRNA 1494C>T mutation

    Institute of Scientific and Technical Information of China (English)

    龚莎莎; 管敏鑫; 陈波蓓; 彭光华; 郑静; 张婷; 郑斌娇; 方芳; 张初琴; 吕建新

    2012-01-01

    Objective To evaluate the effect of mitochondrial DNA(mtDNA) secondary mutations,haplotypes,GJB2 gene mutations on phenotype of 1494C > T mutation,and to study the molecular pathogenic mechanism of maternally transmitted aminoglycoside-induced and nonsyndromic hearing loss.Methods Two Chinese Han pedigrees of maternally transmitted aminoglycoside induced and nonsyndromic hearing loss were collected.The two probands and their family members underwent clinical,genetic and molecular evaluations including audiological examinations and mutational analysis of mitochondrial genome and GJB2 gene.Results Clinical evaluation revealed wide range of severity,age-at-onset and audiometric configuration of hearing impairment in matrilineal relatives in both families,for which the penetrance of hearing loss was respectively 42.9 % and 28.6% when aminoglycoside-induced deafness was included.When the effect of aminoglycosides was excluded,the penetrances of hearing loss were 14.3% and 14.3%.Sequence analysis of mitochondrial genomes identified a known 12S rRNA 1494C>T mutation,in addition with distinct sets of mtDNA polymorphisms belonging to Eastern Asian haplogroups C4a1a and B4b1c,respectively.Conclusion Mitochondrial 12S rRNA 1494C>T mutation probably underlie the deafness in both families.Lack of significant mutation in the GJB2 gene ruled out involvement of GJB2 in the phenotypic expression.However,aminoglycosides and other nuclear modifier genes may still modify the phenotype of the 1494C>T mutation in these families.The B4b1c is a newly identified haplogroup in aminoglycoside-induced and nonsyndromic hearing loss family carrying the 1494C>T mutation.The 1494C>T mutation seems to have occurred sporadically through evolution.

  3. Desafios no estudo de famílias nucleares: etapas iniciais de análise Challengers in nuclear family studies: first steps in data analysis

    Directory of Open Access Journals (Sweden)

    Cláudia Lúcia de Moraes Forjaz

    2011-12-01

    Full Text Available Os estudos em famílias nucleares possibilitam a avaliação da existência de agregação familiar numa dada característica, permitindo avaliar o quanto da variação dessa característica na população pode ser atribuída à variação genética existente entre os sujeitos. Os resultados desses estudos possibilitam a elaboração de estratégias de intervenção mais eficientes e direcionadas, além de serem o ponto de partida para estudos mais complexos de epidemiologia genética, como a identificação de genes responsáveis pela característica em análise. Nas áreas de Ciências do Desporto e Educação Física, alguns estudos têm sido realizados para verificar a existência de agregação familiar e a influência genética em traços relacionados a estados de saúde, atividade e desempenho físicos. Entretanto, esses esforços revelam-se escassos em populações lusófonas e são, praticamente inexistentes, na população brasileira. Dessa forma, o presente artigo teve como propósito abordar, de forma simples e introdutória, aspectos importantes de estudos em famílias nucleares. Para tanto, foram analisadas as duas fases iniciais dos estudos de Epidemiologia Genética, ou seja, a identificação e quantificação da agregação familiar e da heritabilidade. As diferentes etapas de análise foram exemplificadas com dados reais, coletados em famílias nucleares pertencentes a um estudo realizado na cidade de Muzambinho-MG. Espera-se que esse artigo forneça subsídios e estímulo aos pesquisadores iniciantes neste tipo de investigação.Studies with nuclear families allow the identification of familiar aggregation, as well as the estimation of how much of the variability in a characteristic might be attributed to genetic differences among subjects. Results from these studies are starting points for more complex genetic research, including the identification and relevance of candidate genes. In Sport Science, studies have analyzed the

  4. 中文版家庭管理测量量表的信效度研究%Validity and reliability of the Chinese version of Family Management Measure

    Institute of Scientific and Technical Information of China (English)

    张莹; 魏珉

    2009-01-01

    Objective To assess the psychometric properties of the Chinese version of Family Man-agement Measure (FaMM). Methods FaMM was translated into Chinese and distributed to 330 caregivers whose children had chronic diseases to fill the questionnaire. Results Cronhach's alpha coefficient for the subscales ranged from 0.52 to 0.86, indicating acceptable internal consistency. The content validity index was 0.84. Construct validity was supported by significant correlation between FaMM and FAD and CBCL,Pearson correlation coefficient ranged from 0.11 to 0.38. The relationship among them accorded with the expected trends of Family Management Style Framework. The result of factor analysis indicated 9 factors explaining 60.08% variance. Conclusions The psychometric property of the Chinese version of FaMM was acceptable and it could be regarded as a reliable and valid instrument to measure the family response of Chinese families whose children had chronic diseases.%目的 检验中文版家庭管理测量量表(family management measure,FaMM)的信度和效度.方法 对330例慢性病患儿的家长进行调查,检验其信度和效度.结果 中文版FaMM各分量表的Cronbach'α系数为0.52~0.86.内容效度CVI为0.84.分量表与中文版FAD和CBCL的关系符合理论框架的假定趋势,Pearson相关系数为0.11~0.38.因子分析得到9个公因子,共解释60.08%的方差.结论 中文版管理测量量表具有良好的信度和效度,可用于我国慢性病患儿家庭反应研究.

  5. Nuclear pore complex contains a family of glycoproteins that includes p62: glycosylation through a previously unidentified cellular pathway

    International Nuclear Information System (INIS)

    Using a monoclonal antibody (mAb 414), the authors previously identified a protein of 62 kDa (p62) that was localized to the nuclear pore complex by immunoelectron microscopy. They also showed that p62 binds specifically to wheat germ agglutinin. Therefore, they proposed that this nuclear pore complex protein might be a member of a recently characterized family of glycoproteins that are labeled by in vitro galactosylation of rat liver nuclei and contain O-linked monosaccharidic GlcNAc residues. In support of this, they now show that incubation with N-acetylglucosaminidase reduces the molecular mass of p62 by ≅ 3 kDa because of the removal of terminal GlcNAc residues. Moreover, p62 can be galactosylated in vitro by using UDP-[3H]galactose and galactosyltransferase. They also show that most of the GlcNAc residues are added within 5 min of synthesis, when p62 is soluble and cytosolic. Thus, the addition of GlcNAc is carried out in the cytoplasm and is clearly distinct from the N- and O-linked glycosylation pathways of the endoplasmic reticulum and Golgi complex. Using another mAb with a broad specificity for nuclear GlcNAc-containing proteins, they show by immunofluorescence and protein blotting of subnuclear fractions that some of these proteins are in the interior of the nucleus, and others are most likely located in the pore complex

  6. Nuclear factor I revealed as family of promoter binding transcription activators

    Directory of Open Access Journals (Sweden)

    Plasari Genta

    2011-04-01

    Full Text Available Abstract Background Multiplex experimental assays coupled to computational predictions are being increasingly employed for the simultaneous analysis of many specimens at the genome scale, which quickly generates very large amounts of data. However, inferring valuable biological information from the comparisons of very large genomic datasets still represents an enormous challenge. Results As a study model, we chose the NFI/CTF family of mammalian transcription factors and we compared the results obtained from a genome-wide study of its binding sites with chromatin structure assays, gene expression microarray data, and in silico binding site predictions. We found that NFI/CTF family members preferentially bind their DNA target sites when they are located around transcription start sites when compared to control datasets generated from the random subsampling of the complete set of NFI binding sites. NFI proteins preferably associate with the upstream regions of genes that are highly expressed and that are enriched in active chromatin modifications such as H3K4me3 and H3K36me3. We postulate that this is a causal association and that NFI proteins mainly act as activators of transcription. This was documented for one member of the family (NFI-C, which revealed as a more potent gene activator than repressor in global gene expression analysis. Interestingly, we also discovered the association of NFI with the tri-methylation of lysine 9 of histone H3, a chromatin marker previously associated with the protection against silencing of telomeric genes by NFI. Conclusion Taken together, we illustrate approaches that can be taken to analyze large genomic data, and provide evidence that NFI family members may act in conjunction with specific chromatin modifications to activate gene expression.

  7. Combining Disease Models to Test for Gene-Environment Interaction in Nuclear Families

    OpenAIRE

    Hoffmann, Thomas J.; Vansteelandt, Stijn; Lange, Christoph; Silverman, Edwin K.; DeMeo, Dawn L; Laird, Nan M

    2011-01-01

    It is useful to have robust gene-environment interaction tests that can utilize a variety of family structures in an efficient way. This paper focuses on tests for gene-environment interaction in the presence of main genetic and environmental effects. The objective is to develop powerful tests that can combine trio data with parental genotypes and discordant sibships when parents genotypes are missing. We first make a modest improvement on a method for discordant sibs (discordant on phenotype...

  8. The role of WWOX polymorphisms on COPD susceptibility and pulmonary function traits in Chinese: a case-control study and family-based analysis

    Science.gov (United States)

    Xie, Chenli; Chen, Xiaoliang; Qiu, Fuman; Zhang, Lisha; Wu, Di; Chen, Jiansong; Yang, Lei; Lu, Jiachun

    2016-01-01

    Single nucleotide polymorphisms (SNPs) in the WW domain containing oxidoreductase (WWOX) gene were recently identified to be quantitative trait loci for lung function and thus likely to be susceptible biomarkers for COPD. However, the associations between WWOX SNPs and COPD risk are still unclear. Here, by conducting a two-center case-control study including 1511 COPD cases and 1677 controls and a family-based analysis comprising 95 nuclear pedigrees, we tested the associations between five SNPs that are rs10220974C >T, rs3764340C >G, rs12918952G >A, rs383362G >T, rs12828G >A of WWOX and COPD risk as well as the hereditary inclination of these loci among COPD families. We found that the SNP rs383362G >T was significantly associated with an increased risk of COPD in a T allele-number dependent-manner (OR = 1.30, 95%CI = 1.11 - 1.52). The T allele was more prone to over transmit to sick children and sibs than the G allele (Z = 2.900, P = 0.004). Moreover, the forced expiratory volume in one second/forced vital capacity (FEV1/FVC), FEV1/predicted-FEV1 and annual FEV1 also significantly decreased in the rs383362T carriers compared to the rs383362GG carriers. For other SNPs, no significant association was observed for COPD and pulmonary function. Taken together, our data demonstrated that the SNP rs383362G >T of WWOX plays a role in COPD inheritance. PMID:26902998

  9. Reconstruction of Family-Level Phylogenetic Relationships within Demospongiae (Porifera) Using Nuclear Encoded Housekeeping Genes

    OpenAIRE

    Hill, Malcolm S.; April L Hill; Jose Lopez; Peterson, Kevin J.; Shirley Pomponi; Maria C Diaz; Thacker, Robert W; Maja Adamska; Nicole Boury-Esnault; Paco Cárdenas; Andia Chaves-Fonnegra; Elizabeth Danka; Bre-Onna De Laine; Dawn Formica; Eduardo Hajdu

    2013-01-01

    BACKGROUND: Demosponges are challenging for phylogenetic systematics because of their plastic and relatively simple morphologies and many deep divergences between major clades. To improve understanding of the phylogenetic relationships within Demospongiae, we sequenced and analyzed seven nuclear housekeeping genes involved in a variety of cellular functions from a diverse group of sponges. METHODOLOGY/PRINCIPAL FINDINGS: We generated data from each of the four sponge classes (i.e., Calcarea, ...

  10. Study of nuclear interactions by observing family and air showers at Mt. Chacaltaya

    International Nuclear Information System (INIS)

    It was operated an air shower array and an emulsion chamber simultaneously at Mt. Chacaltaya (5200 m, Bolivia), in order to study high energy nuclear interactions, induced by cosmic rays. It was showed that high energy electromagnetic component and hadronic component in the air shower are not described by the simulations, indicating that the energy spectrum of produced particles in multiple particle production is suppressed strongly in the forward region

  11. Families of Nuclear Receptors in Vertebrate Models: Characteristic and Comparative Toxicological Perspective

    OpenAIRE

    Zhao, Yanbin; Zhang, Kun; Giesy, John P; Hu, Jianying

    2015-01-01

    Various synthetic chemicals are ligands for nuclear receptors (NRs) and can cause adverse effects in vertebrates mediated by NRs. While several model vertebrates, such as mouse, chicken, western clawed frog and zebrafish, are widely used in toxicity testing, few NRs have been well described for most of these classes. In this report, NRs in genomes of 12 vertebrates are characterized via bioinformatics approaches. Although numbers of NRs varied among species, with 40–42 genes in birds to 66–74...

  12. Development of inter-family nuclear transplant embryos by transplanting the nuclei from the loach blastulae into the non-enucleated zebrafish eggs

    Science.gov (United States)

    Li, Li; Zhang, Shicui; Yuan, Jinduo; Li, Hongyan

    2003-03-01

    The developmental fate of the pronuclei in recombined embryos obtained by transplanting the donor nuclei into the non-enucleated eggs remains controversial in the case of fish. In the present study, the nuclei from the loach blastulae were transplanted into non-enucleated zebrafish eggs, the resulting 9 inter-family nuclear transplant embryos developed to larval stages. Although the development timing of the nuclear transplants resembled that of zebrafish, chromosome examination revealed that most of the recombined embryos were diploids with karyotype characteristic of loach, which was also proved by RAPD analysis. Moreover, 3 out of the 9 larval fish formed barb rudiments specific to loach. It was therefore concluded that the nuclear transplant larval fish were inter-family nucleo-cytoplasmic hybrids; and that only the donor nuclei were involved in the development of the nuclear transplant embryos, while the pronuclei in the non-enucleated eggs were likely automatically eliminated during the development.

  13. Nuclear industry family study: methods and description of a United Kingdom study linking occupational information held by employers to reproduction and child health

    OpenAIRE

    Maconochie, N.; Doyle, P; Roman, E.; Davies, G.; Smith, P.G.; Beral, V

    1999-01-01

    OBJECTION: To describe the methods used in the nuclear industry family study for which a comprehensive database has been assembled that links employment in the nuclear industry and dosimetry records to information on employees' reproductive health and the health of their children. To discuss the response rates and characteristics of the study population. METHODS: Occupational cohort design leading to a retrospective cohort study of reproductive outcomes reported by 46 396 current and fo...

