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Sample records for chinese family maps

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

    Institute of Scientific and Technical Information of China (English)

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

    2006-01-01

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

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

    Institute of Scientific and Technical Information of China (English)

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

    2009-01-01

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

  3. Chinese Family Culture in the Ascendant

    Institute of Scientific and Technical Information of China (English)

    1995-01-01

    IN the mid 1980s, Chinese family culture started in Shanghai. Now, more than ten years later, it has spread to cities and the countryside all over China The rise of Chinese family culture cannot be separated from the improved economic development. Reform and opening to the outside world greatly increased the living standard of Chinese families. Many people are in pursuit of

  4. Normal family of quasimeromorphic mappings

    Institute of Scientific and Technical Information of China (English)

    SUN; Daochun(孙道椿); YANG; Lo(杨乐)

    2003-01-01

    The more general quasimeromorphic mappings are studied with the geometric method. The necessary and sufficient conditions for the normality of the family of quasimeromorphic mappings are discussed. We proved two inequalities on the covering surface and obtained some normal criteria on quasimeromorphic mappings with them. Obviously, these criteria hold for meromorphic functions.

  5. 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.

  6. 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 ...

  7. World Family Map Project. Prototype Report

    Science.gov (United States)

    Wilcox, W. Bradford; Lippman, Laura; Whitney, Camille

    2009-01-01

    In 2010, the "World Family Map Project" seeks to launch a research initiative that will track central indicators of family strength around the globe. The "World Family Map Project" (WFMP) would partner with Child Trends, a nonpartisan research organization in Washington, D.C., the Institute of Marriage and Family Canada, and…

  8. World Family Map Project. Prototype Report

    Science.gov (United States)

    Wilcox, W. Bradford; Lippman, Laura; Whitney, Camille

    2009-01-01

    In 2010, the "World Family Map Project" seeks to launch a research initiative that will track central indicators of family strength around the globe. The "World Family Map Project" (WFMP) would partner with Child Trends, a nonpartisan research organization in Washington, D.C., the Institute of Marriage and Family Canada, and research organizations…

  9. 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,

  10. Chinese Family Problems: Research and Trends.

    Science.gov (United States)

    Zhangling, Wei

    1983-01-01

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

  11. Relational incentives in Chinese family firms

    Directory of Open Access Journals (Sweden)

    Pi Jiancai

    2011-01-01

    Full Text Available 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 that under other conditions it is optimal for the owner to choose the share-based incentive contract.

  12. Mapping the Chinese Science Citation Database

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    Leydesdorff, Loet

    2009-01-01

    Methods developed for mapping the journal structures contained in aggregated journal-journal citations in the Science Citation Index are applied to the Chinese Science Citation Database of the Chinese Academy of Sciences. This database covers 991 journals, of which only 37 had originally English titles. Using factor-analytical and graph-analytical techniques we show that this data is dually structured. The main structure is the intellectual organization of the journals in journal groups (as in the international SCI), but the university-based journals provide an institutional layer that orients this structure towards practical ends (e.g., agriculture). The Chinese Science Citation Database exhibits the characteristics of Mode 2 in the production of scientific knowledge more than its western counterparts. The contexts of application lead to correlation (interfactorial complexity) among the components.

  13. Mothers' Self-Reported Emotional Expression in Mainland Chinese, Chinese American and European American Families

    Science.gov (United States)

    Camras, Linda; Kolmodin, Karen; Chen, Yinghe

    2008-01-01

    This study compared Mainland Chinese, Chinese American and European American mothers' self-reported emotional expression within the family. Mothers of 3-year-old European American (n = 40), Chinese American (n = 39) and Mainland Chinese (n = 36) children (n = 20 girls per group) completed the Self-Expressiveness in the Family Questionnaire (SEFQ),…

  14. The Universal α-Family of Maps

    Science.gov (United States)

    Edelman, Mark

    2013-03-01

    We modified the way in which the Universal Map is obtained in the regular dynamics to derive the Universal α-Family of Maps depending on a single parameter α > 0 which is the order of the fractional derivative in the nonlinear fractional differential equation describing a system experiencing periodic kicks. We show that many well-known regular maps, like integer n- dimensional (area/volume preserving for n > 1) quadratic maps (including for n = 1 the Logistic Map which is not measure preserving) and n-dimensional (volume preserving for n > 2) standard maps (including the non-measure preserving Circle Map and the area preserving Standard Map), can be considered as particular forms of the Universal α-Family of Maps. In the case of the fractional α corresponding maps, which are maps with memory, demonstrate various types of attractors including cascade of bifurcation types trajectories. Maps with memory can be applied for modeling biological systems and circuit elements with memory.

  15. Chinese character recognition using simulated phosphene maps.

    Science.gov (United States)

    Zhao, Ying; Lu, Yanyu; Zhou, Chuanqing; Chen, Yao; Ren, Qiushi; Chai, Xinyu

    2011-05-01

    A visual prosthetic device may produce phosphene maps in which individual phosphene characteristics can be altered. This study was an investigation of the ability of normally sighted subjects to recognize Chinese characters (CCs) after altering simulated phosphene maps. Thirty volunteers with normal or corrected visual acuity of 20/20 were recruited. CC recognition accuracy and response time were investigated while one parameter was changed (distortion, pixel dropout percentage, pixel size variability, or pixel gray level) or different combinations of three parameters were used. Five hundred CCs consisting of 1 to 16 strokes were used for the character sets. CC recognition accuracy and response times respectively decreased and increased when distortion, dropout, and pixel size variability increased. Gray levels did not significantly affect the results, except when eight levels were used. To maintain an 80% accuracy rate, there should be a distortion index (k) of no more than 0.2 (irregularity), a pixel dropout of 20%, and a pixel size range of 1 to 16 mm (7-112 min arc). Only a combination of a k=0.1 distortion index, a dropout of 10%, and a pixel size range of 1.33 to 12 mm (9.3-84 min arc) achieved a goal of ≥80% accuracy. Distortion, dropout percentage, and pixel size variability have a significant impact on pixelated CC recognition. Although at present the visual ability of prosthesis users is limited, it should be possible to extend this to CC recognition and reading in the future. The results will help visual prosthesis researchers determine the effects of altering phosphene maps and improve outcomes for patients.

  16. 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…

  17. Cultivating Morality in Chinese Families--Past, Present, and Future

    Science.gov (United States)

    Wang, Xiao-lei

    2017-01-01

    This article examines past and present moral education practices in Chinese families. It begins with a brief overview of Confucian thought on moral education and its lasting influence on Chinese moral ethos. It then identifies the types of moral values emphasised by Chinese parents, as well as the kinds of moral education literature they use for…

  18. Acculturative family distancing (AFD) and depression in Chinese American families.

    Science.gov (United States)

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

    2010-10-01

    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 formulation of the acculturation gap and is hypothesized to increase depression via family conflict. Data were collected from 105 Chinese American high school students and their mothers. Rasch modeling was used to refine the AFD measure, and structural equation modeling was used to determine the effects of AFD on youth and maternal depression. Findings indicate that greater AFD was associated with higher depressive symptoms and risk for clinical depression. Family conflict partially mediated this relation for youths, whereas for mothers, AFD directly increased risk for depression. Greater mother-child heritage enculturation discrepancies were associated with greater mother and child AFD. Mainstream acculturation discrepancies and language gaps between mothers and youths were not significantly associated with any of the primary outcome variables. Results highlight the need for better understanding of how AFD and other acculturation-gap phenomena affect immigrant mental health. They also underscore the need for prevention and intervention programs that target communication difficulties and intergenerational cultural value differences. Copyright 2010 APA, all rights reserved.

  19. Familial correlation of retinal vascular caliber in Singapore Chinese

    NARCIS (Netherlands)

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

    2013-01-01

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

  20. Familial correlation of retinal vascular caliber in Singapore Chinese

    NARCIS (Netherlands)

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

    2013-01-01

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

  1. Mapping 'Chinese media studies': A diagnostic survey

    OpenAIRE

    Hong, Jeesoon

    2011-01-01

    This article views Chinese media as a complex web of diverse academic disciplines and political perspectives, and provides a diagnostic survey of the various disciplines that deal with Chinese media. By clarifying and comparing the methodological characteristics of these academic disciplines, it attempts to prepare for interdisciplinary dialogue. It will pose questions such as what kinds of disciplines have become involved in the studies of Chinese media; what are the main focuses and the met...

  2. Psychometric Properties of the Chinese Family Assessment Instrument in Chinese Adolescents in Hong Kong

    Science.gov (United States)

    Siu, Andrew M. H.; Shek, Daniel T. L.

    2005-01-01

    This paper reports evidence on the factor structure, reliability, and validity of the Chinese Family Assessment Instrument (C-FAI), an instrument developed to assess family functioning in Chinese populations. A convenience sample of 1,462 adolescents from junior secondary schools completed the C-FAI and measures of parent-adolescent conflict.…

  3. The Mapping Schema from Chinese Agricultural Thesaurus to AGROVOC

    OpenAIRE

    Liang, Anita; Sini, Margherita; Chun, Chang; Sijing, Li; Wenlin, Lu; Chunpei, He; Keizer, Johannes

    2005-01-01

    This paper introduces the criteria and the procedures for mapping the Chinese Agricultural Thesaurus (CAT) to FAO’s multilingual agricultural thesaurus AGROVOC. It proposes modifications to the interthesaurus mapping rules provided in the Simple Knowledge Organization System (SKOS) specification. It outlines in detail the criteria for the application of each of the mapping rules. We will describe the procedure for the application for these rules and give concrete examples taken from both t...

  4. 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.

  5. Construction of AFLP-based genetic linkase maps for the Chinese shrimp Fenneropaeneus chinensis

    Institute of Scientific and Technical Information of China (English)

    TIAN Yi; KONG Jie; WANG WeiJi

    2008-01-01

    Fenneropaeneus chinensis is an important species in marine fishery resources and aquaculture in China. A genetic linkage map is essential for improving the efficiency of its breeding by marker-as-sisted selection and identifying commercially important genes. Linkage maps of F. Chinensis were constructed with an F2 mapping population (110 progenies) using amplified fragment length polymor-phic (AFLP) marker in this study. Fifty-five AFLP primer combinations produced 532 AFLP markers fitting for map strategy in mapping family. The markers with 3:1 segregating ratios were analyzed using F2 intercross model for the common linkage map, while the markers with 1:1 ratio were analyzed using the pseudo-testcross strategy. The maps of male, female and common were constructed. The female map included 103 markers that formed 28 linkage groups, covering a total length of 1090 cM. All mark-ers were linked with the linkage groups. Segregation distortion was observed for 6 of 103 markers in the female map. The average distance between markers was 14.53 cM and ranged from 4.4 to 24.8 cM. The male map included 144 markers that formed 35 linkage groups. Ten markers remained unlinked in male map. Segregation distortion was observed for 7 of 144 markers in the male map. The total dis-tance of male map covered 1617 cM. The average distance between markers was 16.36 cM. The male map was 32.6% longer than the female map, which may reflect sex-specific recombination rates in Chinese shrimp. The common map was composed of 216 markers, including in 44 linkage groups covering a total distance of 1772.1 cM. Two markers remained unlinked. No distorted markers of 216 markers were shown in the common map. The distance between markers was 10.42 cM. An average estimated genome size for the Chinese shrimp was 2420 cM, which was consistent with the relative size of the Penaeid genome. The distribution of AFLP markers was relatively even in chromosomes of Chi-nese shrimp maps. The linkage analysis

  6. Assessment of Problem Gambling in a Chinese Context: The Chinese G-MAP

    Directory of Open Access Journals (Sweden)

    Daniel T. L. Shek

    2009-01-01

    Full Text Available There is a severe lack of instruments to assess problem gambling in Chinese people. This study examined the psychometric properties of the Chinese version of the Maroondah Assessment Profile for Problem Gambling (Chinese G-MAP, based on the responses of eight problem gamblers and 125 pathological gamblers seeking help from a problem gambling treatment center. Reliability analyses showed that the G-MAP and its related domains and scales were generally internally consistent. There are also several lines of evidence suggesting that the Chinese G-MAP and the various domains are valid: (a the various G-MAP domain and scale measures were significantly correlated among themselves, (b the G-MAP measures were significantly correlated with pathological gambling behavior assessed by the 4th Edition of the Diagnostic and Statistical Manual of Mental Disorders (DSM-IV, and (c the G-MAP total scale and domain measures were able to discriminate problem gamblers and pathological gamblers. The present study suggests that the Chinese G-MAP possesses acceptable psychometric properties that can be used in research and practice settings.

  7. A map of copy number variations in Chinese populations.

    Directory of Open Access Journals (Sweden)

    Haiyi Lou

    Full Text Available It has been shown that the human genome contains extensive copy number variations (CNVs. Investigating the medical and evolutionary impacts of CNVs requires the knowledge of locations, sizes and frequency distribution of them within and between populations. However, CNV study of Chinese minorities, which harbor the majority of genetic diversity of Chinese populations, has been underrepresented considering the same efforts in other populations. Here we constructed, to our knowledge, a first CNV map in seven Chinese populations representing the major linguistic groups in China with 1,440 CNV regions identified using Affymetrix SNP 6.0 Array. Considerable differences in distributions of CNV regions between populations and substantial population structures were observed. We showed that ∼35% of CNV regions identified in minority ethnic groups are not shared by Han Chinese population, indicating that the contribution of the minorities to genetic architecture of Chinese population could not be ignored. We further identified highly differentiated CNV regions between populations. For example, a common deletion in Dong and Zhuang (44.4% and 50%, which overlaps two keratin-associated protein genes contributing to the structure of hair fibers, was not observed in Han Chinese. Interestingly, the most differentiated CNV deletion between HapMap CEU and YRI containing CCL3L1 gene reported in previous studies was also the highest differentiated regions between Tibetan and other populations. Besides, by jointly analyzing CNVs and SNPs, we found a CNV region containing gene CTDSPL were in almost perfect linkage disequilibrium between flanking SNPs in Tibetan while not in other populations except HapMap CHD. Furthermore, we found the SNP taggability of CNVs in Chinese populations was much lower than that in European populations. Our results suggest the necessity of a full characterization of CNVs in Chinese populations, and the CNV map we constructed serves as a

  8. Lexical-semantic Mapping between Chinese and English Controlled Vocabularies in the Domain of Chinese Art

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    Shu-Jiun Chen

    2015-12-01

    Full Text Available This study conducts a lexical-semantic mapping between the Chinese controlled vocabulary developed by the National Palace Museum (NPM-CV in Taiwan and an English controlled vocabulary, the Art & Architecture Thesaurus (AAT developed by the Getty Research Institute in the U.S. that is primarily based on Western art. The research question is: In mapping a Chinese controlled vocabulary in Chinese art to a Western-centered art thesaurus, what types of relationships can be identified and what are the issues in mapping? The study’s main findings reveal that only one-third of the NPM-CV terms can be mapped as “exact equivalence” to AAT terms and three-fifths of the NPMCV terms have hierarchical relationships (narrower to broader with some AAT terms. Clearly, using AAT alone to index Chinese art collections will lead to insufficient indexing specificity. The study then proposes solutions to improve Chinese-English semantic interoperability for multilingual knowledge organization systems in the domain of Chinese art. [Article content in Chinese

  9. Using Eco-Mapping to Understand Family Strengths and Resources

    Science.gov (United States)

    McCormick, Katherine M.; Stricklin, Sarintha; Nowak, Theresa M.; Rous, Beth

    2008-01-01

    As professionals and families work together to identify and celebrate the strengths and resources unique to each family, new and innovative ways to describe and discuss family characteristics are needed. The eco-map, borrowed from social science disciplines, is one method used to describe family strengths and resources. The eco-map was developed…

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

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    Han, Q.|info:eu-repo/dai/nl/341157899

    2014-01-01

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

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

    NARCIS (Netherlands)

    Han, Q.

    2014-01-01

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

  12. Musical Memories: Snapshots of a Chinese Family in Singapore

    Science.gov (United States)

    Lum, Chee-Hoo

    2009-01-01

    This paper examines music in the home of a Chinese family in Singapore with specific attention to the children (aged five and seven) of the household: an exploration of what constitutes the lived 'musical' memory of a family enmeshed in the technology and media of a globalised world. The study is part of a larger ethnographic study on the musical…

  13. JEWISH FAMILY EDUCATION AND IMPLICATIONS ON CHINESE EDUCATION

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    柯艳

    2016-01-01

    The Jewish nation, though having experienced countless hardship, has strong risen again from a variety of setbacks. All power comes from their unique family education consisting of rich contents,such as wisdom, skill, religious, and history education.Family education is also of vital importance in all ages in China that a country surviving from various disasters. Therefore, This paper aims to study Jewish family education through its contents and features and explore the reflections on Chinese education.

  14. Family quality of life of Chinese families of children with intellectual disabilities.

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    Hu, X; Wang, M; Fei, X

    2012-01-01

    The concepts of quality of life and family quality of life (FQOL) are increasingly being studied in the field of intellectual disabilities (ID) in China as important frameworks for: (1) assessing families' need for supports and services; (2) guiding organisational and service delivery system changes; and (3) evaluating quality family outcomes. The present study focused on exploring the perceptions of Chinese families who have a child with an ID regarding FQOL as well as examining the factor structure of FQOL concept from Chinese families. The Chinese version of the Family Quality of Life Scale was used to survey Chinese families living in the urban and suburban areas of Beijing who have a child with ID. A total of 442 families participated in this study. Confirmatory factor analysis was used to test the factor structure of FQOL. Multivariate analysis was also used to examine group differences among families in terms of family demographic variables. A five-factor structure of the FQOL construct was found in the Chinese sample, suggesting a similar factor structure found from US families in the literature. Different living conditions (e.g. housing and transportation) tended to affect significantly families' satisfaction ratings of their FQOL. It is also found that family income and severity of disability of the child are predictors of families' satisfaction ratings of FQOL. The preliminary findings of this study suggest a cross-cultural factor structure comparability of FQOL between samples in the USA and China. Results call for further examination of the family-centred service and support as a mediator on the interactive relationship between family characteristics, family needs and FQOL outcomes. © 2011 The Authors. Journal of Intellectual Disability Research © 2011 Blackwell Publishing Ltd.

  15. Familial correlation of retinal vascular caliber in Singapore Chinese.

    Science.gov (United States)

    Li, Ling-Jun; Liao, Jiemin; Fan, Qiao; Cheung, Carol Yim-Lui; Ikram, M Kamran; Cheng, Ching-Yu; Saw, Seang-Mei; Wong, Tien-Yin

    2013-08-19

    Our study aimed to explore the heritability of retinal vascular caliber among Singapore Chinese families. In the Strabismus, Amblyopia, and Refractive Error Study in Singaporean Chinese Preschoolers (STARS) family study conducted from 2008 to 2010, a total of 727 participants (304 parent-child pairs, 83 sibling pairs, and 87 spouse pairs) were included in the analysis. According to standardized protocols, retinal photography, blood pressure measurements, anthropometric measurements, and interviews were performed at clinic. Retinal vascular caliber was assessed by a computer-assisted imaging program (IVAN). Familial correlation of retinal vascular caliber among family pairs was calculated by the FCOR procedure with S.A.G.E. computer software program package and heritability was double the value of the familial correlation. Mean age was 8.59 years in 304 children and 39.90 years in 423 parents. Mean CRAE and CRVE were 157.09 and 220.80 μm in children, and 150.29 and 220.70 μm in parents, respectively. In multivariate analysis, familial correlation of CRVE was 0.36 (P familial correlation study showed a strong correlation of retinal venular caliber in Singapore Chinese families among parent-child pairs and sibling pairs, independent of age, sex, blood pressure, and BMI. Our findings provide further evidence on substantial heritability of the microvasculature.

  16. The Family Map: A Tool for Understanding the Risks for Children in Families with Substance Abuse

    Science.gov (United States)

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

    2010-01-01

    This article reviews the findings from our assessments of children and their families in two Head Start programs using the Family Map. Specifically, we used the Family Map assessment tool to identify risks to children associated with alcohol and drug use in families with young children. Practical suggestions are offered to administrators about the…

  17. A New Family of Generalized 3D Cat Maps

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    Wu, Yue; Noonan, Joseph P

    2012-01-01

    Since the 1990s chaotic cat maps are widely used in data encryption, for their very complicated dynamics within a simple model and desired characteristics related to requirements of cryptography. The number of cat map parameters and the map period length after discretization are two major concerns in many applications for security reasons. In this paper, we propose a new family of 36 distinctive 3D cat maps with different spatial configurations taking existing 3D cat maps [1]-[4] as special cases. Our analysis and comparisons show that this new 3D cat maps family has more independent map parameters and much longer averaged period lengths than existing 3D cat maps. The presented cat map family can be extended to higher dimensional cases.

  18. 珊瑚状先天性白内障一家系致病基因筛查与鉴定%Gene mapping and analysis of genes in a Chinese family with congenital coralliform cataract

    Institute of Scientific and Technical Information of China (English)

    巩雪; 宋籽浔; 肖伟

    2016-01-01

    •AIM:To detect the causative mutation for congenital coralliform cataracts in a Chinese family.•METHODS:Peripheral blood samples were collected and genomic DNA was extracted.We chose four candidate genes associated with congenital coralliform cataract including GJA3,GJA8,CRYGC and CRYGD.After genomic polymerase chain reaction ( PCR ) performed, we sequenced the coding exons and their flanking intronic sequences of four candidate genes.•RESULTS:We ascertained a three-generation Chinese family with autosomal dominant coralliform congenital cataracts.Mutation screenings were performed for all four candidate genes, and a heterozygous variant, c.70C>A, was identified in exon 2 of CRYGD.• CONCLUSION: Our result demonstrates that a heterozygous mutation of CRYGD is responsible for the autosomal dominant congenital coralliform cataract in a three-generation Chinese pedigree.%目的:对一个珊瑚状先天性白内障家系进行致病基因的筛查。方法:采集家系中2例患者和1例正常对照者的外周静脉血,提取基因组DNA。选择与珊瑚状白内障相关的候选基因GJA3、GJA8、CRYGC及CRYGD设计引物,进行聚合酶链反应( PCR)扩增候选基因,并对扩增片段进行Sanger测序。结果:该家系疾病表型为珊瑚状白内障,呈常染色体显性遗传。通过对扩增产物测序,发现家系内患者CRYGD第2个外显子第70位有1个C>A碱基的杂合突变( c.70C>A),正常对照未见该点突变。结论:CRYGD基因的错义突变c.70C>A是该珊瑚状白内障家系的致病原因。

  19. Gaussian process style transfer mapping for historical Chinese character recognition

    Science.gov (United States)

    Feng, Jixiong; Peng, Liangrui; Lebourgeois, Franck

    2015-01-01

    Historical Chinese character recognition is very important to larger scale historical document digitalization, but is a very challenging problem due to lack of labeled training samples. This paper proposes a novel non-linear transfer learning method, namely Gaussian Process Style Transfer Mapping (GP-STM). The GP-STM extends traditional linear Style Transfer Mapping (STM) by using Gaussian process and kernel methods. With GP-STM, existing printed Chinese character samples are used to help the recognition of historical Chinese characters. To demonstrate this framework, we compare feature extraction methods, train a modified quadratic discriminant function (MQDF) classifier on printed Chinese character samples, and implement the GP-STM model on Dunhuang historical documents. Various kernels and parameters are explored, and the impact of the number of training samples is evaluated. Experimental results show that accuracy increases by nearly 15 percentage points (from 42.8% to 57.5%) using GP-STM, with an improvement of more than 8 percentage points (from 49.2% to 57.5%) compared to the STM approach.

  20. Mapping Chinese tallow with color-infrared photography

    Science.gov (United States)

    Ramsey, Elijah W.; Nelson, G.A.; Sapkota, S.K.; Seeger, E.B.; Martella, K.D.

    2002-01-01

    Airborne color-infrared photography (CIR) (1:12,000 scale) was used to map localized occurrences of the widespread and aggressive Chinese tallow (Sapium sebiferum), an invasive species. Photography was collected during senescence when Chinese tallow's bright red leaves presented a high spectral contrast within the native bottomland hardwood and upland forests and marsh land-cover types. Mapped occurrences were conservative because not all senescing tallow leaves are bright red simultaneously. To simulate low spectral but high spatial resolution satellite/airborne image and digital video data, the CIR photography was transformed into raster images at spatial resolutions approximating 0.5 in and 1.0 m. The image data were then spectrally classified for the occurrence of bright red leaves associated with senescing Chinese tallow. Classification accuracies were greater than 95 percent at both spatial resolutions. There was no significant difference in either forest in the detection of tallow or inclusion of non-tallow trees associated with the two spatial resolutions. In marshes, slightly more tallow occurrences were mapped with the lower spatial resolution, but there were also more misclassifications of native land covers as tallow. Combining all land covers, there was no difference at detecting tallow occurrences (equal omission errors) between the two resolutions, but the higher spatial resolution was associated with less inclusion of non-tallow land covers as tallow (lower commission error). Overall, these results confirm that high spatial (???1 m) but low spectral resolution remote sensing data can be used for mapping Chinese tallow trees in dominant environments found in coastal and adjacent upland landscapes.

  1. Chinese adolescents' perceptions of family functioning: personal, school-related, and family correlates.

    Science.gov (United States)

    Shek, Daniel T L

    2002-11-01

    The author used two translated measures (Self-Report Family Inventory; D. T. L. Shek, 1998); and Family Assessment Device; N. B. Epstein, L. M. Baldwin, & D. S. Bishop, 1983) and a locally developed scale (Chinese Family Assessment Instrument; D. T. L. Shek, in press-a) to assess 3,649 Chinese adolescents' perceptions of how well their families function. He found that boys perceived their families to function worse than did girls and that younger adolescents perceived their families to function better than did older adolescents. Perceived family functioning was negatively related to grade level; students attending schools with higher academic standards perceived their families to function better than did students attending schools with lower academic standards; and students attending government and aided schools had higher levels of family functioning than did students attending private schools. Family types (intact vs. nonintact families) and the duration of parents' stay in Hong Kong were also related to the adolescents' perceptions of family functioning. Findings for the personal, school-related, and family correlates of perceived family functioning were statistically significant and stable across different measures of family functioning, but the practical significance of the findings was not high.

  2. 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…

  3. Cultural influences on parental bereavement in Chinese families.

    Science.gov (United States)

    Ho, Sio-Wa; Brotherson, Sean E

    2007-01-01

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

  4. 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.

  5. 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.

  6. 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…

  7. 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.

  8. The powerful map of transnational families

    DEFF Research Database (Denmark)

    Schmidt, Garbi

    2011-01-01

    attachment. This article, by seeing space as inherently relational, discusses the fields within which families establish themselves and move transnationally. Transnational family spaces are, for example, arenas where young people meet and where marriages are arranged. This article includes the life...... and marriage stories of two individuals who have married transnationally, based on their family relationships, and further analyses how these marriages are element in the practices that families engage in to uphold a sense of closeness - an endeavour that is sometimes successful, sometimes not. Finally...

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

    Science.gov (United States)

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

    2015-05-01

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

  10. 3个单纯型发作性运动诱发性运动障碍家系的致病基因定位%Mapping of the gene responsible for pure paroxysmal kinesigenic dyskinesia in three Chinese Han families

    Institute of Scientific and Technical Information of China (English)

    陈素琴; 王一鸣; 李洵桦; 梁秀龄; 周珏倩; 方莹莹

    2011-01-01

    目的 在3个中国汉族单纯型发作性运动诱发性运动障碍(paroxysmall kinesigenic dyskinesia,PKD)家系中确定其疾病基因所在区域.方法 在已知的PKD连锁区域16p12.2-q22.3选取14个微卫星遗传标记对37位家庭成员进行基因分型,用Linkage和Genehunter等软件进行连锁分析并构建疾病单倍型.结果 连锁分析及单倍型分析将致病基因定位于D16S3133~D16S3044(16p12.1-q12.1)之间11.2 cM的区域.结论 3个汉族单纯型PKD家系的致病基因被定位于D16S3133~D16S3044(16p12.1-q12.1)之间,与最初的婴儿惊厥及阵发性舞蹈手足徐动症(infantile convulsions and paroxysmal clboreoathetosis,ICCA)的位点重叠.%Objective To map the gene responsible for pure paroxysmal kinesigenic dyskinesia in three Chinese Han families. Methods Fourteen microsatellite markers flanking 16pl2.2-q22.3 were selected for genotyping in 37 family members. Parameter and non-parameter analysis were performed using Linkage and Genehunter softwares and haplotypes were constructed. Results A maximum two-lod score 2.97 at D16S3080 (θ = 0) and 2.53 at D16S3068 (θ = 0) were obtained when penetrance set to 0.7. A maximum multi-lod score 2.75 and maximum NPL score 3.85 (P = 0.002) were obtained at D16S3068-D16S3131. Haplotype analysis localized PKD to the region D16S3133 - D16S3044 (16p12.1-q12.1). Conclusions The gene responsible for PKD in three Chinese Han families was mapped to 16p12.1-q12.1, which was the same as the original ICCA (infantile convulsions and paroxysmal choreoathetosis) region.

  11. 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.

  12. Supporting Family Engagement in Home Visiting with the Family Map Inventories

    Science.gov (United States)

    Kyzer, Angela; Whiteside-Mansell, Leanne; McKelvey, Lorraine; Swindle, Taren

    2016-01-01

    The purpose of this study was to examine the feasibility and usefulness of a universal screening tool, the Family Map Inventory (FMI), to assess family strengths and needs in a home visiting program. The FMI has been used successfully by center-based early childcare programs to tailor services to family needs and build on existing strengths. Home…

  13. 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…

  14. 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…

  15. 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…

  16. Mutation Analysis of HTRA2 Gene in Chinese Familial Essential Tremor and Familial Parkinson's Disease.

    Science.gov (United States)

    He, Ya-Chao; Huang, Pei; Li, Qiong-Qiong; Sun, Qian; Li, Dun-Hui; Wang, Tian; Shen, Jun-Yi; Du, Juan-Juan; Cui, Shi-Shuang; Gao, Chao; Fu, Rao; Chen, Sheng-Di

    2017-01-01

    Background. HTRA2 has already been nominated as PARK13 which may cause Parkinson's disease, though there are still discrepancies among these results. Recently, Gulsuner et al.'s study found that HTRA2 p.G399S is responsible for hereditary essential tremor and homozygotes of this allele develop Parkinson's disease by examining a six-generation family segregating essential tremor and essential tremor coexisting with Parkinson's disease. We performed this study to validate the condition of HTRA2 gene in Chinese familial essential tremor and familial Parkinson's disease patients, especially essential tremor. Methods. We directly sequenced all eight exons, exon-intron boundaries, and part of the introns in 101 familial essential tremor patients, 105 familial Parkinson's disease patients, and 100 healthy controls. Results. No exonic variant was identified, while one exon-intron boundary variant (rs2241028) and one intron variant (rs2241027) were detected, both with no clinical significance and uncertain function. There was no difference in allele, genotype, and haplotype between groups. Conclusions. HTRA2 exonic variant might be rare among Chinese Parkinson's disease and essential tremor patients with family history, and HTRA2 may not be the cause of familial Parkinson's disease and essential tremor in China.

  17. Family Care Map: Sustaining family-centered care in Polytrauma Rehabilitation Centers

    Directory of Open Access Journals (Sweden)

    James H. Ford II, PhD

    2015-01-01

    Full Text Available The study assessed sustainability of the Family Care Map, a family-centered approach to providing care for Veterans with polytrauma-related injuries, in four Department of Veterans Affairs Polytrauma Rehabilitation Centers. We applied a mixed-methods approach. Staff surveys used standardized measures of sustainability, commitment to change, information, and participation during implementation. Qualitative inquiry assessed Family Care Map implementation and facilitators and barriers to sustainability. Staff sustainability perceptions had a significant positive correlation with affective commitment to change, participation, and information received about the change process. Family Care Map integration into standard practices and use of its concepts with patients and families related to staff perceptions about sustainability. The degree of use and integration of the Family Care Map in traumatic brain injury/polytrauma care varied among the Polytrauma Rehabilitation Centers. Some successful sustainability strategies included integration into daily workflow and organizational culture. Examples of sustainability barriers included staff awareness and use and outdated information. Some practices, such as measuring and documenting the use of the Family Care Map in treatment plans, may not routinely occur. The focus on family-centered care will require further evaluation of organization-, staff-, and innovation-level attributes that influence sustainability of changes designed to improve family-centered care.

  18. Family care map: Sustaining family-centered care in Polytrauma Rehabilitation Centers.

    Science.gov (United States)

    Ford, James H; Wise, Meg; Krahn, Dean; Oliver, Karen Anderson; Hall, Carmen; Sayer, Nina

    2014-01-01

    The study assessed sustainability of the Family Care Map, a family-centered approach to providing care for Veterans with polytrauma-related injuries, in four Department of Veterans Affairs Polytrauma Rehabilitation Centers. We applied a mixed-methods approach. Staff surveys used standardized measures of sustainability, commitment to change, information, and participation during implementation. Qualitative inquiry assessed Family Care Map implementation and facilitators and barriers to sustainability. Staff sustainability perceptions had a significant positive correlation with affective commitment to change, participation, and information received about the change process. Family Care Map integration into standard practices and use of its concepts with patients and families related to staff perceptions about sustainability. The degree of use and integration of the Family Care Map in traumatic brain injury/polytrauma care varied among the Polytrauma Rehabilitation Centers. Some successful sustainability strategies included integration into daily workflow and organizational culture. Examples of sustainability barriers included staff awareness and use and outdated information. Some practices, such as measuring and documenting the use of the Family Care Map in treatment plans, may not routinely occur. The focus on family-centered care will require further evaluation of organization-, staff-, and innovation-level attributes that influence sustainability of changes designed to improve family-centered care.

  19. Fixed-point theorems for families of weakly non-expansive maps

    Science.gov (United States)

    Mai, Jie-Hua; Liu, Xin-He

    2007-10-01

    In this paper, we present some fixed-point theorems for families of weakly non-expansive maps under some relatively weaker and more general conditions. Our results generalize and improve several results due to Jungck [G. Jungck, Fixed points via a generalized local commutativity, Int. J. Math. Math. Sci. 25 (8) (2001) 497-507], Jachymski [J. Jachymski, A generalization of the theorem by Rhoades and Watson for contractive type mappings, Math. Japon. 38 (6) (1993) 1095-1102], Guo [C. Guo, An extension of fixed point theorem of Krasnoselski, Chinese J. Math. (P.O.C.) 21 (1) (1993) 13-20], Rhoades [B.E. Rhoades, A comparison of various definitions of contractive mappings, Trans. Amer. Math. Soc. 226 (1977) 257-290], and others.

  20. 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

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

    Science.gov (United States)

    Wang, Chenggang; Liu, Dan

    2006-01-01

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

  2. Genome-wide identification, classification, and analysis of heat shock transcription factor family in Chinese cabbage (Brassica rapa pekinensis).

    Science.gov (United States)

    Huang, X Y; Tao, P; Li, B Y; Wang, W H; Yue, Z C; Lei, J L; Zhong, X M

    2015-03-27

    Chinese cabbage (Brassica rapa ssp. pekinensis) is one of the most important vegetable crops grown worldwide, and various methods exist for selection, propagation, and cultivation. The entire Chinese cabbage genome has been sequenced, and the heat shock transcription factor family (Hsfs) has been found to play a central role in plant growth and development and in the response to biotic and abiotic stress conditions, particularly in acquired thermotolerance. We analyzed heat tolerance mechanisms in Chinese cabbage. In this study, 30 Hsfs were identified from the Chinese cabbage genome database. The classification, phylogenetic reconstruction, chromosome distribution, conserved motifs, expression analysis, and interaction networks of the Hsfs were predicted and analyzed. Thirty BrHsfs were classified into 3 major classes (class A, B, and C) according to their structural characteristics and phylogenetic comparisons, and class A was further subdivided into 8 subclasses. Distribution mapping results showed that Hsf genes were located on 10 Chinese cabbage chromosomes. The expression profile indicated that Hsfs play differential roles in 5 organs in Chinese cabbage, and likely participate in the development of underground parts and regulation of reproductive growth. An orthologous gene interaction network was constructed, and included MBF1C, ROF1, TBP2, CDC2, and HSP70 5 genes, which are closely related to heat stress. Our results contribute to the understanding of the complexity of Hsfs in Chinese cabbage and provide a basis for further functional gene research.

  3. 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…

  4. 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…

  5. A novel mutation of KCNQ3 gene in a Chinese family with benign familial neonatal convulsions.

    Science.gov (United States)

    Li, Haiyan; Li, Nan; Shen, Lu; Jiang, Hong; Yang, Qian; Song, Yanmin; Guo, Jifeng; Xia, Kun; Pan, Qian; Tang, Beisha

    2008-03-01

    Benign familial neonatal convulsions (BFNC, also named benign familial neonatal seizures, BFNS) is a rare autosomal dominant inherited epilepsy syndrome with clinical and genetic heterogeneity. Two voltage-gated potassium channel subunit genes, KCNQ2 and KCNQ3, have been identified to cause BFNC1 and BFNC2, respectively. To date, only three mutations of KCNQ3, all located within exon 5, have been reported. By limited linkage analysis and mutation analysis of KCNQ3 in a Chinese family with BFNC, we identified a novel missense mutation of KCNQ3, c.988C>T located within exon 6. c.988C>T led to the substitution Cys for Arg in amino acid position 330 (p.R330C) in KCNQ3 potassium channel, which possibly impaired the neuronal M-current and altered neuronal excitability. Seizures of all BFNC patients started from day 2 to 3 after birth and remitted during 1 month, and no recurrence was found. One family member who displayed fever-associated seizures for two times at age 5 years and was diagnosed as febrile seizures, however, did not carry this mutation, which suggests that febrile seizures and BFNC have different pathogenesis. To our knowledge, this is the first report of KCNQ3 mutation in Chinese family with BFNC.

  6. QTL Mapping for Quality Traits of Chinese Dry Noodle

    Institute of Scientific and Technical Information of China (English)

    ZHAO Jing-lan; CHEN Min-sheng; MA Yan-ming; LI Rui-jun; REN Yong-pan; SUN Qing-quan; LI Si-shen

    2009-01-01

    The QTLs for quality traits of Chinese dry noodle(CDN)were mapped based on a population of recombinant inbred lines(RILs)derived from the cross between two Chinese winter wheat varieties,Chuan 35050 and Shannong 483.Sensory quality traits of CDN were tested according to the standard of Ministry of Commerce of P.R.China(SB/T10137-93),and the textural property traits were detected using a texture analyser(TA.XTplus).We have obtained 8 putative QTLs for 6 sensory quality traits and 2 QTLs for textural property of CDN with a single QTL explainning 4.07-75.67% of phenotypic variations on chromosomes 1A,1D,3D,4A,and 6D.A duster of 3 QTLs for palate,elasticity and smoothness of CDN was found near the Glu-D1 locus on chromosome 1D with high contributions.The increasing effect come from Chuan 35050,and the relationship between the QTLs were positive.On chromosome 4A,co-location QTLs for stickiness and total score were detected in the region of Xwmc420-Xswes620-Xswes615.Their contributions were high and the increasing effects come from Shannong 483.A taste QTL QStas.sdau-4A.1 was obtained in Xsrap18-Xswes624c-Xissr25b-Xissr23b on chromosome 4A with the highest contribution of 75.67%.This QTL was a major gene and the increasing effects come from Shannong 483.

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

    Science.gov (United States)

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

    1994-10-01

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

  8. Rewriting the history of Chinese families in nineteenth-century Australia.

    Science.gov (United States)

    Bagnall, Kate

    2011-01-01

    The nineteenth-century Chinese population in Australia was made up mostly of men, drawing many commentators to the conclusion these men faced an absence of family life, resulting in prostitution, gambling, opium use and other so-called vices. Recent research has, however, expanded and complicated our knowledge of Chinese families in New South Wales and Victoria, particularly concerning the extent to which Chinese men and white Australian women formed intimate relationships. This article traces the origins of the misconceptions about Chinese families in nineteenth-century Australia, and considers how new directions in scholarship over the past decade are providing methods for enlarging our knowledge. It argues that instead of being oddities or exceptions, Chinese-European families were integral to the story of Australia's early Chinese communities.

  9. 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.

  10. The Limits of Some Infinite Families of Complex Contracting Mappings

    Science.gov (United States)

    Pagon, Dušan

    2008-11-01

    Self-similarity is strongly presented in modern mathematics and physics. We study a broad class of planar fractals—strongly self-similar sets of points in complex plane, obtained from a unit interval as geometric limits of certain infinite families of contracting mappings. Different 1-1 correspondences between the constructed set and the initial unit interval are established.

  11. Ergodic Retractions for Families of Asymptotically Nonexpansive Mappings

    Directory of Open Access Journals (Sweden)

    Saeidi Shahram

    2010-01-01

    Full Text Available We prove some theorems for the existence of ergodic retractions onto the set of common fixed points of a family of asymptotically nonexpansive mappings. Our results extend corresponding results of Benavides and Ramírez (2001, and Li and Sims (2002.

  12. 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 .

  13. Family influence on volunteering intention and behavior among Chinese adolescents in Hong Kong.

    Science.gov (United States)

    Law, Ben M F; Shek, Daniel T L

    2009-01-01

    Based on the responses of 5,946 adolescents (mean age = 14.77), the relationships among family influence, adolescents' volunteering intention, and volunteering behavior in a Chinese context were examined. A 9-item Chinese Family Influence on Adolescent Volunteerism Scale (C-FIAV) was used to measure nine kinds of influence of the family (such as family support) which could be subsumed under two underlying domains (positive family influence and extrinsic family influence). Results showed that family support, family belief, and family modeling were positively associated with both intention and behavior. Family reward and coercion were negatively associated with both intention and behavior. Family belief in volunteerism was the most critical factor. Grade and gender differences were found only in the associations between family influence and volunteering intention. Path models showed that positive and extrinsic family influence had an effect on volunteering behavior directly or via the mediation of volunteering intention. Implications and limitations are discussed.

