Negotiating identity at the intersection of paediatric and genetic medicine: the parent as facilitator, narrator and patient.

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Dimond, Rebecca

2014-01-01

This article identifies a significant transformation in the role and identity of parents accompanying their child to clinic. This shift is a product of the intersection between paediatric and genetic medicine, where parents play a critical role in providing information about their child, family and ultimately, about themselves. To provide a context for this matrix, two broad areas of sociological inquiry are highlighted. The first is explanations of the role a parent plays in paediatric medicine and the second is the diagnostic process in paediatric genetics and the implications for parent and child identities. Drawing from an ethnographic study of clinical consultations, attention is paid to the changing role of parenthood and the extended role of patienthood in paediatric genetic medicine. © 2013 The Author. Sociology of Health & Illness © 2013 Foundation for the Sociology of Health & Illness/John Wiley & Sons Ltd.

Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech.

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Beate Peter

Full Text Available Childhood apraxia of speech (CAS is a severe and socially debilitating form of speech sound disorder with suspected genetic involvement, but the genetic etiology is not yet well understood. Very few known or putative causal genes have been identified to date, e.g., FOXP2 and BCL11A. Building a knowledge base of the genetic etiology of CAS will make it possible to identify infants at genetic risk and motivate the development of effective very early intervention programs. We investigated the genetic etiology of CAS in two large multigenerational families with familial CAS. Complementary genomic methods included Markov chain Monte Carlo linkage analysis, copy-number analysis, identity-by-descent sharing, and exome sequencing with variant filtering. No overlaps in regions with positive evidence of linkage between the two families were found. In one family, linkage analysis detected two chromosomal regions of interest, 5p15.1-p14.1, and 17p13.1-q11.1, inherited separately from the two founders. Single-point linkage analysis of selected variants identified CDH18 as a primary gene of interest and additionally, MYO10, NIPBL, GLP2R, NCOR1, FLCN, SMCR8, NEK8, and ANKRD12, possibly with additive effects. Linkage analysis in the second family detected five regions with LOD scores approaching the highest values possible in the family. A gene of interest was C4orf21 (ZGRF1 on 4q25-q28.2. Evidence for previously described causal copy-number variations and validated or suspected genes was not found. Results are consistent with a heterogeneous CAS etiology, as is expected in many neurogenic disorders. Future studies will investigate genome variants in these and other families with CAS.

Genetic Candidate Variants in Two Multigenerational Families with Childhood Apraxia of Speech.

Science.gov (United States)

Peter, Beate; Wijsman, Ellen M; Nato, Alejandro Q; Matsushita, Mark M; Chapman, Kathy L; Stanaway, Ian B; Wolff, John; Oda, Kaori; Gabo, Virginia B; Raskind, Wendy H

2016-01-01

Childhood apraxia of speech (CAS) is a severe and socially debilitating form of speech sound disorder with suspected genetic involvement, but the genetic etiology is not yet well understood. Very few known or putative causal genes have been identified to date, e.g., FOXP2 and BCL11A. Building a knowledge base of the genetic etiology of CAS will make it possible to identify infants at genetic risk and motivate the development of effective very early intervention programs. We investigated the genetic etiology of CAS in two large multigenerational families with familial CAS. Complementary genomic methods included Markov chain Monte Carlo linkage analysis, copy-number analysis, identity-by-descent sharing, and exome sequencing with variant filtering. No overlaps in regions with positive evidence of linkage between the two families were found. In one family, linkage analysis detected two chromosomal regions of interest, 5p15.1-p14.1, and 17p13.1-q11.1, inherited separately from the two founders. Single-point linkage analysis of selected variants identified CDH18 as a primary gene of interest and additionally, MYO10, NIPBL, GLP2R, NCOR1, FLCN, SMCR8, NEK8, and ANKRD12, possibly with additive effects. Linkage analysis in the second family detected five regions with LOD scores approaching the highest values possible in the family. A gene of interest was C4orf21 (ZGRF1) on 4q25-q28.2. Evidence for previously described causal copy-number variations and validated or suspected genes was not found. Results are consistent with a heterogeneous CAS etiology, as is expected in many neurogenic disorders. Future studies will investigate genome variants in these and other families with CAS.