  14. Characteristics of Traditional Chinese Family Education and Its Inspiration to Contemporary Education%中国传统家训的特点及其对当代教育的启示

    Institute of Scientific and Technical Information of China (English)

    钱琼

    2012-01-01

    中国的传统家庭教育是中华文化与文明的重要组成部分。传统的家训基本可以分为帝王家训、名人家训和女性家训三种。尽管在不同的历史时期各类家训的内容有一些区别和不同的侧重,但是总的目的都是为了引导子女能够学会做人做事,并强调首先要具备“德”和“序”。%Traditional Chinese family education is the important part of culture and civilization. The traditional family motto can be divided into three kinds of imperial family motto, celebrity family motto and women family motto. Though in different historical periods, the contents and emphasis have some differences, the overall purpose is to teach children to learn how to behave well. And the stress is that we must first have "moral" and "order".

  15. Diversification, evolution and methylation of short interspersed nuclear element families in sugar beet and related Amaranthaceae species.

    Science.gov (United States)

    Schwichtenberg, Katrin; Wenke, Torsten; Zakrzewski, Falk; Seibt, Kathrin M; Minoche, André; Dohm, Juliane C; Weisshaar, Bernd; Himmelbauer, Heinz; Schmidt, Thomas

    2016-01-01

    Short interspersed nuclear elements (SINEs) are non-autonomous non-long terminal repeat retrotransposons which are widely distributed in eukaryotic organisms. While SINEs have been intensively studied in animals, only limited information is available about plant SINEs. We analysed 22 SINE families from seven genomes of the Amaranthaceae family and identified 34 806 SINEs, including 19 549 full-length copies. With the focus on sugar beet (Beta vulgaris), we performed a comparative analysis of the diversity, genomic and chromosomal organization and the methylation of SINEs to provide a detailed insight into the evolution and age of Amaranthaceae SINEs. The lengths of consensus sequences of SINEs range from 113 nucleotides (nt) up to 224 nt. The SINEs show dispersed distribution on all chromosomes but were found with higher incidence in subterminal euchromatic chromosome regions. The methylation of SINEs is increased compared with their flanking regions, and the strongest effect is visible for cytosines in the CHH context, indicating an involvement of asymmetric methylation in the silencing of SINEs. PMID:26676716

  16. Nuclear Magnetic Resonance skull in Cuban families first diagnosed with Friedreich's ataxia

    International Nuclear Information System (INIS)

    Friedreich's ataxia is characterized by age of onset before 25 years, progressive ataxia, dysarthria, absent deep tendon reflexes and impaired vibration sense. This research was conducted in order to describe the imaging features of central nervous system structures in the early Cuban families diagnosed with the disease. A team of 0.23 Tesla-PANORAMA-Phylips Medical Systems, with a standard head coil, axial slices were obtained using 5mm thick FLAIR sequences, T1 and T2, and sagittal T1 and T2 in three individuals with confirmatory molecular diagnosis of Friedreich's ataxia and six healthy controls matched by age and sex. The morphological structures most affected are the cervical spinal cord, cerebellum and pons, which provides in vivo evidence that the disease leads to atrophy of these structures

  17. Myth of the Perfect Family

    Science.gov (United States)

    ... together fulfill the multiple responsibilities of family life. MYTH: The "Nuclear Family" Is A Universal Phenomenon The ... members and in progressive fragmentation of the family. MYTH: Family Harmony Is The Rule, Not The Exception ...

  18. A family-based study of the association between the G72/G30 genes and schizophrenia in the Chinese population

    Institute of Scientific and Technical Information of China (English)

    FanggengZou; ChaoLi; ShiweiDuan; YonglanZheng; NiufanGu; GuoyinFeng; YanglingXing; JianguoShi; LinHe

    2005-01-01

    Studies have shown a strong positive association between schizophrenia and G72/G30, demonstrated by both individual markers and haplotypes. A further functional study also supports the role of G72 in the etiology of schizophrenia. In this study,we have replicated these results of transmission/disequilibrium testing (TDT) and haplotype analysis in the Han Chinese population, showing P values of 0.0018 and 0.00007 for individual markers and haplotypes, respectively. Hence, our datasupports the hypothesis that G72/G30 are important candidate genes for explaining schizophrenia in the Han Chinese population.

  19. Families of Nuclear Receptors in Vertebrate Models: Characteristic and Comparative Toxicological Perspective

    Science.gov (United States)

    Zhao, Yanbin; Zhang, Kun; Giesy, John P.; Hu, Jianying

    2015-02-01

    Various synthetic chemicals are ligands for nuclear receptors (NRs) and can cause adverse effects in vertebrates mediated by NRs. While several model vertebrates, such as mouse, chicken, western clawed frog and zebrafish, are widely used in toxicity testing, few NRs have been well described for most of these classes. In this report, NRs in genomes of 12 vertebrates are characterized via bioinformatics approaches. Although numbers of NRs varied among species, with 40-42 genes in birds to 66-74 genes in teleost fishes, all NRs had clear homologs in human and could be categorized into seven subfamilies defined as NR0B-NR6A. Phylogenetic analysis revealed conservative evolutionary relationships for most NRs, which were consistent with traditional morphology-based systematics, except for some exceptions in Dolphin (Tursiops truncatus). Evolution of PXR and CAR exhibited unexpected multiple patterns and the existence of CAR possibly being traced back to ancient lobe-finned fishes and tetrapods (Sarcopterygii). Compared to the more conservative DBD of NRs, sequences of LBD were less conserved: Sequences of THRs, RARs and RXRs were >=90% similar to those of the human, ERs, AR, GR, ERRs and PPARs were more variable with similarities of 60%-100% and PXR, CAR, DAX1 and SHP were least conserved among species.

  20. Families of nuclear receptors in vertebrate models: characteristic and comparative toxicological perspective.

    Science.gov (United States)

    Zhao, Yanbin; Zhang, Kun; Giesy, John P; Hu, Jianying

    2015-01-01

    Various synthetic chemicals are ligands for nuclear receptors (NRs) and can cause adverse effects in vertebrates mediated by NRs. While several model vertebrates, such as mouse, chicken, western clawed frog and zebrafish, are widely used in toxicity testing, few NRs have been well described for most of these classes. In this report, NRs in genomes of 12 vertebrates are characterized via bioinformatics approaches. Although numbers of NRs varied among species, with 40-42 genes in birds to 66-74 genes in teleost fishes, all NRs had clear homologs in human and could be categorized into seven subfamilies defined as NR0B-NR6A. Phylogenetic analysis revealed conservative evolutionary relationships for most NRs, which were consistent with traditional morphology-based systematics, except for some exceptions in Dolphin (Tursiops truncatus). Evolution of PXR and CAR exhibited unexpected multiple patterns and the existence of CAR possibly being traced back to ancient lobe-finned fishes and tetrapods (Sarcopterygii). Compared to the more conservative DBD of NRs, sequences of LBD were less conserved: Sequences of THRs, RARs and RXRs were ≥90% similar to those of the human, ERs, AR, GR, ERRs and PPARs were more variable with similarities of 60%-100% and PXR, CAR, DAX1 and SHP were least conserved among species. PMID:25711679

  1. Infection-Triggered Familial or Recurrent Cases of Acute Necrotizing Encephalopathy Caused by Mutations in a Component of the Nuclear Pore, RANBP2

    Science.gov (United States)

    Neilson, Derek E.; Adams, Mark D.; Orr, Caitlin M.D.; Schelling, Deborah K.; Eiben, Robert M.; Kerr, Douglas S.; Anderson, Jane; Bassuk, Alexander G.; Bye, Ann M.; Childs, Anne-Marie; Clarke, Antonia; Crow, Yanick J.; Di Rocco, Maja; Dohna-Schwake, Christian; Dueckers, Gregor; Fasano, Alfonso E.; Gika, Artemis D.; Gionnis, Dimitris; Gorman, Mark P.; Grattan-Smith, Padraic J.; Hackenberg, Annette; Kuster, Alice; Lentschig, Markus G.; Lopez-Laso, Eduardo; Marco, Elysa J.; Mastroyianni, Sotiria; Perrier, Julie; Schmitt-Mechelke, Thomas; Servidei, Serenella; Skardoutsou, Angeliki; Uldall, Peter; van der Knaap, Marjo S.; Goglin, Karrie C.; Tefft, David L.; Aubin, Cristin; de Jager, Philip; Hafler, David; Warman, Matthew L.

    2009-01-01

    Acute necrotizing encephalopathy (ANE) is a rapidly progressive encephalopathy that can occur in otherwise healthy children after common viral infections such as influenza and parainfluenza. Most ANE is sporadic and nonrecurrent (isolated ANE). However, we identified a 7 Mb interval containing a susceptibility locus (ANE1) in a family segregating recurrent ANE as an incompletely penetrant, autosomal-dominant trait. We now report that all affected individuals and obligate carriers in this family are heterozygous for a missense mutation (c.1880C→T, p.Thr585Met) in the gene encoding the nuclear pore protein Ran Binding Protein 2 (RANBP2). To determine whether this mutation is the susceptibility allele, we screened controls and other patients with ANE who are unrelated to the index family. Patients from 9 of 15 additional kindreds with familial or recurrent ANE had the identical mutation. It arose de novo in two families and independently in several other families. Two other patients with familial ANE had different RANBP2 missense mutations that altered conserved residues. None of the three RANBP2 missense mutations were found in 19 patients with isolated ANE or in unaffected controls. We conclude that missense mutations in RANBP2 are susceptibility alleles for familial and recurrent cases of ANE. PMID:19118815

  2. 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

  3. A Person-Centered Approach to Studying the Linkages among Parent-Child Differences in Cultural Orientation, Supportive Parenting, and Adolescent Depressive Symptoms in Chinese American Families

    Science.gov (United States)

    Weaver, Scott R.; Kim, Su Yeong

    2008-01-01

    This longitudinal study examined whether supportive parenting mediates relations between parent-child differences in cultural orientation (generational dissonance) and depressive symptoms with a sample of 451 first and second generation Chinese American parents and adolescents (12-15 years old at time 1). Using a person-centered approach,…

  4. Selected compilation of clinical cases for over exposure workers of the Chinese nuclear industry in the past 30 years

    International Nuclear Information System (INIS)

    This report is a professional reference book on clinical medical management of overexposed individuals. It collects the medical records of the cases accumulated in the past 30 years in nuclear industry including patients with internal contamination of radionuclide, with overexposed intake of natural uranium, with radiation skin injury and overdose external exposure. The report describes the clinical practical experience in prevention and treatment of internal contamination radiation injury, radiation skin injury, as well as radiation effect of overdose external exposure in the nuclear industry

  5. Genetic and environmental influences on blood pressure and physical activity: a study of nuclear families from Muzambinho, Brazil

    Energy Technology Data Exchange (ETDEWEB)

    Forjaz, C.L.M.; Bartholomeu, T. [Laboratório de Hemodinâmica da Atividade Motora (LAHAM), Escola de Educação Física e Esporte, Universidade de São Paulo, São Paulo, SP (Brazil); Rezende, J.A.S. [Escola Superior de Educação Física de Muzambinho, Muzambinho, MG (Brazil); Oliveira, J.A.; Basso, L.; Tani, G. [Laboratório de Comportamento Motor (LACOM), Escola de Educação Física e Esporte, Universidade de São Paulo, São Paulo, SP (Brazil); Prista, A. [Faculdade de Educação Física e Desporto, Universidade Pedagógica, Maputo (Mozambique); Maia, J.A.R. [CIFI2D, Laboratório de Cineantropometria e Gabinete de Estatística Aplicada, Faculdade de Desporto, Universidade do Porto, Porto (Portugal)

    2012-09-07

    Blood pressure (BP) and physical activity (PA) levels are inversely associated. Since genetic factors account for the observed variation in each of these traits, it is possible that part of their association may be related to common genetic and/or environmental influences. Thus, this study was designed to estimate the genetic and environmental correlations of BP and PA phenotypes in nuclear families from Muzambinho, Brazil. Families including 236 offspring (6 to 24 years) and their 82 fathers and 122 mothers (24 to 65 years) were evaluated. BP was measured, and total PA (TPA) was assessed by an interview (commuting, occupational, leisure time, and school time PA). Quantitative genetic modeling was used to estimate maximal heritability (h{sup 2}), and genetic and environmental correlations. Heritability was significant for all phenotypes (systolic BP: h{sup 2} = 0.37 ± 0.10, P < 0.05; diastolic BP: h{sup 2} = 0.39 ± 0.09, P < 0.05; TPA: h{sup 2} = 0.24 ± 0.09, P < 0.05). Significant genetic (r{sub g}) and environmental (r{sub e}) correlations were detected between systolic and diastolic BP (r{sub g} = 0.67 ± 0.12 and r{sub e} = 0.48 ± 0.08, P < 0.05). Genetic correlations between BP and TPA were not significant, while a tendency to an environmental cross-trait correlation was found between diastolic BP and TPA (r{sub e} = -0.18 ± 0.09, P = 0.057). In conclusion, BP and PA are under genetic influences. Systolic and diastolic BP share common genes and environmental influences. Diastolic BP and TPA are probably under similar environmental influences.

  6. Genetic and environmental influences on blood pressure and physical activity: a study of nuclear families from Muzambinho, Brazil

    Directory of Open Access Journals (Sweden)

    C.L.M. Forjaz

    2012-12-01

    Full Text Available Blood pressure (BP and physical activity (PA levels are inversely associated. Since genetic factors account for the observed variation in each of these traits, it is possible that part of their association may be related to common genetic and/or environmental influences. Thus, this study was designed to estimate the genetic and environmental correlations of BP and PA phenotypes in nuclear families from Muzambinho, Brazil. Families including 236 offspring (6 to 24 years and their 82 fathers and 122 mothers (24 to 65 years were evaluated. BP was measured, and total PA (TPA was assessed by an interview (commuting, occupational, leisure time, and school time PA. Quantitative genetic modeling was used to estimate maximal heritability (h², and genetic and environmental correlations. Heritability was significant for all phenotypes (systolic BP: h² = 0.37 ± 0.10, P < 0.05; diastolic BP: h² = 0.39 ± 0.09, P < 0.05; TPA: h² = 0.24 ± 0.09, P < 0.05. Significant genetic (r g and environmental (r e correlations were detected between systolic and diastolic BP (r g = 0.67 ± 0.12 and r e = 0.48 ± 0.08, P < 0.05. Genetic correlations between BP and TPA were not significant, while a tendency to an environmental cross-trait correlation was found between diastolic BP and TPA (r e = -0.18 ± 0.09, P = 0.057. In conclusion, BP and PA are under genetic influences. Systolic and diastolic BP share common genes and environmental influences. Diastolic BP and TPA are probably under similar environmental influences.