  14. BRCA1 Gene Mutations in Chinese Families with Breast Cancer

    Institute of Scientific and Technical Information of China (English)

    Yurong Shi; Chenbin Li; Ruifang Niu; Xishan Hao; Xiangcheng Zhi; Liansheng Ning

    2005-01-01

    OBJECTIVE To investigate the frequency of BRCA1 gene mutations in breast cancer families in China.METHODS Genomic DNA was obtained by conventional techniques from the peripheral blood mononuclear cells collected from 94 persons derived from 45 breast cancer families. All participants gave written informed consent. The mutations in the BRCA1 gene were detected by the polymerase chain reaction and single stranded conformation polymorphism(PCR-SSCP). Then , the samples of interest were sent for direct DNA sequencing.RESULTS No mutation sites were found in exon 2 or 20 by DNA sequencing.Eight sites were found in exon 11 such as 2201C>T (Ser694Ser),3232A>G(Glu 1038Gly), 2201C >A/G (Ser694Arg), 2731C >T (Pro871Leu),2086A >T(Asn591lle) and three sites of 1584G>T (Glu424Stop). Three mutation sites were found in exon 16 which included 5106A >G (Met1663Val),5208delT(Stop 1639) and 4956A>G (Ser 1613Gly).CONCLUSION These mutation sites may be related to breast cancer, but more investigation is needed to determine whether the mutation sites are hot spots of mutations in Chinese familial breast cancer patients.

  15. Treatment Efficacy of Multiple Family Therapy for Chinese Families of Children with Attention Deficit Hyperactivity Disorder.

    Science.gov (United States)

    Ma, Joyce L C; Lai, Kelly Y C; Xia, Lily Li Li

    2017-05-30

    The treatment efficacy of multiple family therapy (MFT) for Chinese families of children with attention deficit hyperactivity disorder (ADHD) has not been studied in the past. In this paper, the effect of MFT on different aspects of the lives of the parents in the experimental group (n = 61) was compared with the effect of only the psychoeducational talks on parents in the control group (n = 53). The results of a MANOVA have shown that by the time they reached the posttreatment phase, the parents who had completed the full 42 hours of the MFT program perceived their children's ADHD symptoms as being less serious and less pathological than they had originally thought compared to the parents in the control group. The effect of MFT on parent-child relationships, parenting stress, parental efficacy, hope, and perceived social support was statistically insignificant. Contributions and limitations of our study are discussed. © 2017 Family Process Institute.

  16. 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.

  17. A longitudinal study of family obligation and depressive symptoms among Chinese American adolescents.

    Science.gov (United States)

    Juang, Linda P; Cookston, Jeffrey T

    2009-06-01

    The purpose of this 2-year, 3-wave longitudinal study of Chinese American adolescents was to examine how family obligation behaviors and attitudes change over time; how gender, nativity, and birth order predict these trajectories; and whether family obligation relates to depressive symptoms. Findings suggest that family obligation behaviors decreased over the 2-year period but that family obligation attitudes were stable. Moreover, foreign-born adolescents reported higher levels of family obligation behavior than U.S.-born adolescents, and firstborn adolescents reported higher family obligation attitudes than laterborn adolescents. There were no gender differences in family obligation behaviors or attitudes. The findings also suggest that initial higher levels of family obligation were associated with subsequently fewer depressive symptoms. Finally, changes in family obligation behaviors related to changes in depressive symptoms over time such that increasing family obligation behaviors related to decreasing depressive symptoms. The results highlight the importance of understanding the role of family obligation to Chinese American adolescents' mental health.

  18. Mutations analysis of STK11 ene in Chinese families with Peutz-Jeghers syndrome

    Institute of Scientific and Technical Information of China (English)

    2003-01-01

    Peutz-Jeghers syndrome (PJS) is an autosomal dominantly inherited disease characterized by multiple gastrointestinal hamartomatous polyps and melanin spots on lips and buccal mucosa, with an increased risk for various cancers. ThePJS gene, a potential tumour suppressor gene, encoding a serine/ threonie kinase (STK11), was mapped to chromosome 19p13.3. To investigate the mutations of STK11 gene in Chinese with PJS, we analyzed its coding sequence in fifteen patientsand twenty unaffected members of six families, including three multigenerational families with PJS and three sporadic families with PJS, by PCR, PCR-DHPLC and DNA sequencing techniques. Ten point mutations were found in the six families, including five missense mutations, one acceptor-splice site mutation, a nonsense mutation and three silent mutations. Our data showed that five missense mutations occurrd at codon 123 (CAG to CAT) in exon 2, codon 161 (ATT to AGT) in exon 4,codon 194 (GAC to GAG) in exon 4, codon 245 (CTC to TTC) in exon 5 and codon 354 (TTC to TTG) in exon 8. One kind of nonsense mutation was detected at codon 37(CAG to TAG) in exon 1. Furthermore, we found an intronic mutation at a splice-acceptor site: a one base substitution from AG to AA in intron 4. These mutations were not detected in 20 normal DNA samples. In three sporadic families, only in one patient, we detected a missense mutation in exon 5. In addition, we found three silent mutations, which may cause polymorphisms of STK11 gene in introns 1(+36), 3(-51) and 5(+27). These results indicated that the point mutation in STK11 might be involved in PJS pathogenesis. Mutation frequency is higher in the families suffering PJS in three or more generations than that of the sporadic cases.

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

    Directory of Open Access Journals (Sweden)

    Ju Rong

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

  20. 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.

  1. 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…

  2. 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…

  3. Weak convergence theorems for a countable family of Lipschitzian mappings

    Science.gov (United States)

    Nilsrakoo, Weerayuth; Saejung, Satit

    2009-08-01

    This paper is concerned with convergence of an approximating common fixed point sequence of countable Lipschitzian mappings in a uniformly convex Banach space. We also establish weak convergence theorems for finding a common element of the set of fixed points, the set of solutions of an equilibrium problem, and the set of solutions of a variational inequality. With an appropriate setting, we obtain and improve the corresponding results recently proved by Moudafi [A. Moudafi, Weak convergence theorems for nonexpansive mappings and equilibrium problems. J. Nonlinear Convex Anal. 9 (2008) 37-43], Tada-Takahashi [A. Tada and W. Takahashi, Weak and strong convergence theorems for a nonexpansive mapping and an equilibrium problem. J. Optim. Theory Appl. 133 (2007) 359-370], and Plubtieng-Kumam [S. Plubtieng and P. Kumam, Weak convergence theorem for monotone mappings and a countable family of nonexpansive mappings. J. Comput. Appl. Math. (2008) doi:10.1016/j.cam.2008.05.045]. Some of our results are established with weaker assumptions.

  4. SNP haplotype mapping in a small ALS family.

    Directory of Open Access Journals (Sweden)

    Katherine A Dick Krueger

    Full Text Available The identification of genes for monogenic disorders has proven to be highly effective for understanding disease mechanisms, pathways and gene function in humans. Nevertheless, while thousands of Mendelian disorders have not yet been mapped there has been a trend away from studying single-gene disorders. In part, this is due to the fact that many of the remaining single-gene families are not large enough to map the disease locus to a single site in the genome. New tools and approaches are needed to allow researchers to effectively tap into this genetic gold-mine. Towards this goal, we have used haploid cell lines to experimentally validate the use of high-density single nucleotide polymorphism (SNP arrays to define genome-wide haplotypes and candidate regions, using a small amyotrophic lateral sclerosis (ALS family as a prototype. Specifically, we used haploid-cell lines to determine if high-density SNP arrays accurately predict haplotypes across entire chromosomes and show that haplotype information significantly enhances the genetic information in small families. Panels of haploid-cell lines were generated and a 5 centimorgan (cM short tandem repeat polymorphism (STRP genome scan was performed. Experimentally derived haplotypes for entire chromosomes were used to directly identify regions of the genome identical-by-descent in 5 affected individuals. Comparisons between experimentally determined and in silico haplotypes predicted from SNP arrays demonstrate that SNP analysis of diploid DNA accurately predicted chromosomal haplotypes. These methods precisely identified 12 candidate intervals, which are shared by all 5 affected individuals. Our study illustrates how genetic information can be maximized using readily available tools as a first step in mapping single-gene disorders in small families.

  5. The Relationship between Family Dynamics and Career Interests among Chinese Americans and European Americans

    Science.gov (United States)

    Leong, Frederick T. L.; Kao, Erika Ming-Chu; Lee, Szu-Hui

    2004-01-01

    The purpose of this study was to explore the ethnic differences in family dynamics and career interests of European Americans and Chinese Americans and how these dynamics--cohesion, expressiveness, and conflict--influence one's career interests. Significant ethnic differences in career interests were found. The Chinese Americans' highest career…

  6. 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…

  7. 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…

  8. 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…

  9. All in the Family?--Translating Names and Honorifics in Chinese Fiction.

    Science.gov (United States)

    Hung, Eva

    1993-01-01

    Notes that the practice of borrowing kinship terms to address people outside the extended Chinese families, heavily reflected in modern Chinese fiction, causes much difficulty for the English translator. Reviews common translation approaches to such culture-related problems and possible distortions resulting from such practices. (NKA)

  10. Refined mapping of loss of heterozygosity in Chinese sporadic ...

    African Journals Online (AJOL)

    GREGORY

    2010-08-30

    Aug 30, 2010 ... clinical markers in Chinese sporadic gastric cancer. Key words: Gastric .... Examples of microsatellites figures determined by Genemapper 3.2 program. (A) Informative cases .... ocular adnexa and salivary glands.J Pathol ...

  11. 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 con...

  12. 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...

  13. Fine Mapping QTLs Affecting Milk Production Traits on BTA6 in Chinese Holstein with SNP Markers

    Institute of Scientific and Technical Information of China (English)

    LIU Rui; SUN Dong-xiao; WANG Ya-chun; YU Ying; ZHANG Yi; CHEN Hui-yong; ZHANG Qin; ZHANG Sheng-li; ZHANG Yuan

    2013-01-01

    Our previous studies demonstrated that the region around markers BMS470 and BMS1242 on BTA6 showed a linkage to 305-d milk yield and composition traits in the Chinese Holstein population. We herein focused on such narrow region to fine map milk production QTLs with 15 SNPs across 25 Mb with each SNP in 1 Mb within most regions in a Chinese Holstein population with daughter design. 1 449 Holstein cows and 11 sires were genotyped for such SNPs by using TaqMan probe and RFLP assays. Multipoint linkage analysis across family revealed a QTL affecting milk yield between PPARGC1A C4075T and SLC34A2 T1713C. Meanwhile, within family analysis found three milk yield QTLs (two in CR T60984131G-CEP135 C501T and one in PDLIM5 A106C-OPN T3907, a fat yield QTL in UGDH T1670C-CR T60984131G region, and two protein yield QTLs in TBC1D1 G501C-UGDH T1670C and PPARGC1A C4075T-SLC34A2 T1713C, respectively. Associations between aforementioned significant SNP markers and milk production traits were further implemented. We found significant associations of PPARGC1A C4075T, SLC34A2 T1713C with milk yield (P<0.05, P<0.01, P<0.01), UGDH T1670C, and CR T60984131G with fat yield (P<0.01, P<0.01), and PPARGC1A C4075T, SLC34A2 T1713C, UGDH T1670C and OPN T3907 with protein yield (P<0.01, P<0.01, P<0.01, P<0.01). Our findings implied that QTLs affecting milk production traits on BTA6 were pleictropism or multigenic effect and PPARGC1A and OPN may be the causal mutations behind milk production QTLs on BTA6 in the Chinese Holstein population.

  14. 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.

  15. 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.

  16. Doing Ethnographic Research in Chinese Families - Reflections on Methodological Concerns from Two Asian Cities

    Directory of Open Access Journals (Sweden)

    Esther Chor Leng Goh

    2011-09-01

    Full Text Available This paper compares and contrasts the ethnographic practices of two non-native researchers - a Singaporean researcher studying families in mainland China and a Swedish researcher studying Chinese families in Singapore. A novel conceptual frame of ‘radius of observation positions’ has been proposed to explicate the extent of intrusion and intimacy to which researchers may venture in the private family domain. The opportunities and challenges of two positions of observation within this radius are discussed. The choice of position is largely influenced by the interacting forces of the contextual and cultural factors as well as the personhood of the researcher. The authors call for special attention to cultural sensitivity in conducting Chinese family research. Families are embedded in culture, and the possibility of accessing family spaces hinges on one's awareness of the intricacies of family cultures and realistic assessment of one's strengths and limitations in handling complex family dynamics.

  17. Antecedents and outcomes of a fourfold taxonomy of work-family balance in Chinese employed parents.

    Science.gov (United States)

    Lu, Jia-Fang; Siu, Oi-Ling; Spector, Paul E; Shi, Kan

    2009-04-01

    The study provided validity evidence for a fourfold taxonomy of work-family balance that comprises direction of influence (work to family vs. family to work) and types of effect (work-family conflict vs. work-family facilitation). Data were collected from 189 employed parents in China. The results obtained from a confirmatory factor analysis supported the factorial validity of the fourfold taxonomy of work-family balance with a Chinese sample. Child care responsibilities, working hours, monthly salary, and organizational family-friendly policy were positively related to the conflict component of work-family balance; whereas new parental experience, spouse support, family-friendly supervisors and coworkers had significant positive effects on the facilitation component of work-family balance. In comparison with the inconsistent effects of work-family conflict, work to family facilitation had consistent positive effects on work and life attitudes. The implications of findings in relation to China and other countries are discussed in the paper.

  18. Coping with economic disadvantage. A qualitative study of Chinese adolescents from low-income families.

    Science.gov (United States)

    Lam, Ching Man; Lam, Mong Chow; Shek, Daniel T L; Tang, Vera M Y

    2004-01-01

    Using a qualitative approach, this paper examines how Chinese adolescents from low-income families cope with economic disadvantage. Thirty-five in-depth one-to-one interviews with twelve adolescents from economically disadvantaged families were conducted. The findings of the study revealed that, although the participants were growing up poor, they do not have a strong sense of poverty, or have a negative perception on poverty. Some of them even attached a positive meaning to their experience of poverty. The accounts of the adolescents revealed that there were personal (low sense of poverty), familial (support from parents and siblings), cultural (cultural interpretation on poverty) and contextual (unclear poor neighborhood boundary, weak poverty subculture) protective factors that promoted adolescent developmental resilience. The study results highlighted the distinct Chinese pattern of socialization and the impacts of Chinese cultural beliefs on poor families. The findings also illustrate the prominent role of family in helping adolescents cope with economic disadvantage.

  19. Clinicopathological and molecular genetic analysis of 4 typical Chinese HNPCC families

    Institute of Scientific and Technical Information of China (English)

    Qi Cai; Meng-Hong Sun; Hong-Fen Lu; Tai-Ming Zhang; Shan-Jing Mo; Ye Xu; San-Jun Cai; Xiong-Zeng Zhu; Da-Ren Shi

    2001-01-01

    AIM: To study the clinicopathological and molecular genetic characteristics of typical Chinese hereditary nonpolyposis cotorectal cancer (HNPCC) families. METHODS: Four typical Chinese HNPCC families were analyzed using microdissection, microsatellite instability analysis, immunostaining of hMSH2 and hMLH1 proteins and direct DNA sequencing of hMSH2 and hMLH1 genes. RESULTS: All five tumor tissues of 4 probands from the 4typical Chinese HNPCC families showed microsatellite instability at more than two loci (MSI-H or RER +phenotype). Three out of the 4 cases lost hMSH2 protein expression and the other case showed no hMLH1 protein expression. Three pathological germline mutations (2 in hMSH2 and 1 in hMLH1 ), which had not been reported previously, were identified. The same mutations were also found in otler affected members of two HNPCC families,respectively. CONCLUSION: Typical Chinese HNPCC families showed relatively frequent germline mutation of mismstch repair genes. High-level microsateliita instability and loss of expression of mismatch repair genes correlated closely with germline mutation of mismatch repair genes. Microsatellite instability analysis and immunostaining of miamstch repair gens might serve as effective screening methods before direct DNA sequencing. It is necessary to establish clinical criteria and molecular diagnostic strategies more suitable for Chinese HNPCC families.

  20. 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

  1. Reasoning and Negotiation about Child Responsibility in Urban Chinese Families: Reports from Mothers, Fathers and Children

    Science.gov (United States)

    Bowes, Jennifer M.; San, Li Qing; Chen, May-Jane; Yuan, Li

    2004-01-01

    The study investigates everyday parental practices involved in the transmission of cultural values and extends current literature on parenting in Chinese families. Children aged 6, 8, and 10 years from 240 Beijing families, and both their parents, were asked about ways in which expectations of child responsibility are transmitted through routine…

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

    Science.gov (United States)

    Benner, Aprile D.; Kim, Su Yeong

    2010-01-01

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

  3. A Longitudinal Study of Perceived Family Functioning and Adolescent Adjustment in Chinese Adolescents With Economic Disadvantage

    Science.gov (United States)

    Shek, Daniel T. L.

    2005-01-01

    This longitudinal study examines the relationships between perceived family functioning and adolescent psychological well-being and problem behavior in Chinese adolescents with economic disadvantage (N = 199). Results showed that perceived family functioning was concurrently related to measures of adolescent psychological well-being (existential…

  4. 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…

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

    Science.gov (United States)

    Benner, Aprile D.; Kim, Su Yeong

    2010-01-01

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

  6. 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.…

  7. The Road Map for Top 500 Chinese Private Enterprises

    Institute of Scientific and Technical Information of China (English)

    李魁

    2007-01-01

    Since 1998,the Economy Department of All-China Federation of Industry & Commerce (ACFIC) have been carrying out an annual nationwide survey on private enterprises . By the end of 2006, seven surveys have been completed . Based on these survey results, this article analyzed the development situation of top 500 Chinese private enterprises in terms of scale and efficiency,income distribution,regional distribution,industrial distribution and professional distribution,and proposed suggestions on their development.

  8. Family Material Hardship and Chinese Adolescents’ Problem Behaviors: A Moderated Mediation Analysis

    OpenAIRE

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

    2015-01-01

    In the current study, we examined a moderated mediation model using the risk and resilience framework. Specifically, the impact of family material hardship on adolescent problem behaviors was examined in a Chinese sample; we used the family stress model framework to investigate parental depression and negative parenting as potential mediators of the relation between family material hardship and adolescents' problem behaviors. In addition, based on resilience theory, we investigated adolescent...

  9. The experiences and perceptions of family planning of female Chinese asylum seekers living in the UK.

    Science.gov (United States)

    Verran, Alice; Evans, Sarah; Lin, Daniel J; Griffiths, Frances

    2015-04-01

    Chinese family planning policy is unique. There is limited sex education and the state is highly influential. This has resulted in extremely wide coverage of contraception with long-acting methods being favoured. The Chinese constitute a large proportion of asylum applicants to the UK. This study examines how their experiences and decisions about family planning in the UK are shaped by their cultural background. Data were drawn from 10 semi-structured qualitative interviews with female Chinese asylum seekers recruited through a family planning clinic in the UK. The increased autonomy provided by the UK system was appreciated by the participants. Choice of contraceptive method was influenced by traditional cultural beliefs and values, and the effect of hormonal contraception on menstruation was particularly concerning. Women arrived from China with little knowledge of contraception. Friends from a similar background were the most trusted source of advice. When transitioning from China to the UK unwanted pregnancies had occurred amongst unmarried women who had missed out on sex education while living in China. Chinese societal and cultural practices continue to influence family planning decisions made within the UK. Culturally competent health strategies are needed to ensure Chinese immigrant women fully benefit from family planning within the UK. Published by the BMJ Publishing Group Limited. For permission to use (where not already granted under a licence) please go to http://group.bmj.com/group/rights-licensing/permissions.

  10. 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

  11. Cultural and Family Challenges to Managing Type 2 Diabetes in Immigrant Chinese Americans

    OpenAIRE

    2009-01-01

    OBJECTIVE Although Asians demonstrate elevated levels of type 2 diabetes, little attention has been directed to their unique cultural beliefs and practices regarding diabetes. We describe cultural and family challenges to illness management in foreign-born Chinese American patients with type 2 diabetes and their spouses. RESEARCH DESIGN AND METHODS This was an interpretive comparative interview study with 20 foreign-born Chinese American couples (n = 40) living with type 2 diabetes. Multiple ...

  12. Metaphorical mapping between raw-cooked food and strangeness-familiarity in Chinese culture.

    Science.gov (United States)

    Deng, Xiaohong; Qu, Yuan; Zheng, Huihui; Lu, Yang; Zhong, Xin; Ward, Anne; Li, Zijun

    2017-02-01

    Previous research has demonstrated metaphorical mappings between physical coldness-warmth and social distance-closeness. Since the concepts of interpersonal warmth are frequently expressed in terms of food-related words in Chinese, the present study sought to explore whether the concept of raw-cooked food could be unconsciously and automatically mapped onto strangeness-familiarity. After rating the nutritive value of raw or cooked foods, participants were presented with morphing movies in which their acquaintances gradually transformed into strangers or strangers gradually morphed into acquaintances, and were asked to stop the movies when the combined images became predominantly target faces. The results demonstrated that unconscious and automatic metaphorical mappings between raw-cooked food and strangeness-familiarity exist. This study provides a foundation for testing whether Chinese people can think about interpersonal familiarity using mental representations of raw-cooked food and supports cognitive metaphor theory from a crosslinguistic perspective.

  13. Joint-multiple family linkage analysis predicts within-family variation better than single-family analysis of the maize nested association mapping population.

    Science.gov (United States)

    Ogut, F; Bian, Y; Bradbury, P J; Holland, J B

    2015-06-01

    Quantitative trait locus (QTL) mapping has been used to dissect the genetic architecture of complex traits and predict phenotypes for marker-assisted selection. Many QTL mapping studies in plants have been limited to one biparental family population. Joint analysis of multiple biparental families offers an alternative approach to QTL mapping with a wider scope of inference. Joint-multiple population analysis should have higher power to detect QTL shared among multiple families, but may have lower power to detect rare QTL. We compared prediction ability of single-family and joint-family QTL analysis methods with fivefold cross-validation for 6 diverse traits using the maize nested association mapping population, which comprises 25 biparental recombinant inbred families. Joint-family QTL analysis had higher mean prediction abilities than single-family QTL analysis for all traits at most significance thresholds, and was always better at more stringent significance thresholds. Most robust QTL (detected in >50% of data samples) were restricted to one family and were often not detected at high frequency by joint-family analysis, implying substantial genetic heterogeneity among families for complex traits in maize. The superior predictive ability of joint-family QTL models despite important genetic differences among families suggests that joint-family models capture sufficient smaller effect QTL that are shared across families to compensate for missing some rare large-effect QTL.

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

    Science.gov (United States)

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

    2009-01-01

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

  15. 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

  16. 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.  

  17. 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.

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

    Institute of Scientific and Technical Information of China (English)

    1996-01-01

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

  19. Measuring the expressed emotion in Chinese family caregivers of persons with dementia: Validation of a Chinese version of the Family Attitude Scale.

    Science.gov (United States)

    Yu, Doris S F; Kwok, Timothy; Choy, Jacky; Kavanagh, David J

    2016-03-01

    Expressed emotion (EE) captures the affective quality of the relationship between family caregivers and their care recipients and is known to increase the risk of poor health outcomes for caregiving dyads. Little is known about expressed emotion in the context of caregiving for persons with dementia, especially in non-Western cultures. The Family Attitude Scale (FAS) is a psychometrically sound self-reporting measure for EE. Its use in the examination of caregiving for patients with dementia has not yet been explored. This study was performed to examine the psychometric properties of the Chinese version of the FAS (FAS-C) in Chinese caregivers of relatives with dementia, and its validity in predicting severe depressive symptoms among the caregivers. The FAS was translated into Chinese using Brislin's model. Two expert panels evaluated the semantic equivalence and content validity of this Chinese version (FAS-C), respectively. A total of 123 Chinese primary caregivers of relatives with dementia were recruited from three elderly community care centers in Hong Kong. The FAS-C was administered with the Chinese versions of the 5-item Mental Health Inventory (MHI-5), the Zarit Burden Interview (ZBI) and the Revised Memory and Behavioral Problem Checklist (RMBPC). The FAS-C had excellent semantic equivalence with the original version and a content validity index of 0.92. Exploratory factor analysis identified a three-factor structure for the FAS-C (hostile acts, criticism and distancing). Cronbach's alpha of the FAS-C was 0.92. Pearson's correlation indicated that there were significant associations between a higher score on the FAS-C and greater caregiver burden (r=0.66, p47 with a sensitivity of 0.720 (95% CI=0.506-0.879) and specificity of 0.742 (95% CI=0.643-0.826). The FAS-C is a reliable and valid measure to assess the affective quality of the relationship between Chinese caregivers and their relatives with dementia. It also has acceptable predictability in

  20. High prevalence of diabetes mellitus in a five-generation Chinese family with Huntington's disease.

    Science.gov (United States)

    Hu, Yueqing; Liang, Jingyao; Yu, Shengyuan

    2014-01-01

    Huntington's disease (HD) is associated with diabetes mellitus (DM) in population studies, but no case has been reported in a large HD family. We report a case of a five-generation Chinese family who is afflicted by both HD and DM. The prevalence of DM in HD of this family was high (72.7%). The diagnosis of HD in 11 family members was confirmed by the genetic test of the proband who had 42 CAG repeats. Furthermore, the proband's daughter had abnormal locus at G3460T in MT-ND1 among mtDNA genome. Our case report suggests a genetic link between HD and DM.

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

    Science.gov (United States)

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

    2012-12-01

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

  2. Factor Structure and Psychometric Properties of the Work-Family Balance Scale in an Urban Chinese Sample

    Science.gov (United States)

    Zhang, Huiping; Yip, Paul S. F.; Chi, Peilian; Chan, Kinsun; Cheung, Yee Tak; Zhang, Xiulan

    2012-01-01

    The purpose of this study was to explore the factor structure of the Work-Family Balance Scale (WFBS) and examine its reliability and validity in use in the urban Chinese population. The scale was validated using a sample of 605 urban Chinese residents from 7 cities. Exploratory factor analysis identified two factors: work-family conflict and…

  3. Identification of a New Lamin A/C Mutation in a Chinese Family Affected with Atrioventricular Block as the Prominent Phenotype

    Institute of Scientific and Technical Information of China (English)

    吴小艳; 王擎; 桂乐; 刘木根; 张贤钦; 金润铭; 李伟; 闫露; 杜戎; 王秋芬; 祝建芳; 杨钧国

    2010-01-01

    Even though mutations in LMNA have been reported in patients with typical dilated cardio-myopathy(DCM)and atrioventricular block(AVB)previously,the purpose of this study was to disclose this novel genetic abnormality in one Chinese family with the atypical phenotype of progressive AVB followed by DCM with normal QRS interval.Genome-wide linkage analysis mapped the AVB gene in this family to a marker at chromosome 1q21.2,where the LMNA gene was located.Direct DNA sequence analysis revealed a heterozygous G t...

  4. Enhanced genetic maps from family-based disease studies: population-specific comparisons

    Directory of Open Access Journals (Sweden)

    Buyske Steven

    2011-01-01

    Full Text Available Abstract Background Accurate genetic maps are required for successful and efficient linkage mapping of disease genes. However, most available genome-wide genetic maps were built using only small collections of pedigrees, and therefore have large sampling errors. A large set of genetic studies genotyped by the NHLBI Mammalian Genotyping Service (MGS provide appropriate data for generating more accurate maps. Results We collected a large sample of uncleaned genotype data for 461 markers generated by the MGS using the Weber screening sets 9 and 10. This collection includes genotypes for over 4,400 pedigrees containing over 17,000 genotyped individuals from different populations. We identified and cleaned numerous relationship and genotyping errors, as well as verified the marker orders. We used this dataset to test for population-specific genetic maps, and to re-estimate the genetic map distances with greater precision; standard errors for all intervals are provided. The map-interval sizes from the European (or European descent, Chinese, and Hispanic samples are in quite good agreement with each other. We found one map interval on chromosome 8p with a statistically significant size difference between the European and Chinese samples, and several map intervals with significant size differences between the African American and Chinese samples. When comparing Palauan with European samples, a statistically significant difference was detected at the telomeric region of chromosome 11p. Several significant differences were also identified between populations in chromosomal and genome lengths. Conclusions Our new population-specific screening set maps can be used to improve the accuracy of disease-mapping studies. As a result of the large sample size, the average length of the 95% confidence interval (CI for a 10 cM map interval is only 2.4 cM, which is considerably smaller than on previously published maps.

  5. Weak and strong convergence theorems for two finite families of asymptotically nonexpansive mappings in Banach spaces

    Directory of Open Access Journals (Sweden)

    Yan Hao, Xiaoshuang Wang, Aihua Tong

    2012-11-01

    Full Text Available In this paper,  an implicit iterative process with mixed errors for two finite family of asymptotically nonexpansive  mappings is considered. Weak and strong  convergence theorems for common fixed points of two finite family of asymptotically nonexpansive  mappings are established in a uniformly convex Banach space.

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

    Science.gov (United States)

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

    2007-12-01

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

  7. Family Processes and Suicidal Ideation among Chinese Adolescents in Hong Kong

    Directory of Open Access Journals (Sweden)

    Sylvia Y. C. L. Kwok

    2011-01-01

    Full Text Available Based on the responses of 5,557 Chinese secondary students in Hong Kong, the relationships between perceived family functioning (systemic correlate, parent-adolescent communication (dyadic correlate, and suicidal ideation were examined in this study. Results showed that suicidal ideation was negatively related to global family functioning and parent-adolescent communication. Regression analyses indicated that the dyadic and systemic factors had similar importance in predicting suicidal ideation. Theoretical and practical implications of the findings are discussed.

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

    OpenAIRE

    Benner, Aprile D.; Kim, Su Yeong

    2010-01-01

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

  9. Chinese traders in Serbia: Gender opportunities, translocal family strategies, and transnational mobility

    Directory of Open Access Journals (Sweden)

    Maja Korać-Sanderson

    2013-12-01

    In this paper I focus on Chinese trading migration to Serbia. I argue that in choosing destinations for their businesses Chinese traders increasingly opt for underdeveloped regions and transition societies not because they provide good business opportunities measured by economic indicators alone. Rather, these destinations are chosen because they provide better opportunities for an entrepreneurial life embedded in self-reliance and self-management. Some of these opportunities, as my discussion will demonstrate, are importantly gendered, opening up new gender space for young families and for women in particular. My discussion will further point out that because business opportunities in Serbia do not necessarily imply desirable living conditions, Chinese traders diversify their family strategies, which are translocally and transnationally negotiated. In doing so, I argue, they become protagonists, actively involved in establishing their livelihoods and flexible ways of incorporation.

  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.

  11. A novel mutation in MIP associated with congenital nuclear cataract in a Chinese family.

    Science.gov (United States)

    Wang, Kai Jie; Li, Sha Sha; Yun, Bo; Ma, Wen Xian; Jiang, Tian Ge; Zhu, Si Quan

    2011-01-08

    To identify the underlying genetic defect in a Chinese family affected with autosomal dominant congenital nuclear cataract. A four-generation Chinese family with inherited nuclear cataract phenotype was recruited. Detailed family history and clinical data were recorded. All reported nuclear cataract-related candidate genes were screened for causative mutations by direct DNA sequencing. Effects of amino acid changes on the structure and function of protein were predicted by bioinformatics analysis. All affected individuals in this family showed nuclear cataracts. Sequencing of the candidate genes revealed a heterozygous c.559C>T change in the coding region of the major intrinsic protein (MIP), which caused a substitution of highly conserved arginine by cysteine at codon 187 (p.R187C). This mutation co-segregated with all affected individuals and was not observed in unaffected family members or 110 ethnically matched controls. Bioinformatics analysis showed that the mutation was predicted to affect the function and secondary structure of MIP protein. This study identified a novel disease-causing mutation p.R187C in MIP in a Chinese cataract family, expanding the mutation spectrum of MIP causing congenital cataract.

  12. 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…

  13. 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…

  14. 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…

  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 children's and…

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

    NARCIS (Netherlands)

    Lan, S.

    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

  17. Parental Influence on Children's Talent Development: A Case Study with Three Chinese American Families

    Science.gov (United States)

    Wu, Echo H.

    2008-01-01

    This paper explores the influence of parenting beliefs and practices on children's talent development through a specific perspective of several Chinese American families with gifted children. In-depth interviews were employed to collect data from the parents, and research questions focused on the daily practice of parenting and parents' beliefs…

  18. The Chinese Family Assessment Instrument (C-FAI): Hierarchical Confirmatory Factor Analyses and Factorial Invariance

    Science.gov (United States)

    Shek, Daniel T. L.; Ma, Cecilia M. S.

    2010-01-01

    Objective: This paper examines the dimensionality and factorial invariance of the Chinese Family Assessment Instrument (C-FAI) using multigroup confirmatory factor analyses (MCFAs). Method: A total of 3,649 students responded to the C-FAI in a community survey. Results: Results showed that there are five dimensions of the C-FAI (communication,…

  19. 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…

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

    Science.gov (United States)

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

    2007-01-01

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

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

    Science.gov (United States)

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

    2014-01-01

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

  2. 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.…

  3. 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…

  4. 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.…

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

    Science.gov (United States)

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

    2016-01-01

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

  6. Ethnicity and utilization of family physicians: a case study of Mainland Chinese immigrants in Toronto, Canada.

    Science.gov (United States)

    Wang, Lu; Rosenberg, Mark; Lo, Lucia

    2008-11-01

    This paper seeks to examine how immigrants in a multicultural society access and utilize culturally- and linguistically-diverse family physicians. It focuses on Mainland Chinese (MLC) immigrants - the most important source of immigrants to Canada since 1996 - in the Toronto Census Metropolitan Area (CMA), Canada. Specifically, the paper aims to explore the choice between Chinese-speaking and non-Chinese-speaking family physicians by MLC immigrants and to determine the underlying reasons for MLC immigrants use of ethnically- and linguistically-matched family physicians. A wide range of data are analyzed including survey and focus group data, physician data from the College of Physicians and Surgeons of Ontario (CPSO) and geo-referenced 2001 Canadian Census data. A mixed-method approach is employed combining quantitative analysis of survey data and Census data, spatial analysis of patient travel behaviour based on the survey and qualitative analysis based on focus groups. The paper reveals an overwhelming preference among MLC survey respondents for Chinese-speaking family physicians regardless of study areas and socioeconomic and demographic status. The focus groups suggest that language, culture and ethnicity are intertwined in a complex way to influence the choice of health care providers and health management strategies in the host society. The paper yields important policy implications for identifying health professional shortage areas for culturally-diverse populations, addressing issues related to foreign-trained physicians and enhancing primary care delivery relevant for immigrant populations.

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

    Science.gov (United States)

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

    2007-01-01

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

  8. 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…

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

    NARCIS (Netherlands)

    Lan, S.

    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

  10. Supporting Pakistani and Chinese families with young children: perspectives of mothers and health visitors.

    Science.gov (United States)

    Hogg, R; de Kok, B; Netto, G; Hanley, J; Haycock-Stuart, E

    2015-05-01

    In the UK, public health nurses (health visitors) provide support and advice to families with young children, including those from minority ethnic communities. While the need for cultural sensitivity is being increasingly recognized, the factors which contribute to this sensitivity are poorly understood. The Pakistani and Chinese communities constitute the two largest minority ethnic groups in Scotland. This study explored Pakistani and Chinese women's experience of motherhood and of the health visiting service and public health nurses' experiences of working with Chinese and Pakistani mothers. Semi-structured individual interviews were carried out with 16 Pakistani and 15 Chinese mothers. Eight health visitors took part in two focus groups. The study was undertaken in an urban area of Scotland. Data were analysed thematically. Chinese and Pakistani mothers negotiate complex processes in order to ensure that their children maintain their own ethnic identity while fitting in with their peers in their adopted country. Health visitors were seen as supportive, although sometimes advice and information given was culturally inappropriate, and their role was often poorly understood. Health visitors were anxious to be sensitive to families' religious and cultural beliefs. Cultural sensitivity is an important factor in providing appropriate advice and help to Pakistani and Chinese families, and involves health visitors in considering views and practices on parenting which may differ across cultures, including their own. Family characteristics need to be understood on an individual basis, rather than making assumptions about clients' cultural norms and lifestyles. This is best achieved by exploring with mothers if they understand the advice and information they are being offered and also if it is appropriate to their cultural and religious beliefs. © 2014 John Wiley & Sons Ltd.

  11. The influence of Chinese culture on family caregivers of stroke survivors: A qualitative study.

    Science.gov (United States)

    Qiu, Xichenhui; Sit, Janet W H; Koo, Fung Kuen

    2017-07-05

    To explore and describe the caregiving experiences of Chinese stroke caregivers. Previous research has indicated that culture can have a significant impact on the stroke caregiving experience. Moreover, scant research exists on stroke caregivers' experience within the Chinese culture. A qualitative descriptive design was used. In-depth, semistructured interviews were conducted with 25 family caregivers of stroke survivors. The interviews were audiotaped, transcribed and analysed. Content analysis was also performed. Twenty-five family caregivers of stroke survivors were recruited for the study. On average, respondents were 66 years old (range 45-82 years). Of 25 interviewees, 76% were female, 64% were spouse-caregivers and 36% were children-caregivers. Three themes reflecting the influence of Chinese culture on stroke caregiving emerged from the interviews. (i) Caregiving role perception. Informants accepted caregiving for the sick family member as an expected part of life, a culturally prescribed obligation and an expression of reciprocal love. (ii) Coping strategies. Connecting with family resources and connecting with inner strength were frequently reported coping strategies. (iii) Self-sacrifice. Informants identified self-reliance and feeling of restraint in their utilisation or access of formal caregiving service. Chinese caregivers sacrifice themselves for the care recipients regardless of the hardships and the neglect of their own health. Our findings provide a comprehensive and culturally sensitive perspective in understanding the experience of stroke caregivers in Chinese communities. Cultural and religious backgrounds were found to influence Chinese stroke caregivers' experience, coping strategies and self-sacrifice behaviour in idiosyncratic ways. Research on the practice of culture can serve as a basis for the formulation of specific policies and effective interventions for supporting stroke caregivers of different cultural backgrounds. © 2017 The

  12. Cryptanalysis of a family of 1D unimodal maps

    Science.gov (United States)

    Said, Mohamad Rushdan Md; Hina, Aliyu Danladi; Banerjee, Santo

    2017-03-01

    In this paper, we proposed a topologically conjugate map, equivalent to the well known logistic map. This constructed map is defined on the integer domain [0, 2 n ) with a view to be used as a random number generator (RNG) based on an integer domain as is the required in classical cryptography. The maps were found to have a one to one correspondence between points in their respective defining intervals defined on an n-bits precision. The dynamics of the proposed map similar with that of the logistic map, in terms of the Lyapunov exponents with the control parameter. This similarity between the curves indicates topological conjugacy between the maps. With a view to be applied in cryptography as a Pseudo-Random number generator (PRNG), the complexity of the constructed map as a source of randomness is determined using both the permutation entropy (PE) and the Lempel-Ziv (LZ-76) complexity measures, and the results are compared with numerical simulations.

  13. Genetic Alterations in Familial Breast Cancer: Mapping and Cloning Genes Other Than BRCAl

    Science.gov (United States)

    1997-09-01

    predispose to breast cancer . These mutations are always in the context of Cowden’s Syndrome, and do not appear in families with brest cancer in the...AD AWARD NUMBER DAMD17-94-J-4307 TITLE: Genetic Alterations in Familial Breast Cancer : Mapping and Cloning Genes Other Than BRCA1 PRINCIPAL...Aug97-) Genetic Alterations in Familial Breast Cancer : Mapping and Cloning Genes Other than BRCA1 6. AUTHOR{S) Mary-Clair King, Ph.D. 7

  14. Identification of CYP4V2 mutation in 36 Chinese families with Bietti crystalline corneoretinal dystrophy.

    Science.gov (United States)

    Yin, Xiaobei; Yang, Liping; Chen, Ningning; Cui, Hui; Zhao, Lin; Feng, Lina; Li, Aijun; Zhang, Huirong; Ma, Zhizhong; Li, Genlin

    2016-05-01

    Bietti crystalline corneoretinal dystrophy (BCD) is an inherited eye disease that is most common in the Chinese. It is caused by a mutation in the CYP4V2 gene. In this study, 43 Chinese BCD families were recruited; most patients manifested the characteristic phenotype of BCD, with 2 families initially misdiagnosed with retinitis pigmentosa. Five patients in our cohort presented with BCD and choroidal neovascularization (CNV), and 1 patient presented with typical BCD and abnormality in the terminals of both fingers and toes. A total of 17 pathogenic mutations involving 68 alleles were identified from 36 families using targeted exon sequencing and Sanger sequencing; we achieved a diagnostic rate of approximately 84%. Fifteen families were found to carry homozygous mutations, 17 families carried compound heterozygous mutations, and 4 families carried a single heterozygous mutation. Of the mutations identified, four variants c.802-8_810del17bpinsGC, c.802-8_810del17bpinsGT, c.992A > C (p.H331P), and c.1091-2A > G accounted for 71% of the mutations identified in CYP4V2. These mutations were hotspots in Chinese populations for BCD. Five among them were novel and predicted to be disease-causing, including c.65T > A (p.L22H), c.681_4delTGAG (p.S227Rfs*1), c.802-8_810del17bpinsGT, c.965_7delAAG (p.321delE), and c.994G > A (p.D332N). No apparent correlation between genotype and phenotype was identified. Our findings broaden the spectrum of CYP4V2 mutations that cause BCD and the phenotypic spectrum of the disease in Chinese families. These results will be useful for the genetic diagnosis of BCD, genetic consultation, and gene therapy in the future.

  15. 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.