Adolescent Family Context and Adult Identity Formation

Science.gov (United States)

Benson, Janel E.; Johnson, Monica Kirkpatrick

2009-01-01

This study examines the links between adolescent family context and coming to see oneself as an adult. Using data from the National Longitudinal Study of Adolescent Health, the authors investigate how adolescent family structure, resources, and processes together influence adult identity and whether they do so similarly for men and women. The…

The Family in Us: Family History, Family Identity and Self-Reproductive Adaptive Behavior.

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Ferring, Dieter

2017-06-01

This contribution is an essay about the notion of family identity reflecting shared significant experiences within a family system originating a set of signs used in social communication within and between families. Significant experiences are considered as experiences of events that have an immediate impact on the adaptation of the family in a given socio-ecological and cultural context at a given historical time. It is assumed that family history is stored in a shared "family memory" holding both implicit and explicit knowledge and exerting an influence on the behavior of each family member. This is described as transgenerational family memory being constituted of a system of meaningful signs. The crucial dimension underlying the logic of this essay are the ideas of adaptation as well as self-reproduction of systems.

IDENTITY FORMATION AMONG PRIMARY SCHOOL-AGED CHILDREN IN DYSFUNCTIONAL FAMILIES

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V. G. Bulygina

2015-01-01

Full Text Available Primary school age is a stage of significant personal changes of a child, including the identity formation as a result of a major restructuring of the system of relations of the child within the family. Background: The aim is to study the influence of a dysfunctional family system on the identity formation of primary school-aged children. Methods: There were examined seven-year-old children, secondary school pupils from families with signs of dysfunctionality (n =42. To assess interfamilial relations there were used proprietary methodologies and standardized tests diagnosing a role structure of the family, emotional sphere of children, peculiarities of the child identification with family members, signs of the family dysfunctionality. Results: It is revealed that the process of identity formation in primary school-aged children in dysfunctional families is characterized by expressed difficulties in identifying himself with family members. In 33% of cases the low hierarchical position and the typical female role characteristics are ascribed to father. To the contrary, the male social role position in 47% of cases is attributed to mother. The ambivalence of the child’s self-relation and his relation to family members is revealed. Therewith, 38% of girls’ profiles coincide either with the set of characteristics of fathers, or equally with sets of characteristics of both parents. The negative emotional state is diagnosed in 62% of children. Conclusion: It is established that in dysfunctional families the interfamilial relations and role structure have specific features, negatively influencing on the child development and the formation of his personality.Key words: children, primary school age, dysfunctional family, identity formation.

[Prenatal genetic counseling and instruction for deaf families by genetic test].

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Han, Ming-yu; Huang, Sha-sha; Wang, Guo-jian; Yuan, Yong-yi; Kang, Dong-yang; Zhang, Xin; Dai, Pu

2011-11-01

Analyzed the molecular pathogenesis of probands by means of genetic test and assisted the local Family Planning Institute by providing prenatal genetic counseling and instruction for deaf families who eager to have more baby. Total of forty-three deaf families were recruited by two institutes for family planning from Guangzhou and Weifang. Forty-two families had one deaf child with normal hearing parents. One family was that parents and their child were all deaf. Genetic testing of GJB2, SLC26A4 and mitochondrial DNA (mtDNA) 12SrRNA were firstly performed in probands and their parents, following medical history, physical examination, auditory test and CT scan of temporal bone were completed. And then the genetic information and instruction were provided to each deaf family. Fifteen of these 43 families had positive results of genetic test. In fifteen families, one family was confirmed that the parents and their child all carried homozygous GJB2 mutations and the recurrence risk was 100%. Twelve families were confirmed that the probands carried homozygous/compound GJB2 or SLC26A4 mutations while their parents were GJB2 or SLC26A4 carriers, and the recurrence risk was 25%. One family was confirmed that the proband, diagnosed with enlarged vestibular aqueduct syndrome (EVAS) by CT scan, carried heterozygous SLC26A4 mutation from the mother, and the recurrence risk was still 25% based on the hereditary pattern of EVAS although another SLC26A4 mutation from the father was not found. One family was confirmed that the proband carried a heterozygous GJB2 mutation from the mother and the possibility to be GJB2 carrier for offsprings was 50%. The rest 28 families were that all probands and their parents did not carry GJB2, SLC26A4 and mtDNA 12SrRNA pathological mutation. Genetic testing can provide more accurate and useful prenatal genetic counseling and instruction to deaf families. Meanwhile, it is an ideal way to develop a cooperative relationship with the institute for

Family support and acceptance, gay male identity formation, and psychological adjustment: a path model.