  7. Genetic and environmental influences on blood pressure and physical activity: a study of nuclear families from Muzambinho, Brazil.

    Science.gov (United States)

    Forjaz, C L M; Bartholomeu, T; Rezende, J A S; Oliveira, J A; Basso, L; Tani, G; Prista, A; Maia, J A R

    2012-12-01

    Blood pressure (BP) and physical activity (PA) levels are inversely associated. Since genetic factors account for the observed variation in each of these traits, it is possible that part of their association may be related to common genetic and/or environmental influences. Thus, this study was designed to estimate the genetic and environmental correlations of BP and PA phenotypes in nuclear families from Muzambinho, Brazil. Families including 236 offspring (6 to 24 years) and their 82 fathers and 122 mothers (24 to 65 years) were evaluated. BP was measured, and total PA (TPA) was assessed by an interview (commuting, occupational, leisure time, and school time PA). Quantitative genetic modeling was used to estimate maximal heritability (h²), and genetic and environmental correlations. Heritability was significant for all phenotypes (systolic BP: h² = 0.37 ± 0.10, P < 0.05; diastolic BP: h² = 0.39 ± 0.09, P < 0.05; TPA: h² = 0.24 ± 0.09, P < 0.05). Significant genetic (r g) and environmental (r e) correlations were detected between systolic and diastolic BP (r g = 0.67 ± 0.12 and r e = 0.48 ± 0.08, P < 0.05). Genetic correlations between BP and TPA were not significant, while a tendency to an environmental cross-trait correlation was found between diastolic BP and TPA (r e = -0.18 ± 0.09, P = 0.057). In conclusion, BP and PA are under genetic influences. Systolic and diastolic BP share common genes and environmental influences. Diastolic BP and TPA are probably under similar environmental influences. PMID:22948378

  8. Genetic and environmental influences on blood pressure and physical activity: a study of nuclear families from Muzambinho, Brazil

    International Nuclear Information System (INIS)

    Blood pressure (BP) and physical activity (PA) levels are inversely associated. Since genetic factors account for the observed variation in each of these traits, it is possible that part of their association may be related to common genetic and/or environmental influences. Thus, this study was designed to estimate the genetic and environmental correlations of BP and PA phenotypes in nuclear families from Muzambinho, Brazil. Families including 236 offspring (6 to 24 years) and their 82 fathers and 122 mothers (24 to 65 years) were evaluated. BP was measured, and total PA (TPA) was assessed by an interview (commuting, occupational, leisure time, and school time PA). Quantitative genetic modeling was used to estimate maximal heritability (h2), and genetic and environmental correlations. Heritability was significant for all phenotypes (systolic BP: h2 = 0.37 ± 0.10, P < 0.05; diastolic BP: h2 = 0.39 ± 0.09, P < 0.05; TPA: h2 = 0.24 ± 0.09, P < 0.05). Significant genetic (rg) and environmental (re) correlations were detected between systolic and diastolic BP (rg = 0.67 ± 0.12 and re = 0.48 ± 0.08, P < 0.05). Genetic correlations between BP and TPA were not significant, while a tendency to an environmental cross-trait correlation was found between diastolic BP and TPA (re = -0.18 ± 0.09, P = 0.057). In conclusion, BP and PA are under genetic influences. Systolic and diastolic BP share common genes and environmental influences. Diastolic BP and TPA are probably under similar environmental influences

  9. The Study on Inheritance Model of Chinese Family Business in Growth stage%关于我国成长期家族企业传承模式的探讨

    Institute of Scientific and Technical Information of China (English)

    尤春智

    2015-01-01

    This paper is based on the related theories of corporate life cycles and discusses the inheritance model of Chinese family business which is in growth stage. By analyzing the mechanism of family business in growth stage, this paper puts forward that family business in growth stage should choose the inheritance model that “succeeding to father's chairmanship”is in main position and recruiting the good professional managers to grasp the management in a secondary position. The combination of “succeeding to father's chairmanship” and recruiting the good professional managers is the most reasonable choice for family business in growth stage. This model can help family business in growth stage transition to maturity and realize the sustainable development of family business.%以企业生命周期相关理论为基础,针对成长期家族企业的传承模式进行研究。通过对家族企业成长期的阶段性特征分析,提出成长期家族企业应当选择以“子承父业”为主、初步引入职业经理人经营管理的传承模式。“子承父业”和初步引入职业经理人有机结合,可以被看作成长期家族企业传承模式比较合理的选择,可以帮助成长期家族企业成功过渡到成熟期,实现家族企业的可持续发展。

  10. Family Structure and Social Influence.

    Science.gov (United States)

    Olson, Dawn R.

    Regardless of family form, there is a universal belief that one's family is the most powerful agent of socialization. A sample of 38 junior high school students from single parent and nuclear families completed a questionnaire in order to examine the relative effects of peer influence and family influence in single parent and nuclear families.…

  11. 中文版家庭功能评定量表的信度效度初步研究%Preliminary Study on reliability and validity of the Chinese Version of the Family Assessment Device

    Institute of Scientific and Technical Information of China (English)

    王雪云; 李业平

    2016-01-01

    Objective To research the reliability and validity of Family Assessment Device(FAD)in the Chinese college students. Methods A sample of 312 Chinese college students were employed to finish the Chinese version of FAD. The Cronbach's alpha coefficient and split-half reliability were used to test the reliability of the scale. The content validity, construct validation and discriminant validity were used to test the validity of the scale. Result The Cronbach's alpha coefficient of the Chinese version of FAD was 0.860, the split-half reliability was 0.810 and the reliability of behavior control dimension was lower than other dimension. There were significant differences among the various dimension, there were significant differences between high and low groups. Conclusion The Family Assessment Device has high reliability, good content validity and construct validity.%目的:研究家庭功能评定量表(FAD)在中国大学生家庭中的信度和效度.方法:用中文版家庭功能评定量表对312位在校大学生进行施测,采用Cronbach's系数、分半信度对量表的信度进行检测,用内容效度、结构效度、区分效度对量表的效度进行检测.结果:中文版家庭功能评定量表的Cronbach's系数为0.860,分半信度为0.810,行为控制这一维度的信度偏低.各维度间的相关均有统计学意义,高分组与低分组间存在显著差异.结论:家庭功能评定量表具有较高的信度,较好的内容效度和结构效度.

  12. Families and family therapy in Hong Kong.

    Science.gov (United States)

    Tse, Samson; Ng, Roger M K; Tonsing, Kareen N; Ran, Maosheng

    2012-04-01

    Family therapy views humans not as separate entities, but as embedded in a network of relationships, highlighting the reciprocal influences of one's behaviours on one another. This article gives an overview of family demographics and the implementation of family therapy in Hong Kong. We start with a review of the family demographics in Hong Kong and brief notes on families in mainland China. Demographics show that the landscape has changed markedly in the past decade, with more cross-border marriages, an increased divorce rate, and an ageing overall population - all of which could mean that there is increasing demand for professional family therapy interventions. However, only a limited number of professionals are practising the systems-based approach in Hong Kong. Some possible reasons as to why family therapy is not well disseminated and practised are discussed. These reasons include a lack of mental health policy to support family therapy, a lack of systematic family therapy training, and a shortage of skilled professionals. Furthermore, challenges in applying the western model in Chinese culture are also outlined. We conclude that more future research is warranted to investigate how family therapy can be adapted for Chinese families. PMID:22515459

  13. Do nuclear-encoded core subunits of mitochondrial complex I confer genetic susceptibility to schizophrenia in Han Chinese populations?

    OpenAIRE

    Xiao Li; Wen Zhang; Jinsong Tang; Liwen Tan; Xiong-jian Luo; Xiaogang Chen; Yong-Gang Yao

    2015-01-01

    Schizophrenia is one of the most prevalent psychiatric disorders with complex genetic etiology. Accumulating evidence suggests that energy metabolism and oxidative stress play important roles in the pathophysiology of schizophrenia. Dysfunction of mitochondrial respiratory chain and altered expression of complex I subunits were frequently reported in schizophrenia. To investigate whether nuclear-encoded core subunit genes of mitochondrial complex I are associated with schizophrenia, we perfor...

  14. Common Variants of Hepatocyte Nuclear Factor 1β Are Associated With Type 2 Diabetes in a Chinese Population

    OpenAIRE

    Wang, Congrong; Hu, Cheng; ZHANG, RONG; Bao, Yuqian; Ma, Xiaojing; Lu, Jingyi; Qin, Wen; Shao, Xinyu; Lu, Junxi; Xu, Jing; Lu, Huijuan; Xiang, Kunsan; Jia, Weiping

    2009-01-01

    OBJECTIVE Hepatocyte nuclear factor 1β (HNF1β) is a transcription factor that is critical for pancreatic cell formation and glucose homeostasis. Previous studies have reported that common variants of HNF1β were associated with type 2 diabetes in Caucasians and West Africans. However, analysis in the subjects from the Botnia study and Malmö Preventive Project produced conflicting results, and the role for HNF1β in type 2 diabetes susceptibility remains unclear. We therefore investigated common...

  15. A Person-centered Approach to Studying the Linkages among Parent–Child Differences in Cultural Orientation, Supportive Parenting, and Adolescent Depressive Symptoms in Chinese American Families

    OpenAIRE

    Weaver, Scott R.; Kim, Su Yeong

    2008-01-01

    This longitudinal study examined whether supportive parenting mediates relations between parent– child differences in cultural orientation (generational dissonance) and depressive symptoms with a sample of 451 first and second generation Chinese American parents and adolescents (12–15 years old at time 1). Using a person-centered approach, meaningful typologies of cultural orientation were derived for fathers, mothers, and adolescents. Overall, results provided support, though qualified, for ...

  16. 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

  17. Genome-Wide Identification and Analysis of the VQ Motif-Containing Protein Family in Chinese Cabbage (Brassica rapa L. ssp. Pekinensis

    Directory of Open Access Journals (Sweden)

    Gaoyuan Zhang

    2015-12-01

    Full Text Available 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.

  18. 同居共财:传统中国的家庭、财产与法律%Cohabitation Common Wealth:Traditional Chinese Family, Property and Law

    Institute of Scientific and Technical Information of China (English)

    张剑源

    2015-01-01

    In the traditional Chinese society, Common Wealth is a consistent uphold of the life and organization, which has two charac-teristics:one is“cohabitation”, the other is“common wealth”. The traditional Chinese family law system is based on the ethical standard, which is basically adapted to the two principles of“cohabitation”and“common wealth”, it reflects the adaptation of law and society in the sense of traditional Chinese.%在传统中国社会较长的发展时期,家庭成员一直秉持着“同居共财”的生活和组织方式。其有两个特征:一是“同居”,家庭成员并不都是一个个完全独立的个体,其只是家庭中一个个伦理意义上的成员,人们无不生活在“关系”和“亲疏”之中;二是“共财”,财产属于家庭成员共有,由父亲代为管理,财产主要依靠“分家”“继承”等方式在家庭内部流动。传统中国的家庭法律制度以伦理本位为基础,基本上适应了此两项原则,体现了传统中国意义上法律与社会之间的适配性。

  19. 基于ISM的中国核电产业自主化发展影响因素分析%Analysis on the Influencing Factors of the Independent Development of Chinese Nuclear Power Industry Based on ISM

    Institute of Scientific and Technical Information of China (English)

    邹长城

    2011-01-01

    针对核电产业的特点,应用ISM方法建立系统结构模型,对影响中国核电产业自主化发展的主要因素进行分析,探讨中国核电产业自主化发展必须解决的关键问题.%This paper treats the independent development of nuclear power industry of China as a big compIex system,which consists of interactive factors with specific functions. According to Porter's theory of international competitiveness of industry and the characteristics of nuclear power industry, a struqural model based on ISM is build to systematically analyze the main factors influencing the independent development of nuclear power industry and explore key problems to be solved in the independent development of Chinese nuclear power industry.

  20. Bulimia nervosa in the Chinese.

    Science.gov (United States)

    Schmidt, U

    1993-12-01

    Typical DSM-III-R bulimia nervosa with self-induced vomiting was found in 2 women of Hong Kong Chinese origin and a Chinese man from Malaysia. All 3 cases had a family history of obesity. In 2 of the cases a period of weight gain and in the third case frank obesity preceded the onset of the eating disorder. Cultural transition seemed to play an important part in the onset and maintenance of the eating disorder. PMID:8293034

  1. Generational transtormation of Chinese families:A survey of the Republic period%中国家庭的代际更替方式——以民国时期为例

    Institute of Scientific and Technical Information of China (English)

    郑全红

    2009-01-01

    Family division is the way of reproduction of Chinese families and the starting point of building new families.Reasons of family division in the Republic Of China include bad terms among sisters-in-law,among brothers.between father and sons,between mother-in-1aw and daughters-in-law,or working outside.There are three pattems of family division:one-time thorough division,serial division,and special types of division.The circumstances of family division include:inheritance while parents are alive or after their death;equal inheritance among brothers hosted by their uncle(toother's brother), inheritance rights attributed to the eldest son or grandson,and special principles of property distribution.The rite of family division is quite solemn;documents of family division definitely need to be made with specific regulations.There are three ways of supporting for the eldly,among which leaving some land to parents is popularly adopted in rural China during the Republic period.%分家是中国家庭的代际更替方式,是新家庭成立的起点.民国时期分家产生的原因在于妯娌不和、兄弟不和、亲子不和、婆媳不和及外出工作等.分家的模式可分为一次性彻底分家、系列分家及特殊类型的分家等三种类型.分家的原则有:生分或者死后继承均可、平均继承、舅舅主持、长子长孙继承权及一些财产分配的特殊原则等.分家仪式十分隆重,分家文书必须要有,且有规定的条款.分家过程中对老人的赡养通常有三种方式,其中保留养老地是民国农村普遍采用的赡养老人的方式.