  16. Molecular analysis and phenotypic study in 14 Chinese families with Bietti crystalline dystrophy.

    Directory of Open Access Journals (Sweden)

    Houfa Yin

    Full Text Available PURPOSE: To investigate the clinical features and cytochrome P450 family 4 subfamily V polypeptide 2 (CYP4V2 gene mutations in 14 Chinese families with Bietti crystalline dystrophy (BCD. METHODS: Seventeen patients from 14 unrelated Chinese families with BCD were recruited for complete clinical ophthalmic examination and genetic study. The 11 exons of CYP4V2 were amplified from genomic DNA of all patients and their family members by polymerase chain reaction (PCR and then sequenced. Exons of TIMP3 were also sequenced in BCD patient associated with choroidal neovascularization (CNV. One hundred and seventy unrelated healthy Chinese subjects were screened for mutations in CYP4V2. RESULTS: All 17 patients with BCD had mutations in CYP4V2; one of these mutations was novel (c.219T>A, p.F73L and four other mutations had been reported. The p.F73L mutation was a commonly detected mutation in our study (seven out of 34 alleles, either in the homozygous state or in the heterozygous state. Among the patients, considerable phenotypic variability was detected, both within and between families. Screening of TIMP3 did not find any mutation in the BCD patient associated with CNV. CONCLUSION: The novel CYP4V2 c.219T>A (p.F73L mutation may be another recurrent mutation in Chinese patients with BCD. Our study expands the mutation spectrum of CYP4V2 and characterizes novel genotype-phenotype associations in Chinese patients with BCD.

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

    Institute of Scientific and Technical Information of China (English)

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

    2006-01-01

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

  18. Association between Family Structure and Physical Activity of Chinese Adolescents

    Directory of Open Access Journals (Sweden)

    Lijuan Wang

    2016-01-01

    Full Text Available Background. This study examines the association between family structure and moderate-to-vigorous physical activity (MVPA of adolescents in China. Methods. The participants included 612 adolescents (317 boys and 295 girls from Shanghai with ages ranging from 10 to 16 years. Accelerometers were used to measure the duration of MVPA of adolescents, and questionnaires on family structure were completed by the parents of these adolescents. Results. Findings suggested that family structure significantly increased the likelihood of adolescents engaging in physical activity (PA and explained 6% of MPVA variance. Adolescents living in single-parent households and step families were more physically active than those living in two-parent homes and with biological parents, respectively. However, adolescents residing with grandparents were less active than those living with neither grandparent. No significant difference was found in MVPA time between adolescents living with one sibling and those without siblings. Conclusion. Family environment may be considered in the development of PA interventions and policies, and adolescents living with their grandparents may be targeted in PA promotion.

  19. 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.

  20. Convergence of Infinite Family of Multivalued Quasi-Nonexpansive Mappings Using Multistep Iterative Processes

    Directory of Open Access Journals (Sweden)

    Renu Chugh

    2014-01-01

    Full Text Available We prove strong and weak convergence results using multistep iterative sequences for countable family of multivalued quasi-nonexpansive mappings by using some conditions in uniformly convex real Banach space. The results presented extended and improved the corresponding result of Zhang et al. (2013, Bunyawat and Suantai (2012, and some others from finite family, one countable family, and two countable families to k-number of countable families of multivalued quasi-nonexpansive mappings. Also we used a numerical example in C++ computational programs to prove that the iterative scheme we used has better rate of convergence than other existing iterative schemes.

  1. 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.

  2. 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.

  3. 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.

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

    Science.gov (United States)

    Su, Tina F.; Costigan, Catherine L.

    2009-01-01

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

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

    Science.gov (United States)

    Su, Tina F.; Costigan, Catherine L.

    2009-01-01

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

  6. A novel SCN1A mutation identified in a Chinese family with familial hemiplegic migraine: A case report.

    Science.gov (United States)

    Zhang, Yang; Chen, Ning; Zhou, Muke; Guo, Jian; Guo, Jiang; He, Li

    2016-11-08

    Familial hemiplegic migraine (FHM) is a rare type of migraine with aura that is characterized by transient hemiparesis. Mutations in three genes (CACNA1A, ATP1A2, and SCN1A) have been found to cause FHM. Among these, nine SCN1A gene mutations were reported to cause familial hemiplegic migraine type 3 (FHM3). However, none of them was reported in China. The clinical manifestations of a Chinese FHM family were recorded and all coding exons and flanking intronic regions of the CACNA1A, ATP1A2, and SCN1A genes were tested for mutations. All FHM patients in the investigated family have typical hemiplegic migraine attacks characteristic of FHM. We identified a novel mutation (p.Leu1670Trp) of the SCN1A gene. The affected amino acid is highly conserved across different species and therefore likely plays an important role in SCN1A gene function. The identification of a novel mutation in the SCN1A gene in the Chinese population may further aid in the understanding of FHM genetics. © International Headache Society 2016.

  7. 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.

  8. Visual Analysis Based on the Data of Chinese Surveying and Mapping Journals

    Science.gov (United States)

    Li, Jing; Liu, Haiyan; Guo, Wenyue; Yu, Anzhu

    2016-06-01

    Taking four influential Chinese surveying and mapping journals as the data source, 5863 papers published during the period of 2003-2013 were obtained. Using the method of bibliometrics and visual analysis, summarizing the surveying and mapping papers in the past ten years (2003-2013), research themes, authors, and geographical distribution were analyzed. In the study, the papers of geodesy, cartography and GIS are 59.9%, more than half of all the papers. We also determine that the core author group has 131 authors, mainly of whom are from big cities. 90% of top ten cities on the number of publishing papers are capital cities or municipalities directly under the central government.In conclusion, we found that the research focus was different every year, and the research content was richness, the content of geodesy, cartography and GIS were widely researched, and the development of surveying and mapping is imbalanced in China.

  9. SSR genetic linkage map construction of pea(Pisum sativum L.) based on Chinese native varieties

    Institute of Scientific and Technical Information of China (English)

    Xuelian; Sun; Tao; Yang; Junjie; Hao; Xiaoyan; Zhang; Rebecca; Ford; Junye; Jiang; Fang; Wang; Jianping; Guan; Xuxiao; Zong

    2014-01-01

    Simple sequence repeat(SSR)markers have previously been applied to linkage mapping of the pea(Pisum sativum L.)genome.However,the transferability of existing loci to the molecularly distinct Chinese winter pea gene pool was limited.A novel set of pea SSR markers was accordingly developed.Together with existing SSR sequences,the genome of the G0003973(winter hardy)×G0005527(cold sensitive)cross was mapped using 190 F2individuals.In total,157 SSR markers were placed in 11 linkage groups with an average interval of 9.7 cM and total coverage of 1518 cM.The novel markers and genetic linkage map will be useful for marker-assisted pea breeding.

  10. Examination of Huntington's disease in a Chinese family.

    Science.gov (United States)

    Yu, Mingxia; Li, Xiaogai; Wu, Sanyun; Shen, Ji; Tu, Jiancheng

    2014-02-15

    We report brain imaging and genetic diagnosis in a family from Wuhan, China, with a history of Huntington's disease. Among 17 family members across three generations, four patients (II2, II6, III5, and III9) show typical Huntington's disease, involuntary dance-like movements. Magnetic resonance imaging found lateral ventricular atrophy in three members (II2, II6, and III5). Moreover, genetic analysis identified abnormally amplified CAG sequence repeats (> 40) in two members (III5 and III9). Among borderline cases, with clinical symptoms and brain imaging features of Huntington's disease, two cases were identified (II2 and II6), but shown by mutation analysis for CAG expansions in the important transcript 15 gene, to be non-Huntington's disease. Our findings suggest that clinical diagnosis of Huntington's disease requires a combination of clinical symptoms, radiological changes, and genetic diagnosis.

  11. Examination of Huntington’s disease in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    Mingxia Yu; Xiaogai Li; Sanyun Wu; Ji Shen; Jiancheng Tu

    2014-01-01

    We report brain imaging and genetic diagnosis in a family from Wuhan, China, with a history of Huntington’s disease. Among 17 family members across three generations, four patients (II2, II6, III5, and III9) show typical Huntington’s disease, involuntary dance-like movements. Mag-netic resonance imaging found lateral ventricular atrophy in three members (II2, II6, and III5). Moreover, genetic analysis identiifed abnormally ampliifed CAG sequence repeats (>40) in two members (III5 and III9). Among borderline cases, with clinical symptoms and brain imaging features of Huntington’s disease, two cases were identiifed (II2 and II6), but shown by mutation analysis for CAG expansions in the important transcript 15 gene, to be non-Huntington’s disease. Our ifndings suggest that clinical diagnosis of Huntington’s disease requires a combination of clinical symptoms, radiological changes, and genetic diagnosis.

  12. Mapping cortical areas associated with Chinese word processing using functiona l magnetic resonance imaging

    Institute of Scientific and Technical Information of China (English)

    马林; 唐一源; 王岩; 李德军; 翁旭初; 张武田; 庄建程; 胡小平

    2003-01-01

    Objectives To identify the cortical areas engaged during Chinese word processing using func tional magnetic resonance imaging (fMRI) and to examine the reliability and repr oducibility of fMRI for localization of functional areas in the human brain.Methods FMRI data were collected on 8 young, right-handed, native Chinese speakers duri ng performance of Chinese synonym and homophone judgment tasks on two different clinical MRI systems (1.5 T GE Signa Horizon and 1.5 T Siemens Vision). A cro ss correlation analysis was used to statistically generate the activation map.Results Broca's area, Wernicke's area, bilateral extrastriate, and ventral tempo ral cortex were significantly activated during both the synonym and homophone activities. There was essentially no difference between results acquired on two different MRI systems.Conclusions FMRI can be used for localizing cortical areas critical to Chinese language proc essing in the human brain. The results are reliable and well reproducible acros s different clinical MRI systems.

  13. Preliminary genetic linkage maps of Chinese herb Dendrobium nobile and D. moniliforme

    Indian Academy of Sciences (India)

    Shangguo Feng; Hongyan Zhao; Jiangjie Lu; Junjun Liu; Bo Shen; Huizhong Wang

    2013-08-01

    Dendrobium is an endangered genus in the orchid family with medicinal and horticultural value. Two preliminary genetic linkage maps were constructed using 90 F1 progeny individuals derived from an interspecific cross between D. nobile and D. moniliforme (both, $2n = 38$), using random amplified polymorphic DNA (RAPD) and intersimple sequence repeat (ISSR). A total of 286 RAPD loci and 68 ISSR loci were identified and used for genetic linkage analysis. Maps were constructed by double pseudo-testcross mapping strategy using the software Mapmaker/EXP ver. 3.0, and Kosambi map distances were constructed using a LOD score ≥4 and a recombination threshold of 0.4. The resulting frame map of D. nobile was 1474 cM in total length with 116 loci distributed in 15 linkage groups; and the D. moniliforme linkage map had 117 loci placed in 16 linkage groups spanning 1326.5 cM. Both maps showed 76.91% and 73.59% genome coverage for D. nobile and D. moniliforme, respectively. These primary maps provide an important basis for genetic studies and further medicinal and horticultural traits mapping and marker-assisted selection in Dendrobium breeding programmes.

  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. 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.

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

    Institute of Scientific and Technical Information of China (English)

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

    2009-01-01

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

  17. A family of maps with many small fibers

    OpenAIRE

    Alpert, Hannah; Guth, Larry

    2014-01-01

    The waist inequality states that for a continuous map from S^n to R^q, not all fibers can have small (n-q)-dimensional volume. We construct maps for which most fibers have small (n-q)-dimensional volume and all fibers have bounded (n-q)-dimensional volume.

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

    Institute of Scientific and Technical Information of China (English)

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

    2013-01-01

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

  19. Novel Compound Heterozygous CBS Mutations Cause Homocystinuria in a Han Chinese Family.

    Science.gov (United States)

    Gong, Bo; Liu, Liping; Li, Zhiwei; Ye, Zimeng; Xiao, Ying; Zeng, Guangqun; Shi, Yi; Wang, Yumeng; Feng, Xiaoyun; Li, Xiulan; Hao, Fang; Liu, Xiaoqi; Qu, Chao; Li, Yuanfeng; Mu, Guoying; Yang, Zhenglin

    2015-12-15

    The cystathionine β-synthase (CBS) gene has been shown to be related to homocystinuria. This study was aimed to detect the mutations in CBS in a Han Chinese family with homocystinuria. A four-generation family from Shandong Province of China was recruited in this study. All available members of the family underwent comprehensive medical examinations. Genomic DNA was collected from peripheral blood of all the participants. The coding sequence of CBS was amplified by polymerase chain reaction (PCR), followed by direct DNA sequencing. Among all the family members, three affected individuals showed typical clinical features of homocystinuria. Two novel compound heterozygous mutations in the CBS gene, c.407T > C (p. L136P) and c.473C > T (p.A158V), were identified by sequencing analysis in this family. Both of the two missense mutations were detected in the three patients. Other available normal individuals, including the patients' parents, grand parents, her younger sister and brother in this family either carried one of the two mutations, or none. In addition, the two mutations were not found in 600 ethnically matched normal controls. This study provides a mutation spectrum of CBS resulting in homocystinuriain a Chinese population, which may shed light on the molecular pathogenesis and clinical diagnosis of CBS-associated homocystinuria.

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

    Directory of Open Access Journals (Sweden)

    Xu Chengqi

    2007-08-01

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

  1. A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family

    Directory of Open Access Journals (Sweden)

    Yu Zhou

    2016-01-01

    Full Text Available Congenital cataract is the most common cause of the visual disability and blindness in childhood. This study aimed to identify gene mutations responsible for autosomal dominant congenital cataract (ADCC in a Chinese family using next-generation sequencing technology. This family included eight unaffected and five affected individuals. After complete ophthalmic examinations, the blood samples of the proband and two available family members were collected. Then the whole exome sequencing was performed on the proband and Sanger sequencing was applied to validate the causal mutation in the two family members and control samples. After the whole exome sequencing data were filtered through a series of existing variation databases, a heterozygous mutation c.499Tfamily and was absolutely absent in 1000 ethnicity-matched control samples. Thus, the heterozygous mutation c.499Tfamily. In conclusion, our findings revealed a novel stopgain mutation c.499TChinese congenital cataract population and illustrated the important role of CRYBB2 in the genetics research of congenital cataract.

  2. Characterizing Ranked Chinese Syllable-to-Character Mapping Spectrum: A Bridge Between the Spoken and Written Chinese Language

    CERN Document Server

    Li, Wentian

    2012-01-01

    One important aspect of the relationship between spoken and written Chinese is the ranked syllable-to-character mapping spectrum, which is the ranked list of syllables by the number of characters that map to the syllable. Previously, this spectrum is analyzed for more than 400 syllables without distinguishing the four intonations. In the current study, the spectrum with 1280 toned syllables is analyzed by logarithmic function, Beta rank function, and piecewise logarithmic function. Out of the three fitting functions, the two-piece logarithmic function fits the data the best, both by the smallest sum of squared errors (SSE) and by the lowest Akaike information criterion (AIC) value. The Beta rank function is the close second. By sampling from a Poisson distribution whose parameter value is chosen from the observed data, we empirically estimate the $p$-value for testing the two-piece-logarithmic-function being better than the Beta rank function hypothesis, to be 0.16. For practical purposes, the piecewise logar...

  3. Mapping QTLs Affecting Economic Traits on BTA3 in Chinese Holstein with Microsatellite Markers

    Institute of Scientific and Technical Information of China (English)

    QIN Chun-hua; CHU Qin; CHU Gui-yan; ZHANG Yi; ZHANG Qin; ZHANG Sheng-li; SUN Dong-xiao

    2014-01-01

    It had been demonstrated that the strong and highly signiifcantquantitative trait locus (QTL) can affect protein percentage on Bos Taurus Autosome 3 (BTA3) at the position 52 cM, near the microsatelliteDIK4353, with the 95% conifdence interval spanning from 25 to 57 cM in Chinese Holstein population using QTL-express, MQREML, and GRIDQTL softwares. This study herein focused on such region of ifne mapping QTLs for milk production and functional traits with 16 microsatellite markers with coverage of 33 cM between the markersBMS2904 andMB099 on BTA3 in a daughter-designed Chinese Holstein population. A total of 1298 Holstein cows and 7 sires were genotyped for 16 microsatellites with ABI 3700 DNA sequencer. The variance components QTL linkage analysis (LA) and linkage-disequilibrium (LD) analysis (LA/LD) was performed to map QTLs for 7 traits, i.e., 305-d milk yield, fat yield, protein yield, fat percentage, protein percentage, somatic cell score and persistency of milk yield. Four strong and highly signiifcant QTLs were detected for fat yield, fat percentage, protein percentage and somatic cell score at the position 40, 30, 27 and 26 cM, respectively. Two minor QTLs for milk yield and persistency of milk yield were identiifed at 42 and 46 cM, respectively. These ifndings provided a general idea for the ifne mapping of the causal mutation for milk production and functional traits on BTA3 in the future.

  4. 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.

  5. Digital Inequalities of Family Life Information Seeking and Family Well-Being Among Chinese Adults in Hong Kong: A Population Survey

    OpenAIRE

    Wang, Man Ping; Wang, Xin; Viswanath, Kasisomayajula; Wan, Alice; Lam, Tai-Hing; Chan, Sophia S.

    2014-01-01

    Background Inequalities in Internet use and health information seeking are well documented, but less is known about information for family life activities. Objective We investigated the social determinants of online family life information seeking behaviors and its associations with family well-being among Chinese adults in Hong Kong. Methods A probability-based telephone survey was conducted in 2012 to record family life information seeking behaviors, including frequency of seeking and payin...

  6. 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.

  7. Parents' Relative Socioeconomic Status and Paternal Involvement in Chinese Families: The Mediating Role of Coparenting.

    Science.gov (United States)

    Liu, Chang; Wu, Xinchun; Zou, Shengqi

    2016-01-01

    This study examined the mediating role of coparenting in the association between differences/similarities in paternal and maternal socioeconomic status (SES) and paternal involvement in Chinese families. The sample included 244 couples with children aged 3-7 years. Fathers and mothers reported their individual incomes, educational levels, occupations, and coparenting behavior (measured using the Coparenting Scale), and fathers completed the Father Involvement Questionnaire. Structural equation modeling was performed to examine the associations between SES and paternal involvement. Results suggested that SES indicator measures were outcome specific. Occupational differences/similarities were associated with paternal involvement indirectly, via fathers' family integrity practices. Income and educational differences/similarities did not affect paternal involvement. The results suggested that the traditional Chinese view that "men are chiefly responsible for activity in society, while women are responsible for the home" has faded.

  8. Identification of a novel HLA-A*0278 allele in a Chinese family.

    Science.gov (United States)

    Ji, Y; Sun, J-L; Du, K-M; Xie, J-H; Ji, Y-H; Yang, J-H; Fu, M; Sun, Y; Jin, Y; Liu, D-Z; Zhao, T-M

    2005-06-01

    A novel human leukocyte antigen-A (HLA-A) allele, A*0278, has been identified in a Chinese family using DNA-based typing and molecular cloning methods. The alleles A*0278 differs from its closest matching HLA sequence of A*0256 by a silent substitution at 102 A > C and by two replacement substitutions, 98T > A and 292 C > G in exon 2, resulting in a change of codon 33 from Phe (TTC) to Tyr (TAC) and codon 98 from His (CAC) to Asp (GAC). Serology study revealed that A*0278 is associated with HLA-A2 broad specificity. A polymerase chain reaction-sequence-specific primers-based assay was developed to identify A*0278. Family study indicated that the propositus inhered his father's HLA haplotype A*0278, B*35, DRB1*15. No further individuals of A*0278 were found in 5000 Chinese bone marrow donor volunteers.

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

    Directory of Open Access Journals (Sweden)

    Wang Yang

    2012-10-01

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

  10. Browder's type strong convergence theorems for infinite families of nonexpansive mappings in Banach spaces

    Directory of Open Access Journals (Sweden)

    Suzuki Tomonari

    2006-01-01

    Full Text Available We prove Browder's type strong convergence theorems for infinite families of nonexpansive mappings. One of our main results is the following: let be a bounded closed convex subset of a uniformly smooth Banach space . Let be an infinite family of commuting nonexpansive mappings on . Let and be sequences in satisfying for . Fix and define a sequence in by for . Then converges strongly to , where is the unique sunny nonexpansive retraction from onto .

  11. Height bound and preperiodic points for jointly regular families of rational maps

    CERN Document Server

    Lee, ChongGyu

    2010-01-01

    Silverman proved a height inequality for jointly regular family of rational maps and the author improved it for jointly regular pairs. In this paper, we provide the same improvement for jointly regular family; if S is a jointly regular set of rational maps, then \\sum_{f\\in S} \\dfrac{1}{\\deg f} h\\bigl(f(P) \\bigr) > (1+ \\dfrac{1}{r}) f(P) - C where r = \\max_{f\\in S} r(f).

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

    OpenAIRE

    Zhendi Wang; Yang Wang; Jing Xiong

    2014-01-01

    Background/Aims: Autosomal-dominant polycystic kidney disease (ADPKD), a heterogeneous genetic disorder characterized by massive kidney enlargement and progressive chronic kidney disease, is due to abnormal proliferation of renal tubular epithelium. ADPKD is known to be caused by mutations in PKD1 and PKD2 genes. Methods: In the present study, the mutation analysis of PKD genes was performed in a new Chinese family with ADPKD using Long-Range (LR) PCR sequencing and targeted next-generation s...

  13. Mother-Adolescent Language Proficiency and Adolescent Academic and Emotional Adjustment Among Chinese American Families

    OpenAIRE

    2008-01-01

    This study examined the role of adolescents’ and mothers’ self-reports of English and heritage language proficiency in youth’s academic and emotional adjustment among 444 Chinese American families. Adolescents who were proficient in English tended to exhibit higher reading achievement scores, math achievement scores, and overall GPA. Mothers who were English proficient tended to have children with higher academic achievement and fewer depressive symptoms. Results also indicated that adolescen...

  14. Unusual cerebral white matter change in a Chinese family with Spinocerebellar ataxia type 12.

    Science.gov (United States)

    Hu, Tao; Zhao, Bi; Wei, Qian-qian; Shang, Huifang

    2015-02-15

    In a Chinese family with Spinocerebellar ataxia type 12 (SCA12), presenting with action tremor, mild cerebellar dysfunction, and hyperreflexia, genetic testing revealed abnormal CAG repeat length in the brain-specific protein phosphatase 2, regulatory subunit B, beta isoform (PPP2R2B) gene. To our knowledge, this is the first report on patients with SCA12 presenting with prominent cerebral white matter change besides cerebral and/or cerebellar atrophy.

  15. 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.

  16. A New General Iterative Method for a Finite Family of Nonexpansive Mappings in Hilbert Spaces

    Directory of Open Access Journals (Sweden)

    Singthong Urailuk

    2010-01-01

    Full Text Available We introduce a new general iterative method by using the -mapping for finding a common fixed point of a finite family of nonexpansive mappings in the framework of Hilbert spaces. A strong convergence theorem of the purposed iterative method is established under some certain control conditions. Our results improve and extend the results announced by many others.

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

    Directory of Open Access Journals (Sweden)

    Zhendi Wang

    2014-04-01

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

  18. Family Material Hardship and Chinese Adolescents’ Problem Behaviors: A Moderated Mediation Analysis

    Science.gov (United States)

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

    2015-01-01

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

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

    Science.gov (United States)

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

    2015-01-01

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

  20. 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.

  1. 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.

  2. A Novel CRYBB2 Stopgain Mutation Causing Congenital Autosomal Dominant Cataract in a Chinese Family

    Science.gov (United States)

    Zhou, Yu; Zhai, Yaru; Huang, Lulin; Gong, Bo; Li, Jie; Hao, Fang; Wu, Zhengzheng

    2016-01-01

    Congenital cataract is the most common cause of the visual disability and blindness in childhood. This study aimed to identify gene mutations responsible for autosomal dominant congenital cataract (ADCC) in a Chinese family using next-generation sequencing technology. This family included eight unaffected and five affected individuals. After complete ophthalmic examinations, the blood samples of the proband and two available family members were collected. Then the whole exome sequencing was performed on the proband and Sanger sequencing was applied to validate the causal mutation in the two family members and control samples. After the whole exome sequencing data were filtered through a series of existing variation databases, a heterozygous mutation c.499Tcongenital cataract population and illustrated the important role of CRYBB2 in the genetics research of congenital cataract. PMID:28025620

  3. Identification of two novel mutations in the GALNT3 gene in a Chinese family with hyperphosphatemic familial tumoral calcinosis.

    Science.gov (United States)

    Sun, Lihao; Zhao, Lin; Du, Lianjun; Zhang, Peipei; Zhang, Minjia; Li, Min; Liu, Tingting; Ye, Lei; Tao, Bei; Zhao, Hongyan; Liu, Jianmin; Ding, Xiaoyi

    2016-01-01

    Hyperphosphatemic familial tumoral calcinosis (HFTC) is a rare, autosomal recessive genetic disease. This disease is characterized by the progressive calcification of soft tissues leading to symptoms of pressure and hyperphosphatemia but normal concentrations of serum calcium with or without an elevation of 1,25-dihydroxyvitamin D3 levels.HFTC is caused by loss-of-function mutations in the GALNT3, FGF23 or KL genes. Here, we identified two novel mutations in the GALNT3 gene in a Chinese family with HFTC. Identification of a novel genotype in HFTC provides clues for understanding the phenotype-genotype relationships in HFTC and may assist not only in the clinical diagnosis of HFTC but also in the interpretation of the genetic information used for prenatal diagnosis and genetic counseling.

  4. Ophthalmic manifestations in a Chinese family with familial amyloid polyneuropathy due to a TTR Gly83Arg mutation.

    Science.gov (United States)

    Liu, T; Zhang, B; Jin, X; Wang, W; Lee, J; Li, J; Yuan, H; Cheng, X

    2014-01-01

    To describe the characteristic ophthalmic phenotypes of a large Chinese family with familial amyloid polyneuropathy due to a missense mutation in transthyretin (TTR) (c.307 C>G). Twenty-seven individuals (12 affected, 15 unaffected) from a five-generation Chinese family underwent general medical examination and comprehensive ophthalmic examination, including best correct visual acuity, intraocular pressure measurements, Schirmer test, slitlamp examination, fundoscopy, and ocular ultrasonography. Histological examination of vitreous biopsies using Congo red staining and immunohistochemistry was performed. Cardiovascular magnetic resonance (CMR), electrocardiogram, and echocardiogram were used to evaluate cardiac amyloidosis. Electromyography was used to evaluate nerve function. All four exons of TTR were amplified by PCR, sequenced using a Bigdye terminator v3.1 cycle sequencing kit and analyzed on an ABI 3700XL Genetic Analyzer. All 12 affected individuals in the family had ocular manifestations, including severe vitreous opacities, secondary glaucoma, xerophthalmia, dyscoria, and attenuated retinal arteries. Congo red staining demonstrated amyloid deposits in the vitreous, and immunohistochemical staining confirmed the deposition of TTR proteins in the vitreous. Twelve individuals had polyneuropathy, and electromyography detected functional damage in peripheral nerves. One individual was diagnosed with cardiac amyloidosis by CMR. Direct sequencing revealed the heterozygous missense mutation in TTR (c.307 C>G p.Gly83Arg) in all 12 affected individuals. The mutation co-segregated with the disease phenotype and was absent in 100 normal controls. Vitreous opacity is very common in patients with the TTR Gly83Arg mutation; other clinical characteristics associated with the mutation include polyneuropathy and cardiac amyloidosis.

  5. Family and personal protective factors moderate the effects of adversity and negative disposition on smoking among Chinese adolescents.

    Science.gov (United States)

    Arpawong, Thalida Em; Sun, Ping; Chang, Megan Chia-Chen; Gallaher, Peggy; Pang, Zengchang; Guo, Qian; Johnson, C Anderson; Unger, Jennifer

    2010-07-01

    Tobacco use among Chinese adolescents is increasing at approximately 80,000 new smokers per day. Assessing the causes for initiating tobacco use in China will be important in developing effective interventions and policies to stem rising prevalence rates. This study tested predictors of Resilience Theory in a sample of 602 Chinese adolescents. Results revealed that prior adversity, measured through school and family-related events, was significantly associated with increased smoking in females. Family factors (i.e., family cohesion, family adaptability, parental monitoring) and one personal factor (i.e., academic score) were associated with lower odds for smoking due to prior adversity and negative disposition.

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

    Science.gov (United States)

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

    2015-01-01

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

  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. Convergence theorems for a common fixed point of a finite family of nonself nonexpansive mappings

    Directory of Open Access Journals (Sweden)

    Shahzad Naseer

    2005-01-01

    Full Text Available Let be a nonempty closed convex subset of a reflexive real Banach space which has a uniformly Gâteaux differentiable norm. Assume that is a sunny nonexpansive retract of with as the sunny nonexpansive retraction. Let , , be a family of nonexpansive mappings which are weakly inward. Assume that every nonempty closed bounded convex subset of has the fixed point property for nonexpansive mappings. A strong convergence theorem is proved for a common fixed point of a family of nonexpansive mappings provided that , , satisfy some mild conditions.

  10. The Split Common Fixed Point Problem for a Family of Multivalued Quasinonexpansive Mappings and Totally Asymptotically Strictly Pseudocontractive Mappings in Banach Spaces

    Directory of Open Access Journals (Sweden)

    Ali Abkar

    2017-02-01

    Full Text Available In this paper, we introduce an iterative algorithm for solving the split common fixed point problem for a family of multi-valued quasinonexpansive mappings and totally asymptotically strictly pseudocontractive mappings, as well as for a family of totally quasi-ϕ-asymptotically nonexpansive mappings and k-quasi-strictly pseudocontractive mappings in the setting of Banach spaces. Our results improve and extend the results of Tang et al., Takahashi, Moudafi, Censor et al., and Byrne et al.

  11. Deceased Organ Donation Registration and Familial Consent among Chinese and South Asians in Ontario, Canada

    Science.gov (United States)

    Li, Alvin Ho-ting; McArthur, Eric; Maclean, Janet; Isenor, Cynthia; Prakash, Versha; Kim, S. Joseph; Knoll, Greg; Shah, Baiju; Garg, Amit X.

    2015-01-01

    Objective For various reasons, people of Chinese (China, Hong Kong or Taiwan) and South Asian (Indian subcontinent) ancestry (the two largest ethnic minority groups in Ontario, Canada) may be less likely to register for deceased organ donation than the general public, and their families may be less likely to consent for deceased organ donation at the time of death. Methods We conducted two population-based studies: (1) a cross-sectional study of deceased organ donor registration as of May 2013, and (2) a cohort study of the steps in proceeding with deceased organ donation for patients who died in hospital from October 2008 to December 2012. Results A total of 49 938 of 559 714 Chinese individuals (8.9%) and 47 774 of 374 291 South Asians (12.8%) were registered for deceased organ donation, proportions lower than the general public (2 676 260 of 10 548 249 (25.4%). Among the 168 703 Ontarians who died in a hospital, the families of 33 of 81 Chinese (40.1%; 95% CI: 30.7%-51.6%) and 39 of 72 South Asian individuals (54.2%; 95% CI: 42.7-65.2%) consented for deceased organ donation, proportions lower than the general public (68.3%; 95% CI: 66.4%-70.0%). Conclusions In Ontario, Canada Chinese and South Asian individuals are less likely to register and their families are less likely to consent to deceased organ donation compared to the remaining general public. There is an opportunity to build support for organ and tissue donation in these two large ethnic communities in Canada. PMID:26230320

  12. Familial correlation and aggregation of body mass index and blood pressure in Chinese Han population.

    Science.gov (United States)

    Hu, Yang; He, Liu; Wu, Yangfeng; Ma, Guansheng; Li, Liming; Hu, Yonghua

    2013-07-26

    It remains unclear whether the body mass index (BMI) and blood pressure (BP) profile are clustered within families in Chinese Han population. The aim of this study is to explore familial aggregation and parent-offspring correlations of BMI and blood pressure in Chinese Han population. 6,369 Han nucleus families, consisting of parents and at least one biological adult child who were living together, were enrolled from the nation-wide cross-sectional study (China National Nutrition and Health Survey) which was conducted in 2002, with a total number of 19,107 participants aged 18-64 years (6,369 sets of parents, 4,132 sons and 2,237 daughters). Family aggregation (Intra-class correlations, ICCs) and parent-offspring correlations in BMI, systolic BP (SBP) and diastolic BP (DBP) were estimated using linear mixed effect regression models. BMI and BP levels in two generations and ICCs of BMI, SBP and DBP varied across the country. Familial aggregation of overweight/obesity was observed in rural area (ICC=5.4%, pfamilies (ICC=4.4%, pfamilies (ICC=2.6%). Additionally, offspring with more parents being overweight/obese tend to have higher BMI. The similar trend was found for high BP. However, we did not observe that same-sex parent-offspring correlations of BMI and BP were stronger than the correlations for mother-son or father-daughter. Our study suggested that familial environments, alongside the impact of genetic factors, could be important non-communicable chronic diseases (NCD) risk factors. Family-based intervention taking both mother and father into account might have great potential in NCD prevention for younger generation.

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

    Science.gov (United States)

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

    2014-11-01

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

  14. Violent behavior in Chinese adolescents with an economic disadvantage. Psychological, family and interpersonal correlates.

    Science.gov (United States)

    Shek, Daniel T; Tang, Vera

    2003-01-01

    Two studies investigating the psychological, family and interpersonal correlates of adolescent violent behavior are reported in this paper. In Study 1, secondary school students (N = 1,519) responded to established scales assessing their psychological attributes, family functioning, parenting qualities and psychosocial support and conflict. Results of Study 1 showed that: a) adolescents who showed higher levels of perceived stress and psychological symptoms displayed more signs of adolescent violence; b) adolescents who had a higher sense of mastery and existential mental health displayed less signs of violence; c) adolescents' attitudes towards poverty and traditional Chinese beliefs about adversity were significantly related to adolescent violence; d) higher levels of family functioning, positive parenting styles as well as interpersonal support and lower levels of interpersonal conflicts were associated with a lower level of adolescent violence. Results further showed that some of the above factors were more strongly related to adolescent violence in adolescents experiencing economic disadvantage than in adolescents who did not experience economic disadvantage. Some of the findings of Study 1 were replicated in Study 2, where adolescents from 229 families (either families on welfare or low income families) were recruited. These studies suggested that several psychological, family and interpersonal factors are related to adolescent violent behavior, particularly in adolescents with economic disadvantage.

  15. 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.

  16. 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. 

  17. 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

  18. 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.

  19. Parent-child acculturation, parenting, and adolescent depressive symptoms in Chinese immigrant families.

    Science.gov (United States)

    Kim, Su Yeong; Chen, Qi; Li, Jing; Huang, Xuan; Moon, Ui Jeong

    2009-06-01

    Using a sample of 388 father-adolescent and 399 mother-adolescent dyads in Chinese immigrant families, the current investigation tested Portes and Rumbaut's (1996) assertion that generational dissonance may indicate a family context that places children at increased risk for adverse outcomes. Study findings suggest that a high discrepancy in father-adolescent acculturation levels relates significantly to more adolescent depressive symptoms. The study further demonstrates that the quality of the parenting relationship between fathers and adolescents operates as a mediator between father-adolescent acculturation discrepancy and adolescent depressive symptoms. Specifically, a high level of discrepancy in American orientation between fathers and adolescents is associated with unsupportive parenting practices, which, in turn, are linked to more adolescent depressive symptoms. These relationships are significant even after controlling for the influence of family socioeconomic status and parents' and adolescents' sense of discrimination within the larger society. Copyright 2009 APA, all rights reserved.

  20. A novel HSF4 mutation in a Chinese family with autosomal dominant congenital cataract.

    Science.gov (United States)

    Liu, Ling; Zhang, Qing; Zhou, Lu-xin; Tang, Zhao-hui

    2015-04-01

    This study was aimed to identify the mutation of the whole coding region of shock transcription factor 4 (HSF4) gene in a Chinese family with autosomal dominant congenital cataract (ADCC). All exons of HSF4 were amplified by PCR. Sequence analysis of PCR products was performed. Restriction fragment length polymorphism (RFLP) analysis was conducted to confirm the pathogenic mutation. The results showed that a C to T substitution occurred at nucleotide 331 in patients of this family, leading to the replacement of the amino acid arginine-111 with cysteine in exon 3. RFLP analysis showed that the amino acid change was co-segregated with all affected individuals. It was concluded that the new mutation of c.331C>T in HSF4 DNA may be responsible for the autosomal dominant congenital cataract in this family.

  1. Reduced Penetrance of PRRT2 Mutation in a Chinese Family With Infantile Convulsion and Choreoathetosis Syndrome.

    Science.gov (United States)

    Zhang, L M; An, Y; Pan, G; Ding, Y F; Zhou, Y F; Yao, Y H; Wu, B L; Zhou, S Z

    2015-09-01

    Paroxysmal kinesigenic dyskinesia is a rare episodic movement disorder that can be isolated or associated with benign infantile seizures as part of choreoathetosis syndrome. Mutations in the PRRT2 gene have been recently identified as a cause of paroxysmal kinesigenic dyskinesia and infantile convulsion and choreoathetosis (ICCA). We reported a PRRT2 heterozygous mutation (c.604-607delTCAC, p.S202Hfs*25) in a 3-generation Chinese family with infantile convulsion and choreoathetosis and paroxysmal kinesigenic dyskinesia. The mutation was present in 5 family members, of which 4 were clinically affected and 1 was an obligate carrier with reduced penetrance of PRRT2. The affected carriers of this mutation presented with a similar type of infantile convulsion during early childhood and developed additional paroxysmal kinesigenic dyskinesia symptoms later in life. In addition, they all had a dramatic clinical response to oxcarbazepine/phenytoin therapy. Reduced penetrance of the PRRT2 mutation in this family could warrant genetic counseling.

  2. Bifurcations of families of 1D-tori in 4D symplectic maps.

    Science.gov (United States)

    Onken, Franziska; Lange, Steffen; Ketzmerick, Roland; Bäcker, Arnd

    2016-06-01

    The regular structures of a generic 4d symplectic map with a mixed phase space are organized by one-parameter families of elliptic 1d-tori. Such families show prominent bends, gaps, and new branches. We explain these features in terms of bifurcations of the families when crossing a resonance. For these bifurcations, no external parameter has to be varied. Instead, the longitudinal frequency, which varies along the family, plays the role of the bifurcation parameter. As an example, we study two coupled standard maps by visualizing the elliptic and hyperbolic 1d-tori in a 3d phase-space slice, local 2d projections, and frequency space. The observed bifurcations are consistent with the analytical predictions previously obtained for quasi-periodically forced oscillators. Moreover, the new families emerging from such a bifurcation form the skeleton of the corresponding resonance channel.

  3. Bifurcations of families of 1D-tori in 4D symplectic maps

    Science.gov (United States)

    Onken, Franziska; Lange, Steffen; Ketzmerick, Roland; Bäcker, Arnd

    2016-06-01

    The regular structures of a generic 4d symplectic map with a mixed phase space are organized by one-parameter families of elliptic 1d-tori. Such families show prominent bends, gaps, and new branches. We explain these features in terms of bifurcations of the families when crossing a resonance. For these bifurcations, no external parameter has to be varied. Instead, the longitudinal frequency, which varies along the family, plays the role of the bifurcation parameter. As an example, we study two coupled standard maps by visualizing the elliptic and hyperbolic 1d-tori in a 3d phase-space slice, local 2d projections, and frequency space. The observed bifurcations are consistent with the analytical predictions previously obtained for quasi-periodically forced oscillators. Moreover, the new families emerging from such a bifurcation form the skeleton of the corresponding resonance channel.

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

    Science.gov (United States)

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

    2009-04-01

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

  5. Next Generation Mapping of Enological Traits in an F2 Interspecific Grapevine Hybrid Family

    Science.gov (United States)

    Sun, Qi; Manns, David C.; Sacks, Gavin L.; Mansfield, Anna Katharine; Luby, James J.; Londo, Jason P.; Reisch, Bruce I.; Cadle-Davidson, Lance E.; Fennell, Anne Y.

    2016-01-01

    In winegrapes (Vitis spp.), fruit quality traits such as berry color, total soluble solids content (SS), malic acid content (MA), and yeast assimilable nitrogen (YAN) affect fermentation or wine quality, and are important traits in selecting new hybrid winegrape cultivars. Given the high genetic diversity and heterozygosity of Vitis species and their tendency to exhibit inbreeding depression, linkage map construction and quantitative trait locus (QTL) mapping has relied on F1 families with the use of simple sequence repeat (SSR) and other markers. This study presents the construction of a genetic map by single nucleotide polymorphisms identified through genotyping-by-sequencing (GBS) technology in an F2 mapping family of 424 progeny derived from a cross between the wild species V. riparia Michx. and the interspecific hybrid winegrape cultivar, ‘Seyval’. The resulting map has 1449 markers spanning 2424 cM in genetic length across 19 linkage groups, covering 95% of the genome with an average distance between markers of 1.67 cM. Compared to an SSR map previously developed for this F2 family, these results represent an improved map covering a greater portion of the genome with higher marker density. The accuracy of the map was validated using the well-studied trait berry color. QTL affecting YAN, MA and SS related traits were detected. A joint MA and SS QTL spans a region with candidate genes involved in the malate metabolism pathway. We present an analytical pipeline for calling intercross GBS markers and a high-density linkage map for a large F2 family of the highly heterozygous Vitis genus. This study serves as a model for further genetic investigations of the molecular basis of additional unique characters of North American hybrid wine cultivars and to enhance the breeding process by marker-assisted selection. The GBS protocols for identifying intercross markers developed in this study can be adapted for other heterozygous species. PMID:26974672

  6. Next Generation Mapping of Enological Traits in an F2 Interspecific Grapevine Hybrid Family.

    Directory of Open Access Journals (Sweden)

    Shanshan Yang

    Full Text Available In winegrapes (Vitis spp., fruit quality traits such as berry color, total soluble solids content (SS, malic acid content (MA, and yeast assimilable nitrogen (YAN affect fermentation or wine quality, and are important traits in selecting new hybrid winegrape cultivars. Given the high genetic diversity and heterozygosity of Vitis species and their tendency to exhibit inbreeding depression, linkage map construction and quantitative trait locus (QTL mapping has relied on F1 families with the use of simple sequence repeat (SSR and other markers. This study presents the construction of a genetic map by single nucleotide polymorphisms identified through genotyping-by-sequencing (GBS technology in an F2 mapping family of 424 progeny derived from a cross between the wild species V. riparia Michx. and the interspecific hybrid winegrape cultivar, 'Seyval'. The resulting map has 1449 markers spanning 2424 cM in genetic length across 19 linkage groups, covering 95% of the genome with an average distance between markers of 1.67 cM. Compared to an SSR map previously developed for this F2 family, these results represent an improved map covering a greater portion of the genome with higher marker density. The accuracy of the map was validated using the well-studied trait berry color. QTL affecting YAN, MA and SS related traits were detected. A joint MA and SS QTL spans a region with candidate genes involved in the malate metabolism pathway. We present an analytical pipeline for calling intercross GBS markers and a high-density linkage map for a large F2 family of the highly heterozygous Vitis genus. This study serves as a model for further genetic investigations of the molecular basis of additional unique characters of North American hybrid wine cultivars and to enhance the breeding process by marker-assisted selection. The GBS protocols for identifying intercross markers developed in this study can be adapted for other heterozygous species.