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Elizur, Y; Ziv, M

2001-01-01

While heterosexist family undermining has been demonstrated to be a developmental risk factor in the life of persons with same-gender orientation, the issue of protective family factors is both controversial and relatively neglected. In this study of Israeli gay males (N = 114), we focused on the interrelations of family support, family acceptance and family knowledge of gay orientation, and gay male identity formation, and their effects on mental health and self-esteem. A path model was proposed based on the hypotheses that family support, family acceptance, family knowledge, and gay identity formation have an impact on psychological adjustment, and that family support has an effect on gay identity formation that is mediated by family acceptance. The assessment of gay identity formation was based on an established stage model that was streamlined for cross-cultural practice by defining three basic processes of same-gender identity formation: self-definition, self-acceptance, and disclosure (Elizur & Mintzer, 2001). The testing of our conceptual path model demonstrated an excellent fit with the data. An alternative model that hypothesized effects of gay male identity on family acceptance and family knowledge did not fit the data. Interpreting these results, we propose that the main effect of family support/acceptance on gay identity is related to the process of disclosure, and that both general family support and family acceptance of same-gender orientation play a significant role in the psychological adjustment of gay men.

A loss in the family: silence, memory, and narrative identity after bereavement.

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Baddeley, Jenna; Singer, Jefferson A

2010-02-01

Grief theories have converged on the idea that the sharing of autobiographical memory narratives of loss and of the deceased person, especially within the family, is a major way to maintain and/or reconfigure a healthy sense of identity after a loss. In contrast, we examine unspoken memory-the withholding of socially sharing autobiographical memories about the loss and the departed family member-as a way to either conserve an existing narrative identity or assert a new narrative identity. Depending on its context and function, silence about memory can play either a positive or negative role in an individual griever's ongoing narrative identity, as well as in the larger family narrative in which the griever's identity is embedded.

THE ROLE OF FAMILY SOCIALIZING IN BUILDING GENDER IDENTITY

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Adina Magda lena IORGA

2015-06-01

Full Text Available Socialization is an interactive communication process that requires individual development and social influences, thus highlighting personal reception and interpretation of social messages, as well as the intensity and content dynamic of these social influences. In this context, family socialization represents the main model of the of gender interactions, of defining gender identity composition and gender expectations. Gender socialization within the family setting is very important because it internalizes the gender rules and ideologies, assimilating gender content from the two significant figures: Mom and Dad. This content is a fundamental cornerstone for building gender identity. The research aims to identify the views of students from the Veterinary Medicine University of Bucharest regarding the role of family socialization in the construction of gender identity. The research results confirm a trend of perception for most students towards the innovative socializing model, based on equality in the distribution of tasks within the family. However, there are differences between the genders in terms of perception and comprehension of the role of women and men. Thus, it appears that some of the students believe that the woman carries most of the household domestic tasks, while some students assigned the traditional role of financial support for the entire family to the men.

Genetics and human rights: Two histories: restoring genetic identity after forced disappearance and identity suppression in Argentina and after compulsory isolation for leprosy in Brazil

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Penchaszadeh, Victor B.; Schuler-Faccini, Lavinia

2014-01-01

Over the past three decades, there has been an accelerated development of genetic technology, leading to its use in human genetic identification for many purposes. Additionally, it has been made explicit that identity is a fundamental human right. A number of historical circumstances have connected these developments. Personal identity is increasingly associated with the preservation and defense of human rights and is a tool to repair the violation of these rights, particularly the right to i...

Germline Genetic Modification and Identity: the Mitochondrial and Nuclear Genomes.

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Scott, Rosamund; Wilkinson, Stephen

2017-12-01

In a legal 'first', the UK removed a prohibition against modifying embryos in human reproduction, to enable mitochondrial replacement techniques (MRTs), a move the Government distanced from 'germline genetic modification', which it aligned with modifying the nuclear genome. This paper (1) analyzes the uses and meanings of this term in UK/US legal and policy debates; and (2) evaluates related ethical concerns about identity. It shows that, with respect to identity, MRTs and nuclear genome editing techniques such as CRISPR/Cas-9 (now a policy topic), are not as different as has been supposed. While it does not follow that the two should be treated exactly alike, one of the central reasons offered for treating MRTs more permissively than nuclear genetic modification, and for not regarding MRTs as 'germline genetic modification', is thereby in doubt. Identity cannot, by itself, do the work thus far assigned to it, explicitly or otherwise, in law and policy.