  2. Employee Motivation Research Based on the Psychological Contract in Chinese Small and Medium -sized Family Firm%基于心理契约的中国中小家族企业员工激励研究

    Institute of Scientific and Technical Information of China (English)

    郝冬梅; 冯书娟

    2012-01-01

    This article, through analyzing concretely the achievements and existing problems of employee motivation and the impact factors in Chinese small and medium - sized family firms, by using psychological contract theory, conies up with an . employee motivation mechanism model based on the psychological contract, and states the specific incentives in detail.%通过对中小家族企业员工激励的现状和存在的问题及对问题产生的影响因素的具体分析,借助心理契约理论,提出基于心理契约的员工激励模型,并详细陈述激励措施.

  3. Online Chinese Patent Family Retrieval Based on Open Patent Service%基于开放专利服务在线检索中国同族专利

    Institute of Scientific and Technical Information of China (English)

    胡书明

    2012-01-01

    Based on the free online EPO' s Open Patent Service(OPS) ,the paper uses three key service include Family Service, Le- gal Service and Published - data Service to retrieve patent information from EPO. The paper first retrieved all INPADOC extended patent family members of one patent number and categorized them based on Faimily ID, then picked out all Chinese patents and retrieved the bibliography data and legal status history of the Chinese patents,lastly displayed all information in one webpage. Addtionally,the information in the webpage could be cross - validated with some link - out official patent websites, and some value - added service would be found in the websites.%建立流程应用免费在线开放专利服务(OPS)中的Family专利族服务、Legal法律状态服务、Published—data著录项服务,获得指定专利文献国际专利文献中心(INPADOC)扩展专利族所有成员并按简单专利族编号归类,筛选出所有中国专利成员,最终在同一页面显示中国专利文献著录项信息及法律状态变化历史,并保持专利数据信息与欧洲专利局(EPO)官方网站同步更新。另外,使用链接构造功能将专利信息链接至权威官方专利网站,从而实现专利信息的交叉验证以及相应的增值服务。

  4. Orphan Nuclear Receptor NR4A1 Binds a Novel Protein Interaction Site on Anti-apoptotic B Cell Lymphoma Gene 2 Family Proteins.

    Science.gov (United States)

    Godoi, Paulo H C; Wilkie-Grantham, Rachel P; Hishiki, Asami; Sano, Renata; Matsuzawa, Yasuko; Yanagi, Hiroko; Munte, Claudia E; Chen, Ya; Yao, Yong; Marassi, Francesca M; Kalbitzer, Hans R; Matsuzawa, Shu-Ichi; Reed, John C

    2016-07-01

    B cell lymphoma gene 2 (Bcl-2) family proteins are key regulators of programmed cell death and important targets for drug discovery. Pro-apoptotic and anti-apoptotic Bcl-2 family proteins reciprocally modulate their activities in large part through protein interactions involving a motif known as BH3 (Bcl-2 homology 3). Nur77 is an orphan member of the nuclear receptor family that lacks a BH3 domain but nevertheless binds certain anti-apoptotic Bcl-2 family proteins (Bcl-2, Bfl-1, and Bcl-B), modulating their effects on apoptosis and autophagy. We used a combination of NMR spectroscopy-based methods, mutagenesis, and functional studies to define the interaction site of a Nur77 peptide on anti-apoptotic Bcl-2 family proteins and reveal a novel interaction surface. Nur77 binds adjacent to the BH3 peptide-binding crevice, suggesting the possibility of cross-talk between these discrete binding sites. Mutagenesis of residues lining the identified interaction site on Bcl-B negated the interaction with Nur77 protein in cells and prevented Nur77-mediated modulation of apoptosis and autophagy. The findings establish a new protein interaction site with the potential to modulate the apoptosis and autophagy mechanisms governed by Bcl-2 family proteins. PMID:27129202

  5. Actually existing Chinese matriarchy

    OpenAIRE

    Stafford, Charles

    2008-01-01

    The essays in this volume present contemporary anthropological perspectives on Chinese kinship, its historical complexity and its modern metamorphoses. The collection draws particular attention to the reverberations of larger socio-cultural and politico-economic processes in the formation of sociality, intimate relations, family histories, reproductive strategies and gender relations – and vice-versa. Drawing on a wealth of ethnographic material from the late imperial period and from cont...

  6. Gene Expression Analyses during Spontaneous Reversal of Cardiomyopathy in Mice with Repressed Nuclear CUG-BP, Elav-Like Family (CELF) Activity in Heart Muscle

    OpenAIRE

    Dasgupta, Twishasri; Coram, Ryan J.; Stillwagon, Samantha J.; Ladd, Andrea N

    2015-01-01

    CUG-BP, Elav-like family (CELF) proteins regulate cell type- and developmental stage-specific alternative splicing in the heart. Repression of CELF-mediated splicing activity via expression of a nuclear dominant negative CELF protein in heart muscle was previously shown to induce dysregulation of alternative splicing, cardiac dysfunction, cardiac hypertrophy, and dilated cardiomyopathy in MHC-CELFΔ transgenic mice. A “mild” line of MHC-CELFΔ mice that expresses a lower level of the dominant n...

  7. [The analysis of mitochondrial DNA haplogroups and variants for Leber's hereditary optic neuropathy in Chinese families carrying the m.14484T >C mutation].

    Science.gov (United States)

    Meng, Xiangjuan; Zhu, Jinping; Gao, Min; Zhang, Sai; Zhao, Fuxin; Zhang, Juanjuan; Liu, Xiaoling; Wei, Qiping; Tong, Yi; Zhang, Minglian; Qu, Jia; Guan, Minxin

    2014-04-01

    The m.14484T>C mutation in mitochondrial ND6 gene (MT-ND6) is a primary mutation underlying the development of Leber's hereditary optic neuropathy (LHON) , but by itself not enough to cause visual loss. To explore the role of mitochondrial haplogroups on the expression of LHON for the people carrying the m.14484T>C mutation, we performed systematic and extended mutational screening of MT-ND6 gene in a cohort of 1177 Han Chinese patients with LHON. A total of 67 affected subjects carried the homoplasmic m.14484T>C mutation, accounting for 5.7% of this LHON population. The penetrances of optic neuropathy among 51 pedigrees carrying the m.14484T>C mutation ranged from 5.6% to 100.0%, with the average of 21.5%. The sequence analysis of entire mitochondrial genomes of 51 probands exhibited distinct sets of polymorphisms belonging to 18 Eastern Asian haplogroups. The frequencies of haplogroup A and haplogroup F were sig-nificantly less in the LHON mtDNA samples than those in 106 Chinese controls. On the other hand, the haplogroup M10a accounted for 9.8% of the patient's mtDNA samples but was absent in 106 Chinese controls. Strikingly, the average pene-trance (46.13%) of optic neuropathy for the pedigrees carrying mitochondrial haplogroup M10a was higher than those car-rying other mtDNA haplogroups. These observations indicated that mitochondrial haplogroup M10a may increase the risk of visual loss. PMID:24846978

  8. Pure γ-families

    International Nuclear Information System (INIS)

    The subject of this work are pure gamma families consisting of the gamma quanta produced in the early stages of cosmic cascades. The criteria of selecting these families from the all measured families are presented. The characteristics of these families are given and some conclusions about the mechanism of the nuclear-electromagnetic cascades are extracted. (S.B.)

  9. Projected dose commitment from fallout contamination in milk resulting from the 1976 Chinese atmospheric nuclear weapons test

    International Nuclear Information System (INIS)

    Of the fission products produced by the 1976 detonation of nuclear devices in China, the levels of 131I found in milk collected in FDA Regions I and III early in October were all in Range III of the FRC intake guides. The levels of 140Ba-La, 137Cs and 90Sr were all in within Range I of the guides. As determined by successive sampling, the clearance half-times for 131I, 140Ba-La and 137Cs from milk were between 5 and 9 days. The levels of 131I in milk of Regions I and III did not fall below Range III until early November. The maximum dose commitment to the infant thyroid due to 131I would have been less than 30% of the annual limit of 0.5 rem recommended by the FRC guides. The dose commitment to the teenage thyroid would have been about 4% of the FRC limit. (author)

  10. Angiotensinogen gene-inducible enhancer-binding protein 1, a member of a new family of large nuclear proteins that recognize nuclear factor kappa B-binding sites through a zinc finger motif.

    OpenAIRE

    Ron, D; Brasier, A R; Habener, J F

    1991-01-01

    Transcriptional activation of the rat angiotensinogen gene during the acute-phase response is dependent on a previously characterized acute-phase response element (APRE) that binds at least two types of nuclear proteins: a cytokine-inducible activity indistinguishable from nuclear factor kappa-B (NF kappa B) and a family of C/EBP-like proteins. We screened a rat liver cDNA expression library with a labeled APRE DNA probe and isolated a single clone that encodes a sequence-specific APRE-bindin...

  11. Mutations in the coding regions of the hepatocyte nuclear factor 4 alpha in Iranian families with maturity onset diabetes of the young

    Directory of Open Access Journals (Sweden)

    Tavakolafshari Jalil

    2009-12-01

    Full Text Available Abstract Hepatocyte nuclear factor 4α (HNF4α is a nuclear receptor involved in glucose homeostasis and is required for normal β cell function. Mutations in the HNF4α gene are associated with maturity onset diabetes of the young type 1 (MODY1. The aim of the present study was to determine the prevalence and nature of mutations in HNF4α gene in Iranian patients with a clinical diagnosis of MODY and their family members. Twelve families including 30 patients with clinically MODY diagnosis and 21 members of their family were examined using PCR-RFLP method and in case of mutation confirmed by sequencing techniques. Fifty age and sex matched subjects with normal fasting blood sugar (FBS and Glucose tolerance test (GTT were constituted the control group and investigated in the similar pattern. Single mutation of V255M in the HNF4α gene was detected. This known mutation was found in 8 of 30 patients and 3 of 21 individuals in relatives. Fifty healthy control subjects did not show any mutation. Here, it is indicated that the prevalence of HNF4α mutation among Iranian patients with clinical MODY is considerable. This mutation was present in 26.6% of our patients, but nothing was found in control group. In the family members, 3 subjects with the age of ≤25 years old carried this mutation. Therefore, holding this mutation in this range of age could be a predisposing factor for developing diabetes in future.

  12. Mitochondrial and nuclear genes suggest that stony corals are monophyletic but most families of stony corals are not (Order Scleractinia, Class Anthozoa, Phylum Cnidaria.

    Directory of Open Access Journals (Sweden)

    Hironobu Fukami

    Full Text Available Modern hard corals (Class Hexacorallia; Order Scleractinia are widely studied because of their fundamental role in reef building and their superb fossil record extending back to the Triassic. Nevertheless, interpretations of their evolutionary relationships have been in flux for over a decade. Recent analyses undermine the legitimacy of traditional suborders, families and genera, and suggest that a non-skeletal sister clade (Order Corallimorpharia might be imbedded within the stony corals. However, these studies either sampled a relatively limited array of taxa or assembled trees from heterogeneous data sets. Here we provide a more comprehensive analysis of Scleractinia (127 species, 75 genera, 17 families and various outgroups, based on two mitochondrial genes (cytochrome oxidase I, cytochrome b, with analyses of nuclear genes (ss-tubulin, ribosomal DNA of a subset of taxa to test unexpected relationships. Eleven of 16 families were found to be polyphyletic. Strikingly, over one third of all families as conventionally defined contain representatives from the highly divergent "robust" and "complex" clades. However, the recent suggestion that corallimorpharians are true corals that have lost their skeletons was not upheld. Relationships were supported not only by mitochondrial and nuclear genes, but also often by morphological characters which had been ignored or never noted previously. The concordance of molecular characters and more carefully examined morphological characters suggests a future of greater taxonomic stability, as well as the potential to trace the evolutionary history of this ecologically important group using fossils.

  13. 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.

  14. Association of protein Z and factor VII gene polymorphisms with risk of cerebral hemorrhage: a case–control and a family-based association study in a Chinese Han pulation

    Indian Academy of Sciences (India)

    YI ZENG; LE ZHANG; ZHIPING HU; QIDONG YANG; MINGMING MA; BAOQIONG LIU; JIAN XIA; HONGWEI XU; YUNHA I LIU; XIAOPING DU

    2016-06-01

    Protein Z (PZ) and factor (F) VII are two important factors in the clotting pathway which have similar structure, linkedfunction and nearby gene sites. The aims of this study were to investigate whether the common variants of PZ and FVII genesare associated with the risk of cerebral hemorrhage (CH) and to explore the combined effects of PZ and FVII polymorphismsfor CH risk. We performed genotyping analysis for two single-nucleotide polymorphisms (SNPs) of FVII (rs510317 andrs6046) and three SNPs of PZ (rs2273971, rs3024718 and rs3024731) both in a population-based case–control study andin a family-based association study. Case–control analysis found no evidence of significant association. But family-basedassociation study revealed that the G allele of PZ rs2273971, and three haplotypes carrying the ‘G’ allele of PZ rs2273971:haplotype GA, CG and CGA of PZ and FVII genes, all had a significant effect on CH susceptibility (Z =1.882,P =0.049;Z =1.922,P =0.044; Z =1.826,P =0.047; Z =1.977,P =0.048, respectively). While, the A allele of PZ rs2273971, andfour haplotypes carrying or crossing the ‘A’ allele of PZ rs2273971: haplotypes CA, ACAA, ACAT and ACAAT of PZ andFVII genes, may confer protection against CH (Z =−1.882,P =0.049; Z =−2.000,P =0.045; Z =−2.319,P =0.020;Z =−2.002,P =0.045; Z =−2.015,P =0.043, respectively). This is a first family-based association study providing geneticevidences that PZ and FVII genes, especially PZ rs2273971 are involved in the development of CH in Han-Chinese families.

  15. The Adaptability and Contingent of Rural Nuclear Family%农村核心家庭的现代适应与权变

    Institute of Scientific and Technical Information of China (English)

    王欣

    2016-01-01

    As the emotional unit of individual, family holds its own adaptable way in modern life.In the different phases of family lifecycle, the rural nuclear family shapes flexible structure and generational in-teraction to adapt diverse situation.All in all, it centers around nuclear family with invertible parent-child relation and embraces extended family to build a family community.That is not only constructed by marketization, the state administrative power and traditional culture, but also a lasting home-oriented community as it respects individual right and weighs the different requirements of individuals.%家庭作为个体的归属单位在现代生活中有其自身的适应逻辑. 农村核心家庭在生命周期的各个阶段中,都呈现出灵动的家庭结构与代际互动模式以应对不同的境况,形成以第三代为中心联动母家庭的新的共同体形态. 这种以倒置的亲子关系为主轴辐射大家庭的共同体实践,是市场化、国家行政力量和传统文化多重机制重塑的结果,更是尊重个体权利、权衡不同成员需求的家本位思想的现代延续.