  7. Intra-family phenotypic heterogeneity of 16p11.2 deletion carriers in a three-generation Chinese family.

    Science.gov (United States)

    Shen, Yiping; Chen, Xiaoli; Wang, Liwen; Guo, Jin; Shen, Jianliang; An, Yu; Zhu, Haitao; Zhu, Yanli; Xin, Ruolei; Bao, Yihua; Gusella, James F; Zhang, Ting; Wu, Bai-Lin

    2011-03-01

    The 16p11.2 deletion is a recurrent genomic event and a significant risk factor for autism spectrum disorders (ASD). This genomic disorder also exhibits extensive phenotypic variability and diverse clinical phenotypes. The full extent of phenotypic heterogeneity associated with the 16p11.2 deletion disorder and the factors that modify the clinical phenotypes are currently unknown. Multiplex families with deletion offer unique opportunities for exploring the degree of heterogeneity and implicating modifiers. Here we reported the clinical and genomic characteristics of three 16p11.2 deletion carriers in a Chinese family. The father carries a de novo 16p11.2 deletion, and it was transmitted to the proband and sib. The proband presented with ASD, intellectual disability, learning difficulty, congenital malformations such as atrial septal defect, scoliosis. His dysmorphic features included myopia and strabismus, flat and broad nasal bridge, etc. While the father shared same neurodevelopmental problems as the proband, the younger brother did not show many of the proband's phenotypes. The possible unmasked mutation of TBX6 and MVP gene in this deleted region and the differential distribution of other genomic CNVs were explored to explain the phenotypic heterogeneity in these carriers. This report demonstrated the different developmental trajectory and discordant phenotypes among family members with the same 16p11.2 deletion, thus further illustrated the phenotypic complexity and heterogeneity of the 16p11.2 deletion.

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

    Science.gov (United States)

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

    2015-11-01

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

  9. Mutation analysis of PAX6 gene in a large Chinese family with aniridia

    Institute of Scientific and Technical Information of China (English)

    SONG Shu-juan; LIU Ying-zhi; CONG Ri-chang; JIN Ying; HOU Zhi-qiang; MA Zhi-zhong; REN Guo-cheng; LI Ling-song

    2005-01-01

    Background Mutations in PAX6 gene have been shown to be the genetic cause of aniridia, which is a severe panocular eye disease characterised by iris hypoplasia. However, there is no study to do genetic analysis of aniridia, although there are several case reports in China. Here, we describe a mutation analysis of PAX6 in a large Chinese family with aniridia. Methods Genomic DNA from venous blood samples was prepared. Haplotype analysis was performed with two genetic markers (D11S904 and D11S935). Fourteen exons of the PAX6 gene were amplified from genomic DNA. Polymerase chain reaction (PCR) products of each exon were analysed by single strand conformational polymorphism (SSCP). The PCR products having an abnormal pattern were sequenced to confirm the mutation.Results Significant evidence for allele sharing in affected patients was detected suggesting that PAX6 mutation links to aniridia in this family. An extra band corresponding to exon 9 in PAX6 was found by single strand conformational polymorphism analysis in all the aniridia patients in this family, but not detected in the unaffected members. A mutation of C to T was detected by sequencing at the nucleotide 1080 that converts the Arg codon (CGA) to the termination codon (TGA).Conclusions Aniridia is caused by a nonsense mutation of PAX6 gene in the large Chinese kindred. Genetic test is important to prevent the transmission of aniridia to their offsprings in the kindred by prenatal diagnosis.

  10. A nonsense mutation in CRYGC associated with autosomal dominant congenital nuclear cataract in a Chinese family.

    Science.gov (United States)

    Yao, Ke; Jin, Chongfei; Zhu, Ning; Wang, Wei; Wu, Renyi; Jiang, Jin; Shentu, Xingchao

    2008-07-09

    To identify the genetic defect associated with autosomal dominant congenital nuclear cataract in a Chinese family. Family history and phenotypic data were recorded, and the phenotypes were documented by slit lamp photography. The genomic DNA was extracted from peripheral blood leukocytes. All the exons and flanking intronic sequences of CRYGC and CRYGD were amplified by polymerase chain reaction (PCR) and screened for mutation by direct DNA sequencing. Structural models of the wild type and mutant gammaC-crystallin were generated and analyzed by SWISS-MODEL. Sequencing of the coding regions of CRYGC and CRYGD showed the presence of a heterozygous C>A transversion at c.327 of the coding sequence in exon 3 of CRYGC (c.327C>A), which results in the substitution of a wild type cysteine to a nonsense codon (C109X). One and a half Greek key motifs at the COOH-terminus were found to be absent in the structural model of the mutant truncated gammaC-crystallin. A novel nonsense mutation in CRYGC was detected in a Chinese family with consistent autosomal dominant congenital nuclear cataract, providing clear evidence of a relationship between the genotype and the corresponding cataract phenotype.

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

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    Qiu Zhang

    2016-08-01

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

  12. Predictors of the depressive symptomatology of the family caregivers of Chinese stroke patients in Hong Kong.

    Science.gov (United States)

    Lau, C G; Tang, W K; Wong, K S; Mok, V; Ungvari, G S

    2012-05-01

    The aim of this cross-sectional study was to determine the socio-demographic and clinical factors associated with depressive symptoms in the family caregivers of Hong Kong Chinese stroke patients. One hundred and twenty-three patients at a stroke clinic and their family caregivers formed the study sample. The depressive symptoms of both the patients and their family caregivers were rated with the Chinese version of the 15-item Geriatric Depression Scale (GDS). Participants' socio-demographic data and clinical characteristics served as the independent variables in relation to the caregivers' GDS scores. Patients' and caregivers' somatic and psychological conditions were measured with 10 scales. In univariate analysis, caregivers' GDS scores were significantly correlated with certain of their characteristics [Modified Life Event Scale (MLES), Cumulative Illness Rating Scale (CIRS) and Lubben Social Network Scale (LSNS) scores, sex and being a housewife] and those of the patients (GDS score and being a housewife). Multiple regression analysis showed caregivers' MLES and CIRS scores and patients' GDS scores to be independent correlates of caregivers' GDS scores. Adverse events encountered by caregivers in the past 6 months, their current health problems and patients' depressive symptoms were found to be the principal factors associated with caregivers' depressive symptoms. © 2011 Blackwell Publishing.

  13. A specificity map for the PDZ domain family.

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    Raffi Tonikian

    2008-09-01

    Full Text Available PDZ domains are protein-protein interaction modules that recognize specific C-terminal sequences to assemble protein complexes in multicellular organisms. By scanning billions of random peptides, we accurately map binding specificity for approximately half of the over 330 PDZ domains in the human and Caenorhabditis elegans proteomes. The domains recognize features of the last seven ligand positions, and we find 16 distinct specificity classes conserved from worm to human, significantly extending the canonical two-class system based on position -2. Thus, most PDZ domains are not promiscuous, but rather are fine-tuned for specific interactions. Specificity profiling of 91 point mutants of a model PDZ domain reveals that the binding site is highly robust, as all mutants were able to recognize C-terminal peptides. However, many mutations altered specificity for ligand positions both close and far from the mutated position, suggesting that binding specificity can evolve rapidly under mutational pressure. Our specificity map enables the prediction and prioritization of natural protein interactions, which can be used to guide PDZ domain cell biology experiments. Using this approach, we predicted and validated several viral ligands for the PDZ domains of the SCRIB polarity protein. These findings indicate that many viruses produce PDZ ligands that disrupt host protein complexes for their own benefit, and that highly pathogenic strains target PDZ domains involved in cell polarity and growth.

  14. Homozygosity Mapping in Leber Congenital Amaurosis and Autosomal Recessive Retinitis Pigmentosa in South Indian Families.

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    Sundaramurthy Srilekha

    Full Text Available Leber congenital amaurosis (LCA and retinitis pigmentosa (RP are retinal degenerative diseases which cause severe retinal dystrophy affecting the photoreceptors. LCA is predominantly inherited as an autosomal recessive trait and contributes to 5% of all retinal dystrophies; whereas RP is inherited by all the Mendelian pattern of inheritance and both are leading causes of visual impairment in children and young adults. Homozygosity mapping is an efficient strategy for mapping both known and novel disease loci in recessive conditions, especially in a consanguineous mating, exploiting the fact that the regions adjacent to the disease locus will also be homozygous by descent in such inbred children. Here we have studied eleven consanguineous LCA and one autosomal recessive RP (arRP south Indian families to know the prevalence of mutations in known genes and also to know the involvement of novel loci, if any. Complete ophthalmic examination was done for all the affected individuals including electroretinogram, fundus photograph, fundus autofluorescence, and optical coherence tomography. Homozygosity mapping using Affymetrix 250K HMA GeneChip on eleven LCA families followed by screening of candidate gene(s in the homozygous block identified mutations in ten families; AIPL1 - 3 families, RPE65- 2 families, GUCY2D, CRB1, RDH12, IQCB1 and SPATA7 in one family each, respectively. Six of the ten (60% mutations identified are novel. Homozygosity mapping using Affymetrix 10K HMA GeneChip on the arRP family identified a novel nonsense mutation in MERTK. The mutations segregated within the family and was absent in 200 control chromosomes screened. In one of the eleven LCA families, the causative gene/mutation was not identified but many homozygous blocks were noted indicating that a possible novel locus/gene might be involved. The genotype and phenotype features, especially the fundus changes for AIPL1, RPE65, CRB1, RDH12 genes were as reported earlier.

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

    Science.gov (United States)

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

    2008-01-01

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

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

    Institute of Scientific and Technical Information of China (English)

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

    2011-01-01

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

  17. Construction of BAC-based physical map and analysis of chromosome rearrangement in Chinese hamster ovary cell lines.

    Science.gov (United States)

    Cao, Yihua; Kimura, Shuichi; Itoi, Takayuki; Honda, Kohsuke; Ohtake, Hisao; Omasa, Takeshi

    2012-06-01

    Chinese hamster ovary (CHO) cells have frequently been used in biotechnology for many years as a mammalian host cell platform for cloning and expressing genes of interest. A detailed physical chromosomal map of the CHO DG44 cell line was constructed by fluorescence in situ hybridization (FISH) imaging using randomly selected 303 BAC clones as hybridization probes (BAC-FISH). The two longest chromosomes were completely paired chromosomes; other chromosomes were partly deleted or rearranged. The end sequences of 624 BAC clones, including 287 mapped BAC clones, were analyzed and 1,119 informative BAC end sequences were obtained. Among 303 mapped BAC clones, 185 clones were used for BAC-FISH analysis of CHO K1 chromosomes and 94 clones for primary Chinese hamster lung cells. Based on this constructed physical map and end sequences, the chromosome rearrangements between CHO DG44, CHO K1, and primary Chinese hamster cells were investigated. Among 20 CHO chromosomes, eight were conserved without large rearrangement in CHO DG44, CHO K1, and primary Chinese hamster cells. This result suggested that these chromosomes were stable and essential in CHO cells and supposedly conserved in other CHO cell lines.

  18. 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.

  19. [Characteristics of audiology and clinical genetics of a Chinese family with the DFNA5 genetic hearing loss].

    Science.gov (United States)

    Jin, Zhanguo; Cheng, Jing; Han, Bing; Li, Hongbo; Lu, Yu; Li, Zhengyue; Han, Dongyi

    2011-05-01

    To analysis the characteristics of audiology and clinical genetics of a Chinese family with the DFNA5 genetic hearing loss in detail. A detailed family history and clinical data were collected. The Chinese pedigree is an autosomal-dominant inherited hearing loss. The data of audiological examination about genetic characteristics was analysed. The relationship between the hearing-impaired of this family and age was contrasted. This Chinese family spanned five generations and comprised 42 members. The mode of inheritance of the families should be autosomal dominant according to the pedigree. Pure-tone audiograms showed a so-called Z shape curve. The hearing loss is sensorineural, progressive and beginning at the high frequencies. The audiograms were fairly symmetric. Whole frequencies became involved with increasing age. The Chinese family with the DFNA5 mutation was an autosomal dominant pedigree. In this family, non-syndromic symmetric hearing impairment was severest at the high frequencies early, and gradually accumulated all frequencies of hearing. A mutation in DFNA5 leads to a type of hearing loss that closely resembles the frequently observed age-related hearing impairment. It should take into account DFNA5 mutation which the audiogram of a genetic hearing impaired has the same feature.

  20. FAMILY OF QUASI CONFORMAL MAPPINGS%拟共形映射族

    Institute of Scientific and Technical Information of China (English)

    孙道椿

    2001-01-01

    he family of quasi conformal mappings is studied with theory of covering surfaces. A funda-mental inequality is established and some normal theorems on quasi conformal mappings are obtained.%应用覆盖曲面的理论,研究了拟共形映射族,建立了一个基本不等式,得到几个关于拟共形映射的正规定理.

  1. Resolution of the Poincare problem and nonexistence of algebraic limit cycles in family (I) of Chinese classification

    Energy Technology Data Exchange (ETDEWEB)

    Chavarriga, Javier [Departament de Matematica, Universitat de Lleida, Avda, Jaume II 69, 25001 Lleida (Spain)]. E-mail: chava@eup.udl.es; Garcia, Isaac A. [Departament de Matematica, Universitat de Lleida, Avda, Jaume II 69, 25001 Lleida (Spain)]. E-mail: garcia@eup.udl.es; Sorolla, Jordi [Departament de Matematica, Universitat de Lleida, Avda, Jaume II 69, 25001 Lleida (Spain)]. E-mail: jsorolla@matematica.udl.es

    2005-04-01

    Any quadratic system with limit cycles can be written in one of the three families stated by the Chinese classification. In this paper we consider family (I), i.e., x-bar ={delta}x-y+-bar x2+mxy+ny2,y-bar =x. We show that the degree of its real irreducible invariant algebraic curves is bounded by 3. By the way, we prove that there is not any algebraic limit cycle for this family.

  2. Normal families of meromorphic mappings of several complex variables into PN(C) for moving targets

    Institute of Scientific and Technical Information of China (English)

    TU; Zhenhan; LI; Pingli

    2005-01-01

    Motivated by Ru and Stoll's accomplishment of the second main theorem in higher dimension with moving targets, many authors studied the moving target problems in value distribution theory and related topics. But thereafter up to the present, all of researches about normality criteria for families of meromorphic mappings of several complex variables into PN(C) have been still restricted to the hyperplane case. In this paper, we prove some normality criteria for families of meromorphic mappings of several complex variables into PN(C) for moving hyperplanes, related to Nochka's Picard-type theorems.The new normality criteria greatly extend earlier related results.

  3. A novel mutation in CRYAB associated with autosomal dominant congenital nuclear cataract in a Chinese family.

    Science.gov (United States)

    Chen, Qiang; Ma, Junjie; Yan, Ming; Mothobi, Maneo Emily; Liu, Yuanyuan; Zheng, Fang

    2009-07-10

    To identify the genetic defects associated with autosomal dominant congenital nuclear cataract in a Chinese family. Clinical data were collected, and the phenotypes of the affected members in this family were recorded by slit-lamp photography. Genomic DNA was isolated from peripheral blood. Mutations were screened in cataract-associated candidate genes through polymerase chain reaction (PCR) analyses and sequencing. Structural models of the wild-type and mutant alphaB-crystallin were generated and analyzed by SWISS-MODEL. Mutation screening identified only one heterozygous G-->A transition at nucleotide 32 in the first exon of alphaB-crystallin (CRYAB), resulting in an amino acid change from arginine to histidine at codon 11 (R11H). This mutation segregated in all available affected family members but was not observed in any of the unaffected persons of the family. The putative mutation disrupted a restriction site for the enzyme, Fnu4HI, in the affected family members. The disruption, however, was not found in any of the randomly selected ophthalmologically normal individuals or in 40 unrelated senile cataract patients. Computer-assisted prediction suggested that this mutation affected the biochemical properties as well as the structure of alphaB-crystallin. These results supported the idea that the novel R11H mutation was responsible for the autosomal dominant nuclear congenital cataract in this pedigree.

  4. Genetic and clinical analysis in a Chinese parkinsonism-predominant spinocerebellar ataxia type 2 family.

    Science.gov (United States)

    Sun, Hao; Satake, Wataru; Zhang, Changjun; Nagai, Yoshitaka; Tian, Youyong; Fu, Shouzhi; Yu, Jiankun; Qian, Yaping; Qian, Yuan; Chu, Jiayou; Toda, Tatsushi

    2011-04-01

    Parkinson's disease is a degenerative central nervous system disorder that often impairs motor skills, speech and other functions. We discovered a large Chinese family showing primarily parkinsonism symptoms with autosomal dominant inheritance. Six affected individuals in the family showed typical parkinsonism symptoms, including pill-rolling tremor. Two other affected individuals showed cerebellar ataxia symptoms. A whole-genome scan using the 50K single nucleotide polymorphism array with three different linkage methods detected two positive regions on chromosome 12q24.1 and 5q13.3. The ATXN2 gene, responsible for spinocerebellar ataxia type 2 (SCA2) was located precisely in the center of the positive region on chromosome 12. Further analysis of SCA2 revealed heterozygous pathological CAG expansions in the family. The affected individuals' symptoms were typical of parkinsonism, but complex. Inverse correlation between CAG repeat size and age of onset is not obvious in this pedigree. This parkinsonism-predominant SCA2 family shared the same disease gene locus with other 'standard' SCA2 families, but it is possible that variations in one or more modifier genes might account for the parkinsonism-predominant SCA2 predisposition observed in this pedigree.

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

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    LI Jing

    2012-06-01

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

  6. 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

  7. The bovine 5' AMPK gene family: mapping and single nucleotide polymorphism detection.

    Science.gov (United States)

    McKay, Stephanie D; White, Stephen N; Kata, Srinivas R; Loan, Raymond; Womack, James E

    2003-12-01

    The 5'-AMP-activated protein kinase (AMPK) family is an ancient stress response system whose primary function is regulation of cellular ATP. Activation of AMPK, which is instigated by environmental and nutritional stresses, initiates energy-conserving measures that protect the cell by inhibition and phosphorylation of key enzymes in energy-consuming biochemical pathways. The seven genes that comprise the bovine AMPK family were mapped in cattle by using a radiation hybrid panel. The seven genes mapped to six different cattle chromosomes, each with a LOD score greater than 10.0. PRKAA1 mapped to BTA 20, PRKAA2 and PRKAB2 to BTA 3, PRKAB1 to BTA 17, PRKAG1 to BTA 5, PRKAG2 to BTA 4, and PRKAG3 to BTA 2. Five of the seven genes mapped to regions expected from human/cattle comparative maps. PRKAB2 and PRKAG3, however, have not been mapped in humans. We predict these genes to be located on HSA 1 and 2, respectively. Additionally, one synonymous and one non-synonymous single nucleotide polymorphism (SNP) were detected in PRKAG3 in Bos taurus cattle. In an effort to determine ancestral origins, various herds of mixed breed cattle as well as other ruminant species were characterized for sequence variation in this region of PRKAG3. Owing to the physiological importance of this gene family, we believe that its individual genes are candidate genes for conferring resistance to diseases in cattle.

  8. 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; ZHOU Xueyan; LI Yang; ZHAO Dan; LIANG Shuyuan; ZHAO Xuejian; YANG Baoxue

    2005-01-01

    Urea transporters are a group of proteins that facilitate urea movement across biological membranes. Kidd blood group (JK antigen) and urea transporter of human erythrocytes are carried by the same protein UT-B. To investigate the molecular basis of the Jknull phenotype in the Chinese population, blood samples from Chinese individuals were screened using the 2 mol/L urea solution hemolysis test. Urea and water permeability of erythrocytes membrane was measured by stopped-flow light scattering. Genomic DNA was extracted from lymphocytes. UT-B gene of Jknull's family was analyzed using genomic PCR by primers designed to cover sequences of all exons and exon-intron boundaries in human UT-B gene. One Jknull subject was found from twenty thousand screened Chinese individuals, and it was confirmed that this individual did not express the erythrocyte urea transporter. Genomic sequence analysis of the Jknull individual showed that there were two point mutations, G→C, which is novel, and G→A, at the 3(-acceptor splice site (AG) of intron 5 of UT-B gene. Exon 6 is spliced out in the UT-B transcript due to either of these mutations. Water permeability in Jknull erythrocytes (Pf, ~0.00037 cm/s) was significantly lower than that in normal erythrocytes (Pf, ~0.00062 cm/s) after HgCl2 incubation, providing evidence for UT-B facilitated water transport in human erythrocytes.

  9. Three novel mutations of APC gene in Chinese patients with familial adenomatous polyposis.

    Science.gov (United States)

    Liu, Qi; Li, Xiaoxia; Li, Sen; Qu, Shengqiang; Wang, Yu; Tang, Qingzhu; Ma, Hongwei; Luo, Yang

    2016-08-01

    Familial adenomatous polyposis (FAP) is an autosomal dominant disorder characterized by the development of hundreds to thousands of colonic adenomas and an increased risk of colorectal cancer. Adenomatous polyposis coli (APC), encoding a large multidomain protein involved in antagonizing the Wnt signaling pathway, has been identified as the main causative gene responsible for FAP. In this study, we identified three novel mutations as well as two recurrent mutations in the APC in five Chinese FAP families by sequencing. Immunohistochemical analysis revealed that among these mutations, a nonsense mutation (c.2510C>G) and two small deletions (c.2016_2047del, c.3180_3184del) led to the truncation of the APC protein and the cytoplasmic and nuclear accumulation of β-catenin in the colorectal samples from affected individuals, respectively. Our study expands the database on mutations of APC and provides evidence to understand the function of APC in FAP.

  10. 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

  11. 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.

  12. Recombination analysis of autosomal short tandem repeats in Chinese Han families.

    Science.gov (United States)

    Liu, Qiu-Ling; Luo, Hong; Zhao, Hu; Huang, Xiao-Ling; Cheng, Jian-Ding; Lu, De-Jian

    2014-03-01

    Recombination fractions between forensic STRs can be extrapolated from the International HapMap Project, but the concordance between recombination fractions predicated from genetic maps and derived from observation of STR transmissions in families is still ambiguous for autosomal STRs because of limited family studies. Therefore, the main goal of this study is to compare recombination fractions estimated by pedigree analysis with those derived from HapMap phase SNP data. Genotypes of nine autosomal STR pairs (TPOX-D2S1772, D5S818-CSF1PO, D7S3048-D7S820, D8S1132-D8S1179, TH01-D11S2368, vWA-D12S391, D13S325-D13S317, D18S51-D18S1364, and D21S11-PentaD) from 207 two-generation families with two to five children (the number of families with five, four, three, and two children was 2, 3, 20, and 182, respectively) were used to analyze the recombination. The linkage analysis showed that significant linkage was observed at six STR pairs (D5S818-CSF1PO, D8S1132-D8S1179, TH01-D11S2368, vWA-D12S391, D13S325-D13S317, and D18S51-D18S1364) with genetic distances HapMap. Their recombination fractions calculated from family data were very close to those derived from HapMap. However, three STR pairs of TPOX-D2S1772, D7S3048-D7S820, and D21S11-PentaD showed no significant linkage with genetic distances from 43.38 to 91.49 cM. Our results indicate that recombination fractions extrapolated from HapMap can provide a substitute if empirical data are unavailable for the linkage STR pair with a genetic distance spanned <36.22 cM.

  13. Perceived family perceptions of breastfeeding and Chinese new mothers' breastfeeding behaviors.

    Science.gov (United States)

    Lu, Hong; Li, Hongyan; Ma, Shuqin; Xia, Lijuan; Christensson, Kyllike

    2011-11-01

    To provide an understanding of Chinese new mothers' breastfeeding behaviors and especially to explore the relationship between the mothers perceived family perception about breastfeeding and the new mothers' breastfeeding behaviors. A cross-sectional questionnaire survey was conducted in Beijing and Yinchuan, the capital of Ning Xia Province, China. 214 new mothers with a baby at the age of 4 months were recruited to the study. The family perception of breastfeeding scale and the new mothers' breastfeeding behavior record were used. The response rate was n=200, 94%. Most of the new mothers perceived positive family perceptions about breastfeeding with an average score of 23.13 using the family perception of breastfeeding scale. Nearly half of the respondents reported that they exclusively breastfed their infants (n=94, 47%). The main reason for breastfeeding difficulty was inadequate lactation (n=56, 69%). The new mothers who breastfed their infants mentioned significantly stronger family perceptions/support compared to those who used mixed feeding or artificial feeding (p0.05) in the types of mothers' feeding behaviors across the different age group, occupation, ethnicity, educational level, mode of delivery, the time of the baby's first suck, bottle feeding before the baby's first suck and the time of having colostrums. It is suggested to develop some strategies, such as family-centered antenatal and postnatal education programmes, to increase the rate of exclusive breastfeeding by influencing new mothers' families about breastfeeding. Further research is needed to explore socio-demographic variables associated with new-mothers' breastfeeding behaviors. Copyright © 2011 Elsevier B.V. All rights reserved.

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

    Institute of Scientific and Technical Information of China (English)

    廉姜芳; 崔长琮; 薛小临; 黄辰; 崔翰斌

    2004-01-01

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

  15. A Novel Insertion Variant of CRYGD Is Associated with Congenital Nuclear Cataract in a Chinese Family.

    Science.gov (United States)

    Zhuang, Xiaotong; Wang, Lianqing; Song, Zixun; Xiao, Wei

    2015-01-01

    To investigate a novel insertion variant of CRYGD identified in a Chinese family with nuclear congenital cataract. A Chinese family with congenital nuclear cataract was recruited for the mutational screening of candidate genes by direct sequencing. Recombinant N-terminal Myc tagged wildtype or mutant CRYGD was expressed in HEK293T cells. The expression pattern, protein solubility and subcellular distribution were analyzed by western blotting and immunofluorescence. A novel insertion variant, c.451_452insGACT, in CRYGD was identified in the patients. It causes a frameshift and a premature termination of the polypeptide to become Y151*. A significantly reduced solubility was observed for this mutant. Unlike wildtype CRYGD, which existed mainly in the cytoplasm, Y151* was mis-located in the nucleus. We have identified a novel mutation, c.451_452insGACT, in CRYGD, which is associated with nuclear cataract. This is the first insertion mutation of CRYGD found to cause autosomal dominant congenital cataract. The mutant protein, with loss of solubility and localization to the nucleus, is hypothesized to be the major cause of cataract in these patients.

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

    Science.gov (United States)

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

    2014-11-01

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

  17. Clinical and genetic analysis for a Chinese family with hereditary fructose intolerance.

    Science.gov (United States)

    Chi, Zhen-Ni; Hong, Jie; Yang, Jun; Zhang, Hui-Jie; Dai, Meng; Cui, Bin; Zhang, Yu; Gu, Wei-Qiong; Zhang, Yi-Fei; Liu, Qiao-Rui; Wang, Wei-Qing; Li, Xiao-Ying; Ning, Guang

    2007-08-01

    Hereditary fructose intolerance (HFI) is an inheritable disorder of fructose metabolism, inherited as an autosomal recessive disorder and caused by catalytic deficiency of aldolase B, which is critical for gluconeogenesis and fructose metabolism. The affected individuals develop severe hypoglycemia after taking foods containing fructose and cognate sugars. The exons 2-9 of the aldolase B (gene symbol ALDOB) gene from one Chinese HFI patient were amplified by the polymerase chain reaction (PCR), and direct sequence determination was applied to the amplified fragments. The mutation of a 4-bp (AACA) deletion (479_482 del) in exon 4 of ALDOB gene was identified in the patient, which had been reported to cause a frameshift at codon 118 and a truncated protein of 132 amino acids in the previous study. Then, the second case with the same homozygote deletion and eight cases with heterozygotes had been found through screening for the mutation c.479_482 del AACA in the whole family. This is the first report of HFI with the mutation c.479_482 del AACA in the ALDOB gene in a Chinese family.

  18. Coparenting in immigrant Chinese Canadian families: the role of discrepancies in acculturation and expectations for adolescent assistance.

    Science.gov (United States)

    Chance, Lauren J; Costigan, Catherine L; Leadbeater, Bonnie J

    2013-12-01

    For immigrant families, differential acculturation between mothers and fathers may present challenges to parenting adolescents. The current study investigated the concurrent relations among discrepancies in parental acculturation, discrepancies in parental expectations for adolescents, and coparenting quality with a sample of 162 married immigrant Chinese Canadian couples with adolescents (mean age = 14.94 years; SD = 1.73). Acculturation was assessed as parents' behavioral involvement in both Canadian and Chinese cultures. As predicted, mother-father differences in acculturation (in relation to both cultures) were related to discrepant expectations for how much adolescents should assist the family. Further, mother-father differences in Chinese acculturation were related to fathers' perceptions of a poorer coparenting relationship. Finally, this relation was partially mediated by discrepant parental expectations for adolescent assistance. Implications for parenting roles, enculturation, family dynamics, and intervention are considered.

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

    Institute of Scientific and Technical Information of China (English)

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

    2008-01-01

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

  20. Comparative gene mapping in cattle, Indian muntjac, and Chinese muntjac by fluorescence in situ hybridization.

    Science.gov (United States)

    Murmann, Andrea E; Mincheva, Antoaneta; Scheuermann, Markus O; Gautier, Mathieu; Yang, Fentang; Buitkamp, Johannes; Strissel, Pamela L; Strick, Reiner; Rowley, Janet D; Lichter, Peter

    2008-11-01

    The Indian muntjac (Muntiacus muntjak vaginalis) has a karyotype of 2n = 6 in the female and 2n = 7 in the male. The karyotypic evolution of Indian muntjac via extensive tandem fusions and several centric fusions are well documented by molecular cytogenetic studies mainly utilizing chromosome paints. To achieve higher resolution mapping, a set of 42 different genomic clones coding for 37 genes and the nucleolar organizer region were used to examine homologies between the cattle (2n = 60), human (2n = 46), Indian muntjac (2n = 6/7) and Chinese muntjac (2n = 46) karyotypes. These genomic clones were mapped by fluorescence in situ hybridization (FISH). Localization of genes on all three pairs of M. m. vaginalis chromosomes and on the acrocentric chromosomes of M. reevesi allowed not only the analysis of the evolution of syntenic regions within the muntjac genus but also allowed a broader comparison of synteny with more distantly related species, such as cattle and human, to shed more light onto the evolving genome organization.

  1. 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.

  2. A R54L mutation of CRYAA associated with autosomal dominant nuclear cataracts in a Chinese family.

    Science.gov (United States)

    Yang, Zhenfei; Su, Dongmei; Li, Qian; Ma, Zicheng; Yang, Fan; Zhu, Siquan; Ma, Xu

    2013-12-01

    To identify the genetic defect in a three-generation Chinese family with congenital cataracts. The phenotype of a three-generation Chinese family with congenital cataract was recruited. Detailed family history and clinical data of the family were recorded. Candidate genes sequencing was performed to screen out the disease-causing mutation. Bioinformatics analysis was performed to predict the function of mutant gene. The phenotype of the family was identified as nuclear cataract. Direct sequencing revealed a c.161 G > T transversion in exon 1 of crystallin alpha-A (CRYAA). This mutation co-segregated with all affected individuals in the family and was not found in unaffected family members nor in the 100 unrelated controls. Bioinformatics analysis indicated that the 54th amino acid position was highly conserved and the mutation R54L caused an increase of local hydrophobicity around the substitution site. This study identified a novel disease-causing mutation c.161 G > T (p.R54L) in CRYAA in a Chinese family with autosomal dominant nuclear cataracts, this is the first report relating a G > T mutation in CRYAA leading to congenital nuclear cataract.

  3. 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.

  4. The uses of emotion maps in research and clinical practice with families and couples: methodological innovation and critical inquiry.

    Science.gov (United States)

    Gabb, Jacqui; Singh, Reenee

    2015-03-01

    We explore how "emotion maps" can be productively used in clinical assessment and clinical practice with families and couples. This graphic participatory method was developed in sociological studies to examine everyday family relationships. Emotion maps enable us to effectively "see" the dynamic experience and emotional repertoires of family life. Through the use of a case example, in this article we illustrate how emotion maps can add to the systemic clinicians' repertoire of visual methods. For clinicians working with families, couples, and young people, the importance of gaining insight into how lives are lived, at home, cannot be understated. Producing emotion maps can encourage critical personal reflection and expedite change in family practice. Hot spots in the household become visualized, facilitating dialogue on prevailing issues and how these events may be perceived differently by different family members. As emotion maps are not reliant on literacy or language skills they can be equally completed by parents and children alike, enabling children's perspective to be heard. Emotion maps can be used as assessment tools, to demonstrate the process of change within families. Furthermore, emotion maps can be extended to use through technology and hence are well suited particularly to working with young people. We end the article with a wider discussion of the place of emotions and emotion maps within systemic psychotherapy. © 2014 The Authors. Family Process published by Wiley Periodicals, Inc. on behalf of Family Process Institute.

  5. Approximating common random fixed point for two finite families of asymptotically nonexpansive random mappings

    Directory of Open Access Journals (Sweden)

    R.A. Rashwan

    2014-07-01

    Full Text Available The aim of this paper is to study weak and strong convergence of an implicit random iterative process with errors to a common random fixed point of two finite families of asymptotically nonexpansive random mappings in a uniformly convex separable Banach space.

  6. A new family of four-dimensional symplectic and integrable mappings

    NARCIS (Netherlands)

    Capel, H.W.; Sahadevan, R.

    2001-01-01

    We investigate the generalisations of the Quispel, Roberts and Thompson (QRT) family of mappings in the plane leaving a rational quadratic expression invariant to the case of four variables. We assume invariance of the rational expression under a cyclic permutation of variables and we impose a sympl

  7. New Hybrid Iterative Schemes for an Infinite Family of Nonexpansive Mappings in Hilbert Spaces

    Directory of Open Access Journals (Sweden)

    Guo Baohua

    2010-01-01

    Full Text Available We propose some new iterative schemes for finding common fixed point of an infinite family of nonexpansive mappings in a Hilbert space and prove the strong convergence of the proposed schemes. Our results extend and improve ones of Nakajo and Takahashi (2003.

  8. A new composite implicit iterative process for a finite family of nonexpansive mappings in Banach spaces

    Directory of Open Access Journals (Sweden)

    Gu Feng

    2006-01-01

    Full Text Available The purpose of this paper is to study the weak and strong convergence of implicit iteration process with errors to a common fixed point for a finite family of nonexpansive mappings in Banach spaces. The results presented in this paper extend and improve the corresponding results of Chang and Cho (2003, Xu and Ori (2001, and Zhou and Chang (2002.

  9. Modified Hybrid Algorithm for a Family of Quasi- -Asymptotically Nonexpansive Mappings

    Directory of Open Access Journals (Sweden)

    Zhang Xin

    2010-01-01

    Full Text Available The purpose of this paper is to propose a modified hybrid projection algorithm and prove strong convergence theorems for a family of quasi- -asymptotically nonexpansive mappings. The method of the proof is different from the original one. Our results improve and extend the corresponding results announced by Zhou et al. (2010, Kimura and Takahashi (2009, and some others.

  10. Novel phenotypes of NF1 patients from unrelated Chinese families with tibial pseudarthrosis and anemia.

    Science.gov (United States)

    Banerjee, Santasree; Lei, Dongzhu; Liang, Shengran; Yang, Li; Liu, Saijun; Wei, Zhu; Tang, Jian Ping

    2016-12-14

    Neurofibromatosis type 1 (NF1) is an autosomal dominant, multi-system, neurocutaneous disorder, manifested with neurofibromas and Cafe´-au-lait spots. Germline mutations in NF1 gene are associated with Neurofibromatosis type 1. NF1 gene encodes neurofibromin, a RAS-specific GTPase activating protein. In our study, we present a clinical molecular study of four Chinese probands with NF1 from four unrelated families, showing extreme phenotypic variation with rare phenotype. In family 1, the proband is a 16 months old girl with multiple café-au-lait spots throughout her whole body. In family 2, the proband is a 6 months old girl with several café-au-lait spots mostly in her trunk and in lower limbs. In family 3, the proband is a 4 months old boy with several café-au-lait spots, tibial pseudarthrosis, and chronic iron deficiency anemia. In family 4, the proband is a 14 years old boy with multiple café-au-lait spots of variable sizes. Targeted exome capture based next generation sequencing and Sanger sequencing identified a novel mutation and three previously reported mutations in these four probands. These four mutations in NF1 gene were causing disease phenotypes in these four probands and was absent in unaffected family members and in healthy controls. According to the variant interpretation guideline of American College of Medical Genetics and Genomics (ACMG), these four mutations, are classified as "likely pathogenic". Our result expands the mutational spectrum of the NF1 gene associated with neurofibromatosis type1.

  11. Model selection for quantitative trait loci mapping in a full-sib family

    Directory of Open Access Journals (Sweden)

    Chunfa Tong

    2012-01-01

    Full Text Available Statistical methods for mapping quantitative trait loci (QTLs in full-sib forest trees, in which the number of alleles and linkage phase can vary from locus to locus, are still not well established. Previous studies assumed that the QTL segregation pattern was fixed throughout the genome in a full-sib family, despite the fact that this pattern can vary among regions of the genome. In this paper, we propose a method for selecting the appropriate model for QTL mapping based on the segregation of different types of markers and QTLs in a full-sib family. The QTL segregation patterns were classified into three types: test cross (1:1 segregation, F2 cross (1:2:1 segregation and full cross (1:1:1:1 segregation. Akaike's information criterion (AIC, the Bayesian information criterion (BIC and the Laplace-empirical criterion (LEC were used to select the most likely QTL segregation pattern. Simulations were used to evaluate the power of these criteria and the precision of parameter estimates. A Windows-based software was developed to run the selected QTL mapping method. A real example is presented to illustrate QTL mapping in forest trees based on an integrated linkage map with various segregation markers. The implications of this method for accurate QTL mapping in outbred species are discussed.

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

    Institute of Scientific and Technical Information of China (English)

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

    2012-01-01

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

  13. Seeking harmony in the provision of care to the stroke-impaired: views of Chinese family caregivers.

    Science.gov (United States)

    Lee, Regina L T; Mok, Esther S B

    2011-05-01

    To explore the coping strategies of Chinese family caregivers of stroke-impaired older relatives. Many stroke-impaired patients rely heavily on support from their families, and the daily lives of such family caregivers are severely impacted. However, services and support for family caregivers of stroke-impaired relatives in the home setting have received little attention. Appropriate and relevant information and support to family caregivers are important in facilitating the care-giving task. It is, therefore, necessary to understand the nature and demands of care-giving before planning specific educational and support programmes. Grounded theory. Fifteen Chinese family caregivers of stroke-impaired older relatives were recruited and interviewed in 2003 and 2004. Theoretical sampling and constant comparative analysis were used to recruit the sample and perform data analysis. Seeking harmony to provide care for the stroke-impaired was the core category for describing and guiding the family care-giving process, with five main stages: (1) living with ambiguity, (2) monitoring the recovery progress, (3) accepting the downfalls, (4) meeting family obligations and (5) reconciling with harmony. These issues were seldom discussed openly with health professionals. The findings indicated that Chinese family caregivers determine their own needs by seeking harmony to continue to provide care without thinking about getting help from others or their own health problems. These findings help to define some of the complex dynamics that have an impact on the development of partnership care and might challenge nurses practising in the community. Community nurses should assess and understand the coping strategies of family caregivers and assist them to engage in stress-reducing practices. This is an important partnership to be formed in stroke care for family caregivers in the community. The study findings will guide further development of family care-giving aspects in nursing practice

  14. 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.

  15. 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

  16. A novel frameshift mutation in CX46 associated with hereditary dominant cataracts in a Chinese family

    Directory of Open Access Journals (Sweden)

    Xiu-Kun Cui

    2017-05-01

    Full Text Available AIM: To investigate the genetic mutations that are associated the hereditary autosomal dominant cataract in a Chinese family. METHODS: A Chinese family consisting of 20 cataract patients (including 9 male and 11 female and 2 unaffected individuals from 5 generations were diagnosed to be a typical autosomal dominant cataract pedigree. Genomic DNA samples were extracted from the peripheral blood cells of the participants in this pedigree. Exon sequence was used for genetic mutation screening. In silico analysis was used to study the structure characteristics of connexin 46 (CX46 mutant. Immunoblotting was conduceted for testing the expression of CX46. RESULTS: To determine the involved genetic mutations, 11 well-known cataract-associated genes (cryaa, cryab, crybb1, crybb2, crygc, crygd, Gja3, Gja8, Hsf4, Mip and Pitx3 were chosen for genetic mutation test by using exon sequencing. A novel cytosine insertion at position 1195 of CX46 cDNA (c.1194_1195ins C was found in the samples of 5 tested cataract patients but not in the unaffected 2 individuals nor in normal controls, which resulted in 30 amino acids more extension in CX46C-terminus (cx46fs400 compared with the wild-type CX46. In silico protein structure analysis indicated that the mutant showed distinctive hydrophobicity and protein secondary structure compared with the wild-type CX46. The immunoblot results revealed that CX46 protein, which expressed in the aging cataract lens tissues, was absence in the proband lens. In contrast, CX50, alpha A-crystallin and alphaB-crystallin expressed equally in both proband and aging cataract tissues. Those results revealed that the cx46fs400 mutation could impair CX46 protein expression. CONCLUSION: The insertion of cytosine at position 1195 of CX46 cDNA is a novel mutation site that is associated with the autosomal dominant cataracts in this Chinese family. The C-terminal frameshift mutation is involved in regulating CX46 protein expression.