Composing Identities: Films, Families and Racism

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Aitken, Stuart C.; Jokisch, Brad D.; Boone, Christopher G.

2003-01-01

With this paper, I elaborate the use of the movies "American History X" and "Mi Familia" in classroom settings to highlight issues of ethnicity and the social construction of identity through families and communities. Taken together, these movies draw attention to racial geographies of Los Angeles but in very different ways. I…

Combining Gender, Work, and Family Identities: The Cross-Over and Spill-Over of Gender Norms into Young Adults' Work and Family Aspirations.

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Meeussen, Loes; Veldman, Jenny; Van Laar, Colette

2016-01-01

The current study investigates how descriptive and prescriptive gender norms that communicate work and family identities to be (in)compatible with gender identities limit or enhance young men and women's family and career aspirations. Results show that young adults ( N = 445) perceived gender norms to assign greater compatibility between female and family identities and male and work identities than vice versa, and that young men and women mirror their aspirations to this traditional division of tasks. Spill-over effects of norms across life domains and cross-over effects of norms across gender-groups indicated that young women, more than young men, aimed to 'have it all': mirroring their career ambitions to a male career model, while keeping their family aspirations high. Moreover, young women opposed traditional role divisions in the family domain by decreasing their family aspirations in face of norms of lower family involvement or higher career involvement of men. Conversely, in line with traditional gender roles, young men showed lower family aspirations in the face of strong male career norms; and showed increases in their career aspirations when perceiving women to take up more family roles. Young men's family aspirations were, however, more influenced by new norms prescribing men to invest more in their family, suggesting opportunities for change. Together, these findings show that through social norms, young adults' gender identity affects aspirations for how to manage the co-presence of their work and family identities. Altering these norms may provide leverage for change to allow both men and women to combine their multiple identities in an enriching way.

Exploring genetic responsibility for the self, family and kin in the case of hereditary raised cholesterol.

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Weiner, Kate

2011-06-01

This paper explores the notion of genetic responsibility, i.e. the responsibility to know and manage one's own genome for oneself and the sake of others, focusing particularly on responsibilities to family and kin. It also considers wider ideas about the emergence of new forms of biological subjectivities with which the concept of genetic responsibility is associated. The paper draws on a UK-based study concerned with lay constructions of familial hypercholesterolaemia (FH), a treatable inherited form of high cholesterol, which involved qualitative interviews with 31 people with the condition recruited through a specialist outpatient clinic. The paper is an attempt to open out discussions about the significance of genetic responsibility and biological subjectivity. I argue that in this study, FH was not associated with a notable family narrative of illness or a strongly defined specific disease community, and no clear sense emerged of obligations to kin or others derived through genetic risks or genetic connections. While responsibilities concerned with the welfare of oneself and one's existing offspring were enunciated, obligations to other potential or actual kin, e.g. to tell and encourage kin to manage their risks, were much less clearly defined. Drawing on these findings, I start to address questions about the pervasiveness of genetic responsibility and genetic identity and the contexts in which they might be significant. Copyright © 2010 Elsevier Ltd. All rights reserved.

Combining gender, work, and family identities: The cross-over and spill-over of gender norms into young adults’ work and family aspirations

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Loes Meeussen

2016-11-01

Full Text Available The current study investigates how descriptive and prescriptive gender norms that communicate work and family identities to be (incompatible with gender identities limit or enhance young men and women’s family and career aspirations. Results show that young adults (N=445 perceived gender norms to assign greater compatibility between female and family identities and male and work identities than vice versa, and that young men and women mirror their aspirations to this traditional division of tasks. Spill-over effects of norms across life domains and cross-over effects of norms across gender-groups indicated that young women, more than young men, aimed to ‘have it all’: mirroring their career ambitions to a male career model, while keeping their family aspirations high. Moreover, young women opposed traditional role divisions in the family domain by decreasing their family aspirations in face of norms of lower family involvement or higher career involvement of men. Conversely, in line with traditional gender roles, young men showed lower family aspirations in the face of strong male career norms; and showed increases in their career aspirations when perceiving women to take up more family roles. Young men’s family aspirations were, however, more influenced by new norms prescribing men to invest more in their family, suggesting opportunities for change. Together, these findings show that through social norms, young adults’ gender identity affects aspirations for how to manage the co-presence of their work and family identities. Altering these norms may provide leverage for change to allow both men and women to combine their multiple identities in an enriching way.