  16. Development of Inter-Family Nuclear Transplant Embryos by Transplanting the Nuclei from the Loach Blastulae into the Non-Enucleated Zebrafish Eggs

    Institute of Scientific and Technical Information of China (English)

    李荔; 张士璀; 袁金铎; 李红岩

    2003-01-01

    The developmental fate of the pronuclei in recombined embryos obtained by transpla-nting the donor nuclei into the non-enucleated eggs remains controversial in the case of fish. In thepresent study, the nuclei from the loach blastulae were transplanted into non-enucleated zebrafisheggs, the resulting 9 inter-family nuclear transplant embryos developed to larval stages. Althoughthe development timing of the nuclear transplants resembled that of zebrafish, chromosome examina-tion revealed that most of the recombined embryos were diploids with karyotype characteristic of loa-ch, which was also proved by RAPD analysis. Moreover, 3 out of the 9 larval fish formed barb ru-diments specific to loach. It was therefore concluded that the nuclear transplant larval fish were in-ter-family nucleo-cytoplasmic hybrids; and that only the donor nuclei were involved in the develop-ment of the nuclear transplant embryos, while the pronuclei in the non-enucleated eggs were likelyautomatically eliminated during the development.

  17. 全外显子组测序发现一个中国Nance-Horan综合征家系NHS基因的新突变%Identification of a novel mutation in a Chinese family with Nance-Horan syndrome by whole exome sequencing

    Institute of Scientific and Technical Information of China (English)

    Nan HONG; Ming QI; Yang-shun GU; Yan-hua CHEN; Chen XIE; Bai-sheng XU; Hui HUANG; Xin LI; Yue-qing YANG; Ying-ping HUANG; Jian-lian DENG

    2014-01-01

    Objective:Nance-Horan syndrome (NHS) is a rare X-linked disorder characterized by congenital nuclear cataracts, dental anomalies, and craniofacial dysmorphisms. Mental retardation was present in about 30% of the reported cases. The purpose of this study was to investigate the genetic and clinical features of NHS in a Chinese family. Methods:Whole exome sequencing analysis was performed on DNA from an affected male to scan for can-didate mutations on the X-chromosome. Sanger sequencing was used to verify these candidate mutations in the whole family. Clinical and ophthalmological examinations were performed on al members of the family. Results:A combi-nation of exome sequencing and Sanger sequencing revealed a nonsense mutation c.322G>T (E108X) in exon 1 of NHS gene, co-segregating with the disease in the family. The nonsense mutation led to the conversion of glutamic acid to a stop codon (E108X), resulting in truncation of the NHS protein. Multiple sequence alignments showed that codon 108, where the mutation (c.322G>T) occurred, was located within a phylogenetically conserved region. The clinical features in all affected males and female carriers are described in detail. Conclusions:We report a nonsense mutation c.322G>T (E108X) in a Chinese family with NHS. Our findings broaden the spectrum of NHS mutations and provide molecular insight into future NHS clinical genetic diagnosis.%研究目的:通过对一个中国Nance-Horan综合征家系的临床表型及基因突变分析,揭示本家系的致病遗传机制。研究方法:对该Nance-Horan综合征家系的一个男性患者进行全外显子组测序,结合此家系临床表型及遗传方式分析,选定X染色体上NHS基因上的一个无义突变c.322G>T(E108X)为可疑致病突变。通过聚合酶链式反应(PCR)和Sanger测序,对该家系内其他成员进行NHS基因突变分析,同时对50名健康对照者的NHS基因的突变检测结果进行对比。另

  18. Chinese immigrants’ parental experiences in Norway

    OpenAIRE

    Zhu, Hong

    2015-01-01

    European Master in Social Work with Families and Children Existing empirical studies of parents in China found that this population presents features of authoritarian parenting style: greater parental demands and control together with lower parental responsiveness. However, when the investigation conducted on Chinese immigrants, parental practice is characterized as more authoritative style, combining high levels of controlling and responsiveness. Paradoxical findings between Chinese paren...

  19. 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

  20. Chinese Cooking.

    Science.gov (United States)

    Kane, Tony

    This unit, intended for secondary level students, is a general introduction to Chinese cooking. It is meant to inform students about the origins of Chinese cooking styles in their various regional manifestations, and it can be used to discuss how and why different cultures develop different styles of cooking. The first part of the unit, adapted…

  1. Social support and antenatal depression in extended and nuclear family environments in Turkey: a cross-sectional survey

    OpenAIRE

    Berksun Oguz; Abas Melanie; Senturk Vesile; Stewart Robert

    2011-01-01

    Abstract Background Social support is strongly implicated in the aetiology of perinatal mental disorder: particularly the quality of the marital and family environment. Family structures are important under-researched potential modifiers. Turkey offers particular advantages for research in this area because of long-standing coexistence of Western and Middle Eastern family structures. We aimed to investigate associations between the quality of key relationships and depression in women in their...

  2. A taxonomic re-assessment in the Chinese Bupleurum (Apiaceae):Insights from morphology, nuclear ribosomal internal transcribed spacer, and chloroplast (trnH-psbA, matK) sequences

    Institute of Scientific and Technical Information of China (English)

    Chang-Bao WANG; Xiang-GuangMA; Xing-Jin HE

    2011-01-01

    As one of the big genera in Apiaceae,Bupleurum L.has received considerable attention from plant taxonomists.Nevertheless,there are still many gaps in our knowledge of this genus,especially of those species endemic to China that have often been excluded from previous studies.In spite of a few recent studies on the phylogeny and classification of the Chinese Bupleurum,the most essential problem of species delimitation still remains unresolved.We re-evaluate the taxonomy of the Chinese Bupleurum using morphological and molecular evidence.Careful observations of living plants growing the field and herbarium specimens were made to understand the morphological variation and to ensure species identification for the molecular analysis.Phylogenetic analyses were carried out on sequence data of nuclear ribosomal intemal transcribed spacer (nrlTS),trnH-psbA,and matK,using parsimony and Bayesian approaches to evaluate species relationships.Analyses of both nrlTS and combined datasets of the three regions revealed the following results:(i) the Chinese Bupleurum species were divided into two major lineages; and (ii) most species were well defined,but some traditional inter- and infraspecific relationships were not supported.Our results,along with the results of previous works support that the Chinese Bupleurum species were derived from two different lineages and should be placed in Neves and Watson’s subgenus Bupleurum.Our detailed taxonomic re-assessment of several Chinese species resulted in new taxonomic recombinations with rank changes for three species:Bupleurum tenerum,B.amplexicaule,and B.franchetii; new combination for one variety,B.smithii var.flaviflorum; and the description of one variety and one species,B.stenophyllum vat.leiocarpum and B.sikangense.

  3. Nuclear

    International Nuclear Information System (INIS)

    This document proposes a presentation and discussion of the main notions, issues, principles, or characteristics related to nuclear energy: radioactivity (presence in the environment, explanation, measurement, periods and activities, low doses, applications), fuel cycle (front end, mining and ore concentration, refining and conversion, fuel fabrication, in the reactor, back end with reprocessing and recycling, transport), the future of the thorium-based fuel cycle (motivations, benefits and drawbacks), nuclear reactors (principles of fission reactors, reactor types, PWR reactors, BWR, heavy-water reactor, high temperature reactor of HTR, future reactors), nuclear wastes (classification, packaging and storage, legal aspects, vitrification, choice of a deep storage option, quantities and costs, foreign practices), radioactive releases of nuclear installations (main released radio-elements, radioactive releases by nuclear reactors and by La Hague plant, gaseous and liquid effluents, impact of releases, regulation), the OSPAR Convention, management and safety of nuclear activities (from control to quality insurance, to quality management and to sustainable development), national safety bodies (mission, means, organisation and activities of ASN, IRSN, HCTISN), international bodies, nuclear and medicine (applications of radioactivity, medical imagery, radiotherapy, doses in nuclear medicine, implementation, the accident in Epinal), nuclear and R and D (past R and D programmes and expenses, main actors in France and present funding, main R and D axis, international cooperation)

  4. 脊髓小脑性共济失调一家系的遗传学研究%Genetics of a Chinese family with spinocerebellar ataxia

    Institute of Scientific and Technical Information of China (English)

    刘丹; 郭洪; 王凯; 白云

    2011-01-01

    Objective To do genetic diagnosis of an autosomal dominant spinocerebellar ataxia family and discuss its clinical characteristics. Methods Familial investigation and pedigree analysis were per formed. The duplicate number of tri-nucleotides in pathogenic CAG was detected by polymerase chain reaction (PCR) and direct DNA sequencing in the family members. Results Autosomal dominant heredity was found in this family. Clinical symptoms such as gait, dysphagia and slurred speech occurred in three spinocerebellar ataxia patients of the family at the age of over 30 years. Genetic diagnosis of spinocerebellar ataxia showed that the CAG duplicate number of SCA2 and SCA3 was normal in all the family members of spinocerebellar ataxia patients, and abnormal allelic gene SCA1 was detected in 3 spinocerebellar ataxia patients. The CAG was amplified 43, 48, and 51 times, respectively, and amplified 53 and 50 times for another 2 members of the family who were diagnosed as presymptomatic SCA1. Conclusion Type 1 spinocerebellar ataxia can be diagnosed in the family members of spinocerebellar ataxia patients according to their autosomal dominant heredity caused by dynamic mutations. Genetic diagnosis can be established in 2 presymptomatic SCA1 patients of the family.%目的 对一个常染色体显性遗传的脊髓小脑共济失调家系(spinocerebellar ataxias,SCA)进行基因诊断并探讨其临床特点.方法 完成家系调查和系谱分析,通过聚合酶链式反应和直接测序的方法 对收集到的家系成员进行脊髓小脑性共济失调致病基因CAG三核苷酸重复数目的 检测.结果 该家系呈常染色体显性遗传模式,家系中3名患者均于30岁后逐渐表现为行走不稳、饮水呛咳、言语不清等共济失调的临床特征.对所有家系成员进行基因诊断,结果 发现,SCA2和SCA3致病基因的CAG重复数目均在正常范围内;而家系中3名患者SCA1致病基因出现异常等位基因,CAG扩增次数分别为43、48

  5. Families and health interactions

    OpenAIRE

    Zdanowicz, Nicolas; Lepièce, Brice; Tordeurs, David; Jacques, Denis; Janne, Pascal; Reynaert, Christine

    2011-01-01

    Background: In recent years, psychologists of health have attempted to understand the relations between family dynamics and health. The aim of our study is not only to study relations inside families and couples (relations between family of origin, nuclear and ideal family, current and ideal couple) but also outside between families and couples and different health indicator (physical and mental health, consumption of medications, and frequency of medical consultations). Subjects and methods:...

  6. Correlates of Living Alone among Single Elderly Chinese Immigrants in Canada

    Science.gov (United States)

    Lai, Daniel W. L.; Leonenko, Wendy L.

    2007-01-01

    According to traditional Chinese culture, families will care for their elderly. Therefore, it appears to be uncommon for elderly Chinese to live alone. This study examines the correlates for single elderly Chinese immigrants in Canada to live alone. Using a probability sample of single elderly Chinese immigrants (N = 660) in seven urban centers,…

  7. 7个中国Leber遗传性视神经病变家系线粒体DNA突变分析%The analysis of mitochondrial DNA mutation in seven Chinese families with Leber's hereditary optic neuropathy

    Institute of Scientific and Technical Information of China (English)

    米慧; 林蓓; 朱金萍; 孟祥娟; 刘晓玲; 赵福新; 张娟娟; 周翔天; 孙艳红

    2013-01-01

    目的 观察7个中国Leber遗传性视神经病变(LHON)家系的分子遗传学特征.方法 对7个家系先证者及其母系成员和134例正常健康者进行临床眼科检查.除7个先证者外,还确诊2例LHON患者.用24对有部分重叠的引物对受检者线粒体DNA全序列进行扩增,双向测序,结果与修正的剑桥参照序列进行比对,分析突变位点.计算突变位点的外显率,分析家系的单体型.结果 7个家系先证者及其母系成员均未携带ND4 G11778A、ND1 G3460A和ND6 T14484C这3个常见的原发突变位点,但均携有与LHON相关的ND1 T3394C突变位点.134位正常健康者中仅发现4例携带此突变位点.7个家系的ND1 T3394C外显率分别为12.50%、22.22%、16.67%、6.25%、9.09%、11.11%、28.57%.根据本亚线粒体单体型系统进化树分析结果,7个家系分别属于东亚线粒体单体型M9、M9、M、D4、M、M9、M9.结论 中国LHON家系中存在ND1 T3394C突变位点,该突变位点的外显率为6.25%~28.57%,表现度不一.%Objective To observe the molecular genetic characteristics of seven Chinese families with Leber's hereditary optic neuropathy (LHON).Methods Ophthalmologic examinations were performed on seven probands,maternal members from seven Chinese families and 134 healthy controls.There were two LHON patients in seven Chinese families except probands.The entire mitochondrial genome was amplified using 24 pairs of oligonucleotide primers with overlapping fragments.The mutational site was analyzed through comparison of the results and Cambridge reference sequence.The penetrance of mutation site was calculated and the haplotype was analyzed.Results Molecular analysis of mitochondrial DNA (mtDNA) in these pedigrees revealed the absence of three common LHON associated with ND4 G11778A,ND1 G3460A and ND6 T14484C mutations.The ND1 T3394C mutation in probands and other matrilineal relatives was present in four out of 134 Chinese healthy controls

  8. Chinese astronomy

    OpenAIRE

    Macfarlane, Alan; Cullen, Christopher

    2004-01-01

    Standing in the observatory in Beijing, Christopher Cullen discusses the nature and sophistication of Chinese astronomy in the medieval period. The political as well as the intellectual interest in astronomy is outlined.

  9. Chinese Confucianism

    OpenAIRE

    Macfarlane, Alan; Cullen, Christopher

    2004-01-01

    Confucianism has deeply influenced Chinese civilization. Christopher Cullen describes its effect on education, social structure and knowledge over the past centuries, against the backdrop of a Confucian building in Beijing.