  17. Gene mapping in an anophthalmic pedigree of a consanguineous Pakistani family opened new horizons for research

    Directory of Open Access Journals (Sweden)

    Saleha S

    2016-07-01

    Full Text Available Clinical anophthalmia is a rare inherited disease of the eye and phenotype refers to the absence of ocular tissue in the orbit of eye. Patients may have unilateral or bilateral anophthalmia, and generally have short palpebral fissures and small orbits. Anophthalmia may be isolated or associated with a broader syndrome and may have genetic or environmental causes. However, genetic cause has been defined in only a small proportion of cases, therefore, a consanguineous Pakistani family of the Pashtoon ethnic group, with isolated clinical anophthalmia was investigated using linkage mapping. A family pedigree was created to trace the possible mode of inheritance of the disease. Blood samples were collected from affected as well as normal members of this family, and screened for disease-associated mutations. This family was analyzed for linkage to all the known loci of clinical anophthalmia, using microsatellite short tandem repeat (STR markers. Direct sequencing was performed to find out disease-associated mutations in the candidate gene. This family with isolated clinical anophthalmia, was mapped to the SOX2 gene that is located at chromosome 3q26.3-q27. However, on exonic and regulatory regions mutation screening of the SOX2 gene, the disease-associated mutation was not identified. It showed that another gene responsible for development of the eye might be present at chromosome 3q26.3-q27 and needs to be identified and screened for the disease-associated mutation in this family.

  18. A novel single-base deletion mutation of the RUNX2 gene in a Chinese family with cleidocranial dysplasia.

    Science.gov (United States)

    Fang, C Y; Xue, J J; Tan, L; Jiang, C H; Gao, Q P; Liang, D S; Wu, L Q

    2011-12-14

    We identified a disease-causing mutation of the RUNX2 gene in a four-generation Chinese family affected with cleidocranial dysplasia (CCD). For mutation analysis, the coding region of RUNX2 was sequenced with DNA from two patients and three unaffected family members. The RUNX2 mutation was investigated in 50 normal controls by denaturing high pressure liquid chromatography. A heterozygous single-base deletion (c.549delC) of RUNX2, which predicts a termination site at the 185th codon and leads to a stop in the runt domain of RUNX2 protein, was detected in both patients but not in the three unaffected members of the family. This mutation was also not found in 50 controls and has not been reported previously. We demonstrated that a novel mutation (c.549delC) of RUNX2 is associated with CCD in a Chinese family, adding to the repertoire of RUNX2 mutations related to CCD.

  19. Germline mutations in MAP3K6 are associated with familial gastric cancer.

    Directory of Open Access Journals (Sweden)

    Daniel Gaston

    2014-10-01

    Full Text Available Gastric cancer is among the leading causes of cancer-related deaths worldwide. While heritable forms of gastric cancer are relatively rare, identifying the genes responsible for such cases can inform diagnosis and treatment for both hereditary and sporadic cases of gastric cancer. Mutations in the E-cadherin gene, CDH1, account for 40% of the most common form of familial gastric cancer (FGC, hereditary diffuse gastric cancer (HDGC. The genes responsible for the remaining forms of FGC are currently unknown. Here we examined a large family from Maritime Canada with FGC without CDH1 mutations, and identified a germline coding variant (p.P946L in mitogen-activated protein kinase kinase kinase 6 (MAP3K6. Based on conservation, predicted pathogenicity and a known role of the gene in cancer predisposition, MAP3K6 was considered a strong candidate and was investigated further. Screening of an additional 115 unrelated individuals with non-CDH1 FGC identified the p.P946L MAP3K6 variant, as well as four additional coding variants in MAP3K6 (p.F849Sfs*142, p.P958T, p.D200Y and p.V207G. A somatic second-hit variant (p.H506Y was present in DNA obtained from one of the tumor specimens, and evidence of DNA hypermethylation within the MAP3K6 gene was observed in DNA from the tumor of another affected individual. These findings, together with previous evidence from mouse models that MAP3K6 acts as a tumor suppressor, and studies showing the presence of somatic mutations in MAP3K6 in non-hereditary gastric cancers and gastric cancer cell lines, point towards MAP3K6 variants as a predisposing factor for FGC.

  20. 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.

  1. Detecting novel genetic mutations in Chinese Usher syndrome families using next-generation sequencing technology.

    Science.gov (United States)

    Qu, Ling-Hui; Jin, Xin; Xu, Hai-Wei; Li, Shi-Ying; Yin, Zheng-Qin

    2015-02-01

    Usher syndrome (USH) is the most common cause of combined blindness and deafness inherited in an autosomal recessive mode. Molecular diagnosis is of great significance in revealing the molecular pathogenesis and aiding the clinical diagnosis of this disease. However, molecular diagnosis remains a challenge due to high phenotypic and genetic heterogeneity in USH. This study explored an approach for detecting disease-causing genetic mutations in candidate genes in five index cases from unrelated USH families based on targeted next-generation sequencing (NGS) technology. Through systematic data analysis using an established bioinformatics pipeline and segregation analysis, 10 pathogenic mutations in the USH disease genes were identified in the five USH families. Six of these mutations were novel: c.4398G > A and EX38-49del in MYO7A, c.988_989delAT in USH1C, c.15104_15105delCA and c.6875_6876insG in USH2A. All novel variations segregated with the disease phenotypes in their respective families and were absent from ethnically matched control individuals. This study expanded the mutation spectrum of USH and revealed the genotype-phenotype relationships of the novel USH mutations in Chinese patients. Moreover, this study proved that targeted NGS is an accurate and effective method for detecting genetic mutations related to USH. The identification of pathogenic mutations is of great significance for elucidating the underlying pathophysiology of USH.

  2. 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.

  3. Digital inequalities of family life information seeking and family well-being among Chinese adults in Hong Kong: a population survey.

    Science.gov (United States)

    Wang, Man Ping; Wang, Xin; Viswanath, Kasisomayajula; Wan, Alice; Lam, Tai Hing; Chan, Sophia S

    2014-10-03

    Inequalities in Internet use and health information seeking are well documented, but less is known about information for family life activities. We investigated the social determinants of online family life information seeking behaviors and its associations with family well-being among Chinese adults in Hong Kong. A probability-based telephone survey was conducted in 2012 to record family life information seeking behaviors, including frequency of seeking and paying attention to family life information, levels of trust, and perceived usefulness of family life information. Family well-being was assessed using 3 single items on perceived family harmony, happiness, and health, with higher scores indicating greater well-being. Adjusted odds ratios for family life information seeking behaviors by socioeconomic characteristics and lifestyle behaviors, and adjusted beta coefficients for family well-being by family life information seeking behaviors were calculated. Of 1537 respondents, 57.57% (855/1537) had ever and 26.45% (407/1537) sought monthly family life information through the Internet. Lower educational attainment and household income, smoking, and physical inactivity were associated with less frequent seeking and paying attention (all Pinformation. Frequent attention and higher level of trust were also associated with greater family harmony (adjusted β=.22, 95% CI .002-.41) and happiness (adjusted β=.23, 95% CI .003-.42), respectively. This is the first study investigating family life information seeking behaviors and suggested inequalities of online family life information seeking behaviors. The association between family life information seeking behavior and family well-being needs to be confirmed in prospective studies.

  4. Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing

    OpenAIRE

    Jiang,Bo; chen, Yanhua; Baisheng XU; Hong, Nan; Liu, Rongrong; Qi, Ming; Shen, Liping

    2017-01-01

    Congenital cataract is both clinically diverse and genetically heterogeneous. To investigate the underlying genetic defect in three-generations of a Chinese family with autosomal dominant congenital cataracts, we recruited family members who underwent comprehensive ophthalmic examinations. A heterozygous missense mutation c.634G > C (p.G212R) substitution was identified in the MIP gene through target region capture sequencing. The prediction results of PolyPhen-2 and SIFT indicated that this ...

  5. 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

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

    Institute of Scientific and Technical Information of China (English)

    2000-01-01

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

  7. 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.

  8. A missense mutation of HOXA13 underlies hand-foot-genital syndrome in a Chinese family

    Indian Academy of Sciences (India)

    LIHUA CAO; CHEN CHEN; YUNJI LENG; LULU YAN; SHUSEN WANG; XUE ZHANG; YANG LUO

    2017-09-01

    Hand-foot-genital syndrome (HFGS) is a rare autosomal dominant inherited syndrome characterized by limb malformations and urogenital defects. HFGS is caused by mutations in the HOXA13 gene. The aim of this study was to identifycausative mutations in individuals and to explore the molecular pathogenesis in a Chinese family with HFGS. We performed Sanger sequencing and identified a recurrent missense mutation in the homeodomain (c.1123G>T, p.V375F) of HOXA13, molecular modelling predicted the mutation would affect DNA binding, and a luciferase reporter assay indicated that it impaired the ability ofHOXA13 to activate transcription of the human EPHA7 promoter. This is the first report of the molecular basis for HFGS caused by missense mutations of HOXA13.

  9. 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.

  10. Parent engagement in youth drug prevention in Chinese families: advancement in program development and evaluation.

    Science.gov (United States)

    Tsang, Sandra K M

    2011-01-01

    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.

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

    Science.gov (United States)

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

    2016-04-01

    Little is known about the experience of Chinese parents of children diagnosed with autism spectrum disorders (ASD) living in the Hong Kong Special Administrative Region. Seventy-five parents of children (aged 6 months-18 years) with ASD diagnoses completed the Family Quality of Life Scale. Forty-five parents from the original surveyed cohort, also participated in semi-structured interviews. Parents' perceptions of their child's disability were influenced both by their cultural background and by the limited and expensive, pre- and post-diagnostic services available. Longer waiting times to diagnosis were associated with lower emotional well-being and perceived disability-related support. Clinicians are encouraged to become part of the support network for parents of children with ASD, to help parents to adjust to caring for their child.

  12. Optimizing Chinese character displays improves recognition and reading performance of simulated irregular phosphene maps.

    Science.gov (United States)

    Lu, Yanyu; Kan, Han; Liu, Jie; Wang, Jing; Tao, Chen; Chen, Yao; Ren, Qiushi; Hu, Jie; Chai, Xinyu

    2013-04-26

    A visual prosthesis may elicit an irregular phosphene map relative to a regular electrode array. This study used simulated irregular phosphene maps as a way of optimizing the display methods of Chinese characters (CCs) to improve recognition and reading performance. TWENTY SUBJECTS WITH NORMAL OR CORRECTED SIGHT PARTICIPATED IN TWO EXPERIMENTS (9 FEMALES, 11 MALES, 2030 YEARS OF AGE). EXPERIMENT 1: two character display methods were proposed: selecting phosphenes covered by character strokes on a simulated phosphene array (projection method) and finding the phosphene closest to the expected location in some range of an irregular phosphene array as a substitute (nearest neighbor search [NNS] method). The recognition accuracy of CCs was investigated using six levels for the coverage ratio of stroke and phosphene area and for search range, respectively, for two methods, for several irregularity levels. Experiment 2: reading accuracy (RA) and reading efficiency (RE) were measured using the regular array correspondence and NNS methods. EXPERIMENT 1: projection and NNS methods were significantly affected by coverage ratio or search range. NNS significantly improved CC recognition accuracy to the highest at 81.3 ± 2.7% and 59.1 ± 5.2%, respectively, for different irregularity levels, compared with the projection method. Experiment 2: RA and RE significantly decreased as the distortion level increased; NNS significantly improved RA (from approximately 40% to >80%) and RE (from approximately 13 char/min to >40 char/min) when reading more irregular paragraphs. The performance of CC recognition and paragraph reading when using an irregular phosphene array can be improved through optimizing the display method.

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

    Science.gov (United States)

    Lau, Anna S.; Fung, Joey J.; Ho, Lorinda Y.; Liu, Lisa L.; Gudino, 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.…

  14. 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…

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

    Science.gov (United States)

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

    2010-09-01

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

  16. Phylogenetic conservation and physical mapping of members of the H6 homeobox gene family.

    Science.gov (United States)

    Stadler, H S; Murray, J C; Leysens, N J; Goodfellow, P J; Solursh, M

    1995-06-01

    Homeobox genes represent a class of transcription factors that play key roles in the regulation of embryogenesis and development. Here we report the identification of a homeobox-containing gene family that is highly conserved at both the nucleotide and amino acid levels in a diverse number of species. These species encompass both vertebrate and invertebrate phylogenies, ranging from Homo sapiens to Drosophila melanogaster. In humans, at least two homeobox sequences from this family were identified representing a previously reported member of this family as well as a novel homeobox sequence that we physically mapped to the 10q25.2-q26.3 region of human Chromosome (Chr) 10. Multiple members of this family were also detected in three additional vertebrate species including Equus caballus (horse), Gallus gallus (Chicken), and Mus musculus (mouse), whereas only single members were detected in Tripneustes gratilla (sea urchin), Petromyzon marinus (lamprey), Salmo salar (salmon), Ovis aries (sheep), and D. melanogaster (fruit fly).

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

    Science.gov (United States)

    Zhang, Jian; Chen, Min; Dong, Xiaoyu; Lin, Ruozhu; Fan, Jianhua; Chen, Zhiduan

    2015-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Jian Zhang

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

  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. On the entropy devil's staircase in a family of gap-tent maps

    OpenAIRE

    Zyczkowski, Karol; Bollt, Erik M.

    1998-01-01

    We analyze dynamical properties of a "gap-tent map" - a family of 1D maps with a symmetric gap, which mimics the presence of noise in physical realizations of chaotic systems. We demonstrate that the dependence of the topological entropy on the size of the gap has a structure of the devil's staircase. By integrating over a fractal measure, we obtain analytical, piece-wise differentiable approximations of this dependence. Applying concepts of the kneading theory we find the position and the va...

  1. On the entropy devil's staircase in a family of gap-tent maps

    CERN Document Server

    Zyczkowski, K; Zyczkowski, Karol; Bollt, Erik M.

    1998-01-01

    We analyze dynamical properties of a "gap-tent map" - a family of 1D maps with a symmetric gap, which mimics the presence of noise in physical realizations of chaotic systems. We demonstrate that the dependence of the topological entropy on the size of the gap has a structure of the devil's staircase. By integrating over a fractal measure, we obtain analytical, piece-wise differentiable approximations of this dependence. Applying concepts of the kneading theory we find the position and the values of the entropy for all leading entropy plateaus. Similar properties hold also for the dependence of the fractal dimension of the invariant set and the escape rate.

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

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    Shaojuan Gu

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

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

    Science.gov (United States)

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

    2013-01-01

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

  4. Mapping of a gene for familial juvenile nephronophthisis: Refining the map and defining flanking markers on chromosome 2

    Energy Technology Data Exchange (ETDEWEB)

    Hildebrandt, F.; Singh-Sawhney, I.; Schnieders, B.; Centofante, L.; Omran, H.; Pohlmann, A.; Schmaltz, C.; Wedekind, H.; Schubotz, D.; Brandis, M. (Freiburg Univ. (Germany)); Antignac, C. (Hopital Necker-Enfants Malades, Paris (France)); Weber, J.L. (Marshfield Medical Foundation, WI (United States))

    1993-12-01

    Familial juvenile nephronophthisis (NPH) is an autosomal recessive kidney disease that leads to end-stage renal failure in adolescence and is associated with the formation of cysts at the cortico-medullary junction of the kidneys. NPH is responsible for about 15% of end-stage renal disease in children, as shown by Kleinknecht and Habib. NPH in combination with autosomal recessive retinitis pigmentosa is known as the Senior-Loken syndrome (SLS) and exhibits renal pathology that is identical to NPH. The authors had excluded 40% of the human genome from linkage with a disease locus for NH or SLS when Antignac et al. first demonstrated linkage for an NPH locus on chromosome 2. The authors present confirmation of linkage of an NPH locus to microsatellite markers on chromosome 2 in nine families with NPH. By linkage analysis with marker AFM262xb5 at locus D2S176, a maximum lod score of 5.05 at a [theta][sub max] = .03 was obtained. In a large NPH family that yielded at D2S176 a maximum lod score of 2.66 at [theta][sub max] = .0, markers AFM172xc3 and AFM016yc5, representing loci D2S135 and D2S110, respectively, were identified as flanking markers, thereby defining the interval for an NPH locus to a region of approximately 15 cM. Furthermore, the cytogenetic assignment of the NPH region was specified to 2p12-(2q13 or adjacent bands) by calculation of linkage between these flanking markers and markers with known unique cytogenic assignment. The refined map may serve as a genetic framework for additional genetic and physical mapping of the region. 26 refs., 3 figs., 1 tab.

  5. Linkage analysis of five Chinese families with arrhythmogenic right ventricular cardiomyopathy using microsatellite genetic markers

    Institute of Scientific and Technical Information of China (English)

    黄峻; 杨春梅; 马立隽; 单其俊; 许迪; 华子春; 曹克将

    2003-01-01

    Objective To explore the linkage relationship between specific genetic markers and arrhythmogenic right ventricular cardiomyopathy (ARVC) in Chinese pedigrees.Methods The microsatellite genetic markers D2S152, D14S252, and D10S1664 were studied for their linkages to ARVC in five Chinese ARVC pedigrees and a normal population of 121 Chinese individuals. Genomic DNA of the pedigrees and normal population was amplified using PCR techniques. Denaturing polyacrylamide sequencing gel (4%) electrophoresis was used to detect microsatellite repeat polymorphisms. Gels were silver-stained. A classical linkage analysis program was used assuming models of autosomal dominance and recession. Results The logarithm of the odds (LOD) scores of D2S152 with ARVC in LW, WD, DS, LC and TY pedigrees were 2.174, -0.589, -∞, - (indicating that linkage is not supported in this mode), and -∞ respectively in autosomal dominant model (recombination fraction=0.000 respectively)and were -∞, -∞, -∞, -∞, and 0.182 respectively in the autosomal recessive model. The LOD scores of D14S252 with ARVC in LW, WD, DS, LC and TY pedigrees were -, -, -∞, -, and 0 respectively in autosomal dominant model, and were -∞, -0.812, -∞, -∞, and 0.087 respectively in autosomal recessive model. The LOD scores of D2S152 with ARVC in LW, WD, DS, LC and TY pedigrees were -, -0.539, -, and 0.602 respectively in autosomal dominant model and were -, -∞, -∞, -∞, and -∞ respectively in autosomal recessive model. Conclusions The LOD score for D2S152 in the LW pedigree was 2.174, indicating that the chance of linkage is about 150∶ 1. This suggests that there is a possible ARVC-related gene near this marker. There were no clear linkage relationships between ARVC and D10S1664 and D14S252 in this family, and no linkages between ARVC and any of the three genetic markers in the other four families. These results also suggest that there is genetic heterogeneity in LW and in the other pedigrees.

  6. A locus for cerebral cavernous malformations maps to chromosome 7q in two families

    Energy Technology Data Exchange (ETDEWEB)

    Marchuk, D.A.; Gallione, C.J. [Duke Univ. Medical Center, Durham, NC (United States); Morrison, L.A.; Davis, L.E.; Clericuzio, C.L. [Univ. of New Mexico School of Medicine, Albuquerque, NM (United States)] [and others

    1995-07-20

    Cavernous malformations (angiomas) affecting the central nervous system and retina can be inherited in autosomal dominant pattern (OMIM 116860). These vascular lesions may remain clinically silent or lead to a number of neurological symptoms including seizure, intracranial hemorrhage, focal neurological deficit, and migraine. We have mapped a gene for this disorder in two families, one of Italian-American origin and one of Mexican-American origin, to markers on proximal 7q, with a combined maximum lod score of 3.92 ({theta} of zero) with marker D7S479. Haplotype analysis of these families places the locus between markers D7S502 proximally and D7S515 distally, an interval of approximately 41 cM. The location distinguishes this disorder from an autosomal dominant vascular malformation syndrome where lesions are primarily cutaneous and that maps to 9p21. 16 refs., 3 figs., 1 tab.

  7. Concept mapping in legal documents. Case study : The translation of family law for Moroccan migrants

    OpenAIRE

    2015-01-01

    Concept mapping in legal documents. Case study : The translation of family law for Moroccan migrants . LaHoussine Id-Youss & Frieda Steurs KU Leuven Abstract : The translation of legal documents is one of the most important activities for many translators. Looking at the internationalization of many activities, mobility of citizens and migration has increased. People migrate for economic reasons, looking for new employments elsewhere. This causes an increased used of new ...

  8. 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.

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

    Science.gov (United States)

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

    2012-07-01

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

  10. Influence of school-level and family-level variables on Chinese college students' aggression.

    Science.gov (United States)

    Zhou, Jiawei; Yang, Jiarun; Yu, Yunmiao; Wang, Lin; Han, Dong; Zhu, Xiongzhao; He, Jincai; Qiu, Xiaohui; Yang, Xiuxian; Qiao, Zhengxue; Sui, Hong; Yang, Yanjie

    2017-08-01

    With the frequent occurrence of campus violence, scholars have devoted increasing attention to college students' aggression. This study aims to estimate the prevalence of aggression in Chinese university students and identify factors that could influence their aggression. We can thus find methods to reduce the incidence of college students' aggression in the future. A multi-stage stratified sampling procedure was used to select university students (N = 4565) aged 16-25 years in Harbin. The Aggression Questionnaire, the Adolescent Self-Rating Life Events Checklist and the Social Support Revalued Scale were used to collect data. Females reported lower levels of aggression than males (p influence of factors of aggression, and the model was highly significant (R(2) = .233, Ad R(2) = .230, p family-level and school-level variables. Aggression scores are significantly correlated with not only family-level or school-level variables independently, but their combination as well. We find that the risk factors for aggression include a dissatisfying profession, higher levels of study pressure, poor parental relationships, poor interpersonal relationships, the presence of siblings, punishment, health maladjustment, less subjective support, and lower levels of utilization of social support.

  11. Differential Diagnosis of Two Chinese Families with Dyschromatoses by Targeted Gene Sequencing

    Institute of Scientific and Technical Information of China (English)

    Jia-Wei Liu; Asan; Jun Sun; Sergio Vano-Galvan; Feng-Xia Liu; Xiu-Xiu Wei; Dong-Lai Ma

    2016-01-01

    Background: The dyschromatoses are a group of disorders characterized by simultaneous hyperpigmented macules together with hypopigmented macules.Dyschromatosis universalis hereditaria (DUH) and dyschromatosis symmetrica hereditaria are two major types.While clinical and histological presentations are similar in these two diseases, genetic diagnosis is critical in the differential diagnosis of these entities.Methods: Three patients initially diagnosed with DUH were included.The gene test was carried out by targeted gene sequencing.All mutations detected on ADAR1 and ABCB6 genes were analyzed according to the frequency in control database, the mutation types, and the published evidence to determine the pathogenicity.Results: Family pedigree and clinical presentations were reported in 3 patients from two Chinese families.All patients have prominent cutaneous dyschromatoses involving the whole body without systemic complications.Different pathogenic genes in these patients with similar phenotype were identified: One novel mutation on ADAR1 (c.1325C>G) and one recurrent mutation in ABCB6 (c.1270T>C), which successfully distinguished two diseases with the similar phenotype.Conclusion: Targeted gene sequencing is an effective tool for genetic diagnosis in pigmentary skin diseases.

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

    Institute of Scientific and Technical Information of China (English)

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

    2007-01-01

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

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

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    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.

  14. Geospatial Information Categories Mapping in a Cross-lingual Environment: A Case Study of “Surface Water” Categories in Chinese and American Topographic Maps

    Directory of Open Access Journals (Sweden)

    Xi Kuai

    2016-06-01

    Full Text Available The need for integrating geospatial information (GI data from various heterogeneous sources has seen increased importance for geographic information system (GIS interoperability. Using domain ontologies to clarify and integrate the semantics of data is considered as a crucial step for successful semantic integration in the GI domain. Nevertheless, mechanisms are still needed to facilitate semantic mapping between GI ontologies described in different natural languages. This research establishes a formal ontology model for cross-lingual geospatial information ontology mapping. By first extracting semantic primitives from a free-text definition of categories in two GI classification standards with different natural languages, an ontology-driven approach is used, and a formal ontology model is established to formally represent these semantic primitives into semantic statements, in which the spatial-related properties and relations are considered as crucial statements for the representation and identification of the semantics of the GI categories. Then, an algorithm is proposed to compare these semantic statements in a cross-lingual environment. We further design a similarity calculation algorithm based on the proposed formal ontology model to distance the semantic similarities and identify the mapping relationships between categories. In particular, we work with two GI classification standards for Chinese and American topographic maps. The experimental results demonstrate the feasibility and reliability of the proposed model for cross-lingual geospatial information ontology mapping.

  15. Familial ventricular aneurysms and septal defects map to chromosome 10p15.

    Science.gov (United States)

    Tremblay, Nicolas; Yang, Shi Wei; Hitz, Marc-Phillip; Asselin, Géraldine; Ginns, Jonathan; Riopel, Kathleen; Gendron, Roxanne; Montpetit, Alexandre; Duhig, Edwina; Dubé, Marie-Pierre; Radford, Dorothy; Andelfinger, Gregor

    2011-03-01

    Although ventricular septal defects (VSD) are the most common congenital heart lesion, familial clustering has been described only in rare instances. The aim of this study was to identify genetic factors and chromosomal regions contributing to VSD. A unique, large kindred segregating various forms of septal pathologies-including VSD, ventricular septal aneurysms, and atrial septal defects (ASD)-was ascertained and characterized clinically and genetically. Eighteen family members in three generations could be studied, out of whom 10 are affected (2 ASD, 3 septal aneurysm, 4 VSD, and 1 tetralogy of Fallot). Parametric multipoint LOD scores reach significance on chromosome 10p15.3-10p15.2 (max. 3.29). The LOD score support interval is in a gene-poor region where deletions have been reported to associate with septal defects, but that is distinct from the DiGeorge syndrome 2 region on 10p. Multiple linkage analysis scenarios suggest that tetralogy of Fallot is a phenocopy and genetically distinct from the autosomal dominant form of septal pathologies observed in this family. This study maps a rare familial form of VSD/septal aneurysms to chromosome 10p15 and extends the spectrum of the genetic heterogeneity of septal pathologies. Fine mapping, haplotype construction, and resequencing will provide a unique opportunity to study the pathogenesis of septal defects and shed light on molecular mechanisms of septal development.

  16. Association Mapping for Fusarium Wilt Resistance in Chinese Asparagus Bean Germplasm

    Directory of Open Access Journals (Sweden)

    Xinyi Wu

    2015-07-01

    Full Text Available Fusarium wilt (FW is an important vascular disease attacking asparagus bean [ (L. Walp. subsp. Sesquipedalis Group] in China. The level and genetic variability of FW resistance in the Chinese asparagus bean germplasm remains elusive. In the current study, FW resistance was assessed across a natural population consisting of 95 asparagus bean and four African cowpea [ (L. Walp. subsp. Unguiculata Group] accessions. The disease index (DI based on the severity of leaf damage (LFD and vascular discoloration (VD varied highly across the population and the highly resistant varieties used for vegetable are very limited. Genome-wide association study identified 11 and seven single nucleotide polymorphisms (SNPs that are associated with LFD and VD traits, respectively. These SNPs were distributed on nine linkage groups of the asparagus bean genome and each accounted for less than 5% of the phenotypic variation. Overall, the nonstandard vegetable (NSV subgene pool harbors favorable alleles in a higher frequency than the standard vegetable (SV subgene pool. Individual NSV-type accessions tend to possess a greater number of favorable alleles than the SV-type ones. A SNP marker 1_0981 was converted to a cleaved amplified polymorphic sequences (CAPS marker to facilitate future breeding. To our knowledge, this is the first report of an association mapping (AM study in asparagus bean. The results obtained suggests that resources for FW resistance is relatively limited in the SV subgene pool; hence, introducing resistant alleles from the NSV accessions into currently leading SV cultivars will be important to improve FW resistance of the latter.

  17. ITIH family genes confer risk to schizophrenia and major depressive disorder in the Han Chinese population.

    Science.gov (United States)

    He, Kuanjun; Wang, Qingzhong; Chen, Jianhua; Li, Tao; Li, Zhiqiang; Li, Wenjin; Wen, Zujia; Qiang, Yu; Wang, Meng; Shen, Jiawei; Song, Zhijian; Ji, Jue; Feng, Guoyin; Qi, Shuguang; Lin, He; Shi, Yongyong; Cheng, Zaohuo

    2014-06-03

    As a major extracellular matrix component, ITIHs played an important role in inflammation and carcinogenesis. Several genome-wide association studies have reported that some positive signals which were derived from the tight linkage disequilibrium region on chromosome 3p21 were associated with both schizophrenia and bipolar disorders in the Caucasian population. To further investigate whether this genomic region is also a susceptibility locus of schizophrenia and major depressive disorder in the Han Chinese population, we conducted this study by recruiting 1235 schizophrenia patients, 1045 major depressive disorder patients and 1235 healthy control subjects in the Han Chinese samples for a case-control study. We genotyped seven SNPs within this region using TaqMan® technology. We found that rs2710322 was significantly associated with schizophrenia (adjusted P(allele) = 0.0018, adjusted P(genotype) = 0.006, OR [95% CI] = 1.278 [1.117-1.462]) while rs1042779 was weakly associated with schizophrenia (adjusted P(allele) = 0.048, OR [95% CI] = 1.164 [1.040-1.303]) and major depressive disorder (adjusted P(allele) = 0.042, OR [95% CI] = 1.178 [1.047-1.326]); it was also our finding that rs3821831 was positively associated with major depressive disorder (adjusted P(allele) = 0.003, adjusted P(genotype) = 0.006, OR [95% CI] = 1.426 [1.156-1.760]). Furthermore, no haplotype was found to be associated with schizophrenia and major depressive disorder. Via the association analysis which combines the schizophrenia and major depressive disorder cases, we also notice that rs1042779 and rs3821831 were significantly associated with combined cases (rs1042779: adjusted P(allele) = 0.012, adjusted P(genotype) = 0.018, OR [95% CI] = 1.171 [1.060-1.292]; rs3821831:adjusted P(genotype) = 0.012, OR [95% CI] = 1.193 [1.010-1.410]). Our results revealed that the shared genetic risk factors of both schizophrenia and major depressive disorder exist in ITIH family genes in the Han Chinese

  18. RAPD linkage mapping in a longleaf pine x slash pine F1 family.

    Science.gov (United States)

    Kubisiak, T L; Nelson, C D; Nance, W L; Stine, M

    1995-06-01

    Random amplified polymorphic DNAs (RAPDs) were used to construct linkage maps of the parent of a longleaf pine (Pinus palustris Mill.) slash pine (Pinus elliottii Englm.) F1 family. A total of 247 segregating loci [233 (1∶1), 14 (3∶1)] and 87 polymorphic (between parents), but non-segregating, loci were identified. The 233 loci segregating 1∶1 (testcross configuration) were used to construct parent-specific linkage maps, 132 for the longleaf-pine parent and 101 for the slash-pine parent. The resulting linkage maps consisted of 122 marker loci in 18 groups (three or more loci) and three pairs (1367.5 cM) for longleaf pine, and 91 marker loci in 13 groups and six pairs for slash pine (952.9 cM). Genome size estimates based on two-point linkage data ranged from 2348 to 2392 cM for longleaf pine, and from 2292 to 2372 cM for slash pine. Linkage of 3∶1 loci to testcross loci in each of the parental maps was used to infer further linkages within maps, as well as potentially homologous counterparts between maps. Three of the longleaf-pine linkage groups appear to be potentially homologous counterparts to four different slash-pine linkage groups. The number of heterozygous loci (previously testcross in parents) per F1 individual, ranged from 96 to 130. With the 87 polymorphic, but non-segregating, loci that should also be heterozygous in the F1 progeny, a maximum of 183-217 heterozygous loci could be available for mapping early height growth (EHG) loci and for applying genomic selection in backcross populations.

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

    Institute of Scientific and Technical Information of China (English)

    Li Qian; Zhang Yongpeng; Jia Liyun; Peng Xiaoyan

    2014-01-01

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

  20. Association of MAP4K4 gene single nucleotide polymorphism with mastitis and milk traits in Chinese Holstein cattle.

    Science.gov (United States)

    Bhattarai, Dinesh; Chen, Xing; Ur Rehman, Zia; Hao, Xingjie; Ullah, Farman; Dad, Rahim; Talpur, Hira Sajjad; Kadariya, Ishwari; Cui, Lu; Fan, Mingxia; Zhang, Shujun

    2017-02-01

    The objective of the studies presented in this Research Communication was to investigate the association of single nucleotide polymorphisms present in the MAP4K4 gene with different milk traits in dairy cows. Based on previous QTL fine mapping results on bovine chromosome 11, the MAP4K4 gene was selected as a candidate gene to evaluate its effect on somatic cell count and milk traits in ChineseHolstein cows. Milk production traits including milk yield, fat percentage, and protein percentage of each cow were collected using 305 d lactation records. Association between MAP4K4 genotype and different traits and Somatic Cell Score (SCS) was performed using General Linear Regression Model of R. Two SNPs at exon 18 (c.2061T > G and c.2196T > C) with genotype TT in both SNPs were found significantly higher for somatic SCS. We found the significant effect of exon 18 (c.2061T > G) on protein percentage, milk yield and SCS. We identified SNPs at different location of MAP4K4 gene of the cattle and several of them were significantly associated with the somatic cell score and other different milk traits. Thus, MAP4K4 gene could be a useful candidate gene for selection of dairy cattle against mastitis and the identified polymorphisms might potentially be strong genetic markers.

  1. NORMAL CRITERION FOR FAMILIES OF HOLOMORPHIC MAPS OF SEVERAL COMPLEX VARIABLES INTO PN(C) WITH MOVING HYPERSURFACES

    Institute of Scientific and Technical Information of China (English)

    Tu Zhenhan; Cao Hongzhe

    2009-01-01

    This article gives a normal criterion for families of holomorphic mappings of several complex variables into PN (C) for moving hypersurfaces in pointwise general position, related to an Eremenko's theorem.

  2. Mapping social capital: a critical contextual approach for working with low-status families.

    Science.gov (United States)

    Garcia, Marisol; McDowell, Teresa

    2010-01-01

    Promoting justice in therapeutic work with families demands an analysis of contextual factors such as race, ethnicity, gender, and social class in relationship to societal systems of power, privilege, and oppression. A broad understanding of these dynamics, however, is inadequate to inform our work with families whose social capital severely limits available life choices, social influence, and material resources. In this article, we describe working from a critical contextual perspective to consider how families gain and/or lose social capital through participation in multiple contexts. We introduce a technique for mapping social capitol within and across multiple systems as well as suggestions for interventions aimed at increasing the social well-being of low-status families. These include considering the dynamics of boundary crossing, recognizing and optimizing resistance to oppressive dynamics, finding ways to limit constraints and optimize opportunities, and developing webs of allies to support family functioning and access to resources. We offer the example of 13-year-old Pepe as a case in point.

  3. Linkage disequilibrium mapping places the gene causing familial Mediterranean fever close to D16S246

    Energy Technology Data Exchange (ETDEWEB)

    Levy, E. N.; Aksentijevich, I.; Pras, E. [National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD (United States)] [and others

    1996-03-01

    This report presents refined genetic mapping data for the gene causing familial Mediterranean fever (FMF), a recessively inherited disorder of inflammation. We sampled 65 Jewish, Armenian, and Arab families and typed them for eight markers from chromosome 16p. Using a new algorithm that permits multipoint calculations for a dense map of markers in consanguineous families, we obtained a maximal LOD score of 49.2 at a location 1.6 cM centromeric to D16S246. A specific haplotype at D16S283-D16S94-D16S246 was found in 76% of Moroccan and 32% of non-Moroccan Jewish carrier chromosomes, but this haplotype was not overrepresented in Armenian or Arab FMF carriers. Moreover, the 2.5-kb allele at D16S246 was significantly associated with FMF in Moroccan and non-Moroccan Jews but not in Armenians or Arabs. Since the Moroccan Jewish community represents a relatively recently established and genetically isolated founder population, we analyzed the Moroccan linkage-disequilibrium data by using Luria-Delbruck formulas and simulations based on a Poisson branching process. These methods place the FMF susceptibility gene within 0.305 cM of D16S246 (2-LOD-unit range 0.02-0.64 cM). 41 refs., 3 figs., 5 tabs.

  4. Validation of a Chinese version of the Medical Outcomes Study Family and Marital Functioning Measures in patients with SLE.

    Science.gov (United States)

    Thumboo, J; Feng, P H; Soh, C H; Boey, M L; Thio, S; Fong, K Y

    2000-01-01

    The objective was to validate a Chinese translation of the Medical Outcomes Study Family and Marital Functioning Measures (FFM and MFM) in patients with systemic lupus erythematosus (SLE). Chinese-speaking SLE patients (n = 69) completed a self-administered questionnaire containing the FFM and MFM and assessing demographic and socio-economic status twice within a 2 week period. SLE activity, disease-related damage and quality of life were assessed using the BILAG, SLICC/ACR Damage Index and SF-36 Health Survey, respectively. Scale psychometric properties were assessed through factor analysis, Cronbach's alpha, quantifying test-retest differences and known-groups construct validity. Factor analysis identified 1 factor corresponding to the FFM and 2 factors corresponding to the MFM. Internal consistency for the FFM was excellent (alpha = 0.92) while that for the MFM was acceptable (alpha = 0.62). Mean (s.d.) test-retest differences were 0.06 (1.54) points for the FFM and 0.03 (2.08) points for the MFM. 11 and 10 of 13 a priori hypotheses relating the FFM and MFM, respectively, to demographic, disease and quality of life variables were confirmed, supporting the construct validity of these scales. The Chinese FFM and MFM are valid and reliable measures of family and marital functioning in Chinese-speaking SLE patients, with psychometric properties very similar to the source English version.

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

    Directory of Open Access Journals (Sweden)

    Daniel Tan Lei Shek

    2015-01-01

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

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

    Science.gov (United States)

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

    2014-11-01

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

  7. Determinants of hopelessness and depression among Chinese hospitalized esophageal cancer patients and their family caregivers.

    Science.gov (United States)

    Han, Yanhong; Yuan, Jie; Luo, Zhiguo; Zhao, Jing; Wu, Junbo; Liu, Rongying; Lopez, Violeta

    2013-11-01

    It has been well documented that the diagnosis of cancer is psychologically devastating to both the patients and caregivers. The incidence and mortality of esophageal cancer were 20.85 and 16.24 per 100,000 persons and the sixth most commonly diagnosed cancer and the fourth main cause of cancer death in China. We surveyed patients-caregivers dyad and examined the determinants of their depression and hopelessness. The prevalence of depression among patients and caregivers was 52.8% and 47.2%, and the prevalence for hopelessness was 64.4% and 53.9%, respectively Regression models indicate that the variables measured could explain 58.9% and 51.7% of the variance in depression and 66.8% and 45.7% of the variance in hopelessness among patients and caregivers, respectively. Overall, hopelessness was a determinant of depression and vice versa to both patients and caregivers. Esophageal patients' depression and hopelessness could also affect caregivers' depression and hopelessness despite the social support that family caregivers have. Psychosocial interventions should be planned to both Chinese patients and caregivers considering the predictors found in this study. Copyright © 2013 John Wiley & Sons, Ltd.

  8. 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.

  9. Genetic diagnosis of a Chinese multiple endocrine neoplasia type 2A family through whole genome sequencing

    Indian Academy of Sciences (India)

    ZHEN-FANG DU; PENG-FEI LI; JIAN-QIANG ZHAO; ZHI-LIE CAO; FENG LI; JU-MING MA; XIAO-PING QI

    2017-06-01

    Approximately 98% of patients with multiple endocrine neoplasia type 2A (MEN 2A) have an identifiable RETmutation. Prophylactic or early total thyroidectomy or pheochromocytoma/parathyroid removal in patients can bepreventative or curative and has become standard management. The general strategy for RET screening on familymembers at risk is to sequence the most commonly affected exons and, if negative, to extend sequencing to additionalexons. However, different families with MEN 2A due to the same RET mutation often have significant variability inthe clinical exhibition of disease and aggressiveness of the MTC, which implies additional genetic loci exsit beyondRET coding region. Whole genome sequencing (WGS) greatly expands the breadth of screening from genes associatedwith a particular disease to the whole genome and, potentially, all the information that the genome containsabout diseases or traits. This is presumably due to additive effect of disease modifying factors. In this study, weperformed WGS on a typical Chinese MEN 2A proband and identified the pathogenic RET p.C634R mutation. Wealso identified several neutral variants within RET and pheochromocytoma-related genes. Moreover, we found severalinteresting structural variants including genetic deletions (RSPO1, OVCH2 and AP3S1, etc.) and fusion transcripts(FSIP1-BAZ2A, etc.).

  10. Convergence of an implicit iteration process for a finite family of asymptotically quasi-nonexpansive mappings in convex metric spaces

    Directory of Open Access Journals (Sweden)

    Gurucharan Singh Saluja

    2010-01-01

    Full Text Available In this paper, we give some necessary and sufficient conditions for an implicit iteration process with errors for a finite family of asymptotically quasi-nonexpansive mappings converging to a common fixed of the mappings in convex metric spaces. Our results extend and improve some recent results of Sun, Wittmann, Xu and Ori, and Zhou and Chang.

  11. Some Characterizations for a Family of Nonexpansive Mappings and Convergence of a Generated Sequence to Their Common Fixed Point

    Directory of Open Access Journals (Sweden)

    Kazuhide Nakajo

    2010-01-01

    Full Text Available Motivated by the method of Xu (2006 and Matsushita and Takahashi (2008, we characterize the set of all common fixed points of a family of nonexpansive mappings by the notion of Mosco convergence and prove strong convergence theorems for nonexpansive mappings and semigroups in a uniformly convex Banach space.

  12. Understanding Early Childhood Socialisation in Immigrant Families: Malaysian-Chinese Parents' Perceptions on the Importance of Ethnic Identity and Cultural Maintenance

    Science.gov (United States)

    Voon, Shi Jing; Pearson, Emma

    This pilot study was designed to shed light on Malaysian-Chinese parents' beliefs about ethnic identity and cultural maintenance in children's socialisation following migration. Three Malaysian-Chinese families residing in Sydney, Australia, with at least one child within the early childhood age range of 4-8 years, participated in the study.…

  13. The Anatomy of the Role of Morphological Awareness in Chinese Character Learning: The Mediation of Vocabulary and Semantic Radical Knowledge and the Moderation of Morpheme Family Size

    Science.gov (United States)

    Liu, Duo; Li, Hong; Wong, Kwok Shing Richard

    2017-01-01

    In the present study, the mediating roles of syllable awareness, orthographic knowledge, and vocabulary skills and the moderating role of morpheme family size in the association between morphological awareness and Chinese character reading were investigated with 176 second-grade Hong Kong Chinese children. In the path analyses, the results…

  14. 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.