Combining Gender, Work, and Family Identities: The Cross-Over and Spill-Over of Gender Norms into Young Adults’ Work and Family Aspirations

Science.gov (United States)

Meeussen, Loes; Veldman, Jenny; Van Laar, Colette

2016-01-01

The current study investigates how descriptive and prescriptive gender norms that communicate work and family identities to be (in)compatible with gender identities limit or enhance young men and women’s family and career aspirations. Results show that young adults (N = 445) perceived gender norms to assign greater compatibility between female and family identities and male and work identities than vice versa, and that young men and women mirror their aspirations to this traditional division of tasks. Spill-over effects of norms across life domains and cross-over effects of norms across gender-groups indicated that young women, more than young men, aimed to ‘have it all’: mirroring their career ambitions to a male career model, while keeping their family aspirations high. Moreover, young women opposed traditional role divisions in the family domain by decreasing their family aspirations in face of norms of lower family involvement or higher career involvement of men. Conversely, in line with traditional gender roles, young men showed lower family aspirations in the face of strong male career norms; and showed increases in their career aspirations when perceiving women to take up more family roles. Young men’s family aspirations were, however, more influenced by new norms prescribing men to invest more in their family, suggesting opportunities for change. Together, these findings show that through social norms, young adults’ gender identity affects aspirations for how to manage the co-presence of their work and family identities. Altering these norms may provide leverage for change to allow both men and women to combine their multiple identities in an enriching way. PMID:27909416

Identity Profiles in Lesbian, Gay, and Bisexual Youth: The Role of Family Influences

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Bregman, Hallie R.; Malik, Neena M.; Page, Matthew J. L.; Makynen, Emily; Lindahl, Kristin M.

2012-01-01

Sexual identity development is a central task of adolescence and young adulthood and can be especially challenging for sexual minority youth. Recent research has moved from a stage model of identity development in lesbian, gay, and bisexual (LGB) youth to examining identity in a non-linear, multidimensional manner. In addition, although families have been identified as important to youth's identity development, limited research has examined the influence of parental responses to youth's disclosure of their LGB sexual orientation on LGB identity. The current study examined a multidimensional model of LGB identity and its links with parental support and rejection. One hundred and sixty-nine LGB adolescents and young adults (ages 14–24, 56% male, 48% gay, 31% lesbian, 21% bisexual) described themselves on dimensions of LGB identity and reported on parental rejection, sexuality-specific social support, and non-sexuality-specific social support. Using latent profile analysis (LPA), two profiles were identified, indicating that youth experience both affirmed and struggling identities. Results indicated that parental rejection and sexuality-specific social support from families were salient links to LGB identity profile classification, while non-sexuality specific social support was unrelated. Parental rejection and sexuality-specific social support may be important to target in interventions for families to foster affirmed LGB identity development in youth. PMID:22847752

Children's gender identity in lesbian and heterosexual two-parent families

NARCIS (Netherlands)

Bos, H.; Sandfort, T.G.M.

2010-01-01

This study compared gender identity, anticipated future heterosexual romantic involvement, and psychosocial adjustment of children in lesbian and heterosexual families; it was furthermore assessed whether associations between these aspects differed between family types. Data were obtained in the

Lessons learned from family history in ocular genetics.

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Marino, Meghan J

2015-07-01

Given the vast genetic and phenotypic heterogeneity seen in ocular genetic disorders, considering a patient's clinical phenotype in the context of the family history is essential. Clinicians can improve patient care by appropriately incorporating a patient's family history into their evaluation. Obtaining, reviewing, and accurately interpreting the pedigree are skills geneticists and genetic counselors possess. However, with the field of ophthalmic genetics vastly growing, it is becoming essential for ophthalmologists to understand the utility of the pedigree and develop their abilities in eliciting this information. By not considering a patient's clinical history in the context of the family history, diagnoses can be missed or inaccurate. The purpose of this review is to inform ophthalmologists on the importance of the family history and highlight how the pedigree can aid in establishing an accurate genetic diagnosis. This review also provides to ophthalmologists helpful tips on eliciting and interpreting a patient's family history.

Disruption of the petal identity gene APETALA3-3 is highly correlated with loss of petals within the buttercup family (Ranunculaceae).