  10. Ancient Chinese Bronzes: Teacher's Packet.

    Science.gov (United States)

    Smithsonian Institution, Washington, DC. Arthur M. Sackler Gallery.

    The focus of this teacher's packet is the bronze vessels made for the kings and great families of the early Chinese dynasties between 1700 B.C. and 200 A.D. The materials in the guide are intended for use by teachers and students visiting the exhibition, "The Arts of China," at the Arthur M. Sackler Gallery of the Smithsonian Institution in…

  11. 7例携带线粒体tRNAAla C5601T突变的Leber遗传性视神经病变家系的相关研究%The analysis of Leber's hereditary optic neuropathy associated with mitochondrial tRNAAla C5601T mutation in seven Han Chinese families

    Institute of Scientific and Technical Information of China (English)

    周晖晖; 韦企平; 瞿佳; 管敏鑫; 戴显宁; 林蓓; 米慧; 刘晓玲; 赵福新; 张娟娟; 周翔天; 孙艳红

    2012-01-01

    We reported here the clinical, genetic, and molecular characterization of Leber's hereditary optic neuropathy (LHON) with C5601T mutation in seven Chinese families. The ophthalmologic examinations of seven Chinese families who were clinically diagnosed LHON were conducted. Strikingly, these families exhibited very low penetrance of visual impairment, and the penetrance was 9.5%, 14.3%, 4.5%, 8.3%, 10.0%, 22.2% and 25.0%. Meanwhile, entire mitochondrial genome of seven probands was amplified by PCR using 24 pairs of oligonucleotide primers with overlapping fragments. Molecular analysis of mitochondrial DNA (mtDNA) in these pedigrees revealed the absence of three common LHON associated G11778A, G3460A and T14484C mutations but the presence of ho-moplastic LHON associated tRNA1a C5601T mutation in probands and other matrilineal relatives. These mtDNA polymorphism sites belongs to the Asian haplogroups G2, G2al, G2al, G2, G2b, G2al and G2. By analyzing mitochondrial genome, seven LHON families all carry the C5601T mutation. The C5601T mutation occurs at the highly conserved nucleotide (conventional position 59) of tRNAAla, thereby contributing to the structural formation and stabilization of functional tRNAs and leading to mitochondrial dysfunction involved in visual impairment. The incomplete penetrance of visual loss in these seven Chinese pedigrees strongly indicates that the tRNAA1a C5601T mutation was itself insufficient to produce a clinical phenotype. The lack of functional mtDNA variants in these pedigrees ruled out the role of mitochondrial background in the phenotypic expression of visual loss. Therefore, nuclear backgrounds and environmental factors seem to be modifying factors for the phenotypic manifestation of the tRNA C5601T mutation in the seven Chinese families%文章收集了7例携带线粒体tRNAAla C5601T突变的中国Leber遗传性视神经病(Leber's hereditary optic neuropathy,LHON)的家系,通过眼科检查和遗传学分析,发现7个家

  12. Novel homozygous deletion of segmental KAL1 and entire STS cause Kallmann syndrome and X-linked ichthyosis in a Chinese family.

    Science.gov (United States)

    Xu, H; Li, Z; Wang, T; Wang, S; Liu, J; Wang, D W

    2015-12-01

    Kallmann syndrome (KS) is a genetically heterogeneous disease characterised by hypogonadotrophic hypogonadism in association with anosmia or hyposmia. This condition affects 1 in 10 000 men and 1 in 50,000 women. Defects in seventeen genes including KAL1 gene contribute to the molecular basis of KS. We report the clinical characteristics, molecular causes and treatment outcome of two Chinese brothers with KS and X-linked ichthyosis. The phenotypes of the patients were characterised by bilateral cryptorchidism, unilateral renal agenesis in one patient but normal kidney development in another. The patients had low serum testosterone, follicle-stimulating hormone and luteinising hormone levels and a blunt response to the gonadotrophin-releasing hormone stimulation test. After human chorionic gonadotrophin treatment, the serum testosterone levels were normalized, and the pubic hair, penis length and testicular volumes were greatly improved in both of the patients. The two affected siblings had the same novel deletion at Xp22.3 including exons 9-14 of KAL1 gene and entire STS gene. Our study broadens the mutation spectrum in the KAL1 gene associated with KS and facilitates the genetic diagnosis and counselling for KS. PMID:25597551

  13. 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.

  14. The effect of Chinese herbal medicine"heche assisted pregnancy recipe"on endometrial estrogen and progesterone receptor, proliferating cell nuclear antigen and vascular endothelial growth factor in the patients with infertility

    Institute of Scientific and Technical Information of China (English)

    刘效群; 阚国英; 彭玉梅; 樊瑞琴; 齐惠敏; 焦妹芬; 李忠; 石彬; 尹桂然; 董锡月

    2003-01-01

    Objectives:To investigate the effect of Chinese herbal medicine"heche assisted preg-nancy recipe (HCAPR)" on estrogen receptor(ER), progesterone receptor (PR), pro-lifierating cell nuclear antigen(PCNA) and vascular endothelial growth factor (VEGF)in endometrium of infertile women.Methods: The S-P immunohistochemical assay was used to observe expression ofER, PR , PCNA and VEGF in late proliferative phase before and after the HCAPR treat-ment.Results: After the treatment, the expression of ER,PR,PCNA and VEGF in nucleiof glandular epithelium and stromal cells was significantly stronger (all P<0. 001) re-spectively than that before treatment , especially the expression of PCNA and VEGF.Conclusions: These results suggest that traditional Chinese medicine HCAPR oftonifying kidney and regulating menstruation increased the synthesis of ER,PR, PCNAand VEGF, which may promote normal growth and development of the endometrium ,improve the micro-environment of the endometrium, and enhance uterine receptivity.The evidence may provide theoretical basis for therapy infertility with Chinese herbalmedicine.

  15. Regulation of C. elegans fat uptake and storage by acyl-CoA synthase-3 is dependent on NR5A family nuclear hormone receptor nhr-25

    DEFF Research Database (Denmark)

    Mullaney, Brendan C; Blind, Raymond D; Lemieux, George A;

    2010-01-01

    Acyl-CoA synthases are important for lipid synthesis and breakdown, generation of signaling molecules, and lipid modification of proteins, highlighting the challenge of understanding metabolic pathways within intact organisms. From a C. elegans mutagenesis screen, we found that loss of ACS-3, a l...... program of lipid uptake and synthesis. These results reveal a link between acyl-CoA synthase function and an NR5A family nuclear receptor in C. elegans....... mutant phenotypes require the nuclear hormone receptor NHR-25, a key regulator of C. elegans molting. Our findings suggest that ACS-3-derived long-chain fatty acyl-CoAs, perhaps incorporated into complex ligands such as phosphoinositides, modulate NHR-25 function, which in turn regulates an endocrine...

  16. 眼咽型肌营养不良一家系临床与分子遗传学研究%Clinical and molecular genetic studies of a Chinese family with oculopharyngeal muscular dystrophy

    Institute of Scientific and Technical Information of China (English)

    陈永洪; 龙跃生; 蔡莉莉; 王海龙; 马彪; 傅君毅; 夏勇; 李新毅; 解龙昌

    2015-01-01

    Objective To investigate the clinical and molecular genetic changes in a Chinese family with oculopha⁃ryngeal muscular dystrophy(OPMD). Methods We collected the clinical data of the familial members and blood sam⁃ples from all available 16 familial members, including the proband. The samples were analyzed using modified poly⁃merase chain reaction amplification and direct sequence analysis. Results Male OPMD patients initially presented with ptosis, followed by pronunciation difficulty, dysphagia and limb weakness whereas female OPMD patients initially pre⁃sented with swallowing difficulty. Genetic test revealed the abnormal expansions of the GCG trinucleotide repeat from GCG6 to GCG10 in PABPN1 gene in 10 familial members. Conclusions The genetic test and prenatal diagnosis is the key for the prevention treatment of oculopharyngeal muscular dystrophy. The ptosis of eyelid may be the initial symptom for the male patients of oculopharyngeal muscular dystrophy with (GCG)10 mutation.%目的:探讨一考虑诊断眼咽型肌营养不良(oculopharyngeal muscular dystrophy,0PMD)家系的临床及分子生物学特点。方法收集该家系成员的临床资料,并经包括先证者在内的16位家族成员同意,收集其血样进行聚合酶链反应(PCR)基因验证分析。结果该家系成员男性患者起病以眼睑下垂为首发症状,而后开始逐渐出现以发音及吞咽困难为表现的咽部肌群和肢体乏力为表现的四肢近端肌群受累,而女性患者则往往以吞咽困难为首发表现。参与基因检测的家族成员中共发现10位存在多聚腺苷酸结合蛋白核l(PABPN1)基因的(GCG)6重复异常拷贝为(GCG)10,从而导致了丙氨酸的扩增。结论基因诊断及产前诊断是确诊及预防眼咽型肌营养不良的关键,眼睑下垂可能为携带(GCG)10突变男性OPMD患者的首发症状。

  17. Interesting article: cancer in children of nuclear industry employees: report on children aged under 25 years from nuclear industry family study

    International Nuclear Information System (INIS)

    This important study turns on the following of 46 107 children, whom 39 557 children of male workers and 8 883 children of female workers. Among these ones, 2 333 children were born from both parents working in nuclear industry. 111 cases of cancer whom 28 of leukemia are reported. 97% of the whole have been strictly identified. The results suggest that the incidence of malignant diseases ( leukemia and cancers) among children of parents working in nuclear industry is not different of this one observed for the entire of population. (N.C.)

  18. 先天性Q-T间期延长综合征3型一家系基因突变分析%Gene mutation analysis of a Chinese family of congenital long Q-T syndrome type three

    Institute of Scientific and Technical Information of China (English)

    史瑞明; 马爱群; 张艳敏; 杨春; 黄晨; 周熙惠; 刘小红

    2009-01-01

    Objective The congenital long QT syndrome(LQTs)is a hereditary disorder in which most affected family members have delayed ventrieular repolarization manifested on the electrocardiogram (ECG)as QT interval prolongation.The disorder is associated with an increased propensity to arrhythmogenie syncope,polymorphous ventricular tachycardia(torsade de pointes),and sudden arrhythmic death.LQTs is due to mutations involving principally the myocyte ion-channels,and this monogenetic disorder has an autosomal inheritance pattern.This study investigated the gene mutation of a Chinese family of LQTs with multiple phenotypes including dilated cardiomyopathy(DCM)and cardiac conduction defects,thus to understand the molecular pathogenesis of the diseases.Methods A three-generation Chinese LQTs family with multiple phenotypes was investigated Blood sample was collected from the 8 family members and 100 unassociated normal individuals.Polymerase chain reaction(PCR)-DNA direct sequencing was performed to screen all exons and their flanking introns of SCN5A gene for mutation analysis.Polymerase chain reaction-single strand conformation polymorphism(PCR-SSCP)was used to exclude polymorphism.Results PCR amplification and subsequent direct sequencing of SCN5A from proband revealed a heterozygous deletion of nine base pairs(CAGAAGCCC)in exon 26,corresponding to the three amino acid residues Gln1507-Lys1508-Pro1509 (QKP).This mutation is localized in the linker region between DⅢ-DⅣ of SCN5A.The same mutation was found in another patient(her grandmother)and excluded in the remaining living subjects in this family.This mutation was confirmed using SSCP in 100 unassociated healthy individuals.Similar analysis excluded possible mutations that would lead to amino acid changes in KCNQ1,KCNH2 and LAMIN A/C commonly associated with LQTs and DCM with conduction disorders,no new mutations that would lead to amino acid changes was found.Conclusion The result of the present study suggests that

  19. Rezension von: Nancy E. Riley: Gender, Work, and Family in a Chinese Economic Zone. Laboring in Paradise. Wiesbaden: Springer VS 2013.

    Directory of Open Access Journals (Sweden)

    Yvonne Berger

    2015-03-01

    Full Text Available Das Buch eignet sich vor allem für Wissenschaftler/-innen, die sich mit den Lebenswirklichkeiten von Arbeitsmigrantinnen in China aus geschlechtertheoretischer Sicht beschäftigen. Nancy E. Riley interessiert sich ethnographisch für den Zusammenhang von Geschlecht, Arbeit und Familie. Konkret geht die Autorin dabei der Frage nach, inwiefern die in der Dalian Economic Zone (DEZ arbeitenden Frauen Erwerbsarbeit als eine Ressource der sozialen Mobilität und der Verhandlung innerfamilialer Machtpositionen nutzbar machen können. Mit Fokus auf dieser (Sonder-Wirtschaftszone und den familialen Lebenswirklichkeiten der Frauen erschließen sich spannende Einsichten in das wirtschaftlich aufstrebende China und den damit einhergehenden sozialen Wandel von Geschlechterverhältnissen.

  20. Challenges to culturally sensitive care for elderly chinese patients: a first-generation Chinese-American perspective.