  15. Identification of CNGA3 mutations in 46 families: common cause of achromatopsia and cone-rod dystrophies in Chinese patients.

    Science.gov (United States)

    Li, Shiqiang; Huang, Li; Xiao, Xueshan; Jia, Xiaoyun; Guo, Xiangming; Zhang, Qingjiong

    2014-09-01

    Mutations in CNGA3 are the most common cause of achromatopsia and cone-rod dystrophies. To identify CNGA3 mutations in patients with cone dystrophies or Leber congenital amaurosis. Clinical data and genomic DNA in 267 Chinese probands from 138 families with cone dystrophies and 129 families with Leber congenital amaurosis collected at the Zhongshan Ophthalmic Center, Guangzhou, China. Variants in CNGA3 and associated phenotypes, assessed by Sanger sequencing of CNGA3, bioinformatics of variants, and segregation analysis. Homozygous or compound heterozygous mutations in CNGA3, including 26 novel and 13 known mutations, were identified in 46 probands from 138 families with cone dystrophies, but none were found in any of the probands from 129 families with Leber congenital amaurosis. The 46 probands with CNGA3 mutations could be further classified as likely having achromatopsia (18 probands) and cone-rod dystrophies (28 probands) based on electroretinographic recordings. Analysis of family members in 17 of 46 families demonstrated good segregation of the disease with the CNGA3 mutations. To our knowledge, this study is the first systemic analysis of CNGA3 in Chinese patients and expands the mutational spectrum and associated phenotypes. Our results suggest that CNGA3 mutations are a common cause of cone-rod dystrophies and achromatopsia in the Chinese population. These data indicate that CNGA3-associated cone dystrophies may be a common form of early-onset severe retinal dystrophies. Therapeutic potential such as gene therapy targeting this gene may benefit some children with early-onset severe retinal dystrophies.

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

    OpenAIRE

    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 on...

  17. 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…

  18. 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.

  19. 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...

  20. Imerslund-Grasbeck syndrome in a Chinese family with distinct skin lesions refractory to vitamin B12.

    OpenAIRE

    Lin, S. H.; Sourial, N A; Lu, K. C.; Hsueh, E J

    1994-01-01

    Two brothers in a Chinese family with selective malabsorption of vitamin B12 associated with proteinuria (Imerslund-Grasbeck syndrome) presented with widespread mottled skin pigmentation, termed poikiloderma. In contrast to anaemia, this pigmentary disturbance remained unresponsive to vitamin B12 replacement. This is different from the reported hyperpigmentation sometimes seen in vitamin B12 deficiency which is reversible following treatment. As far as is known, an irreversible and persistent...

  1. An evaluation of the performance of HapMap SNP data in a Shanghai Chinese population: Analyses of allele frequency, linkage disequilibrium pattern and tagging SNPs transferability on chromosome 1q21-q25

    Directory of Open Access Journals (Sweden)

    Wang Jie

    2008-02-01

    Full Text Available Abstract Background The HapMap project aimed to catalog millions of common single nucleotide polymorphisms (SNPs in the human genome in four major populations, in order to facilitate association studies of complex diseases. To examine the transferability of Han Chinese in Beijing HapMap data to the Southern Han Chinese in Shanghai, we performed comparative analyses between genotypes from over 4,500 SNPs in a 21 Mb region on chromosome 1q21-q25 in 80 unrelated Shanghai Chinese and 45 HapMap Chinese data. Results Three thousand and forty-two SNPs were analyzed after removal of SNPs that failed quality control and those not in the HapMap panel. We compared the allele frequency distributions, linkage disequilibrium patterns, haplotype frequency distributions and tagging SNP sets transferability between the HapMap population and Shanghai Chinese population. Among the four HapMap populations, Beijing Chinese showed the best correlation with Shanghai population on allele frequencies, linkage disequilibrium and haplotype frequencies. Tagging SNP sets selected from four HapMap populations at different thresholds were evaluated in the Shanghai sample. Under the threshold of r2 equal to 0.8 or 0.5, both HapMap Chinese and Japanese data showed better coverage and tagging efficiency than Caucasian and African data. Conclusion Our study supported the applicability of HapMap Beijing Chinese SNP data to the study of complex diseases among southern Chinese population.

  2. Coexistent Charcot-Marie-Tooth type 1A and type 2 diabetes mellitus neuropathies in a Chinese family

    OpenAIRE

    A-ping Sun; Lu Tang; Qin Liao; Hui Zhang; Ying-shuang Zhang; Jun Zhang(UT Austin)

    2015-01-01

    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 ...

  3. Genetic linkage analyses and Cx50 mutation detection in a large multiplex Chinese family with hereditary nuclear cataract.

    Science.gov (United States)

    He, Wei; Li, Xin; Chen, Jiajing; Xu, Ling; Zhang, Feng; Dai, Qiushi; Cui, Hao; Wang, Duen-Mei; Yu, Jun; Hu, Songnian; Lu, Shan

    2011-03-01

    The aim of the study was to characterize the underlying mutation in a large multiplex Chinese family with hereditary nuclear cataract. A 6-generation Chinese family having hereditary nuclear cataract was recruited and clinically verified. Blood DNA samples were obtained from 53 available family members. Linkage analyses were performed on the known candidate regions for hereditary cataract with 36 polymorphic microsatellite markers. To identify mutations related to cataract, a direct sequencing approach was applied to a candidate gene residing in our linkage locus. A linkage locus was identified with a maximum 2-point LOD score of 4.31 (recombination fraction = 0) at marker D1S498 and a maximum multipoint LOD score of 5.7 between markers D1S2344 and D1S498 on chromosome 1q21.1, where the candidate gene Cx50 is located. Direct sequencing of Cx50 showed a 139 G to A transition occurred in all affected family members. This transitional mutation resulted in a replacement of aspartic acid by asparagine at residue 47 (D47N) and led to a loss-of-function of the protein. The D47N mutation of Cx50 causes the hereditary nuclear cataract in this family in an autosomal dominant mode of inheritance with incomplete penetrance.

  4. 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.

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

    Directory of Open Access Journals (Sweden)

    Dongmei Su

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

  6. Convergence Theorems for Infinite Family of Multivalued Quasi-Nonexpansive Mappings in Uniformly Convex Banach Spaces

    Directory of Open Access Journals (Sweden)

    Aunyarat Bunyawat

    2012-01-01

    Full Text Available We introduce an iterative method for finding a common fixed point of a countable family of multivalued quasi-nonexpansive mapping {Ti} in a uniformly convex Banach space. We prove that under certain control conditions, the iterative sequence generated by our method is an approximating fixed point sequence of each Ti. Some strong convergence theorems of the proposed method are also obtained for the following cases: all Ti are continuous and one of Ti is hemicompact, and the domain K is compact.

  7. Factors influencing the attitudes of Chinese cancer patients and their families toward the disclosure of a cancer diagnosis.

    Science.gov (United States)

    Sun, Wenwen; Wang, Zhehai; Fang, Shu; Li, Minmin

    2015-03-01

    The disclosure of a cancer diagnosis to patients has been a core topic in oncology departments. Previous studies have demonstrated that Chinese cancer patients and their families differ in their attitudes toward cancer diagnosis disclosure. However, the influencing factors regarding their different attitudes remain unknown. In the present study, a questionnaire was delivered to 266 cancer patients and 266 matched family members. The results showed that cancer patients were more likely to desire to be informed of their condition than family members (85 vs. 18%, P cancer, 16.5% expected to reduce the severity of their condition, and 4.9% expected to lengthen their lives. Therefore, physicians have a responsibility to appropriately provide knowledge regarding cancer to the patients' families if their educational level is lower and if they have no knowledge of recent treatments, which may improve their acceptability of a cancer diagnosis for patients.

  8. Anticipation, anti-glaucoma drug treatment response and phenotype of a Chinese family with glaucoma caused by the Pro370Leu myocilin mutation

    OpenAIRE

    Chun-Mei Li; Yue-Hong Zhang; Rong-Hua Ye; Chang-Xian Yi; Yi-Min Zhong; Dan Cao; Xing Liu

    2014-01-01

    AIM:To describe the anticipation and anti-glaucoma drugs response of a Chinese family with juvenile-onset open angle glaucoma (JOAG) caused by the Pro370Leu myocilin (MYOC) mutation.METHODS: Fifteen members of a three-generation Chinese family with JOAG were recruited to this study. They all underwent ophthalmic common examinations. Patients suspected to have JOAG got an assessment of visual field and optical coherence tomography. Intraocular pressures (IOPs) of four patients were measured at...

  9. A Novel Linkage to Generalized Vitiligo on 4q13-q21 Identified in a Genomewide Linkage Analysis of Chinese Families

    OpenAIRE

    Chen, Jian-Jun; Huang, Wei; Gui, Jin-Ping; Yang, Sen; Zhou, Fu-Sheng; Xiong, Quan-Geng; Wu, Hong-Bo; Cui, Yong; Gao, Min; Li, Wei; Li, Jin-Xian; Yan, Kai-Lin; Yuan, Wen-tao; Xu, Shi-Jie; Liu, Jian-Jun

    2005-01-01

    Generalized vitiligo is a common, autoimmune, familial-clustering depigmentary disorder of the skin and hair that results from selective destruction of melanocytes. Generalized vitiligo is likely a heterogeneous disease, with five susceptibility loci reported so far—on chromosomes 1p31, 6p21, 7q, 8p, and 17p13—in white populations. To investigate vitiligo susceptibility loci in the Chinese population, we performed a genomewide linkage analysis in 57 multiplex Chinese families, each with at le...

  10. An Implicit Iteration Process for Common Fixed Points of Two Infinite Families of Asymptotically Nonexpansive Mappings in Banach Spaces

    Directory of Open Access Journals (Sweden)

    Wei-Qi Deng

    2013-01-01

    Full Text Available Let be a nonempty, closed, and convex subset of a real uniformly convex Banach space . Let and be two infinite families of asymptotically nonexpansive mappings from to itself with . For an arbitrary initial point , is defined as follows: , , , where and with and satisfying the positive integer equation: , ; and are two countable subsets of and respectively; , , , , , and are sequences in for some , satisfying and . Under some suitable conditions, a strong convergence theorem for common fixed points of the mappings and is obtained. The results extend those of the authors whose related researches are restricted to the situation of finite families of asymptotically nonexpansive mappings.

  11. MAXIMAL ELEMENTS OF A FAMILY OF GB-MAJORIZED MAPPINGS IN PRODUCT FC-SPACES AND APPLICATIONS

    Institute of Scientific and Technical Information of China (English)

    DING Xie-ping

    2006-01-01

    A new family of GB-majorized mappings from a topological space into a finite continuous topological spaces (in short, FC-space) involving a better admissible set-valued mapping is introduced. Some existence theorems of maximal elements for the family of GB-majorized mappings are proved under noncompact setting of product FCspaces. Some applications to fixed point and system of minimax inequalities are given in product FC-spaces. These theorems improve, unify and generalize many important results in recent literature.

  12. Multi-Level Family Factors and Affective and Behavioral Symptoms of Oppositional Defiant Disorder in Chinese Children

    Directory of Open Access Journals (Sweden)

    Yixin Tang

    2017-06-01

    Full Text Available Given the important role of family environment in children's psychological development, the objective of this study was to examine the linkages between family factors at the whole, dyadic, and individual levels and two dimensions (affective and behavioral of Oppositional Defiant Disorder (ODD symptoms in Chinese children. Participants comprised of 80 father-child dyads and 169 mother-child dyads from families with ODD children. The results indicated that multilevel family factors were differently associated with children's affective and behavioral ODD symptoms. All the family factors at the dyadic and individual levels were significantly associated with child affective ODD symptoms. However, only the most proximal factors (parent-child relationship and child emotion regulation, which were directly related to child were significantly related to child behavioral ODD symptoms. The present study extends the current knowledge regarding the relationships between family factors and two dimensions of child ODD symptoms by testing the comprehensive multilevel family factors model. This study also recommends that future interventions for ODD children should consider the multi-level family factors to enhance intervention efficacy.

  13. Exploring occupation roles of hospice family caregivers from Māori, Chinese and Tongan ethnic backgrounds living in New Zealand.

    Science.gov (United States)

    Angelo, Jennifer; Wilson, Linda

    2014-06-01

    A major challenge to occupational therapists working in palliative care is determining the best ways to help family caregivers who are caring for family members. The purpose of this study was to explore palliative caregiver occupations among Māori, Chinese and Tongan ethnicities. Six informants participated, one woman and one man from each ethnic group. In each of their homes, informants were asked to discuss what it was like caring for their dying family member. The occupational themes resulting from these interviews were food preparation, spirituality and family gathering. Therapists need to be aware of the differences in how people care for family members within their ethnicity. Implications are that occupational therapists can help families identify activities important to them within the main occupational themes: different types of foods and their preparations, various ways to express spirituality and how families gather together members of their extended family. Further, clinicians need to take on the role of a "not-knowing" but curious health-care provider in order to meet the needs of caregivers. The limitation was the small number of participants who all lived in one geographic area. Future studies should include a wider group of ethnicities.

  14. Preoperative functional MRI localization of language areas in Chinese patients with brain tumors Validation with intraoperative electrocortical mapping

    Institute of Scientific and Technical Information of China (English)

    Hechun Xia; Wei Huang; Liang Wu; Hui Ma; Xiaodong Wang; Xuexin Chen; Shengyu Sun; Xiaoxiong Jia

    2012-01-01

    Ten Chinese patients with brain tumors involving language regions were selected. Preoperative functional MRI was performed to locate Broca's or Wernicke's area, and the cortex that was essential for language function was determined by electrocortical mapping. A site-by-site comparison between functional MRI and electrocortical mapping was performed with the aid of a neuronavigation device. Results showed that the sensitivity and specificity of preoperative functional MRI were 80.0% and 85.0% in Broca's area and 66.6% and 85.2% in Wernicke's area, respectively. These experimental findings indicate that functional MRI is an accurate, reliable technique with which to identify the location of Wernicke's area or Broca's area in patients with brain tumors.

  15. Health information sources for different types of information used by Chinese patients with cancer and their family caregivers.

    Science.gov (United States)

    Xie, Bo; Su, Zhaohui; Liu, Yihao; Wang, Mo; Zhang, Ming

    2017-08-01

    Little is known about the information sources of Chinese patients with cancer and their family caregivers, yet this knowledge is critical for providing patient-centred care. To assess and compare the information sources used by Chinese patients with cancer and their family caregivers. The validated Health Information Wants Questionnaire (HIWQ) was translated and administered in March 2014. The oncology department of a general hospital in south-west China. A convenience sample of 198 individuals, including 79 patients with cancer (mean age=55.24, SD=13.80) and 119 family caregivers (mean age=46.83, SD=14.61). Ratings on the HIWQ items assessing information sources for different types of information. The interaction between information source and group was significant (F3,576 =6.32, Pinformation than patients from the Internet. Caregivers and patients did not differ in the amount of information they obtained from doctors/nurses, interpersonal contacts or mass media. The interaction between information type and information source was significant (F18,3456 =6.38, Pinformation of all types from doctors/nurses than from the other three sources and obtained more information from interpersonal contacts than from mass media or the Internet. The information sources of Chinese patients with cancer and their family caregivers were similar, with an important difference that caregivers obtained more online information than patients. These findings have important implications for patient care and education in China where the family typically plays a major role in the care and decision making. © 2016 The Authors. Health Expectations Published by John Wiley & Sons Ltd.

  16. Browder's type strong convergence theorems for infinite families of nonexpansive mappings in Banach spaces

    Directory of Open Access Journals (Sweden)

    Tomonari Suzuki

    2006-06-01

    Full Text Available We prove Browder's type strong convergence theorems for infinite families of nonexpansive mappings. One of our main results is the following: let C be a bounded closed convex subset of a uniformly smooth Banach space E. Let {Tn:n∈ℕ} be an infinite family of commuting nonexpansive mappings on C. Let {αn} and {tn} be sequences in (0,1/2 satisfying limntn=limnαn/tnℓ=0 for ℓ∈ℕ. Fix u∈C and define a sequence {un} in C by un=(1−αn((1−∑k=1ntnkT1un+∑k=1ntnkTk+1un+αnu for n∈ℕ. Then {un} converges strongly to Pu, where P is the unique sunny nonexpansive retraction from C onto ∩n=1∞F(Tn.

  17. Variants for HDL-C, LDL-C and Triglycerides Identified from Admixture Mapping and Fine-Mapping Analysis in African-American Families

    Science.gov (United States)

    Shetty, Priya B.; Tang, Hua; Feng, Tao; Tayo, Bamidele; Morrison, Alanna C.; Kardia, Sharon L.R.; Hanis, Craig L.; Arnett, Donna K.; Hunt, Steven C.; Boerwinkle, Eric; Rao, D.C.; Cooper, R.S.; Risch, Neil; Zhu, Xiaofeng

    2015-01-01

    Background Admixture mapping of lipids was followed-up by family-based association analysis to identify variants for cardiovascular disease in African-Americans. Methods and Results The present study conducted admixture mapping analysis for total cholesterol, high-density lipoprotein cholesterol (HDL-C), low-density lipoprotein cholesterol (LDL-C) and triglycerides. The analysis was performed in 1,905 unrelated African-American subjects from the National Heart, Lung and Blood Institute’s Family Blood Pressure Program. Regions showing admixture evidence were followed-up with family-based association analysis in 3,556 African-American subjects from the FBPP. The admixture mapping and family-based association analyses were adjusted for age, age2, sex, body-mass-index, and genome-wide mean ancestry to minimize the confounding due to population stratification. Regions that were suggestive of local ancestry association evidence were found on chromosomes 7 (LDL-C), 8 (HDL-C), 14 (triglycerides) and 19 (total cholesterol and triglycerides). In the fine-mapping analysis, 52,939 SNPs were tested and 11 SNPs (8 independent SNPs) showed nominal significant association with HDL-C (2 SNPs), LDL-C (4 SNPs) and triglycerides (5 SNPs). The family data was used in the fine-mapping to identify SNPs that showed novel associations with lipids and regions including genes with known associations for cardiovascular disease. Conclusions This study identified regions on chromosomes 7, 8, 14 and 19 and 11 SNPs from the fine-mapping analysis that were associated with HDL-C, LDL-C and triglycerides for further studies of cardiovascular disease in African-Americans. PMID:25552592

  18. Variants for HDL-C, LDL-C, and triglycerides identified from admixture mapping and fine-mapping analysis in African American families.

    Science.gov (United States)

    Shetty, Priya B; Tang, Hua; Feng, Tao; Tayo, Bamidele; Morrison, Alanna C; Kardia, Sharon L R; Hanis, Craig L; Arnett, Donna K; Hunt, Steven C; Boerwinkle, Eric; Rao, Dabeeru C; Cooper, Richard S; Risch, Neil; Zhu, Xiaofeng

    2015-02-01

    Admixture mapping of lipids was followed-up by family-based association analysis to identify variants for cardiovascular disease in African Americans. The present study conducted admixture mapping analysis for total cholesterol, high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, and triglycerides. The analysis was performed in 1905 unrelated African American subjects from the National Heart, Lung and Blood Institute's Family Blood Pressure Program (FBPP). Regions showing admixture evidence were followed-up with family-based association analysis in 3556 African American subjects from the FBPP. The admixture mapping and family-based association analyses were adjusted for age, age(2), sex, body mass index, and genome-wide mean ancestry to minimize the confounding caused by population stratification. Regions that were suggestive of local ancestry association evidence were found on chromosomes 7 (low-density lipoprotein cholesterol), 8 (high-density lipoprotein cholesterol), 14 (triglycerides), and 19 (total cholesterol and triglycerides). In the fine-mapping analysis, 52 939 single-nucleotide polymorphisms (SNPs) were tested and 11 SNPs (8 independent SNPs) showed nominal significant association with high-density lipoprotein cholesterol (2 SNPs), low-density lipoprotein cholesterol (4 SNPs), and triglycerides (5 SNPs). The family data were used in the fine-mapping to identify SNPs that showed novel associations with lipids and regions, including genes with known associations for cardiovascular disease. This study identified regions on chromosomes 7, 8, 14, and 19 and 11 SNPs from the fine-mapping analysis that were associated with high-density lipoprotein cholesterol, low-density lipoprotein cholesterol, and triglycerides for further studies of cardiovascular disease in African Americans. © 2014 American Heart Association, Inc.

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

    Directory of Open Access Journals (Sweden)

    Yu Su

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

  20. Iterative Algorithm for Common Fixed Points of Infinite Family of Nonexpansive Mappings in Banach Spaces

    Directory of Open Access Journals (Sweden)

    Songnian He

    2012-01-01

    Full Text Available Let C be a nonempty closed convex subset of a real uniformly smooth Banach space X, {Tk}k=1∞:C→C an infinite family of nonexpansive mappings with the nonempty set of common fixed points ⋂k=1∞Fix⁡(Tk, and f:C→C a contraction. We introduce an explicit iterative algorithm xn+1=αnf(xn+(1-αnLnxn, where Ln=∑k=1n(ωk/snTk,Sn=∑k=1nωk,   and wk>0 with ∑k=1∞ωk=1. Under certain appropriate conditions on {αn}, we prove that {xn} converges strongly to a common fixed point x* of {Tk}k=1∞, which solves the following variational inequality: 〈x*-f(x*,J(x*-p〉≤0,    p∈⋂k=1∞Fix(Tk, where J is the (normalized duality mapping of X. This algorithm is brief and needs less computational work, since it does not involve W-mapping.

  1. 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 school…

  2. 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.

  3. Exclusion mapping of familial Alzheimer disease (FAD) in the Volga Germans

    Energy Technology Data Exchange (ETDEWEB)

    Levy-Lehad, E.; Wijsman, E.M. [Univ. of Washington, Seattle, WA (United States); Bird, T.D. [Veterans` Affairs Medical Center, Seattle, WA (United States)] [and others

    1994-09-01

    The Volga Germans (VG) are an ethnically distinct group of 8 families in whom early-onset (mean age-of-onset <60 years) FAD segregates as an autosomal dominant trait, probably due to a founder effect. Known FAD loci are a chromosome 14q24.3 locus for which the majority of early-onset FAD families show linkage, and the ApoE4 allele of the apolipoprotein E (ApoE) gene on chromosome 19q11.3. Linkage of VG FAD to markers on chromosomes 14, 21 and 19 has been excluded, and no APP mutations were found in affected VG subjects. The VG have an increased frequency of ApoE4 but do not show an association of FAD with the ApoE4 allele. In contrast to late-onset FAD families, ApoE4 does not modify age-of-onset in the VG: mean age-of-onset is 62.2{plus_minus}10.0 years for affected individuals with no ApoE4 alleles, 62.0{plus_minus}6.0 for affecteds homozygous for ApoE4. Therefore FAD in the VG group is caused by a locus which is as yet unidentified. To map this locus we have undertaken a genome-side search using short-tandem-repeat (STRP) markers evenly spaced (about every 20 cM) on all the autosomes. We have analyzed over 30 RFLPs and over 100 STRP markers. Approximately 50% of the genome has been excluded. An exclusion map, using the EXCLUDE program, is continuously updated to indicate regions of high likelihood for linkage.

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

    Directory of Open Access Journals (Sweden)

    Dan Kan

    2016-01-01

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

  5. 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

    2016-01-16

    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.

  6. Homozygosity mapping and targeted sanger sequencing reveal genetic defects underlying inherited retinal disease in families from pakistan.

    Directory of Open Access Journals (Sweden)

    Maleeha Maria

    Full Text Available Homozygosity mapping has facilitated the identification of the genetic causes underlying inherited diseases, particularly in consanguineous families with multiple affected individuals. This knowledge has also resulted in a mutation dataset that can be used in a cost and time effective manner to screen frequent population-specific genetic variations associated with diseases such as inherited retinal disease (IRD.We genetically screened 13 families from a cohort of 81 Pakistani IRD families diagnosed with Leber congenital amaurosis (LCA, retinitis pigmentosa (RP, congenital stationary night blindness (CSNB, or cone dystrophy (CD. We employed genome-wide single nucleotide polymorphism (SNP array analysis to identify homozygous regions shared by affected individuals and performed Sanger sequencing of IRD-associated genes located in the sizeable homozygous regions. In addition, based on population specific mutation data we performed targeted Sanger sequencing (TSS of frequent variants in AIPL1, CEP290, CRB1, GUCY2D, LCA5, RPGRIP1 and TULP1, in probands from 28 LCA families.Homozygosity mapping and Sanger sequencing of IRD-associated genes revealed the underlying mutations in 10 families. TSS revealed causative variants in three families. In these 13 families four novel mutations were identified in CNGA1, CNGB1, GUCY2D, and RPGRIP1.Homozygosity mapping and TSS revealed the underlying genetic cause in 13 IRD families, which is useful for genetic counseling as well as therapeutic interventions that are likely to become available in the near future.

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

    Institute of Scientific and Technical Information of China (English)

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

    2013-01-01

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

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

    Science.gov (United States)

    Shek, Daniel T L; Lee, Tak Yan

    2007-01-01

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

  9. Family and Marital Conflict Among Chinese Older Adults in the United States: The Influence of Personal Coping Resources.

    Science.gov (United States)

    Guo, Man; Dong, Xinqi; Tiwari, Agnes

    2017-07-01

    Conflict in the family is a major risk factor for the well-being of older immigrants, whose lives are centered around their families. This study examined the potential linkage between personal coping resources and family and marital conflict among U.S. Chinese older adults. Data were derived from the PINE study, a population-based study of Chinese elders in Chicago (N = 3,157). Logistic regressions were carried out to predict the likelihood of having conflict with family members and with the spouse, respectively, using indicators of personal coping resources (ie, socioeconomic status, physical health, acculturation level, perceived children's filial piety, number of friends, and sense of mastery). The results showed that older adults with higher education (odds ratio [OR] = 1.03, confidence interval [CI] = 1.01-1.06; OR = 1.09, CI = 1.06-1.11, respectively), lower perception of children being filial (OR = 0.95, CI = 0.93-0.97; OR = 0.96, CI = 0.94-0.98], respectively), and lower sense of mastery (OR = 0.95, CI = 0.94-0.96; OR = 0.98, CI = 0.97-0.99, respectively) were more likely to report both family and marital conflict. Older adults who had more friends were less likely to report marital conflict (OR = 0.61, CI = 0.43-0.86). Overall, older immigrants with greater coping resources seemed to have less family and marital conflict. Particularly important are their own sense of control and available support from children and friends in the new society. Higher education could be a risk factor for these conflicts. Future studies are needed to distinguish everyday life conflict from acculturation-related conflict in this population.

  10. Influence of Adoptment of Geocentric 3D Coordinate System on Chinese Existent Maps

    Institute of Scientific and Technical Information of China (English)

    CHEN Junyong; DANG Yamin

    2005-01-01

    If a geocentric 3D coordinate system is adopted in China to replace 2D non-geocentric coordinate system, the coordinates of the surface points will be changed accordingly.The influences on the current maps of China, especially the topographic maps, are discussed due to the replacement of the coordinate systems.Taking the replacement of Xi'an 80 coordinate system by GRS80 for a numerical example, this paper analyzes the changes of latitude, longitude, Gauss plane coordinates of the surface points, as well as the orientation and the length changes between the points on the map, including the changes of map border lines and sheet corner points.

  11. Mutation p.R156H of KRT10 responsible for severe phenotype of epidermolytic ichthyosis in a Chinese family

    Directory of Open Access Journals (Sweden)

    Li Z

    2014-09-01

    Full Text Available Zhiliang Li,1,* Qiao Liu,2,* Aimin Wang,2 Hongsheng Wang,1 Chengrang Li1 1Department of Dermatology, Institute of Dermatology, Chinese Academy of Medical Sciences and Peking Union Medical College, Nanjing, People's Republic of China; 2Hainan Provincial Hospital of Skin Disease, Hainan, People's Republic of China  *These authors contributed equally to this workEpidermolytic ichthyosis is a rare genetic disorder characterized by diffuse erythroderma from the time of birth with subsequent appearance of thick, brown scales and occasional blister formation. Mutation has been found in keratin 1 (K1 and keratin 10 (K10 genes.1 Epidermolytic hyperkeratosis (EHK is mostly inherited in a dominant mode. We report a Chinese family of EHK sufferers and their mutation findings. 

  12. 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.

  13. Relations among parental acceptance and control and children's social adjustment in Chinese American and European American families.

    Science.gov (United States)

    Huntsinger, Carol S; Jose, Paul E

    2009-06-01

    Parental acceptance and control are the 2 dimensions of parenting that have been investigated most; however, little is known about their cross-cultural expressions. This longitudinal study examined acceptance, control, and R. Chao's indigenous Chinese notion of control--chiao shun (training)--in 35 immigrant Chinese American (CA) and 38 European American (EA) families. Data were collected when children were in preschool and kindergarten (T1); first and second grades (T2); and third and fourth grades (T3). Within couples, CA mothers and fathers reported similar levels of acceptance and control, whereas EA mothers and fathers did not. CA fathers' and mothers' and EA mothers' acceptance and control exerted a positive influence on their children's psychological adjustment. CA fathers' training negatively predicted their children's problem behaviors 4 years later. Copyright 2009 APA, all rights reserved.

  14. Chinese adolescents' reasoning about democratic and authority-based decision making in peer, family, and school contexts.

    Science.gov (United States)

    Helwig, Charles C; Arnold, Mary Louise; Tan, Dingliang; Boyd, Dwight

    2003-01-01

    This study explored the judgments and reasoning of Chinese adolescents (13-18 years of age) from 3 regions of mainland China (N = 574) regarding procedures for making decisions involving children in peer, family, and school contexts. Participants evaluated 2 democratic decision-making procedures (majority rule and consensus) and decision making by adult authorities for 2 decisions embedded in each social context. Judgments and reasoning about decision-making procedures varied by social context and by the decision under consideration, and evaluations of procedures became more differentiated with increasing age. The findings reveal that concepts of rights, individual autonomy, and democratic norms (majority rule) are salient aspects of Chinese adolescents' social reasoning and are used to evaluate critically existing social practices.

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

    National Research Council Canada - National Science Library

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

    2015-01-01

    ...; 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...

  16. Psychological Stress and Parenting Behavior among Chinese Families: Findings from a Study on Parent Education for Economically Disadvantaged Families

    Science.gov (United States)

    Lam, Ching Man

    2011-01-01

    With the recognition of the crucial role of family and with the belief that parents have the greatest influence on a child's life, family and parent education has been widely practiced in Hong Kong and many other countries as measure for poverty alleviation. A study, employed quantitative method of a cross-sectional parent survey (N = 10,386) was…

  17. Psychological Stress and Parenting Behavior among Chinese Families: Findings from a Study on Parent Education for Economically Disadvantaged Families

    Science.gov (United States)

    Lam, Ching Man

    2011-01-01

    With the recognition of the crucial role of family and with the belief that parents have the greatest influence on a child's life, family and parent education has been widely practiced in Hong Kong and many other countries as measure for poverty alleviation. A study, employed quantitative method of a cross-sectional parent survey (N = 10,386) was…

  18. 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…

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

    Science.gov (United States)

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

    2013-01-01

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

  20. English- and Chinese-Learning Infants Map Novel Labels to Objects and Actions Differently

    Science.gov (United States)

    Chan, Cheri C. Y.; Tardif, Twila; Chen, Jie; Pulverman, Rachel B.; Zhu, Liqi; Meng, Xiangzhi

    2011-01-01

    Research based on naturalistic and checklist methods has revealed differences between English and Chinese monolingual children in their trajectories of learning nouns and verbs. However, studies based on controlled laboratory designs (e.g., Imai et al., 2008) have yielded a more mixed picture. Guided by a multidimensional view of word learning (in…

  1. Functional Pathways of Social Support for Mental Health in Work and Family Domains Among Chinese Scientific and Technological Professionals.

    Science.gov (United States)

    Gan, Yiqun; Gan, Tingting; Chen, Zhiyan; Miao, Miao; Zhang, Kan

    2015-10-01

    This study investigated the role of social support in the complex pattern of associations among stressors, work-family interferences and depression in the domains of work and family. A questionnaire was administered to a nationwide sample of 11,419 Chinese science and technology professionals. Several structural equation models were specified to determine whether social support functioned as a predictor or a mediator. Using Mplus 5.0, we compared the moderation model, the independence model, the antecedent model and the mediation model. The results revealed that the relationship between work-family interference and social support was domain specific. The independence model fit the data best in the work domain. Both the moderation model and the antecedent model fit the family domain data equally well. The current study was conducted to answer the need for comprehensive investigations of cultural uniqueness in the antecedents of work-family interference. The domain specificity, i.e. the multiple channels of the functions of support in the family domain and not in the work domain, ensures that this study is unique and culturally specific.

  2. A novel splice site mutation of CRYBA3/A1 gene associated with congenital cataract in a Chinese family

    Science.gov (United States)

    Wu, Meng-Han; Yu, Yin-Hui; Hao, Qin-Long; Gong, Xiao-Hua; Yao, Ke

    2017-01-01

    AIM To identify the disease-causing mutation responsible for the presence of congenital cataract in a Chinese family. METHODS The study recruited a four-generation Chinese pedigree affected by autosomal dominant congenital cataract (ADCC). Family history and the history of cataract extraction were recorded. Blood samples were collected from individuals for DNA extraction. Direct sequencing of congenital cataract-associated genes was performed. Single-strand conformational polymorphism and bioinformatic analysis were conducted to further study the mutation. RESULTS Direct sequencing revealed a novel splice site mutation of c.30-2 A>G in the CRYBA3/A1 gene. The mutation co-segregated within all affected individuals in the family and was not found in unaffected members or 100 unrelated normal controls. These results were further confirmed by single-strand conformational polymorphism and bioinformatic analysis using the Human Splicing Finder and MaxEnt online software and Annovar computer software. CONCLUSION c.30-2 A>G mutation of CRYBA3/A1 gene is a novel mutation and broadens the genetic spectrum of ADCC.

  3. 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

    2012-01-01

    SYNOPSIS 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

  4. Mapping C-terminal transactivation domains of the nuclear HER family receptor tyrosine kinase HER3.

    Science.gov (United States)

    Brand, Toni M; Iida, Mari; Luthar, Neha; Wleklinski, Matthew J; Starr, Megan M; Wheeler, Deric L

    2013-01-01

    Nuclear localized HER family receptor tyrosine kinases (RTKs) have been observed in primary tumor specimens and cancer cell lines for nearly two decades. Inside the nucleus, HER family members (EGFR, HER2, and HER3) have been shown to function as co-transcriptional activators for various cancer-promoting genes. However, the regions of each receptor that confer transcriptional potential remain poorly defined. The current study aimed to map the putative transactivation domains (TADs) of the HER3 receptor. To accomplish this goal, various intracellular regions of HER3 were fused to the DNA binding domain of the yeast transcription factor Gal4 (Gal4DBD) and tested for their ability to transactivate Gal4 UAS-luciferase. Results from these analyses demonstrated that the C-terminal domain of HER3 (CTD, amino acids distal to the tyrosine kinase domain) contained potent transactivation potential. Next, nine HER3-CTD truncation mutants were constructed to map minimal regions of transactivation potential using the Gal4 UAS-luciferase based system. These analyses identified a bipartite region of 34 (B₁) and 27 (B₂) amino acids in length that conferred the majority of HER3's transactivation potential. Next, we identified full-length nuclear HER3 association and regulation of a 122 bp region of the cyclin D1 promoter. To understand how the B₁ and B₂ regions influenced the transcriptional functions of nuclear HER3, we performed cyclin D1 promoter-luciferase assays in which HER3 deleted of the B₁ and B₂ regions was severely hindered in regulating this promoter. Further, the overexpression of HER3 enhanced cyclin D1 mRNA expression, while HER3 deleted of its identified TADs was hindered at doing so. Thus, the ability for HER3 to function as a transcriptional co-activator may be dependent on specific C-terminal TADs.

  5. Strong Convergence for a Countable Family of Total Quasi-ϕ-asymptotically Nonexpansive Nonself Mappings in Banach Space

    Institute of Scientific and Technical Information of China (English)

    Wang Xiong-rui; Quan Jing; Ji You-qing

    2015-01-01

    The purpose of this article is to introduce a class of total quasi-ϕ-asymptotically nonexpansive nonself mappings. Strong convergence theorems for common fixed points of a countable family of total quasi-ϕ-asymptotically nonexpan-sive mappings are established in the framework of Banach spaces based on modified Halpern and Mann-type iteration algorithm. The main results presented in this arti-cle extend and improve the corresponding results of many authors.

  6. 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.

  7. Family Function and Self-esteem among Chinese University Students with and without Grandparenting Experience: Moderating Effect of Social Support

    Directory of Open Access Journals (Sweden)

    Jingyu Shi

    2017-05-01

    Full Text Available This study examines the association between family function and self-esteem of Chinese university students with grandparenting experience, and explores the moderating effects of social support in this link. Two thousand five hundred thirty university students (1372 males and 1158 females from a Chinese university completed the Perceived Social Support Scale, the Rosenberg’s Self-esteem Scale, and the Family Assessment Device (FAD. Six hundred and forty-five (25.69% students reported grandparenting experience and they reported lower scores on self-esteem and social support than the students raised only by their parents. The grandparenting group scored higher on such dimensions of family functioning as Communication, Role, Affective Involvement, Affective Responsiveness, and General Family Function (GF than their counterpart group. For both groups, self-esteem scores were positively correlated with social support scores, while negatively correlated with FAD all sub-scale scores. Hierarchical regression analysis showed that for the students with grandparenting experience the social support moderated the relationship between GF and self-esteem. When students reported a high level of social support, those with low GF score reported higher scores in self-esteem than those with low self-esteem. However, in case of low social support, there were no differences in self-esteem between groups with high and low GF scores. These findings suggest that social support plays a positive role to relieve the adverse impact of poor family function on self-esteem of the adolescents with grandparenting experience. In addition, the significance and limitations of the results will be discussed.

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

    Science.gov (United States)

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

    2011-04-01

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

  9. Family Function and Self-esteem among Chinese University Students with and without Grandparenting Experience: Moderating Effect of Social Support

    Science.gov (United States)

    Shi, Jingyu; Wang, Lu; Yao, Yuhong; Su, Na; Zhao, Xudong; Zhan, Chenyu

    2017-01-01

    This study examines the association between family function and self-esteem of Chinese university students with grandparenting experience, and explores the moderating effects of social support in this link. Two thousand five hundred thirty university students (1372 males and 1158 females) from a Chinese university completed the Perceived Social Support Scale, the Rosenberg’s Self-esteem Scale, and the Family Assessment Device (FAD). Six hundred and forty-five (25.69%) students reported grandparenting experience and they reported lower scores on self-esteem and social support than the students raised only by their parents. The grandparenting group scored higher on such dimensions of family functioning as Communication, Role, Affective Involvement, Affective Responsiveness, and General Family Function (GF) than their counterpart group. For both groups, self-esteem scores were positively correlated with social support scores, while negatively correlated with FAD all sub-scale scores. Hierarchical regression analysis showed that for the students with grandparenting experience the social support moderated the relationship between GF and self-esteem. When students reported a high level of social support, those with low GF score reported higher scores in self-esteem than those with low self-esteem. However, in case of low social support, there were no differences in self-esteem between groups with high and low GF scores. These findings suggest that social support plays a positive role to relieve the adverse impact of poor family function on self-esteem of the adolescents with grandparenting experience. In addition, the significance and limitations of the results will be discussed. PMID:28611720

  10. Family Function and Self-esteem among Chinese University Students with and without Grandparenting Experience: Moderating Effect of Social Support.

    Science.gov (United States)

    Shi, Jingyu; Wang, Lu; Yao, Yuhong; Su, Na; Zhao, Xudong; Zhan, Chenyu

    2017-01-01

    This study examines the association between family function and self-esteem of Chinese university students with grandparenting experience, and explores the moderating effects of social support in this link. Two thousand five hundred thirty university students (1372 males and 1158 females) from a Chinese university completed the Perceived Social Support Scale, the Rosenberg's Self-esteem Scale, and the Family Assessment Device (FAD). Six hundred and forty-five (25.69%) students reported grandparenting experience and they reported lower scores on self-esteem and social support than the students raised only by their parents. The grandparenting group scored higher on such dimensions of family functioning as Communication, Role, Affective Involvement, Affective Responsiveness, and General Family Function (GF) than their counterpart group. For both groups, self-esteem scores were positively correlated with social support scores, while negatively correlated with FAD all sub-scale scores. Hierarchical regression analysis showed that for the students with grandparenting experience the social support moderated the relationship between GF and self-esteem. When students reported a high level of social support, those with low GF score reported higher scores in self-esteem than those with low self-esteem. However, in case of low social support, there were no differences in self-esteem between groups with high and low GF scores. These findings suggest that social support plays a positive role to relieve the adverse impact of poor family function on self-esteem of the adolescents with grandparenting experience. In addition, the significance and limitations of the results will be discussed.

  11. Computable conditions for the occurrence of non-uniform hyperbolicity in families of one-dimensional maps

    Science.gov (United States)

    Luzzatto, Stefano; Takahasi, Hiroki

    2006-07-01

    We formulate and prove a Jakobson-Benedicks-Carleson-type theorem on the occurrence of non-uniform hyperbolicity (stochastic dynamics) in families of one-dimensional maps, based on computable starting conditions and providing explicit, computable, lower bounds for the measure of the set of selected parameters. As a first application of our results we show that the set of parameters corresponding to maps in the quadratic family fa(x) = x2 - a which have an absolutely continuous invariant probability measure is at least 10-5000.

  12. Keratin-9 gene mutation in epidermolytic palmoplantar keratoderma combined with knuckle pads in a large Chinese family.