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Zhang, Rui; Guo, Chunce; Zhang, Wengen; Wang, Peipei; Li, Lin; Duan, Xiaoshan; Du, Qinggao; Zhao, Liang; Shan, Hongyan; Hodges, Scott A; Kramer, Elena M; Ren, Yi; Kong, Hongzhi

2013-03-26

Absence of petals, or being apetalous, is usually one of the most important features that characterizes a group of flowering plants at high taxonomic ranks (i.e., family and above). The apetalous condition, however, appears to be the result of parallel or convergent evolution with unknown genetic causes. Here we show that within the buttercup family (Ranunculaceae), apetalous genera in at least seven different lineages were all derived from petalous ancestors, indicative of parallel petal losses. We also show that independent petal losses within this family were strongly associated with decreased or eliminated expression of a single floral organ identity gene, APETALA3-3 (AP3-3), apparently owing to species-specific molecular lesions. In an apetalous mutant of Nigella, insertion of a transposable element into the second intron has led to silencing of the gene and transformation of petals into sepals. In several naturally occurring apetalous genera, such as Thalictrum, Beesia, and Enemion, the gene has either been lost altogether or disrupted by deletions in coding or regulatory regions. In Clematis, a large genus in which petalous species evolved secondarily from apetalous ones, the gene exhibits hallmarks of a pseudogene. These results suggest that, as a petal identity gene, AP3-3 has been silenced or down-regulated by different mechanisms in different evolutionary lineages. This also suggests that petal identity did not evolve many times independently across the Ranunculaceae but was lost in numerous instances. The genetic mechanisms underlying the independent petal losses, however, may be complex, with disruption of AP3-3 being either cause or effect.

Challenging Social Hierarchy: Playing with Oppositional Identities in Family Talk

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Bani-Shoraka, Helena

2008-01-01

This study examines how bilingual family members use language choice and language alternation as a local scheme of interpretation to distinguish different and often contesting social identities in interaction. It is argued that the playful creation of oppositional identities in interaction relieves the speakers from responsibility and creates a…

Genetic and family counselling for schizophrenia: Where do we ...

African Journals Online (AJOL)

Background: Recent genetic findings have led to profound changes in genetic and family counselling for schizophrenia patients and their families. Objectives: The article gives an overview of the present knowledge regarding the genetic and family counselling for schizophrenia. Method: Literature searches were performed ...

On the validity of within-nuclear-family genetic association analysis in samples of extended families.

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Bureau, Alexandre; Duchesne, Thierry

2015-12-01

Splitting extended families into their component nuclear families to apply a genetic association method designed for nuclear families is a widespread practice in familial genetic studies. Dependence among genotypes and phenotypes of nuclear families from the same extended family arises because of genetic linkage of the tested marker with a risk variant or because of familial specificity of genetic effects due to gene-environment interaction. This raises concerns about the validity of inference conducted under the assumption of independence of the nuclear families. We indeed prove theoretically that, in a conditional logistic regression analysis applicable to disease cases and their genotyped parents, the naive model-based estimator of the variance of the coefficient estimates underestimates the true variance. However, simulations with realistic effect sizes of risk variants and variation of this effect from family to family reveal that the underestimation is negligible. The simulations also show the greater efficiency of the model-based variance estimator compared to a robust empirical estimator. Our recommendation is therefore, to use the model-based estimator of variance for inference on effects of genetic variants.

The Role of Identity and Work-Family Support in Work-Family Enrichment and Its Work-Related Consequences

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Wayne, Julie Holliday; Randel, Amy E.; Stevens, Jaclyn

2006-01-01

Despite growing research on the positive connections between work and family, antecedents and consequences of work-family enrichment are understudied. Using a sample of employees from a major insurance company, we assessed the relationship of (i) individual (i.e., work and family identities), (ii) family (emotional and instrumental support), and…

Trans-National Genetic Distance and Genetic Identity of Barak Valley Hindus en Route the Journey of Mankind from Africa for ABO Gene