    Science.gov (United States)

    Chan, Karen C

    2013-01-01

    Physicians and medical institutions in the United States are placing increasing emphasis on providing culturally sensitive care for patients, such as implementing a Confucian family-based model of medical decision making when caring for elderly Chinese patients. In this article, I articulate various reasons why deferring to the family is not a guarantee of culturally sensitive care, particularly when family members are first-generation Chinese-Americans. Nonetheless, I offer several suggestions to help physicians, medical institutions, and family members to provide more culturally sensitive care for elderly Chinese patients. PMID:24597422

  1. An investigation of concerns of Chinese patients and their families before total knee arthroplasty%膝关节置换术前患者及家属关注问题调查

    Institute of Scientific and Technical Information of China (English)

    李杨; 蔡宏; 张克

    2013-01-01

    Objective To learn about the degree of concerns of Chinese patients and their family about the upcoming total knee arthroplasty ( TKA ), postoperative rehabilitation, expectation and other relevant diagnosis and treatment procedures. Methods 128 patients who were scheduled to undergo TKA and their family members were inquired about preoperative concerns with a 61-question questionnaire. The degree of concerns was assessed by assigning a score on a scale of 1-4 ( 1=not concerned, 2=somewhat concerned, 3=very concerned and 4=extremely concerned ). Collected data were then statistically analyzed. Results The mean score of the degree of concerns of all the patients about all the items was 3.11. The top 5 concerns of Chinese patients were the ability to walk with no difficulties postoperatively ( 3.78 ), surgeons’ experience ( 3.73 ), the risk of failure in the surgery ( 3.68 ), the lifespan of joint prostheses ( 3.63 ) and the ability to take care of oneself postoperatively ( 3.63 ). The mean score of the degree of concerns of their family members was 3.18. The top 5 concerns of family members were surgeons’ experience ( 3.86 ), the ability to walk with no difficulties postoperatively ( 3.82 ), the postoperative pain relief rate ( 3.74 ), the postoperative occurrence of ankylosis ( 3.72 ), pain existing or not after discharge ( 3.72 ). The patients under 65 years old were evidently more concerned about the 6 items than those aged greater than or equal to 65 years old, including the ability to look after children postoperatively, the ability to enjoy recreations postoperatively, the lifespan of joint prostheses, the ability to ride a bike postoperatively, the ability to lift weights postoperatively and the occurrence of fractures around artificial prostheses after TKA. The scores of the degree of concerns of elderly and young patients about the occurrence of anesthetic accident were 3.71 and 3.38 respectively ( P=0.036 ). The scores of the degree of concerns of

  2. Sino-American seminar on nuclear liability

    International Nuclear Information System (INIS)

    The Sino-American Seminar on Nuclear Liability was held in Beijing, People's Republic of China from April 26-27, 2000, and co-sponsored by Chinese Nuclear Society and U.S. Nuclear Energy Institute. The topics of the meeting were the follows: 1. Current U.S. Nuclear Liability Regime; 2. Current Chinese Nuclear Liability Regime; 3. Comparison of U.S. and Other Nuclear Liability Regime; International Nuclear Liability Conventions; 4. Role of Nuclear Insurance in U.S.; 5. Chinese Nuclear Insurance and Chinese Nuclear Insurance Pool; 6. How nuclear Liability Practices Have Been Implemented in U.S.; U.S. Nuclear Claims Experience; 7. Liability for On-Site Nuclear Property Damage

  3. Genetic analysis of mitochondfial DNA in two consanguineous Chinese Han Leber's hereditary optic neuropathy families%中国汉族Leber遗传性视神经病变家系的遗传学检测与分析

    Institute of Scientific and Technical Information of China (English)

    陈雪娟; 高翔; 赵晨; 赵堪兴

    2013-01-01

    Objective To investigate the genetic basis for two consanguineous Chinese Han Leber's hereditary optic neuropathy(LHON) families.Methods All participants in two families were examined clinically and the genomic DNA was extracted from peripheral venous blood.PCR and Sanger sequencing were performed to screen mutations in the whole mitochondfial DNA(mtDNA).The sequence results were analyzed and compared with the updated consensus Cambridge sequence to identify new mutations and classify the haplotype.Results Genetic analysis identified the ND4 m.11778G>A primary mutaion in both families.The whole mtDNA sequence analysis results showed 45 variants,which classified the two families separately to haplogroup R11b and haplogroup B4b.Conclusion Primary mutation ND4 m.11778G>A is very likely the pathogenical mutation for the two LHON families.In addition,belong to different haplogroups would like the main reason for the differences in penetrance,the age of onset and the severity between the two families.%目的 探讨2个中国汉族Leber遗传性视神经病变(LHON)家系的遗传学基础.方法 提取所有参与者外周血全基因组DNA,并对2个先证者及其他母系成员进行详细的眼科检查.采用PCR方法扩增ND1 m.3460G>A、ND4 m.11778G>A和ND6 m 14484T>C三个原发突变,Sanger测序明确原发突变后,对2个先证者扩增线粒体DNA(mtDNA)全序列;测序结果与最新剑桥标准mtDNA序列比对,分析2个家系的线粒体单体型.结果 2个家系均携带ND4 m 11778G>A原发突变,但LHON的外显性、发病年龄及病情严重程度存在一定差异.2个家系mtDNA全序列测序结果共存在45个mtDNA变异位点,分别归属于东亚单体组R11b和B4b.结论 除受ND4m.11778G>A纯合原发突变影响外,线粒体单体型也可能调控LHON.

  4. Templates of "Chineseness" and Trajectories of Cambodian Chinese Entrepreneurship in Phnom Penh

    Directory of Open Access Journals (Sweden)

    Michiel Verver

    2012-09-01

    Full Text Available In the 1960s, William Willmott described Cambodia as a plural society in which different ethnic groups occupy different places in the economic structure. The Chinese made up the economic class, active in trade and commerce, and formed a definable ethnic community, both socioculturally and politically. Since Willmott’s seminal studies, Cambodia’s ethnic Chinese have endured the destruction and repression of both private enterprise and Chinese sociocultural life (1970–1990, followed by a revitalization of Chinese business. Through ethnographic case studies, this paper explores the relationship between “Chineseness” and business life in trajectories of Cambodian Chinese entrepreneurship in Phnom Penh. How do entrepreneurs deploy notions of Chinese business? The author argues that Chinese family businesses, trust-based networks, patronage arrangements, and cultural representations have indeed been greatly revitalized over the last few decades, but that they also remain challenged in certain contexts. Moreover, such revitalization has taken a fundamentally different form from Willmott’s description. Practices of Chinese business can no longer be ascribed to an ethnic Chinese “community” in Phnom Penh. Rather, as the latter has become increasingly multiform, Chinese business has developed into a template at the deployment (or neglect of a broader category of Cambodian Chinese entrepreneurs.

  5. Maternally inherited hypertension is associated with mitochondrial DNA point mutation in a large Chinese family%线粒体DNA点突变有关的中国大家族母系遗传性高血压研究

    Institute of Scientific and Technical Information of China (English)

    孙俊芳; 高进辽; 李宗斌; 蓝云峰; 杨洁; 李泱; 刘昱圻

    2013-01-01

    Objective To investigate the clinical and genetic characteristics of a large Chinese family with maternally inherited hypertension. Methods The mitochondrial DNA point mutation was detected by sequence analysis in 1865 patients with essential hypertension. Then the families were followed up, and the clinical data were collected for statistical analysis. Results The morbidity of hypertension in the maternal members was up to 55.6%, while that of the non-maternal members was only 15.6% (P 0.05). Conclusion The morbidity of hypertension is higher in maternal members than in non-maternal members. Genetic analysis shows that it is a family with maternally inherited hypertension, which may be related with mitochondrial DNA point mutation. Our findings suggest that mitochondrial DNA mutation may be associated with maternally inherited hypertension, and play an important role in the incidence of hypertension.%目的 研究具有母系遗传性特点的原发性高血压中国大家系临床与遗传学特点.方法 对入选的1865例原发性高血压患者进行线粒体DNA测序分析,发现线粒体DNA点突变,对其进行家系随访,收集该家系成员临床资料进行分析,分析其遗传学特点.结果 该家系中母系成员高血压患病率高达55.6%,非母系成员高血压患病率15.6%(P0.05);结论该家系母系成员高血压发病率明显高于非母系成员,该家系符母系遗传特点,高血压发病与线粒体DNA突变有关,提示线粒体DNA突变可能与母系遗传性高血压发病有关,在高血压发病中发挥重要作用.

  6. 一个Bethlem肌病家系的临床表型及分子遗传学研究%Clinical and mutation analyses of a Chinese family with Bethlem myopathy

    Institute of Scientific and Technical Information of China (English)

    杨海坡; 张艳芝; 丁娟; 焦辉; 吕俊兰; 熊晖

    2012-01-01

    目的 分析并确立一个连续3代患病的Bethlem肌病家系的临床表型特点及基因突变情况.方法 收集先证者及其家系成员的临床资料并提取家庭成员外周血基因组DNA,PCR扩增COL6A1、A2和A3基因的外显子,以琼脂糖凝胶电泳鉴定PCR产物,PCR产物纯化后DNA直接测序,确定基因突变的类型,并进一步分析基因型及表型的关系.取患者皮肤进行成纤维细胞培养,通过特异性免疫荧光染色比较对照组与患者成纤维细胞外基质中Ⅵ型胶原蛋白的表达.结果 家系中9例患者临床上符合Bethlem肌病的诊断,其特点为晚婴期出现运动发育落后,肢体无力,走路不稳,蹲下站起困难,远端关节过度松弛,近端关节挛缩,皮肤改变(卷烟纸样瘢痕),智力正常.查血清肌酸激酶轻度升高,肌电图提示肌源性损害.疾病缓慢进展但不影响寿命.7例患者经基因检测均证实存在COL6A1基因第2外显子c.111-129缺失突变,此为国际没有报道过的新突变.与对照组相比,患者成纤维细胞外基质中Ⅵ型胶原蛋白表达明显减少.结论 明确了我国一个Bethlem肌病家系的临床特点,该家系符合常染色体显性遗传的遗传方式,其患者存在COL6A1基因第2外显子c.111-129缺失突变.%Objective To explore the clinical features and gene mutation of a Chinese family with Bethlem myopathy in three generations.Methods The clinical data of proband and his family members was collected.Genomic DNA from the patient and his family members was extracted routinely from peripheral blood leukocytes.Polymerase chain reaction and DNA direct sequencing were employed to analyze COL6A1,A2 and A3 genes to determine the mutation.And the relationship between genotype and phenotype was analyzed.Furthermore,the patient's skin fibroblast was cultured and immunofluorescent staining was performed with anti-collagen Ⅵ antibody.And the expression pattern of type Ⅵ collagen in extracellular matrix

  7. Prestudy Oskarshamn. Effects on the one-family house real estate market from near-by nuclear plants

    International Nuclear Information System (INIS)

    The effects on property values at Swedish nuclear sites have been investigated. No clear effects, neither negative nor positive, were found. Brief drops in value for 1-2 years were found in some cases, but the price levels were rapidly restored to the normal level

  8. Clinical and Molecular Diagnosis in a Big Chinese Family with Pendred Syndrome%一个Pendred综合征家系的临床及SLC26A4基因检测分析

    Institute of Scientific and Technical Information of China (English)

    陶峥; 柴永川; 李磊; 李晓华; 杨涛; 吴皓

    2012-01-01

    Objective To elucidate the clinical diagnosis and molecular pathogenesis of Pendred syndrome in a big Chinese family. Methods Clinical materials and DNA sample were obtained from the Pendred syndrome family. The exons and the flanking splicing sites of SLC26A4 were screened in the 4 major patients in this family by nested PCR and direct sequencing. Results The clinical characterizations of patients in this family included the prelingual sensorineural hearing loss, dysphonia, goiter, normal thyroid function and enlarged vestibular aqueduct. A total of 4 different types of SLC26A4 mutations were identified in the family. The proband , his father, his mother and his sister were carried with different SLC26A4 biallelic mutations which were p. Q514P and p. H723R,p. N392Y and p. H723R,c. 1548insC and p. Q514P,p. N392Y and c. 1548insC, respectively. Conclusion The proband, his father, his mother and his sister with Pendred syndrome were caused by different biallelic mutations of SLC26A4. In the 4 types of SLC26A4 mutations, p. Q514P is novel, which has not been yet reported in the previous literatures.%目的 探讨Pendred综合征的临床表现及SLC26A4基因检测特点.方法 对一个多人患病的Pendred综合征家系进行详尽的临床表型分析,并对其中4例耳聋患者进行SLC26A4基因全编码序列及侧翼序列的检测.结果 该家系共三代15人,其中6人(40.0%)为耳聋患者,6例均为语前感音神经性聋,2例(Ⅰ-3和Ⅱ-7)表现为言语障碍,5例(Ⅱ-4、Ⅱ-5、Ⅱ-7、Ⅲ-1、Ⅲ-2)伴单纯甲状腺肿大、3例(Ⅱ-5、Ⅲ-1、Ⅲ-2)伴前庭水管扩大.Ⅱ-4、Ⅱ-5、Ⅲ-1和Ⅲ-2这4例耳聋患者中共发现SLC26A4基因四种不同的突变,患病成员中先证者(Ⅲ-1)及其父亲(Ⅱ-4)、母亲(Ⅱ-5)和妹妹(Ⅲ-2)分别具有p.Q514P和p.H723R、p.N392Y和p.H723R、c.1548insC和p.Q514P、p.N392Y和c.1548ins C双等位基因突变.结论 该家系先证者及其父母、妹妹分别由SLC26A4基因不同复合杂

  9. Chinese Dream

    Institute of Scientific and Technical Information of China (English)

    2009-01-01

    The general managers of South Korean auto giants Hyundai and Kia have high hopes for the growing Chinese auto market. Both companies went through a painstaking period as the financial crisis first roared across the globe. Jin Shan-fa, General Manager of Hyundai Motor Group

  10. Plastid and nuclear DNA markers reveal intricate relationships at subfamilial and tribal levels in the soapberry family (Sapindaceae)

    OpenAIRE

    Buerki, S; Forest, F.; Acevedo-Rodríguez, P; Callmander, M. W.; Nylander, Johan; Harrington, M; Sanmartín, I.; Küpfer, P.; Alvarez, N

    2009-01-01

    The economically important soapberry family (Sapindaceae) comprises about 1900 species mainly found in the tropical regions of the world, with only a few genera being restricted to temperate areas. The infrafamilial classification of the Sapindaceae and its relationships to the closely related Aceraceae and Hippocastanaceae – which have now been included in an expanded definition of Sapindaceae (i.e., subfamily Hippocastanoideae) – have been debated for decades. Here we present a phylogenetic...

  11. Contribution of Myostatin gene polymorphisms to normal variation in lean mass, fat mass and peak BMD in Chinese male offspring

    Institute of Scientific and Technical Information of China (English)

    Hua YUE; Miao LI; Yu-juan LIU; Song-hua WU; Zhen-lin ZHANG; Jin-wei HE; Hao ZHANG; Chun WANG; Wei-wei HU; Jie-mei GU; Yao-hua KE; Wen-zhen FU; Yun-qiu HU

    2012-01-01

    Myostatin gene is a member of the transforming growth factor-β (TGF-β) family that negatively regulates skeletal muscle growth.Genetic polymorphisms in Myostatin were found to be associated with the peak bone mineral density (BMD) in Chinese women.The purpose of this study was to investigate whether Myostatin played a role in the normal variation in peak BMD,lean mass (LM),and fat mass (FM) of Chinese men.Methods:Four hundred male-offspring nuclear families of Chinese Han ethnic group were recruited.Anthropometric measurements,includingthe peak BMD,body LM and FM were measured using dual-energy X-ray absorptiometry (DXA).The single nucleotide polymorphisms (SNPs) studied were tag-SNPs selected by sequencing.Both rs2293284 and +2278G>A were genotyped using TaqMan assay,and rs3791783 was genotyped with PCR-restriction fragment length polymorphism (RFLP) analysis.The associations of the SNPs with anthropometfic variations were analyzed using the quantitative transmission disequilibrium test (QTDT).Results:Using QTDT to detect within-family associations,neither single SNP nor haplotype was found to be associated with peak BMD at any bone site.However,rs3791783 was found to be significantly associated with fat mass of the trunk (P<0.001).Moreover,for within-family associations,haplotypes AGG,AAA,and TGG were found to be significantly associated with the trunk fat mass (all P<0.001).Conclusion:Our results suggest that genetic variation within Myostatin may play a role in regulating the variation in fat mass in Chinese males.Additionally,the Myostatin gene may be a candidate that determines body fat mass in Chinese men.