    Science.gov (United States)

    Li, M; Yang, L J; Hua, H-K; Zhu, X-H; Dai, X-Y

    2009-01-01

    Epidermolytic plamoplantar keratoderma (EPPK) is an autosomal dominant inherited disease. It caused by mutations in the highly conserved coil 1A domain of the keratin 9 gene, KRT9. We studied a four-generation family with EPPK combined with knuckle pads from Jiangsu province, China. In this study, a heterozygous nucleotide T-->C transition at position 500 in exon 1 of KRT9 was detected, which resulted in a leucine to serine (L167S) change. We describe this mutation in a Chinese pedigree with EPPK with knuckle pads for the first time, demonstrating the prevalence of this mutation in diverse population.

  13. Perceived Social Change, Parental Control, and Family Relations: A Comparison of Chinese Families in Hong Kong, Mainland China, and the United States

    Directory of Open Access Journals (Sweden)

    Joey Fung

    2017-10-01

    Full Text Available This study examined the relationship between perceived social change, parental control and family relations in a sample of 419 4th and 5th grade children and their mothers who are of Chinese descent but reside in three different contexts: Los Angeles (LA, Hong Kong (HK, and Beijing (BJ. HK mothers endorsed the highest levels of psychological control and the lowest levels of autonomy support compared to BJ and LA mothers. Perceived social change as measured by mothers’ endorsement of new values and ideologies was associated with increased use of both autonomy support and psychological control. Results of the mediation analyses suggested that perceived social change explained differences between LA and HK mothers in autonomy support, but group differences in psychological control were magnified when perceived social change was accounted for. Finally, whereas autonomy support was associated with higher levels of child perceived acceptance in HK and LA, psychological control was associated with greater family conflict in BJ and LA. Findings suggested that as families undergo urbanization or social change, it may shift the implications of traditional strategies that are intended to socialize the child toward interpersonal attunement. Overall, the study highlights the importance of moving beyond ethnic-group or cross-national comparisons to investigate the role of changing social and economic contexts in understanding differences in the use of parental control and their associations with family relations.

  14. Applications of collaborative helping maps: supporting professional development, supervision and work teams in family-centered practice.

    Science.gov (United States)

    Madsen, William C

    2014-03-01

    Collaborative, family-centered practice has become an influential approach in helping efforts across a broad spectrum of human services. This article draws from previous work that presented a principle-based, practice framework of Collaborative Helping and highlighted the use of Collaborative Helping maps as a tool both to help workers think their way through complex situations and to provide a guideline for constructive conversations between families and helpers about challenging issues. It builds on that work to examine ways to utilize Collaborative Helping maps at worker, supervisory, and organizational levels to enhance and sustain collaborative, family-centered practice and weave its core values and principles into the everyday fabric of organizational cultures in human service agencies and government agencies that serve poor and marginalized families and communities.

  15. Mapping the knowledge of international Chinese medicines treatment on type 2 diabetes: A biblimetrical study

    Directory of Open Access Journals (Sweden)

    Jiahui Hu

    2016-10-01

    Conclusion: Institutions from China still plays a major role in TCM-focused T2DM studies. The effect of TCM herbs on insulin resistance is the hot topic of the domain. Developing new TCM herbal medicine that regulates incretin effect is the domain frontier. Research on the Chinese medicines treatment of T2DM needs more high-quality evidence to support, and its mechanism requires further exploration.

  16. Modified atmosphere packaging (MAP) impacts on organic Chinese red raspberry (Rubus idaeus L.) fruit on quality and active components over postharvest storage

    Science.gov (United States)

    The objective of this study was to evaluate modified atmosphere packaging (MAP) impacts on market quality and actives preservation of organic Chinese red raspberry (Rubus idaeus L.) fruit over postharvest storage. Fruit were harvested, cooled, and sorted for uniform maturity and quality. Fruit were ...

  17. 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.

  18. Identification of a Novel Mutation in Solute Carrier Family 29, Member 3 in a Chinese Patient with H Syndrome

    Institute of Scientific and Technical Information of China (English)

    Jia-Wei Liu; Nuo Si; Lian-Qing Wang; Ti Shen; Xue-Jun Zeng; Xue Zhang; Dong-Lai Ma

    2015-01-01

    Background:H syndrome (OMIM 612391) is a recently described autosomal recessive genodermatosis characterized by indurated hyperpigmented and hypertrichotic skin,as well as other systemic manifestations.Most of the cases occurred in the Middle East areas or nearby countries such as Spain or India.The syndrome is caused by mutations in solute carrier family 29,member 3 (SLC29A3),the gene encoding equilibrative nucleoside transporter 3.The aim of this study was to identify pathogenic SLC29A 3 mutations in a Chinese patient clinically diagnosed with H syndrome.Methods:Peripheral blood samples were collected from the patient and his parents.Genomic DNA was isolated by the standard method.All six SLC29A3 exons and their flanking intronic sequences were polymerase chain reaction (PCR)-amplified and the PCR products were subjected to direct sequencing.Results:The patient,an 18-year-old man born to a nonconsanguineous Chinese couple,had more extensive cutaneous lesions,involving both buttocks and knee.In his genomic DNA,we identified a novel homozygous insertion-deletion,c.1269_1270delinsA,in SLC29A3.Both of his parents were carriers of the mutation.Conclusions:We have identified a pathogenic mutation in a Chinese patient with H syndrome.

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

    Science.gov (United States)

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

    2010-04-01

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

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

    Directory of Open Access Journals (Sweden)

    Xiangjun Huang

    Full Text Available 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 suggested that the mutation is a de novo mutation. Our study extends the mutation spectrum of SEDC and confirms genotype-phenotype relationship between mutations at glycine in the triple helix of the alpha-1(II chains of the COL2A1 and clinical findings of SEDC, which may be helpful in the genetic counseling of patients with SEDC.

  1. 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.

  2. The Effects of Antismoking Messages From Family, School, and Mass Media on Smoking Behavior and Smoking Intention Among Chinese Adolescents.

    Science.gov (United States)

    Yu, Shaohua; Koplan, Jeffrey; Eriksen, Michael P; Yao, Shuo; Redmon, Pamela; Song, Julia; Uretsky, Elanah; Huang, Cheng

    2015-01-01

    The prevalence of adolescent smoking has been increasing rapidly in China. Expanding adolescent exposure to antismoking messages may be an effective approach to prevent tobacco use among this population. Using a cross-sectional sample of 8,444 high school students in four Chinese cities, this study assessed the relation between self-reported exposure to antismoking messages from families, schools, and mass media and the rate of past 30-day smoking and smoking intention among junior and senior high school students. Results from logistic regression suggested that antismoking messages delivered via school and media inhibited both tobacco use and the intention to smoke. The effects of familial warnings about harmful effects of smoking, in contrast, were at best insignificant.

  3. Clinical features and ryanodine receptor type 1 gene mutation analysis in a Chinese family with central core disease.

    Science.gov (United States)

    Chang, Xingzhi; Jin, Yiwen; Zhao, Haijuan; Huang, Qionghui; Wang, Jingmin; Yuan, Yun; Han, Ying; Qin, Jiong

    2013-03-01

    Central core disease is a rare inherited neuromuscular disorder caused by mutations in ryanodine receptor type 1 gene. The clinical phenotype of the disease is highly variable. We report a Chinese pedigree with central core disease confirmed by the gene sequencing. All 3 patients in the family presented with mild proximal limb weakness. The serum level of creatine kinase was normal, and electromyography suggested myogenic changes. The histologic analysis of muscle biopsy showed identical central core lesions in almost all of the muscle fibers in the index case. Exon 90-106 in the C-terminal domain of the ryanodine receptor type 1 gene was amplified using polymerase chain reaction. One heterozygous missense mutation G14678A (Arg4893Gln) in exon 102 was identified in all 3 patients. This is the first report of a familial case of central core disease confirmed by molecular study in mainland China.

  4. Family-environmental factors associated with attention deficit hyperactivity disorder in Chinese children: a case-control study.

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    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.

  5. Genotype-phenotype analysis of a rare type of osteogenesis imperfecta in four Chinese families with WNT1 mutations.

    Science.gov (United States)

    Liu, Yi; Song, Lijie; Ma, Doudou; Lv, Fang; Xu, Xiaojie; Wang, Jianyi; Xia, Weibo; Jiang, Yan; Wang, Ou; Song, Yuwen; Xing, Xiaoping; Asan; Li, Mei

    2016-10-01

    Osteogenesis imperfecta (OI) is a rare inherited disease characterized by increased bone fragility and vulnerability to fractures. Recently, WNT1 is identified as a new candidate gene for OI, here we detect pathogenic mutations in WNT1 and analyze the genotype-phenotype association in four Chinese families with OI. We designed a targeted next generation sequencing panel with known fourteen OI-related genes. We applied the approach to detect pathogenic mutations in OI patients and confirmed the mutations with Sanger sequencing and cosegregation analysis. Clinical fractures, bone mineral density (BMD) and the other clinical manifestations were evaluated. We also observed the effects of bisphosphonates in OI patients with WNT1 mutations. Four compound heterozygous mutations (c.110T>C; c.505 G>T; c. 385G>A; c.506 G>A) in WNT1 were detected in three unrelated families. These four mutations had not been reported yet. A recurrent homozygous mutation (c.506dupG) was identified in the other two families. These patients had moderate to severe OI, white to blue sclera, absence of dentinogenesis imperfecta and no brain malformation. We did not observe clear genotype-phenotype correlation in WNT1 mutated OI patients. Though bisphosphonates increased BMD in WNT1 related OI patients, height did not increase and fracture continued. We reported four novel heterozygous variants and confirmed a previous reported WNT1 mutation in four Chinese families with a clinical diagnosis of OI. Our study expanded OI spectrum and confirmed moderate to severe bone fragility induced by WNT1 defects. Copyright © 2016 Elsevier B.V. All rights reserved.

  6. The susceptibility gene screening in a Chinese high-altitude pulmonary edema family by whole-exome sequencing.

    Science.gov (United States)

    Yingzhong, Yang; Yaping, Wang; Jin, Xu; Rili, Ge

    2017-02-20

    High-altitude pulmonary edema (HAPE) is one of idiopathic mountain sicknesses that occur in healthy lowlanders when they quickly ascend to altitudes exceeding 2500 m above sea levels within 1-7 days. Growing evidence suggests that genetics plays an important role in the risk of HAPE. In this study, we recruited a Chinese HAPE family and screened genetic variations in the 7 family members (including 6 family members with a medical history of HAPE and the propositus's mother) by whole-exome sequencing. The results showed 18 genetic variations (9 SNVs and 9 Indels) were related to HAPE. Two SNV sites (CFHR4 (p.L85F) and OXER1 (p.R176C)) were predicted to be damaging and alter protein functions by SIFT, PolyPhen-2 and PROVEAN software. The biological function of OXER1 was highly related to the hypoxia-inducible factor pathway. Therefore, those two sites were identified as candidate pathological variations. Moreover, other SNVs (NMB p.S150P, APOB p.I4194T, EIF4ENIF1 p.Q763P) and Indels (KCNJ12 p.EE333-334E, ANKRD31 p.LMN251-253LN, OR2A14 p.HFFC175-178HFC) were also predicted to be damaging as well, which also might be considered as potential candidate pathological variations related to HAPE. Collectively we firstly screened the susceptibility genes in a Chinese HAPE family by whole-exome sequencing, which will provide new clues for further mechanistic studies of HAPE.

  7. Identification of novel CYP4V2 gene mutations in 92 Chinese families with Bietti’s crystalline corneoretinal dystrophy

    Science.gov (United States)

    Meng, Xiao Hong; Guo, Hong; Xu, Hai Wei; Li, Qi You; Jin, Xin; Bai, Yun; Li, Shi Ying

    2014-01-01

    Purpose To characterize the spectrum of CYP4V2 gene mutations in 92 unrelated Chinese probands with Bietti’s crystalline dystrophy (BCD) and to describe the molecular and clinical characteristics of four novel CYP4V2 mutations associated with BCD. Methods All study participants underwent a complete ophthalmological examination. Mutational screening of CYP4V2 coding regions and flanking intron sequences was examined via directional Sanger sequencing, with allele separation confirmed by screening other family members. Subsequent in silico analysis of the mutational consequence on protein function was undertaken, with the impact of the novel mutation on pre-mRNA splicing examined via RT–PCR. Results Fifteen disease-causing variants were identified in 92 probands with BCD, including four novel mutations and eleven previously reported mutations. The most prevalent mutation was c.802_810del17insGC, which was detected in 69 unrelated families, with an allele frequency of 52.7% (97/184). Homozygosity was revealed in 35 unrelated families, and compound heterozygosity was observed in 43 subjects. Four patients harbored four novel variants, with these mutations cosegregated within all affected individuals and were not found in unaffected family members and 100 unrelated controls. Transcriptional analysis of a novel splice mutation revealed altered RNA splicing. In silico analysis predicted that the missense variant, p.Tyr343Asp, disrupted the CYP4V2 surface electrostatic potential distribution and spatial conformation. Among the patients with four novel mutations, genotype did not always correlate with age at onset, disease course, or electroretinogram (ERG) changes, with phenotypic variations even noted within the same genotype. Conclusions The c.802_810del17insCG mutation was the most common mutation in the 92 Chinese probands with BCD examined. Four novel mutations were identified, contributing to the spectrum of CYP4V2 mutations associated with BCD, with no clear link

  8. 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.

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

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    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.

  10. A Probe into Chinese Family Welfare Policy%我国家庭福利政策探究

    Institute of Scientific and Technical Information of China (English)

    靳明明

    2016-01-01

    在人口变迁与社会发展过程中,我国家庭规模逐渐缩小,传统的家庭功能已经受到严重冲击。因此,单纯地依靠家庭能力难以摆脱贫困、医疗、就业等困境。中国的家庭福利政策属于补缺型的家庭福利政策,应当尽快向普惠型和发展型转变:从发挥政府的主导作用,加强事前预防,投资家庭成员,扩大政策受益对象等方面重构家庭福利体系。%In the context of demographic transition and social development ,family size in China has been shrinking ,and the traditional family functions have been eroding badly .Therefore ,it is difficult to get rid of poverty ,health care ,pension , employment and other difficult problems by simply relying on family ability .China is a country with complementary type of family welfare policy ,Chinese family welfare policies should be reoriented being inclusive and developmental policies as soon as possible‐we can rebuilt family‐oriented welfare system through different paths of playing the leading role of the government , enhancing beforehand prevention ,investing family members and expanding the benefit scope of family welfare policy .

  11. Personal and Family Correlates of Suicidal Ideation among Chinese Adolescents in Hong Kong

    Science.gov (United States)

    Lai Kwok, Sylvia Y. C.; Shek, Daniel T. L.

    2010-01-01

    Based on the family ecological model, personal (hopelessness, social problem solving, emotional competence) and family (parent-adolescent communication, family functioning) quality of life measures related to adolescent suicidal ideation were examined in 5,557 Secondary 1 to Secondary 4 students in Hong Kong. Results showed that suicidal ideation…

  12. Personal and Family Correlates of Suicidal Ideation among Chinese Adolescents in Hong Kong

    Science.gov (United States)

    Lai Kwok, Sylvia Y. C.; Shek, Daniel T. L.

    2010-01-01

    Based on the family ecological model, personal (hopelessness, social problem solving, emotional competence) and family (parent-adolescent communication, family functioning) quality of life measures related to adolescent suicidal ideation were examined in 5,557 Secondary 1 to Secondary 4 students in Hong Kong. Results showed that suicidal ideation…

  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. [Analysis of alpha-1,2-fucosyltransferase gene mutations in a Chinese family with para-Bombay phenotype].

    Science.gov (United States)

    Xu, Xian-guo; Hong, Xiao-zhen; Liu, Ying; Ying, Yan-ling; Tao, Su-dan; He, Yan-min; Zhu, Fa-ming; Lv, Hang-jun; Yan, Li-xing

    2010-06-01

    To investigate the molecular genetic basis of para-Bombay phenotype in a Chinese family. ABO and H phenotypes of the proband and his pedigree were characterized by serological techniques. The exons 6 and 7 of the ABO gene and full coding region of alpha-1,2-fucosyltransferase (FUT1) gene of the pedigree were analyzed by polymerase chain reaction and direct sequencing of the amplified fragments. The haplotypes of compound heterozygote of the FUT1 gene were also analyzed by cloning sequencing. Three para-Bombay phenotypes were identified in nine family members by serological technology. Three heterozygous variants (35C/T, 235G/C and 682A/G) were found in FUT1 gene of the proband, and the hapotype of FUT1 gene was h(235C)/h(35T+628G)according to the cloning sequencing. The alleles h(235C)and h(35T+628G) caused G79R, A12V and M228V amino acid substitutions in alpha-1,2-fucosyltransferase, respectively. A novel 235G>C mutation of FUT1 gene which was associated with para-Bombay phenotype was found in the Chinese pedigree.

  15. Relaxin gene family in teleosts: phylogeny, syntenic mapping, selective constraint, andexpression analysis

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    Glen Peter

    2009-12-01

    Full Text Available Abstract Background In recent years, the relaxin family of signaling molecules has been shown to play diverse roles in mammalian physiology, but little is known about its diversity or physiology in teleosts, an infraclass of the bony fishes comprising ~ 50% of all extant vertebrates. In this paper, 32 relaxin family sequences were obtained by searching genomic and cDNA databases from eight teleost species; phylogenetic, molecular evolutionary, and syntenic data analyses were conducted to understand the relationship and differential patterns of evolution of relaxin family genes in teleosts compared with mammals. Additionally, real-time quantitative PCR was used to confirm and assess the tissues of expression of five relaxin family genes in Danio rerio and in situ hybridization used to assess the site-specific expression of the insulin 3-like gene in D. rerio testis. Results Up to six relaxin family genes were identified in each teleost species. Comparative syntenic mapping revealed that fish possess two paralogous copies of human RLN3, which we call rln3a and rln3b, an orthologue of human RLN2, rln, two paralogous copies of human INSL5, insl5a and insl5b, and an orthologue of human INSL3, insl3. Molecular evolutionary analyses indicated that: rln3a, rln3b and rln are under strong evolutionary constraint, that insl3 has been subject to moderate rates of sequence evolution with two amino acids in insl3/INSL3 showing evidence of positively selection, and that insl5b exhibits a higher rate of sequence evolution than its paralogue insl5a suggesting that it may have been neo-functionalized after the teleost whole genome duplication. Quantitative PCR analyses in D. rerio indicated that rln3a and rln3b are expressed in brain, insl3 is highly expressed in gonads, and that there was low expression of both insl5 genes in adult zebrafish. Finally, in situ hybridization of insl3 in D. rerio testes showed highly specific hybridization to interstitial Leydig

  16. Improved lipids, diastolic pressure and kidney function are potential contributors to familial longevity: a study on 60 Chinese centenarian families.

    Science.gov (United States)

    He, Yong-Han; Pu, Shao-Yan; Xiao, Fu-Hui; Chen, Xiao-Qiong; Yan, Dong-Jing; Liu, Yao-Wen; Lin, Rong; Liao, Xiao-Ping; Yu, Qin; Yang, Li-Qin; Yang, Xing-Li; Ge, Ming-Xia; Li, Ying; Jiang, Jian-Jun; Cai, Wang-Wei; Kong, Qing-Peng

    2016-02-25

    Centenarians are a good healthy aging model. Interestingly, centenarians' offspring are prone to achieve longevity. Here we recruited 60 longevity families and investigated the blood biochemical indexes of family members to seek candidate factors associated with familial longevity. First, associations of blood indexes with age were tested. Second, associations of blood parameters in centenarians (CEN) with their first generation of offspring (F1) and F1 spouses (F1SP) were analyzed. Third, genes involved in regulating target factors were investigated. We found that total cholesterol (TC) and triglyceride (TG) increased with age (20-80 years), but decreased in CEN. Similarly, blood urea nitrogen (BUN) and blood creatinine (BCr) increased with age (20-80 years), but were maintained on a plateau in CEN. Importantly, we first revealed dual changes in blood pressure, i.e., decreased diastolic blood pressure but increased systolic blood pressure in CEN, which associated with altered CST3 expression. Genetic analysis revealed a significant association of blood uric acid (BUA) and BCr in CEN with F1 but not with F1SP, suggesting they may be heritable traits. Taken together, our results suggest serum lipids, kidney function and especially diastolic pressure rather than systolic pressure were improved in CEN or their offspring, suggesting these factors may play an important role in familial longevity.

  17. Regularization proximal point algorithm for finding a common fixed point of a finite family of nonexpansive mappings in Banach spaces

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    Tuyen Truong

    2011-01-01

    Full Text Available Abstract We study the strong convergence of a regularization proximal point algorithm for finding a common fixed point of a finite family of nonexpansive mappings in a uniformly convex and uniformly smooth Banach space. 2010 Mathematics Subject Classification: 47H09; 47J25; 47J30.

  18. UNIQUE COMMON FIXED POINT OF A FAMILY OF SELF-MAPS WITH SAME TYPE CONTRACTIVE CONDITION IN 2-METRIC SPACE

    Institute of Scientific and Technical Information of China (English)

    Yongjie Piao

    2008-01-01

    In this paper, we prove that a family of self-maps {TI,j}I,j ∈N in 2-metric space has a unique common fixed point if (I) {TI,j}I,j∈N satisfies the same type contractive con-main result generalizes and improves many known unique common fixed point theorems in 2-metric spaces.

  19. Families in the Military

    Science.gov (United States)

    ... Contents Facts For Families Guide - View by Topic Chinese Facts for Families Guide Facts For Families Guide - Search Spanish Facts for Families Guide Facts for Families - Vietnamese Military Families No. 88; updated March 2017 Global conflict ...

  20. Three novel ANO5 missense mutations in Caucasian and Chinese families and sporadic cases with gnathodiaphyseal dysplasia

    Science.gov (United States)

    Jin, Lingling; Liu, Yi; Sun, Fanyue; Collins, Michael T.; Blackwell, Keith; Woo, Albert S.; Reichenberger, Ernst J.; Hu, Ying

    2017-01-01

    Gnathodiaphyseal dysplasia (GDD; MIM#166260) is an autosomal dominant syndrome with characteristic cemento-osseous lesions of jawbones, bone fragility, and diaphyseal sclerosis of tubular bones. To date, only five mutations in the proposed calcium-activated chloride channel ANO5/TMEM16E gene have been identified. In this study, we describe two families and two singular patients with three new mutations. One Caucasian family with seven affected members exhibited frequent bone fractures and florid osseous dysplasia (p.Cys356Tyr), while one Chinese family with two affected members suffered from cementoma and purulent osteomyelitis (p.Cys360Tyr). In addition, two different novel mutations (p.Gly518Glu and p.Arg215Gly) were identified in sporadic patients without family history. In vitro studies overexpressing GDD mutations (p.Cys356Tyr and p.Cys360Tyr) showed significantly reduced ANO5 protein. It appears that all GDD mutations known so far locate in an extracellular domain following the first transmembrane domain or in the 4th putative transmembrane domain. Both wild-type and mutant ANO5 protein localize to the endoplasmic reticulum. After Ano5 gene knock-down with shRNA in MC3T3-E1 osteoblast precursors we saw elevated expression of osteoblast-related genes such as Col1a1, osteocalcin, osterix and Runx2 as well as increased mineral nodule formation in differentiating cells. Our data suggest that ANO5 plays a role in osteoblast differentiation. PMID:28176803

  1. Novel A CTG1 mutation causing autosomal dominant non-syndromic hearing impairment in a Chinese family

    Institute of Scientific and Technical Information of China (English)

    2008-01-01

    Theγ-actin(ACTG1)gene is a cytoplasmic nonmuscle actin gene,which encodes a major cytoskeletal protein in the sensory hair cells of the cochlea.Mutations in ACTG1 were found to cause autosomal dominant,progressive,sensorineural hearing loss linked to the DFNA 20/26 locus on chromosome 17q25.3 in European and American families,respectively.In this study,a novel missense mutation (c.364A>G;p.I122V)co-segregated with the affected individuals in the family and did not exist in the unaffected family members and 150 unrelated normal controls.The alteration of residue I1e122 was predicted to damage its interaction with actin-binding proteins,which may cause disruption of hair cell organization and function.These findings strongly suggested that the I122V mutation in ACTG1 caused autosomal dominant non-syndromic hearing impairment in a Chinese family and expanded the spectrum of ACTG1 mutations causing hearing loss.

  2. Polyalanine repeat expansion mutation of the HOXD13 gene in a Chinese family with unusual clinical manifestations of synpolydactyly.

    Science.gov (United States)

    Gong, Licheng; Wang, Binbin; Wang, Jing; Yu, Haibo; Ma, Xu; Yang, Jun

    2011-01-01

    Synpolydactyly (SPD) is an autosomal dominant limb malformation caused by mutations in the gene HOXD13. We investigated a Chinese family in which three individuals across three generations were affected with distinctive limb malformations. We extracted genomic DNA from the affected and three unaffected individuals from this family as well as 100 unrelated controls, for mutation detection by DNA sequencing. The family was characterized by camptodactyly and symphalangism of fingers two to five, transverse phalanx and osseous fusion of the third metacarpal with the proximal phalanx, as well as the coexistence of mild and more severe bilateral phenotypes. We identified a duplication mutation, c. 186-212dup, in exon 1 of the HOXD13 gene in the affected individuals from this family; it was not present in the unaffected individuals or the 100 unrelated individuals. And we also did not find polymorphism among the controls. This study has expanded the phenotypic spectrum of known HOXD13 polyalanine repeat mutations and provided more information about the polymorphic nature of the polyalanine repeat. In addition, new clinical manifestations have been added to the spectrum of possible synpolydactyly phenotypes.

  3. 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…

  4. Effectiveness of Parent-Child Interaction Therapy (PCIT) among Chinese Families

    Science.gov (United States)

    Leung, Cynthia; Tsang, Sandra; Heung, Kitty; Yiu, Ivan

    2009-01-01

    Objective: This study examined the effectiveness of Parent-Child Interaction Therapy (PCIT) among Chinese parents and children in Hong Kong with significant behavior problems. Method: The participants (intervention group, 48; comparison group, 62) completed questionnaires on child behavior problems and parenting stress before and after…

  5. 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,…

  6. 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…

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

    Science.gov (United States)

    Hao, Junhui; Wang, Jiana; Liu, Li; Wu, Wei; Wu, Hui

    2016-03-16

    As a common mental disorder, depressive symptoms had been studied extensively all over the world. However, positive resources for combating depressive symptoms among Chinese doctors were rarely studied. Our study aimed to investigate the relationships between work-family conflict (WFC) and family-work conflict (FWC) with depressive symptoms among Chinese doctors. Meanwhile, the role of perceived organizational support (POS) in this association was explored at an organizational level. The investigation was conducted between March and April 2014. Questionnaires that measured WFC, FWC, depressive symptoms and POS were distributed to 1200 doctors in Shenyang, China. The final study subjects were 931 doctors (effective response rate: 77.6%). In all analyses, male and female doctors were analyzed separately because of possible gender differences. Hierarchical linear regression analyses were used to examine the moderating role of POS. Baron and Kenny's technique and asymptotic and resampling strategies were used to explore the mediating role of POS on the associations of WFC or FWC with depressive symptoms. WFC and FWC had positive relations with depressive symptoms among doctors. POS played a partial mediating role on the correlation of FWC with depressive symptoms among male doctors, and POS played a partial mediating role on the correlation of WFC with depressive symptoms among female doctors. POS had a positive moderating effect on the relationship between WFC and depressive symptoms among doctors. WFC and FWC could aggravate doctors' depressive symptoms, and POS, as an organizational resource, could fight against doctors' depressive symptoms. When POS functioned as a mediator, FWC had a negative effect on POS, which could increase male doctors' depressive symptoms, and WFC had a negative effect on POS, which could increase female doctors' depressive symptoms. In the meantime, POS, as a moderator, could enhance the effects of WFC on depressive symptoms.

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

    Directory of Open Access Journals (Sweden)

    Ruhong Cheng

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

  9. Convergence of Path and Approximation of Common Element of Null Spaces of Countably Infinite Family of m-Accretive Mappings in Uniformly Convex Banach Spaces

    Directory of Open Access Journals (Sweden)

    E. U. Ofoedu

    2009-01-01

    a new iterative sequence for a countably infinite family of m-accretive mappings and prove strong convergence of the sequence to a common zero of these operators in uniformly convex real Banach space. Consequently, we obtain strong convergence theorems for a countably infinite family of pseudocontractive mappings. Our theorems extend and improve some important results which are announced recently by various authors.

  10. 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.

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

    Institute of Scientific and Technical Information of China (English)

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

    2016-01-01

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

  12. Convergence of a Multistep Ishikawa Iteration Algorithm for a Finite Family of Lipschitz Mappings and Its Applications

    Institute of Scientific and Technical Information of China (English)

    Yuchao TANG; Chuanxi ZHU

    2013-01-01

    The purpose of this paper is to investigate the problem of finding a common fixed point of Lipschitz mappings.We introduce a multistep Ishikawa iteration approximation method which is based upon the Ishikawa iteration method and the Noor iteration method,and we prove some necessary and sufficient conditions for the strong convergence of the iteration scheme to a common fixed point of a finite family of quasi-Lipschitz mappings and pseudocontractive mappings,respectively.In particular,we establish a strong convergence theorem of the sequence generated by the multistep Ishikawa scheme to a common fixed point of nonexpansive mappings.As applications,some numerical experiments of the multistep Ishikawa iteration algorithm are given to demonstrate the convergence results.

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

    Science.gov (United States)

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

    2007-01-01

    We report here the characterization of a four-generation Han Chinese family with Leber's hereditary optic neuropathy (LHON). This Chinese family exhibited a variable severity and age-at-onset of visual loss. Notably, the average age-at-onset of vision impairment changed from 26 years (generation III) to 14 years (generation IV), with the average of 18 years in this family. In addition, 30% and 50% of matrilineal relatives in generation III and IV of this family developed visual loss with a variability of severity, ranging from blindness to normal vision. Sequence analysis of the complete mitochondrial DNA in this pedigree revealed the presence of the homoplasmic ND4 G11778A mutation and 33 other variants, belonging to the Asian haplogroup D4. Of other variants, the homoplasmic G11696A mutation in the ND4 gene is of special interest as it was implicated to be associated with LHON in a large Dutch family and five Chinese pedigrees with extremely penetrance of visual loss. In fact, the G11696A mutation caused the substitution of an isoleucine for valine at amino acid position 313, located in a predicted transmembrane region of ND4. These imply that the G11696A mutation may act in synergy with the primary LHON-associated G11778A mutation in this Chinese pedigree.

  14. Refined mapping of the gene causing Familial Mediterranean fever, by linkage and homozygosity studies

    Energy Technology Data Exchange (ETDEWEB)

    Aksentijevich, I.; Pras, E.; Gruberg, L.; Helling, S.; Prosen, L.; Pras, M.; Kastner, D.L. (National Institute of Arthritis and Musculoskeletal and Skin Diseases, Bethesda, MD (United States)); Shen, Y.; Holman, K.; Sutherland, G.R.; Richards, R.I. (Adelaide Children' s Hospital (Australia)); Ramsburg, M.; Dean, M. (Laboratory of Viral Carcinogenesis, Frederick, MD (United States)); Amos, C.I. (Laboratory of Skin Biology, Bethesda, MD (United States))

    1993-08-01

    Familial Mediterranean fever (FMF) is an autosomal recessive disease characterized by attacks of fever and serosal inflammation; the biochemical basis is unknown. The authors recently reported linkage of the gene causing FMF (designated [open quotes]MEF[close quotes]) to two markers on chromosome 16p. To map MEF more precisely, they have now tested nine 16p markers. Two-point and multipoint linkage analysis, as well as a study of recombinant haplotypes, placed MEF between D16S94 and D16S80, a genetic interval of about 9 cM. They also examined rates of homozygosity for markers in this region, among offspring of consanguineous marriages. For eight of nine markers, the rate of homozygosity among 26 affected inbred individuals was higher than that among their 20 unaffected sibs. Localizing MEF more precisely on the basis of homozygosity rates alone would be difficult, for two reasons: First, the FMF carrier frequency increases the chance that inbred offspring could have the disease without being homozygous by descent at MEF. Second, several of the markers in this region are relatively nonpolymorphic, with a high rate of homozygosity, regardless of their chromosomal location. 30 refs., 6 figs., 2 tabs.

  15. An evaluation of the performance of HapMap SNP data in a Shanghai Chinese population: Analyses of allele frequency, linkage disequilibrium pattern and tagging SNPs transferability on chromosome 1q21-q25

    OpenAIRE

    2008-01-01

    Abstract Background The HapMap project aimed to catalog millions of common single nucleotide polymorphisms (SNPs) in the human genome in four major populations, in order to facilitate association studies of complex diseases. To examine the transferability of Han Chinese in Beijing HapMap data to the Southern Han Chinese in Shanghai, we performed comparative analyses between genotypes from over 4,500 SNPs in a 21 Mb region on chromosome 1q21-q25 in 80 unrelated Shanghai Chinese and 45 HapMap C...

  16. Novel WISP3 mutations causing spondyloepiphyseal dysplasia tarda with progressive arthropathy in two unrelated Chinese families.

    Science.gov (United States)

    Liu, Limin; Li, Nan; Zhao, Zhen; Li, Wei; Xia, Weibo

    2015-03-01

    Spondyloepiphyseal dysplasia tarda with progressive arthropathy (SEDT-PA) is an autosomal recessive skeletal disorder resulting from pathogenic mutations in the Wnt1-inducible signaling pathway protein 3 (WISP3) gene. This disorder predominantly involves the skeletal system, with the leading features of platyspondyly, metaphyseal dysplasia of limbs and extremities, and progressive degeneration of joints. To date, 53 distinct forms of WISP3 mutations have been detected globally, eleven of which originated from Chinese patients. In the current study, we reported the clinical manifestations and radiographic features of two unrelated Chinese SEDT-PA patients. Through genetic analysis, two novel mutations (c.624delA, c.105dupT) as well as one recurrent mutation (c.342T>G) were identified in the WISP3 gene. Our study contributed to the further expansion of the WISP3 mutation spectrum, and demonstrated the genotype-phenotype relationship between mutations in the WISP3 gene and clinical findings of SEDT-PA.

  17. A novel nonsense mutation in the MIP gene linked to congenital posterior polar cataracts in a Chinese family.

    Directory of Open Access Journals (Sweden)

    Zixun Song

    Full Text Available To detect the causative mutation for congenital posterior polar cataracts in a five-generation Chinese family and further explore the potential pathogenesis of this disease.Coding exons, with flanking sequences of five candidate genes, were screened using direct DNA sequencing. The identified mutations were confirmed by restriction fragment length polymorphism (RFLP analysis. A full-length wild-type or an Y219* mutant aquaporin0 (AQP0 fused with an N-terminal FLAG tag, was transfected into HEK293T cells. For co-localization studies, FLAG-WT-AQP0 and Myc-Y219*-AQP0 constructs were co-transfected. Quantitative real-time RT-PCR, western blotting and immunofluorescence studies were performed to determine protein expression levels and sub-cellular localization, respectively.We identified a novel nonsense mutation in MIP (c.657 C>G; p.Y219* (major intrinsic protein gene that segregates with congenital posterior polar cataract in a Chinese family. This mutation altered a highly conserved tyrosine to a stop codon (Y219* within AQP0.When FLAG-WT-AQP0 and FLAG-Y219*-AQP0 expression constructs were singly transfected into HEK 293T cells, mRNA expression showed no significant difference between the wild-type and the mutant, while Y219*-AQP0 protein expression was significantly lower than that of wild-type AQP0. Wild-type AQP0 predominantly localized to the plasma membrane, while the mutated protein was abundant within the cytoplasm of HEK293T cells. However, when FLAG-WT-AQP0 andMyc-MU-AQP0were co-expressed, both proteins showed high fluorescence in the cytoplasm.The novel nonsense mutation in the MIP gene (c.657 C>G identified in a Chinese family may cause posterior polar cataracts. The dominant negative effect of the mutated protein on the wild-type protein interfered with the trafficking of wild-type protein to the cell membrane and both the mutant and wild-type protein were trapped in the cytoplasm. Consequently, both wild-type and mutant protein lost

  18. 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…

  19. Toward a Theory of Family and Revolution: Reflections on the Chinese Case.

    Science.gov (United States)

    Stacey, Judith

    1979-01-01

    Attempts to theorize about the relationship between family and revolutionary change have been based largely upon the Russian case and have adopted universalistic functionalist and modernization approaches. Three major contrasts in the course of family revolution in China challenge the validity of these interpretations. (Author)

  20. Molecular genetic analysis of partial 9p trisomy in two Chinese families with mental retardation and facial anomaly.

    Science.gov (United States)

    Feng, Aiping; Dai, Xiaohua; Wang, Xiaoran; Gao, Yong; Luo, Ruili; Li, Yulei; Zhang, Na; Liu, Jingyu

    2011-08-01

    Mental retardation is defined by significant limitations in intellectual function and adaptive behavior that occur before 18 years of age. Many chromosomal diseases come with mental retardation. We reported two Chinese families with partial trisomy 9p and other chromosome partial monosomy, clinical features of mental retardation and mild facial and pinkie anomalies. In the family 1, we showed that the proband carried a trisomy 9p21.3→pter and monosomy 21q22.3→qter by using fluorescence in situ hybridization analysis. Molecular genetic analysis defined the precise breakpoint on chromosome 9p between markers D9S1846 and D9S171, an interval of about 2.9 Mb on 9p21.3, and the breakpoint on chromosome 21q between markers D21S1897 and D21S1446, a region of about 1.5 Mb on 21q22.3. In the family 2, a patient with trisomy 9p21.3→pter and monosomy 5p15.33→pter, and a de novo maternal balanced translocation between chromosomes 5 and 9 was identified in his mother. Cytogenetic and molecular genetic analysis defined the precise breakpoints on chromosome 9p21.3 and chromosome 5p15.33. Further clinical investigation found that any individual had no refractoriness eczema disease except the proband in this family. These results further implicate that trisomy 9p is associated with mental retardation, and that there may be key gene duplication on chromosome 9p21.3→9pter responsible for mental retardation and mild facial anomaly. This result has been applied successfully in prenatal diagnosis of the second family.

  1. 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.

  2. Hb Tarrant [α126(H9)Asp→Asn; HBA2: c.379G > A (or HBA1)] in a Chinese Family as a Cause of Familial Erythrocytosis.

    Science.gov (United States)

    Ip, Ka Ling Rosalina; So, Jason Chi-Chiu; Law, Man-Fai; Wong, Raymond S M; Tam, Ho Chi; Ng, Margaret H L

    2016-08-01

    Hb Tarrant [α126(H9)Asp→Asn; HBA2: c.379G > A (or HBA1)], is a rare high oxygen affinity hemoglobin (Hb) variant that causes erythrocytosis, previously described in a few Mexican-American families. Here we report the first Chinese family with this Hb variant presenting with unexplained familial erythrocytosis. No evidence of hemolysis was seen. A locally adapted approach to the diagnostic process in clinical laboratories is discussed. Molecular analysis has an important role in confirmation of the diagnosis. Proper identification of this rare but clinically significant Hb variant is helpful for family counseling and will help to guide appropriate management of absolute erythrocytosis.

  3. Genetic dissection of powdery mildew resistance in interspecific half-sib grapevine families using SNP-based maps.

    Science.gov (United States)

    Teh, Soon Li; Fresnedo-Ramírez, Jonathan; Clark, Matthew D; Gadoury, David M; Sun, Qi; Cadle-Davidson, Lance; Luby, James J

    2017-01-01

    Quantitative trait locus (QTL) identification in perennial fruit crops is impeded largely by their lengthy generation time, resulting in costly and labor-intensive maintenance of breeding programs. In a grapevine (genus Vitis) breeding program, although experimental families are typically unreplicated, the genetic backgrounds may contain similar progenitors previously selected due to their contribution of favorable alleles. In this study, we investigated the utility of joint QTL identification provided by analyzing half-sib families. The genetic control of powdery mildew was studied using two half-sib F1 families, namely GE0711/1009 (MN1264 × MN1214; N = 147) and GE1025 (MN1264 × MN1246; N = 125) with multiple species in their ancestry. Maternal genetic maps consisting of 1077 and 1641 single nucleotide polymorphism (SNP) markers, respectively, were constructed using a pseudo-testcross strategy. Ratings of field resistance to powdery mildew were obtained based on whole-plant evaluation of disease severity. This 2-year analysis uncovered two QTLs that were validated on a consensus map in these half-sib families with improved precision relative to the parental maps. Examination of haplotype combinations based on the two QTL regions identified strong association of haplotypes inherited from 'Seyval blanc', through MN1264, with powdery mildew resistance. This investigation also encompassed the use of microsatellite markers to establish a correlation between 206-bp (UDV-015b) and 357-bp (VViv67) fragment sizes with resistance-carrying haplotypes. Our work is one of the first reports in grapevine demonstrating the use of SNP-based maps and haplotypes for QTL identification and tagging of powdery mildew resistance in half-sib families.