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Supriyo CHAKRABORTY

2011-08-01

Full Text Available The present study aimed at estimating the genetic distance and genetic identity between Barak Valley Hindus and other twenty four nations for ABO blood group gene along the route of historic journey of mankind from Africa as proposed by Stephen Oppenheimer to gain insights on the evolutionary relationship and genetic closeness of the Hindus with other nations. Barak Valley Zone, located in southern part of Assam state in North East India, has inhabited the major endogamous group, the Hindus, for several centuries. Over the last few decades, they have maintained distinct culture and life style. This study used ABO gene frequency data of these populations to estimate Neis standard genetic distance and genetic identity of population genetics between Barak Valley Hindus and other nations. The historic journey of mankind commenced from Africa about 200,000 years ago (www.bradshawfoundation.com. Genetic distance estimate ranged from 0.07 to 5.18%. Barak Valley Hindus (BVH showed relatively low genetic distance for ABO gene with the populations of Saudi Arabia (0.07%, India (0.13%, Borneo (0.40%, Russia (0.59%, Central Asia (0.60%, Siberia (0.60%, South China (0.71% and Sri Lanka (0.93% suggesting high genetic identity and possible evolutionary relationship of BVH during migration with these nations. But the BVH showed highest genetic distance with Australia (5.18% followed by Norway (4.13%, Sudan (3.89% and Sweden (3.60% indicating low genetic identity of BVH with these nations. Migration was not the key determining factor in changing the ABO gene frequency in human populations.

Trans-National Genetic Distance and Genetic Identity of Barak Valley Hindus en Route the Journey of Mankind from Africa for ABO Gene

Directory of Open Access Journals (Sweden)

Supriyo CHAKRABORTY

2011-08-01

Full Text Available The present study aimed at estimating the genetic distance and genetic identity between Barak Valley Hindus and other twenty four nations for ABO blood group gene along the route of historic journey of mankind from Africa as proposed by Stephen Oppenheimer to gain insights on the evolutionary relationship and genetic closeness of the Hindus with other nations. Barak Valley Zone, located in southern part of Assam state in North East India, has inhabited the major endogamous group, the Hindus, for several centuries. Over the last few decades, they have maintained distinct culture and life style. This study used ABO gene frequency data of these populations to estimate Nei�s standard genetic distance and genetic identity of population genetics between Barak Valley Hindus and other nations. The historic journey of mankind commenced from Africa about 200,000 years ago (www.bradshawfoundation.com. Genetic distance estimate ranged from 0.07 to 5.18%. Barak Valley Hindus (BVH showed relatively low genetic distance for ABO gene with the populations of Saudi Arabia (0.07%, India (0.13%, Borneo (0.40%, Russia (0.59%, Central Asia (0.60%, Siberia (0.60%, South China (0.71% and Sri Lanka (0.93% suggesting high genetic identity and possible evolutionary relationship of BVH during migration with these nations. But the BVH showed highest genetic distance with Australia (5.18% followed by Norway (4.13%, Sudan (3.89% and Sweden (3.60% indicating low genetic identity of BVH with these nations. Migration was not the key determining factor in changing the ABO gene frequency in human populations.

THE ROLE OF FAMILY SOCIALIZING IN BUILDING GENDER IDENTITY

OpenAIRE

Adina Magda lena IORGA

2015-01-01

Socialization is an interactive communication process that requires individual development and social influences, thus highlighting personal reception and interpretation of social messages, as well as the intensity and content dynamic of these social influences. In this context, family socialization represents the main model of the of gender interactions, of defining gender identity composition and gender expectations. Gender socialization within the family setting is very important because i...

LGBT Family Lawyers and Same-Sex Marriage Recognition: How Legal Change Shapes Professional Identity and Practice.

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Baumle, Amanda K

2018-01-10

Lawyers who practice family law for LGBT clients are key players in the tenuous and evolving legal environment surrounding same-sex marriage recognition. Building on prior research on factors shaping the professional identities of lawyers generally, and activist lawyers specifically, I examine how practice within a rapidly changing, patchwork legal environment shapes professional identity for this group of lawyers. I draw on interviews with 21 LGBT family lawyers to analyze how the unique features of LGBT family law shape their professional identities and practice, as well as their predictions about the development of the practice in a post-Obergefell world. Findings reveal that the professional identities and practice of LGBT family lawyers are shaped by uncertainty, characteristics of activist lawyering, community membership, and community service. Individual motivations and institutional forces work to generate a professional identity that is resilient and dynamic, characterized by skepticism and distrust coupled with flexibility and creativity. These features are likely to play a role in the evolution of the LGBT family lawyer professional identity post-marriage equality.

Mature Women and Higher Education: Reconstructing Identity and Family Relationships

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Webber, Louise

2015-01-01

Since Edwards' influential study on mature women students and families in the 1990s, questions have been raised about the effects of Higher Education (HE) on family lives. Edwards maintained that relationships were at risk of breakdown due to the changing identity, increased self-esteem and enhanced confidence levels of women students. Men were…

The Family as a Site for Gendered Ethnic Identity Work among Asian Indian Immigrants

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Mehrotra, Meeta; Calasanti, Toni M.