  12. Molecular genetic study of Han nationality dopa-responsive dystonia in three Chinese families%汉族多巴敏感性肌张力障碍三个家系的分子遗传学研究

    Institute of Scientific and Technical Information of China (English)

    张社卿; 郑惠民; 谢惠君; 任大明; 林大宇

    2004-01-01

    背景:多巴敏感性肌张力障碍(dopa-responsive dystonia,DRD)的基本病因为遗传的缺陷,自1990年以来,中国有关本病的临床报道已有40余例,但相关的分子遗传研究报道较少.目的:分析国人DRD患者发病与三磷酸鸟苷环化水解酶1(GCH-1)基因突变的关系.设计:典型调查.地点和对象:来自3个家庭的5例于2000-10/2001-07在解放军第二军医大学长海医院神经内科确诊的DRD患者及其亲属共12个成员.方法:经静脉采血2 mL,常规提取基因组DNA,以PCR扩增GCH-1基因,反应产物用自动DNA测序仪直接测序.主要观察指标:三个家系中是否有基因突变.结果:在A家系,先证者母亲为正常个体,基因测序显示无基因突变,其中3例患病个体DNA测序发现第2个外显子142号碱基由鸟嘌呤转换为腺嘌呤(G→A),导致半胱氨酸被替换为酪氨酸;估计其突变基因来自已故父系一方.在B家庭,先证者第一个外显子71号碱基由胸腺嘧啶转换为胞嘧啶(T→C),导致亮氨酸被替换为脯氨酸;而其父母及弟均为正常个体.C家庭无GCH-1基因突变.结论:GCH-1基因突变只是部分DRD患者的发病原因.%BACKGROUND: The basic cause of Dopa-responsive dystonia(DRD) is the genetic defect. Since 1990, the clinical reports about this disease in China have already been more than 40, however, research about the molecular genetics of this disease is rarely.OBJECTIVE: To analyze the relationship between Chinese DRD onset and gene mutation of guanosine triphosphate cyclohydrolase 1 (GCH-1 ).DESIGN: Typical investigation,SETTING and PARTICIPANTS: Five patients with DRD, 2000 - 10/2001 -07 in Changhai Hospital of the Second Military Hospital of Chinese PLA, and their families, totally 12 members from 3 families, were involved in this research.METHODS: Venous blood(2 mL) was drawn and genomic DNA was extracted by standard technique. GCH-1 genes were amplified by PCR, and reaction products were directly sequenced

  13. 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

  14. Estrés Materno y Configuración Familiar: Estudio comparativo en Familias Chilenas Monoparentales y Nucleares de bajos ingresos / Maternal Stress and Family Constitution: Comparative Study on Chilean, Single-Mother and Nuclear, Low-Income Families

    OpenAIRE

    Marcia Olhaberry; Chamarrita Farkas

    2012-01-01

    Los estudios sobre estrés materno durante la crianza infantil han considerado variables contextuales para explicarlo. El nivel socioeconómico, así como la configuración familiar han sido variables relevantes, asociándose monoparentalidad en familias de bajos ingresos a mayores niveles de estrés materno. Se estudian los niveles de estrés materno en familias chilenas nucleares y monoparentales de N.S.E. bajo, considerando el estrés en distintas dimensiones, asociado al rol materno, a la interac...

  15. Molecular etiology of non-syndromic hearing impairment in a Chinese family%非综合征性耳聋一家系分子病因学分析

    Institute of Scientific and Technical Information of China (English)

    孙勍; 单希征; 马丽涛; 康东洋; 张昕; 刘新; 王国建; 袁慧军; 韩东一

    2009-01-01

    Objective To investigate the molecular etiology of non-syndromic hearing impairment in two patients in a maternal inherited deafness Chinese family. Methods Peripheral blood specimens were collected and DNA templates extracted. The complete mitochondrial genomes and GJB2 geoe were sequenced in an ABI 3100 Avant sequencer. Results The proband(Ⅲ-5) and her elder sister(Ⅲ-1) were found to carry the mtDNA 12SrRNA C1494T mutation. The GJB2 gene showed no mutations. The proband had the history of using aminoglycosides before hearing loss, and exhibited severe sensorineural hearing impairment; the proband's sister had no history of using aminoglycosides, and showed moderate sensorineural hearing impairment. Conclusion The molecular etiology of each individual patient in a family yaries with individual genetic background.%目的 从分子病因学角度分析一具有母系遗传特性的非综合征性耳聋家系耳聋原因.方法 对该家系成员进行线粒体基因全序列及缝隙连接蛋白26编码基因(GJB2)全序列分析.结果 接受检测的该家系先证者(Ⅲ-5)及另一母系成员(Ⅲ-1)均携带线粒体DNA 12SrRNA C1494T突变;先证者聋前有氨基糖苷类抗生素应用史,表现为双侧重度感音神经性耳聋,携带线粒体DNA12SrRNA C1494T突变的另一母系成员(Ⅲ-1)聋前无氨基糖苷类抗生素应用史,表现为双侧中度感音神经性耳聋.GJB2基因检测未发现致病突变.结论 线粒体DNA 12SrRNA C1494T突变是氨基糖苷类抗生素致聋的原因之一,该突变致聋程度的不一致性可能与个体遗传背景不同有关.

  16. Clinical,molecular genetic research of Chinese families with Duchenne muscular dystrophy%D uchenne 型肌营养不良家系的临床及分子遗传学研究

    Institute of Scientific and Technical Information of China (English)

    殷竞争; 丁雪冰; 王雪晶; 李梦; 滕军放

    2014-01-01

    Objective To investigate the clinical ,molecular genetic features of Duchenne muscular dystrophy.Methods Clinical data and results of genetic testing of two Chinese families were collected and retrospectively analyzed.This paper re‐viewed previous literatures to overview characteristics in the clinical manifestation ,molecular genetics of Duchenne muscular dystrophy.Results DMD is a myopathic disorder beginning at younger ,progressive ,and characterized by muscle weakness and wasting.Pseudohypertrophy of the calves is common.The serum creatine kinase (CK ) levels are exceptionally elevated.The eletromyogram and muscle biopsy show typical myogenic changes.Further gene test of the proband in the first family detected a homozygous deletion of exons 3~21 in DMD gene.In addition ,a repetitive mutation of exons 8 and 9 was identified in the proband of the second family.The probands’ mothers shared heterozygote of the mutations in two families ,consistent with X‐linked recessive inheritance.Conclusion Recognizing the clinical features early can be very useful to improve the diagnostic level of DMD.In addition ,genetic testing is an efficient and effective method to confirm the diagnosis of DMD.%目的:探讨Duchenne型肌营养不良(DMD)家系的临床及分子遗传学特征。方法收集并分析我院收治的2个DMD家系临床资料和基因检测结果,并结合既往相关文献,回顾该病在临床表现、分子遗传学等方面的特点。结果DMD儿童期隐匿起病,进行性加重,以肌无力、肌萎缩为特点,可伴肌肉假性肥大,血清肌酶水平异常增高,肌电图呈肌源性损害,肌肉活检呈肌病特征。本文报道的2个家系经基因检测家系1先证者为DMD基因的第3~21号外显子缺失,家系2先证者则为第8、9外显子重复突变,2个家系中的先证者基因均为纯合突变,且其母亲均为致病基因的携带者,符合X染色体隐性遗传的规律。结论早期

  17. Clinical study and linkage analysis for a Chinese Marfan syndrome family%马凡综合征一家系的临床研究及致病基因连锁分析

    Institute of Scientific and Technical Information of China (English)

    布娟; 张莹; 刘敬; 庞红蕾; 林淑芳; 王乐今

    2012-01-01

    Objective To study the clinical phenotype in a Chinese family with Marfan syndrome ( MFS) and determine the candidate gene using linkage analysis. Methods A detailed clinical ophthalmic and complete physical examinations were performed for all patients in the MFS family. The microsatellite markers which near known MFS candidate genes (FBN1, TGFBR1, TGFBR2) were used as genetic markers after determining the clinical phenotype and the mode of inheritance. Multiple amplitude of microsatellite sequence was performed using PCR. Two-point LOD scores were calculated using the Linkage program. Results The affected members in the pedigree had classical phenotype of MFS,they were inherited as an autosomal dominant trait. All patients in this family had various bilateral lens dislocation, high myopia and skeletal features. Only 2 patients had cardiovascular malformations. The disease phenotype co-segregated with the markers D3S1609 and D3S2432 which were near from TGFBR2 gene, the maximum LOD score was 3.22. Conclusion This family has autosomal dominant trait,the candidate gene locate in D3S1609 and D3S2432 near from TGFBR2 gene, the known TGFBR2 gene mutation may be the molecular basis for MFS.%目的 研究一个中国人马凡综合征( Marian sydrome,MFS)家系的临床特点,并通过基因连锁分析的方法对该家系的致病基因进行定位研究.方法 收集一个MFS家系,对家系所有成员进行全面详细的眼科及全身临床检查.确定其临床表型及遗传方式后,在位于MFS的已知基因FBN1、TGFBR1、TGFBR2附近选取微卫星标记物进行连锁分析.经ABI3130型遗传分析仪、Genscan 2.1收集数据,Genotyper 2.1进行基因分型,Linkage软件计算两点LOD值.结果 该家系的遗传方式为常染色体显性遗传,家系中所有患者均具有典型的晶状体脱位、高度近视及MFS的特征性骨骼改变.仅有2例患者表现为心血管系统的异常.与该家系连锁的染色体微卫星标记物为D3S1609

  18. THAI LITERATURES REFLECTING CHINESE IDENTITY IN THAI SOCIETY

    Directory of Open Access Journals (Sweden)

    Suchawadee Kesmanee

    2013-01-01

    Full Text Available Literatures present the picture of people’s lives in the society in details. There have been numerous studies on Chinese-Thai literatures but none of them has an in-depth study on the Chinese identity. This study has been conducted due to personal interest to analyze the authors’ effort to present the Chinese identity through the characters, contents and social contexts. The data were collected from Thai novels and documentaries dated between 1957 and 2007 of which main characters, content and context were related to the Chinese residing in Thailand. Data collected had been inspected, classified, analyzed and composed. It was found that the Thai literatures could possibly represent Chinese identity in Thai society in the areas of the relationship of the family members from being a male-dominated family to a female-accepted one, the conservation of Chinese language to represent the unity of the Chinese community, the importance of the Chinese opera and its struggle to survive in recent times and the existence of Chinese culture and tradition, which are acculturated and assimilated to the Thai culture. From the study of Chinese identity in Thai literature in four aspects: (1 family relationships, system of relatives and surnames; (2 Chinese Language; (3 Performing Arts and (4 Culture and tradition, it was found that no matter how strict the first generations are to the traditions, they cannot resist the cultural assimilation in the next generations, who are descendants of Chinese overseas in Thailand. Since these new generations were born and grew up in Thai culture, which is different from the one of their ancestors, their versions of Chinese traditions were affected by the Thai society, economy and political situations which led to the changes of the old Chinese tradition and even result in the loss of some tradition.

  19. Metabonomics Study of Essential Hypertension and Its Chinese Medicine Subtypes by Using Gas Chromatography-Mass Spectrometry and Nuclear Magnetic Resonance Spectroscopy

    OpenAIRE

    Yunlun Li; Lei Nie; Haiqiang Jiang; Jiamao Lin; Honglei Zhou; Jun Xie; Zhengjun Qu; Dongmei Qi; Yunhui Zhang

    2013-01-01

    A metabonomic study was performed to investigate the metabolic mechanism of essential hypertension and its Chinese medicine subtypes, including “Yin-deficiency and Yang-hyperactivity syndrome” (YDYHS) and “Yin-Yang deficiency syndrome” (YYDS). Plasma samples from 22 healthy volunteers, 31 hypertensive patients with YDYHS, and 29 hypertensive patients with YYDS were analyzed by 1H-NMR spectroscopy and gas chromatography coupled with mass spectrometry (GC-MS). The three groups were distinctly c...

  20. Short interspersed nuclear elements (SINEs) are abundant in Solanaceae and have a family-specific impact on gene structure and genome organization.

    Science.gov (United States)

    Seibt, Kathrin M; Wenke, Torsten; Muders, Katja; Truberg, Bernd; Schmidt, Thomas

    2016-05-01

    Short interspersed nuclear elements (SINEs) are highly abundant non-autonomous retrotransposons that are widespread in plants. They are short in size, non-coding, show high sequence diversity, and are therefore mostly not or not correctly annotated in plant genome sequences. Hence, comparative studies on genomic SINE populations are rare. To explore the structural organization and impact of SINEs, we comparatively investigated the genome sequences of the Solanaceae species potato (Solanum tuberosum), tomato (Solanum lycopersicum), wild tomato (Solanum pennellii), and two pepper cultivars (Capsicum annuum). Based on 8.5 Gbp sequence data, we annotated 82 983 SINE copies belonging to 10 families and subfamilies on a base pair level. Solanaceae SINEs are dispersed over all chromosomes with enrichments in distal regions. Depending on the genome assemblies and gene predictions, 30% of all SINE copies are associated with genes, particularly frequent in introns and untranslated regions (UTRs). The close association with genes is family specific. More than 10% of all genes annotated in the Solanaceae species investigated contain at least one SINE insertion, and we found genes harbouring up to 16 SINE copies. We demonstrate the involvement of SINEs in gene and genome evolution including the donation of splice sites, start and stop codons and exons to genes, enlargement of introns and UTRs, generation of tandem-like duplications and transduction of adjacent sequence regions. PMID:26996788