  4. Protecting Your Family From Earthquakes-The Seven Steps to Earthquake Safety (in English, Chinese, Vietnamese, and Korean)

    Science.gov (United States)

    Developed by American Red Cross, Asian Pacific Fund

    2007-01-01

    This book is provided here because of the importance of preparing for earthquakes before they happen. Experts say it is very likely there will be a damaging San Francisco Bay Area earthquake in the next 30 years and that it will strike without warning. It may be hard to find the supplies and services we need after this earthquake. For example, hospitals may have more patients than they can treat, and grocery stores may be closed for weeks. You will need to provide for your family until help arrives. To keep our loved ones and our community safe, we must prepare now. Some of us come from places where earthquakes are also common. However, the dangers of earthquakes in our homelands may be very different than in the Bay Area. For example, many people in Asian countries die in major earthquakes when buildings collapse or from big sea waves called tsunami. In the Bay Area, the main danger is from objects inside buildings falling on people. Take action now to make sure your family will be safe in an earthquake. The first step is to read this book carefully and follow its advice. By making your home safer, you help make our community safer. Preparing for earthquakes is important, and together we can make sure our families and community are ready. English version p. 3-13 Chinese version p. 14-24 Vietnamese version p. 25-36 Korean version p. 37-48

  5. Identification of a Novel MYO15A Mutation in a Chinese Family with Autosomal Recessive Nonsyndromic Hearing Loss.

    Directory of Open Access Journals (Sweden)

    Hong Xia

    Full Text Available Autosomal recessive nonsyndromic hearing loss (ARNSHL is a genetically heterogeneous sensorineural disorder, generally manifested with prelingual hearing loss and absence of other clinical manifestations. The aim of this study is to identify the pathogenic gene in a four-generation consanguineous Chinese family with ARNSHL. A novel homozygous variant, c.9316dupC (p.H3106Pfs*2, in the myoxin XVa gene (MYO15A was identified by exome sequencing and Sanger sequencing. The homozygous MYO15A c.9316dupC variant co-segregated with the phenotypes in the ARNSHL family and was absent in two hundred normal controls. The variant was predicted to interfere with the formation of the Myosin XVa-whirlin-Eps8 complex at the tip of stereocilia, which is indispensable for stereocilia elongation. Our data suggest that the homozygous MYO15A c.9316dupC variant might be the pathogenic mutation, and exome sequencing is a powerful molecular diagnostic strategy for ARNSHL, an extremely heterogeneous disorder. Our findings extend the mutation spectrum of the MYO15A gene and have important implications for genetic counseling for the family.

  6. A nonsense mutation of γD-crystallin associated with congenital nuclear and posterior polar cataract in a Chinese family.

    Science.gov (United States)

    Zhai, Yi; Li, Jinyu; Zhu, Yanan; Xia, Yan; Wang, Wei; Yu, Yinhui; Yao, Ke

    2014-01-01

    The goal of this study was to characterize the disease-causing mutations in a Chinese family with congenital nuclear and posterior polar cataracts. Clinical data of patients in the family were recorded using slit-lamp photography and high definition video. Genomic DNA samples were extracted from the peripheral blood of the pedigree members and 100 healthy controls. Mutation screening was performed in the candidate genes by bi-directional sequencing of the amplified products. The congenital cataract phenotype of the pedigree was identified by slit-lamp examinations and observation during surgery as nuclear and posterior polar cataracts. Through the sequencing of the candidate genes, a heterozygous c. 418C>T change was detected in the coding region of the γD-crystallin gene (CRYGD). As a result of this change, a highly conserved arginine residue was replaced by a stop codon (p. R140X). This change was discovered among all of the affected individuals with cataracts, but not among the unaffected family members or the 100 ethnically matched controls. This study identified a novel congenital nuclear and posterior polar cataract phenotype caused by the recurrent mutation p. R140X in CRYGD.

  7. Identification of a GJA3 mutation in a Chinese family with congenital nuclear cataract using exome sequencing.

    Science.gov (United States)

    Guo, Yi; Yuan, Lamei; Yi, Junhui; Xiao, Jingjing; Xu, Hongbo; Lv, Hongwei; Xiong, Wei; Zheng, Wen; Guan, Liping; Zhang, Jianguo; Xiang, Hong; Qi, Yong; Deng, Hao

    2013-08-01

    Congenital cataract, a clinically and genetically heterogeneous lens disorder is defined as any opacity of the lens presented from birth and is responsible for approximately 10% of worldwide childhood poor vision or blindness. To identify the genetic defect responsible for congenital nuclear cataract in a four-generation Chinese Han family, exome and direct Sanger sequencings were conducted and a missense variant c.139G>A (p.D47N) in the gap junction protein-alpha 3 gene (GJA3) was identified. The variant co-segregated with patients of the family and was not observed in unaffected family members or normal controls. The above findings indicated that the variant was a pathogenic mutation. The mutation p.D47N was found in the first extracellular loop (El) domain of GJA3 protein. Our data suggest that exome sequencing is a powerful tool to discover mutation(s) in cataract, a disorder with high genetic heterogeneity. Our findings may also provide new insights into the cause and diagnosis of congenital nuclear cataract and have implications for genetic counseling.

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

    Directory of Open Access Journals (Sweden)

    Xue Gao

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

  9. 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.

  10. 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.

  11. Monotone Hybrid Projection Algorithms for an Infinitely Countable Family of Lipschitz Generalized Asymptotically Quasi-Nonexpansive Mappings

    Directory of Open Access Journals (Sweden)

    Watcharaporn Cholamjiak

    2009-01-01

    Full Text Available We prove a weak convergence theorem of the modified Mann iteration process for a uniformly Lipschitzian and generalized asymptotically quasi-nonexpansive mapping in a uniformly convex Banach space. We also introduce two kinds of new monotone hybrid methods and obtain strong convergence theorems for an infinitely countable family of uniformly Lipschitzian and generalized asymptotically quasi-nonexpansive mappings in a Hilbert space. The results improve and extend the corresponding ones announced by Kim and Xu (2006 and Nakajo and Takahashi (2003.

  12. Hierarchy of rational order families of chaotic maps with an invariant measure

    Indian Academy of Sciences (India)

    M A Jafarizadeh; M Foroutan; S Ahadpour

    2006-12-01

    We introduce an interesting hierarchy of rational order chaotic maps that possess an invariant measure. In contrast to the previously introduced hierarchy of chaotic maps [1–5], with merely entropy production, the rational order chaotic maps can simultaneously produce and consume entropy. We compute the Kolmogorov–Sinai entropy of these maps analytically and also their Lyapunov exponent numerically, where the obtained numerical results support the analytical calculations.

  13. 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.

  14. Chinese Folk"Family"Culture%中国民间“香火”文化初探

    Institute of Scientific and Technical Information of China (English)

    谢国荣

    2015-01-01

    "Incense" customs reflect the ancient Chinese with the fear and worship of the gods of heaven and earth, and folk "incense" stems mainly from China's profound traditional family ethics and clan. A shrine is the core content of "incense". In the old days, in addition to ancestors and the emperors, only teachers could be consecrated by“incense”on a shrine which indicated that the teachers had lofty posi⁃tion in the minds of the Chinese nation.%“香火”习俗反映了中国古人对天地诸神的敬畏和崇拜,而民间“香火”主要源于中国深厚的家庭伦理和宗族传统。神位,是“香火”的核心内容。在旧时代,除了祖先和国君之外,人世间能够上香火让人供奉的人就是老师,可见老师在中华民族心目中的崇高地位。

  15. 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.

  16. A novel GJA3 mutation associated with congenital nuclear pulverulent and posterior polar cataract in a Chinese family.

    Science.gov (United States)

    Yao, Ke; Wang, Wei; Zhu, Yanan; Jin, Chongfei; Shentu, Xingchao; Jiang, Jin; Zhang, Yidong; Ni, Shuang

    2011-12-01

    Congenital cataract (CC) is the leading cause of visual disability in children. To date, mutations in many genes have been linked to CC. In a four-generation Chinese family with congenital nuclear pulverulent and posterior polar cataracts, we detected a heterozygous c.5G>A transition in the second exon of GJA3, resulting in the substitution of a highly conserved glycine with aspartic acid (p.G2D) at the N-terminus of the connexin46 (Cx46) protein. Wild type (wt) and mutant Cx46 plasmids were transfected into HeLa cells to examine the molecular basis of cataract formation. Unlike wt Cx46, Cx46G2D mutant formed gap junction plaques inefficiently, changed hemichannel permeability, and caused apoptosis. These results suggest that the glycine residue at the second position of the N-terminus is important for gap junction plaque formation and hemichannel function. © 2011 Wiley Periodicals, Inc.

  17. 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.

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

    Science.gov (United States)

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

    2012-07-10

    Osteogenesis imperfect (OI) is a heritable connective tissue disorder with bone fragility as a cardinal manifestation, accompanied by short stature, dentinogenesis imperfecta, hyperlaxity of ligaments and skin, blue sclerae and hearing loss. Dominant form of OI is caused by mutations in the type I procollagen genes, COL1A1/A2. Here we identified a novel splicing mutation c.3207+1G>A (GenBank ID: JQ236861) in the COL1A1 gene that caused type I OI in a Chinese family. RNA splicing analysis proved that this mutation created a new splicing site at c.3200, and then led to frameshift. This result further enriched the mutation spectrum of type I procollagen genes. Copyright © 2012 Elsevier B.V. All rights reserved.

  19. 中国民营企业国际化转型问题研究%Research on the International Transformation of Chinese Family Businesses

    Institute of Scientific and Technical Information of China (English)

    叶笛

    2012-01-01

    With the coming of economic crisis, the Chinese family businesses meet new opportunities and challenges. How the family businesses deal with the crisis and comply with the international trends of restructuring are practical problems that the current government and the family entrepreneurs must face and deal with. Firstly, new challenges of the environment which the Chinese family enterprises face in the economic crisis are examined in this article. In addition, this article expli-cates reasons for the international transformation of family firms in China, as well as questions existing in it. At last, the strategy for the international transformation of Chinese family businesses is proposed.%经济危机给我国民营企业带来了机遇与挑战,民营企业如何应对危机,顺应国际化转型趋势,这是我国政府与民营企业家当前必须面对的现实问题.首先探讨经济危机下我国民营企业面临生存环境的新挑战,其次解析我国民营企业国际化战略转型的动因,及我国民营企业国际化转型中的困惑,最后提出了我国民营企业国际化转型的思路.

  20. Oyster-based national mapping of trace metals pollution in the Chinese coastal waters.

    Science.gov (United States)

    Lu, Guang-Yuan; Ke, Cai-Huan; Zhu, Aijia; Wang, Wen-Xiong

    2017-03-02

    To investigate the distribution and variability of trace metal pollution in the Chinese coastal waters, over 1000 adult oyster individuals were collected from 31 sites along the entire coastline, spanning from temperate to tropical regions (Bohai Sea, Yellow Sea, East China Sea and South China Sea), between August and September 2015. Concentrations of macroelements [sodium (Na), potassium (K), calcium (Ca), magnesium (Mg) and phosphorus (P)] and trace elements [cadmium (Cd), copper (Cu), zinc (Zn), nickel (Ni), lead (Pb), chromium (Cr), silver (Ag), and titanium (Ti)] in these oysters were concurrently measured and analyzed. The results showed high Ti, Zn and Cu bioaccumulation in oysters from Guangdong (South China Sea) and Zhejiang (East China Sea). Oysters at Nanji Island (Wenzhou) and Daya Bay (Huizhou) accumulated significantly high concentrations of Ni and Cr. The elements in these oysters were several times higher than the national food safety limits of China. On the other hand, the present study found that normalization of metals by salinity (Na) and nutrient (P) could reflect more details of metal pollution in the oysters. Biomonitoring of metal pollution could benefit from incorporating the macroelement calibration instead of focusing only on the total metal concentrations. Overall, simultaneous measurement of macroelements and trace metals coupled with non-linear analysis provide a new perspective for revealing the underlying mechanism of trace metal bioavailability and bioaccumulation in marine organisms.

  1. 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…

  2. 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

    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 the interdependence among family members. Structural equation models showed that, during early adolescence, parent-child American orientation discrepancy is related to parents’ use of unsupportive parenting practices; parents’ use of unsupportive parenting is related to increased sense of alienation between parents and children, which in turn is related to more depressive symptoms and lower academic performance in Chinese American adolescents. These patterns of negative adjustment established in early adolescence persist into middle adolescence. This mediating effect is more apparent among father-adolescent dyads than among mother-adolescent dyads. In contrast, parent-child Chinese orientation discrepancy does not demonstrate a significant direct or indirect effect on adolescent adjustment, either concurrently or longitudinally. The current findings suggest that early adolescence is more susceptible to the negative effects of parent-child acculturation discrepancy; they also underscore the importance of fathering in Chinese immigrant families. PMID:22799587

  3. "Do I Have a Choice?" The Influences of Family Values and Investments on Chinese Migrant Young People's Lifestyles and Physical Activity Participation in Australia

    Science.gov (United States)

    Pang, Bonnie; Macdonald, Doune; Hay, Peter

    2015-01-01

    This paper examines Chinese migrant young people's lifestyles and physical activity experiences in relation to the values and cultural investments of their families in Australia. The data in this paper were taken from a larger-scale study underpinned by a critical and interpretive ethnographic method conducted in two school sites. The young…

  4. Marital Construction of Family Power among Male-out-Migrant Couples in a Chinese Village: A Relation-Oriented Exchange Model

    Science.gov (United States)

    Zuo, Jiping

    2008-01-01

    This study examines marital construction of family power among male-out-migrant couples in a Chinese village in Guangxi Province. In-depth interviews show that male-out-migrant couples prefer joint decision making. When couples are in disputes, power tends to go to the ones who shoulder greater household-based responsibilities; in this case, they…

  5. Obsessive-compulsive symptoms and personal disposition, family coherence and school environment in Chinese adolescents: a resilience approach.

    Science.gov (United States)

    Sun, Jing; Li, Zhan-Jiang; Buys, Nicholas J; Storch, Eric A; Wang, Ji-sheng

    2014-10-01

    Risk factors of adolescents with obsessive-compulsive symptoms (OC) have been extensively examined, but protective resilience factors have not been explored, particularly in Chinese adolescents. This study aimed to investigate the association of resilience factors with the occurrence of OC and its symptoms in Chinese adolescents. This study consisted of two phases. The first phase used a cross-sectional design involving a stratified clustered non-clinical sample of 3185 secondary school students. A clinical interview procedure was then employed to diagnose OC in students who had a Leyton Obsessional Inventory 'yes' score of ≥15. The second phase used a case-control study design to analyse the relationship between resilience factors and OC in a matched sample of 288 adolescents with diagnosed OC relative to 246 healthy adolescents. Low personal disposition scores in self-fulfilment, flexibility and self-esteem, and low peer relation scores in the school environment were associated with a higher probability of having OC. Canonical correlation analysis indicated that OC symptoms were significantly associated with personal dispositions, poor peer relationships and maladaptive social life, but not to family coherence. The study is not prospective in nature, so the causal relationship between OC occurrence and resilience factors cannot be confirmed. Second, the use of self-report instruments in personal disposition, family coherence, and school environment may be a source of error. Resilience factors at both the personal disposition and school environment levels are important predictors of OC symptoms and caseness. Future studies using prospective designs are needed to confirm these relationships. Copyright © 2014 Elsevier B.V. All rights reserved.

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

    Science.gov (United States)

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

    2014-03-01

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

  7. 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.

  8. Fine Mapping of a Clubroot Resistance Gene in Chinese Cabbage Using SNP Markers Identified from Bulked Segregant RNA Sequencing

    Science.gov (United States)

    Huang, Zhen; Peng, Gary; Liu, Xunjia; Deora, Abhinandan; Falk, Kevin C.; Gossen, Bruce D.; McDonald, Mary R.; Yu, Fengqun

    2017-01-01

    Clubroot, caused by Plasmodiophora brassicae, is an important disease of canola (Brassica napus) in western Canada and worldwide. In this study, a clubroot resistance gene (Rcr2) was identified and fine mapped in Chinese cabbage cv. “Jazz” using single-nucleotide polymorphisms (SNP) markers identified from bulked segregant RNA sequencing (BSR-Seq) and molecular markers were developed for use in marker assisted selection. In total, 203.9 million raw reads were generated from one pooled resistant (R) and one pooled susceptible (S) sample, and >173,000 polymorphic SNP sites were identified between the R and S samples. One significant peak was observed between 22 and 26 Mb of chromosome A03, which had been predicted by BSR-Seq to contain the causal gene Rcr2. There were 490 polymorphic SNP sites identified in the region. A segregating population consisting of 675 plants was analyzed with 15 SNP sites in the region using the Kompetitive Allele Specific PCR method, and Rcr2 was fine mapped between two SNP markers, SNP_A03_32 and SNP_A03_67 with 0.1 and 0.3 cM from Rcr2, respectively. Five SNP markers co-segregated with Rcr2 in this region. Variants were identified in 14 of 36 genes annotated in the Rcr2 target region. The numbers of poly variants differed among the genes. Four genes encode TIR-NBS-LRR proteins and two of them Bra019410 and Bra019413, had high numbers of polymorphic variants and so are the most likely candidates of Rcr2. PMID:28894454

  9. Characterization of cDNA from the miracidial antigen family of Schistosoma japonicum (Chinese strain)

    Institute of Scientific and Technical Information of China (English)

    余传信; 平山謙二; 朱荫昌; 菊池三惠子; 殷旭仁

    2003-01-01

    Objective To identify the egg antigens related to the formation of hepatic granulomas and fibrosis of Schistosomiasis japonica.Methods The egg cDNA library of Schistosoma japonicum (S.japonicum) was constructed and screened by immunological methods with the pooled sera of advanced schistosomiasis patients. The inserted foreign DNA fragments of positive clones were sequenced. The sequence data were analyzed using Wdnasis 2.5 and compared with Genebank data using blast software. Conclusion The cDNA sequence of the miracidial antigen of S.japonicum (Chinese strain) was obtained for the first time.

  10. 基于中文语法树的概念图挖掘研究%Concept map mining based on Chinese grammar tree

    Institute of Scientific and Technical Information of China (English)

    王鉴全; 季绍波

    2012-01-01

    提出一种基于中文文本语法树的附有权重的简化概念图构造算法.在构造概念图过程中,使用剪枝算法解决概念图的权重度量问题.对一些权威新闻资讯网页进行概念图挖掘的实验证明,本文算法比较有效.%This paper proposes a weighted simple concept map constructing algorithm based on Chinese grammar tree.In the process of constructing concept map,trimming algorithm is used to solve the problem of computing the weight of a concept map.Concept map mining tests on some authoritative news webpage show that the proposed algorithm is effective.

  11. 基于知识图谱的国内家族企业研究可视化分析%The Visualization Analysis on Family Business Research in China Based on Mapping Knowledge Domains

    Institute of Scientific and Technical Information of China (English)

    郑迪松; 王河森

    2016-01-01

    为梳理国内家族企业领域研究状况,以CSSCI数据库收录的1998-2014年间国内家族企业研究领域的1043篇文献为样本,运用信息可视化软件CiteSpace Ⅲ进行统计与可视化分析,结果显示:研究机构以高校为主;机构和作者合作具有比较明显的区域特征;费孝通、储小平、陈凌、李新春等学者在该领域具有较大的影响力;《管理世界》、Family Business Review、《经济研究》等期刊受到国内研究者的高度关注;家族企业经营管理、家族控制与家族治理、家族企业治理与代理、家族企业制度安排、产权与家族化管理、家族企业继承与成长等问题是家族企业研究热点。%Taking 1043 papers on family business research from CSSCI database published during 1998-2014 as data sample, this paper used CiteSpaceⅢ to do statistic analyse and draw the knowledge maps. It shows that the research institutions are mainly colleges and universities; the cooperation between the institutions and the authors has obvious regional characteristics; Fei Xiaotong, Chu Xiaoping, Chen Ling and Li Xinchun have great inlfuences in the ifeld; Management World(Chinese) , Family Business Review(English) , Economic Research Journal(Chinese) are highly attracted by domestic researchers; family business management, family control and family governance, family business governance and agency relationship, family business system arrangement, property rights and family management, family business succession and growth are the hot points of family business research.

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

    Science.gov (United States)

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

    2009-03-01

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

  13. 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.

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

    Science.gov (United States)

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

    2010-08-20

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

  15. Convergence Theorem for Generalized Mixed Equilibrium Problem and Common Fixed Point Problem for a Family of Multivalued Mappings

    Directory of Open Access Journals (Sweden)

    J. N. Ezeora

    2016-01-01

    Full Text Available In this paper, a new hybrid iterative algorithm is constructed using the shrinking projection method introduced by Takahashi. The sequence of the algorithm is proved to converge strongly to a common element of the set of solutions of generalized mixed equilibrium problem and the set of common fixed points of a finite family of multivalued strictly pseudocontractive mappings in real Hilbert spaces. Furthermore, we apply our main result to convex minimization problem.

  16. Elderly’s Family Life Supplies - Innovative Chinese Checkers Game Board

    Science.gov (United States)

    CHAO, Fanglin

    2017-09-01

    The product design course for industrial design students was implemented in our university which spans 9 weeks. Throughout the creativity rules and field study, students achieve high standard on problem identification and concept generation. The prototype test with elderly in design projects is helpful to make students with deeper understand user demand, which in turn enhance the concept further. Traditional Chinese checkers are redesigned using special checkers with different height or shape and specific rules to increase user interest and game diversity. Game is more challenging due to location weighting on score calculation to planning its strategies. Redesign Chinese checkers game board include reconfigurable board and several shape checkers. Checkers has 3 parts: standing ring body, the base body, both support the side holding structure. The body shows slightly concave to facilitate the fingers hold. The upper portion of the body is provided with different shapes extension section which can be engaged with base body. Player move the checker to the opposite target area. When one of player moved all the checkers to the opposite target area; they shift to the scoring calculation stage. The participant may develop specific strategy to gain higher score by maximized weighted checkers into its target block regions.

  17. Accurate Breakpoint Mapping in Apparently Balanced Translocation Families with Discordant Phenotypes Using Whole Genome Mate-Pair Sequencing

    Science.gov (United States)

    Aristidou, Constantia; Koufaris, Costas; Theodosiou, Athina; Bak, Mads; Mehrjouy, Mana M.; Behjati, Farkhondeh; Tanteles, George; Christophidou-Anastasiadou, Violetta; Tommerup, Niels

    2017-01-01

    Familial apparently balanced translocations (ABTs) segregating with discordant phenotypes are extremely challenging for interpretation and counseling due to the scarcity of publications and lack of routine techniques for quick investigation. Recently, next generation sequencing has emerged as an efficacious methodology for precise detection of translocation breakpoints. However, studies so far have mainly focused on de novo translocations. The present study focuses specifically on familial cases in order to shed some light to this diagnostic dilemma. Whole-genome mate-pair sequencing (WG-MPS) was applied to map the breakpoints in nine two-way ABT carriers from four families. Translocation breakpoints and patient-specific structural variants were validated by Sanger sequencing and quantitative Real Time PCR, respectively. Identical sequencing patterns and breakpoints were identified in affected and non-affected members carrying the same translocations. PTCD1, ATP5J2-PTCD1, CADPS2, and STPG1 were disrupted by the translocations in three families, rendering them initially as possible disease candidate genes. However, subsequent mutation screening and structural variant analysis did not reveal any pathogenic mutations or unique variants in the affected individuals that could explain the phenotypic differences between carriers of the same translocations. In conclusion, we suggest that NGS-based methods, such as WG-MPS, can be successfully used for detailed mapping of translocation breakpoints, which can also be used in routine clinical investigation of ABT cases. Unlike de novo translocations, no associations were determined here between familial two-way ABTs and the phenotype of the affected members, in which the presence of cryptic imbalances and complex chromosomal rearrangements has been excluded. Future whole-exome or whole-genome sequencing will potentially reveal unidentified mutations in the patients underlying the discordant phenotypes within each family. In

  18. Mapping the Paths from Styles of Anger Experience and Expression to Obsessive–Compulsive Symptoms: The Moderating Roles of Family Cohesion and Adaptability

    Directory of Open Access Journals (Sweden)

    Liang Liu

    2017-05-01

    Full Text Available Previous research has shown strong connections of anger experience and expression with obsessive–compulsive (OC symptoms. Additionally, studies have demonstrated links between family environment variables and obsessive–compulsive disorder (OCD. Our study aims to integrate the perspectives from these two literatures by exploring the moderating roles of family cohesion and family adaptability in the relationship between anger proneness and suppression and OCD symptoms. A total of 2008 college students were recruited from a comprehensive university in Shanghai, China between February and May 2016. The subjects completed self-report inventories, including the Symptom Check List-90, State-Trait Anger Expression Inventory 2 (Chinese version, and Family Adaptability and Cohesion Scale, second edition (Chinese Version. Controlling for age, one-child family status, ethnicity, family income, current depression, and anxiety, our analyses showed that the association between anger proneness and OC symptoms was moderated by family cohesion among men and that family adaptability moderated the connection between anger suppression and OC complaints among women. The findings imply that a more cohesive and empathic family environment may protect male students with high levels of anger proneness from developing OC behaviors or thoughts. The results suggest that for female subjects who are accustomed to suppressing angry feelings, flexible family coping strategies and communication atmospheres would reduce their vulnerability to OC symptoms. The findings are somewhat consistent with those of previous studies on psychotherapy outcomes that showed that OCD patients benefitted from psychotherapeutic interventions that cultivated the clients’ family cohesion and adaptability.

  19. Microsatellite-centromere mapping in Japanese scallop ( Patinopecten yessoensis) through half-tetrad analysis in gynogenetic diploid families

    Science.gov (United States)

    Li, Qi; Qi, Mingjun; Nie, Hongtao; Kong, Lingfeng; Yu, Hong

    2016-06-01

    Gene-centromere mapping is an essential prerequisite for understanding the composition and structure of genomes. Half-tetrad analysis is a powerful tool for mapping genes and understanding chromosomal behavior during meiosis. The Japanese scallop ( Patinopecten yessoensis), a cold-tolerant species inhabiting the northwestern Pacific coast, is a commercially important marine bivalve in Asian countries. In this study, inheritance of 32 informative microsatellite loci was examined in 70-h D-shaped larvae of three induced meiogynogenetic diploid families of P. yessoensis for centromere mapping using half-tetrad analysis. The ratio of gynogenetic diploids was proven to be 100%, 100% and 96% in the three families, respectively. Inheritance analysis in the control crosses showed that 51 of the 53 genotypic ratios observed were in accordance with Mendelian expectations at the 5% level after Bonferroni correction. Seven of the 32 microsatellite loci showed the existence of null alleles in control crosses. The second division segregation frequency ( y) of the microsatellite loci ranged from 0.07 to 0.85 with a mean of 0.38, suggesting the existence of positive interference after a single chiasma formation in some chromosomes in the scallop. Microsatellite-centromere distances ranged from 4 cM to 42 cM under the assumption of complete interference. Information on the positions of centromeres in relation to the microsatellite loci will represent a contribution towards the assembly of genetic maps in the commercially important scallop species.

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

    Institute of Scientific and Technical Information of China (English)

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

    2008-01-01

    AIM:To detect the MLH1 gene promoter germlinemethylation in probands of Chinese hereditary nonpolyposis colorectal cancer (HNPCC),and to evaluate the role of methylation in MLH1 gene promoter and molecular genetics in screening for HNPCC.METHODS:The promoter germline methylation of MLH1 gene was detected by methylation-specific PCR (MSP) in 18 probands from unrelated HNPCC families with high microsatellite-instability (MSI-H) phenotype but without germline mutations in MSH2,MLH1 and MSH6 genes.At the same time,6 kindreds were collected with microsatellite-stability (MSS) phenotype but without germline mutations in MSH2,MLH1 and MSH6 genes as controls.The results of MSP were confirmed by clone sequencing.To ensure the reliability of the results,family H65 with nonsense germline mutation at c.2228C>A in MSH2 gene was used as the negative control and the cell line sw48 was used as the known positive control along with water as the blank control.Immunochemical staining of MLH1 protein was performed with Envision two-step method in those patients with aberrant methylation to judge whether the status of MLH1 gene methylation affects the expression of MLH1 protein.RESULTS:Five probands with MLH1 gene promoter methylation were detected in 18 Chinese HNPCC families with MSI-H phenotype but without germline mutations in MSH2,MLH1 and MSH6 genes.Two of the five probands from families H10 and H29 displayed exhaustive-methylation,fulfilling the Japanese criteria (JC) and the Amsterdam criteria (AC),respectively.The other 3 probands presented part-methylation fulfilling the AC.Of the 13 probands with unmethylation phenotype,8 fulfilled the JC and the Bethesda guidelines (BG),5 fulfilled the AC.The rate of aberrant methylation in MLH1 gene in the AC group (22.2%,4/18) was higher than that in the JC/BG groups (5.6%,1/18) in all HNPCC families with MSI-H phenotype but without germline mutations in MSH2,MLH1 and MSH6 genes.However,no proband with methylation in MLH1 gene was found

  1. An Examination of Fast Mapping Skills in Preschool Children from Families with Low Socioeconomic Status

    Science.gov (United States)

    Spencer, Elizabeth J.; Schuele, C. Melanie

    2012-01-01

    Researchers consistently report that children from low socioeconomic status (SES) families have, on average, smaller vocabularies as assessed by measures of existing vocabulary knowledge than children from higher SES families. Yet, few studies have examined the word-learning process of children from low SES families. The present study was an…

  2. 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

  3. A Missense Mutation in Epsilon-subunit of Acetylcholine Receptor Causing Autosomal Dominant Slow-channel Congenital Myasthenic Syndrome in a Chinese Family

    Institute of Scientific and Technical Information of China (English)

    Jia-Ze Tan; Yuan Man; Fei Xiao

    2016-01-01

    Background:Congenital myasthenic syndromes are a group orrare disorders that are clinically and genetically heterogeneous and caused by mutations in the genes encoding proteins of the neuromuscular junction.Here,we described a Chinese family that presented with phenotypes of classic slow-channel congenital myasthenic syndrome (SCCMS).Methods:Clinical characteristics and electrophysiological features of three patients from a Chinese family were examined,and next-generation sequencing followed by direct sequencing was carried out.Results:The patients revealed variability in clinical and electrophysiological features.However,weakness,scoliosis,and repetitive-compound muscle action potential were found in all affected members in the family.A heterozygous C>T missense mutation at nucleotide 865 in acetylcholine receptor epsilon-subunit (CHRNE) gene that causes a leucine-to-phenylalanine substitution at position 289 (L289F) was found.Conclusions:We reported a SCCMS family of Chinese origin.In the family,classical clinical phenotype with phenotypic variability among different members was found.Genetic testing could help diagnose this rare disease.

  4. Hereditary osteogenesis imperfecta in a Chinese family%遗传性成骨不全家系分析

    Institute of Scientific and Technical Information of China (English)

    2013-01-01

      目的探讨遗传性成骨不全(osteogenesis imperfecta,OI)一家系特征。方法2011年6月对河南安阳OI家系进行问卷调查、专科检查,搜集临床资料,绘制家系图谱,分析临床特点和遗传方式。结果该家系4代40人,患者10例,现存活患者7例,其中男5例,女2例。存活7例均存在骨折病史、骨骼畸形、蓝色巩膜、牙齿发育异常,3例听力受损,3例出现骨折愈合不良。结论该家系临床诊断符合Sillence I型成骨不全,遗传方式为常染色体显性遗传。%Objective To study the features of hereditary osteogenesis imperfecta in a Chinese family tree. Methods Hereditary osteogenesis imperfecta in a family of Anyang City, Henan Province, China, was investigated with questionnaire. The family underwent examination in our department and its clinical data were collected. An atlas was plotted for the family. The clinical features of hereditary osteogenesis imperfecta and its hereditary mode were analyzed. Results There were 40 members including 4 generations in the family. Of the 10 members with hereditary osteogenesis imperfecta, 7 were survivors (5 males and 2 females) with a history of fracture, bone deformity, blue sclera and teeth dysplasia, 3 had hearing impairment and 3 had poor fracture healing. Conclusion The clinical diagnosis of hereditary osteogenesis imperfecta in the family is consistent with Sillence I osteogenesis imperfecta with autosomal dominant inheritance as its hereditary mode.

  5. Novel Mutations and Mutation Combinations of TMPRSS3 Cause Various Phenotypes in One Chinese Family with Autosomal Recessive Hearing Impairment

    Science.gov (United States)

    Wang, Guo-Jian; Xu, Jin-Cao; Su, Yu

    2017-01-01

    Autosomal recessive hearing impairment with postlingual onset is rare. Exceptions are caused by mutations in the TMPRSS3 gene, which can lead to prelingual (DFNB10) as well as postlingual deafness (DFNB8). TMPRSS3 mutations can be classified as mild or severe, and the phenotype is dependent on the combination of TMPRSS3 mutations. The combination of two severe mutations leads to profound hearing impairment with a prelingual onset, whereas severe mutations in combination with milder TMPRSS3 mutations lead to a milder phenotype with postlingual onset. We characterized a Chinese family (number FH1523) with not only prelingual but also postlingual hearing impairment. Three mutations in TMPRSS3, one novel mutation c.36delC [p.(Phe13Serfs⁎12)], and two previously reported pathogenic mutations, c.916G>A (p.Ala306Thr) and c.316C>T (p.Arg106Cys), were identified. Compound heterozygous mutations of p.(Phe13Serfs⁎12) and p.Ala306Thr manifest as prelingual, profound hearing impairment in the patient (IV: 1), whereas the combination of p.Arg106Cys and p.Ala306Thr manifests as postlingual, milder hearing impairment in the patient (II: 2, II: 3, II: 5), suggesting that p.Arg106Cys mutation has a milder effect than p.(Phe13Serfs⁎12). We concluded that different combinations of TMPRSS3 mutations led to different hearing impairment phenotypes (DFNB8/DFNB10) in this family. PMID:28246597

  6. Identification of a novel missense mutation of MIP in a Chinese family with congenital cataracts by target region capture sequencing

    Science.gov (United States)

    Jiang, Bo; chen, Yanhua; Xu, Baisheng; Hong, Nan; Liu, Rongrong; Qi, Ming; Shen, Liping

    2017-01-01

    Congenital cataract is both clinically diverse and genetically heterogeneous. To investigate the underlying genetic defect in three-generations of a Chinese family with autosomal dominant congenital cataracts, we recruited family members who underwent comprehensive ophthalmic examinations. A heterozygous missense mutation c.634G > C (p.G212R) substitution was identified in the MIP gene through target region capture sequencing. The prediction results of PolyPhen-2 and SIFT indicated that this mutation was likely to damage the structure and function of MIP. Confocal microscopy images showed that the intensity of the green fluorescent signal revealed much weaker signal from the mutant compared to the wild-type MIP. The expressed G212R-MIP was diminished and almost exclusively cytoplasmic in the HeLa cells; whereas the WT-MIP was stable dispersed throughout the cytoplasm, and it appeared to be in the membrane structure. Western blot analysis indicated that the protein expression level of the mutant form of MIP was remarkably reduced compared with that of the wild type, however, the mRNA levels of the wild-type and mutant cells were comparable. In conclusion, our study presented genetic and functional evidence for a novel MIP mutation of G212R, which leads to congenital progressive cortical punctate with or without Y suture. PMID:28059152

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

    Science.gov (United States)

    Lu, Yanping; Peng, Hongmei; Jin, Zhanguo; Cheng, Jing; Wang, Shufang; Ma, Minyue; Lu, Yu; Han, Dongyi; Yao, Yuanqing; Li, Yali; Yuan, Huijun

    2013-01-01

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

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

    Directory of Open Access Journals (Sweden)

    Yanping Lu

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

  9. Alpha-synuclein in familial Alzheimer disease: epitope mapping parallels dementia with Lewy bodies and Parkinson disease.

    Science.gov (United States)

    Lippa, C F; Schmidt, M L; Lee, V M; Trojanowski, J Q

    2001-11-01

    Alpha-synuclein is a major component of Lewy bodies (LBs) in Parkinson disease and dementia with LBs and of glial cytoplasmic inclusions in multiple system atrophy. However, epitope mapping for alpha-synuclein is distinctive in different neurodegenerative diseases. The reasons for this are poorly understood but may reflect fundamental differences in disease mechanisms. To investigate the alpha-synuclein epitope mapping properties of LBs in familial Alzheimer disease. We compared LBs in familial Alzheimer disease with those in synucleinopathies by probing 6 brains of persons with familial Alzheimer disease using a panel of antibodies to epitopes spanning the alpha-synuclein protein. Results were compared with data from brains of persons with Parkinson disease, dementia with LBs, and multiple system atrophy. The brains of persons with familial Alzheimer disease showed consistent staining of LBs with all antibodies, similar to Parkinson disease and dementia with LBs but different from alpha-synuclein aggregates that occurred in multiple system atrophy. These data suggest that the epitope profiles of alpha-synuclein in LBs are similar, regardless of whether the biological trigger is related to synuclein or a different genetic pathway. These findings support the hypothesis that the mechanism of alpha-synuclein aggregation is the same within cell types but distinctive between cell types.

  10. Language Socialization and Interculturality: Address Terms in Intergenerational Talk in Chinese Diasporic Families

    Science.gov (United States)

    Hua, Zhu

    2010-01-01

    This paper aims to contribute to the current debate on "interculturality" (IC) by investigating the process of language socialization whereby different generations of diasporic families negotiate, construct, and renew their sociocultural values and identities through interaction. Focusing on the use of address terms and "talk about social,…

  11. Hereditary neuropathy with liability to pressure palsy: an investigation in a rare and large Chinese family.

    Science.gov (United States)

    He, Yuan; Wu, Qiang; Xu, Zhipeng; Wang, Qianqian; Wang, Weili; Li, Dezhong; Liu, Wanhong; He, Xiaohua

    2012-01-01

    Hereditary neuropathy with liability to pressure palsy (HNPP), mainly associated with the peripheral myelin protein 22 (PMP22) gene, is generally an autosomal-dominant inherited peripheral neuropathy. The present large family including four generations provides an exciting opportunity to gain important insights into HNPP in China. A large 43-member family with ten members suspected to be affected by HNPP was studied. Neurologic examinations, electrophysiological and neuropathological studies and molecular genetic testing were used for these kindred. Clinically, the proband had limb hyposthenia and atrophy, and his mother showed declined tendon reflexes in the right lower limb. Electrophysiologically, sensory and motor nerve conduction velocities were generalized reduced. Sural nerve biopsy for the proband showed focal thickesning of the myelin sheaths. Furthermore, real-time quantitative PCR demonstrated that the PMP22 gene has a higher Ct value than reference gene in all suspected patients. These results indicated that the family is indeed a rare and large pedigree of HNPP caused by the deletion of PMP22 gene. Given that the suspected patient in the fourth generation is absent, this family is still worthy of further follow-up study. Copyright © 2012 S. Karger AG, Basel.

  12. 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…

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

    Science.gov (United States)

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

    2016-01-01

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

  14. 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…

  15. Hong Kong Chinese Community Leaders' Perspectives on Family Health, Happiness and Harmony: A Qualitative Study

    Science.gov (United States)

    Chan, Sophia S. C.; Viswanath, K.; Au, Doreen W. H.; Ma, C. M. S.; Lam, W. W. T.; Fielding, R.; Leung, G. M.; Lam, Tai-Hing

    2011-01-01

    This paper examines the views of Hong Kong community leaders on the underlying issues that affect family health, happiness and harmony (3Hs) in Hong Kong. Using a community reconnaissance method, a series of individual in-depth interviews with 26 leaders that represent neighbourhoods of diverse socio-economic status (SES) from June to August 2008…

  16. Hong Kong Chinese Community Leaders' Perspectives on Family Health, Happiness and Harmony: A Qualitative Study

    Science.gov (United States)

    Chan, Sophia S. C.; Viswanath, K.; Au, Doreen W. H.; Ma, C. M. S.; Lam, W. W. T.; Fielding, R.; Leung, G. M.; Lam, Tai-Hing

    2011-01-01

    This paper examines the views of Hong Kong community leaders on the underlying issues that affect family health, happiness and harmony (3Hs) in Hong Kong. Using a community reconnaissance method, a series of individual in-depth interviews with 26 leaders that represent neighbourhoods of diverse socio-economic status (SES) from June to August 2008…

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

    Science.gov (United States)

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

    2016-01-01

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

  18. A GCG expansion (GCG)₁₁ in polyadenylate-binding protein nuclear 1 gene caused oculopharyngeal muscular dystrophy in a Chinese family.

    Science.gov (United States)

    Ye, Juan; Zhang, Huina; Zhou, Yandan; Wu, Han; Wang, Changjun; Shi, Xin

    2011-01-01

    To identify the mutation in polyadenylate-binding protein nuclear 1 gene (PABPN1, previously termed PABP2) in a Chinese family with autosomal, dominantly inherited oculopharyngeal muscular dystrophy (OPMD). Clinical and ophthalmologic examinations were conducted on available living family members from three generations. Genomic DNA was extracted from peripheral blood leukocytes of every available family member, and the fragment flanking the (GCG)(n) of the PABPN1 gene was amplified by PCR. Mutations were screened by DNA sequencing. Photographs of deceased family members were examined for signs of OPMD. Clinical features of OPMD were found in all patients in generation II except the youngest sister, and no clinical manifestations were found in generation III. Mutation sequencing demonstrated that (GCG)₆ in the wild PABPN1 gene was expanded to heterozygous (GCG)₁₁ in all affected family members and in some but not all unaffected members. In a Chinese family with autosomal dominantly inherited OPMD, a heterozygous (GCG)₁₁ expansion was identified in all affected family members and in several young unaffected members.

  19. Water quality and small-scale land use mapping in the South-Chinese megacity Guangzhou

    Science.gov (United States)

    Strohschoen, R.; Azzam, R.; Baier, K.

    2011-12-01

    Since China adopted its "open-door" policy in 1978/ 79, the Pearl River Delta became one of the most rapid and dynamic urbanizing areas in East Asia due to migration, industrialization and globalization processes. The study area Guangzhou grew from a small town to a megacity with some 15 million inhabitants within less than 30 years. The rapid population growth and the urban and industrial expansion led to a remarkably increasing demand for freshwater, a high water consume and a rising sewage production. While economy and house constructions developed very fast, the expansion of water infrastructures could not keep pace with the urban growth. The consequences arising out of these situations are a serious deterioration of the surface and groundwater resources but also a degradation of living conditions and a threat to human health, particularly of the urban poor. In contrast to other studies that often consider the surface water quality outside Guangzhou, our focus was put on the urban Pearl River and its tributaries as well as urban groundwater and tap water. The study was conducted to spatially investigate the present status of the water quality in view of the concurrent formal and informal anthropogenic influences. Additional land use mapping was undertaken to analyze the interrelations between different land use types and water quality and to determine local pollution hotspots which should be taken into particular consideration of future city planning. Supplementing interviews were hold to find out usage patterns of groundwater and strategies to cope with both insufficient tap water quality and water infrastructures. A total of 74 surface water samples and 16 groundwater samples of privately and publicly accessible wells were taken at the beginning of the rainy season in May 2010. Those samples were partly compared to measurements carried out from 2007-2009, where adequate. Further, 15 tap water samples were taken in 2007/ 08 to draw conclusions about possible

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

    Science.gov (United States)

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

    2013-11-01

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