2010-01-01

Research on immigrants often points to the family as a source of support and a location for oppression. Using in-depth interviews with 38 first-generation immigrant Indians, this study adds to this literature by exploring families as sites of identity work where first-generation immigrants manage their gendered ethnic identities. Relocation into a…

Genetics and tumor genomics in familial colorectal cancer

NARCIS (Netherlands)

Middeldorp, Janneke Willemijn

2010-01-01

Colorectal cancer (CRC) is one of the most common cancers in the Western world and in about 30% hereditary factors play a role. Although several genetic factors that predispose families to CRC are known, in many families affected with CRC the underlying genetics remain elusive. The work described in

Impact of Genetic Counseling and Connexin-26 and Connexin-30 Testing on Deaf Identity and Comprehension of Genetic Test Results in a Sample of Deaf Adults: A Prospective, Longitudinal Study

Science.gov (United States)

Palmer, Christina G. S.; Boudreault, Patrick; Baldwin, Erin E.; Sinsheimer, Janet S.

2014-01-01

Using a prospective, longitudinal study design, this paper addresses the impact of genetic counseling and testing for deafness on deaf adults and the Deaf community. This study specifically evaluated the effect of genetic counseling and Connexin-26 and Connexin-30 genetic test results on participants' deaf identity and understanding of their genetic test results. Connexin-26 and Connexin-30 genetic testing was offered to participants in the context of linguistically and culturally appropriate genetic counseling. Questionnaire data collected from 209 deaf adults at four time points (baseline, immediately following pre-test genetic counseling, 1-month following genetic test result disclosure, and 6-months after result disclosure) were analyzed. Four deaf identity orientations (hearing, marginal, immersion, bicultural) were evaluated using subscales of the Deaf Identity Development Scale-Revised. We found evidence that participants understood their specific genetic test results following genetic counseling, but found no evidence of change in deaf identity based on genetic counseling or their genetic test results. This study demonstrated that culturally and linguistically appropriate genetic counseling can improve deaf clients' understanding of genetic test results, and the formation of deaf identity was not directly related to genetic counseling or Connexin-26 and Connexin-30 genetic test results. PMID:25375116

GRFT – Genetic records family tree web applet

Directory of Open Access Journals (Sweden)

Samuel ePimentel

2011-03-01

Full Text Available Current software for storing and displaying records of genetic crosses does not provide an easy way to determine the lineage of an individual. The genetic records family tree (GRFT applet processes records of genetic crosses and allows researchers to quickly visualize lineages using a family tree construct and to access other information from these records using any Internet browser. Users select from three display features: 1 a family tree view which displays a color-coded family tree for an individual, 2 a sequential list of crosses, and 3 a list of crosses matching user-defined search criteria. Each feature contains options to specify the number of records shown and the latter two contain an option to filter results by the owner of the cross. The family tree feature is interactive, displaying a popup box with genetic information when the user mouses over an individual and allowing the user to draw a new tree by clicking on any individual in the current tree. The applet is written in Javascript and reads genetic records from a tab-delimited text file on the server, so it is cross-platform, can be accessed by anyone with an Internet connection, and supports almost instantaneous generation of new trees and table lists. Researchers can use the tool with their own genetic cross records for any sexually-reproducing organism. No additional software is required and with only minor modifications to the script, researchers can add their own custom columns. GRFT's speed, versatility, and low overhead make it an effective and innovative visualization method for genetic records. A sample tool is available at http://stanford.edu/~walbot/grft-sample.html.

Exploring Race, Culture, and Family in the Identities of Mixed Heritage Students

Science.gov (United States)

Johnston-Guerrero, Marc P.; Pecero, Veronica

2016-01-01

Family plays an integral role in racial and cultural socialization, yet how mixed heritage students understand the concepts of race and culture in relation to family is unclear. This qualitative study explored the interplay of race, culture, and family in the identity constructions of 25 mixed heritage students. Findings suggest the centrality of…

Co-Constructing Family Identities through Young Children's Telephone-Mediated Narrative Exchanges

Science.gov (United States)

Cameron, Catherine Ann; Gillen, Julia

2013-01-01

This article explores telephone interactions between young children and adult family members as contributing insights to the co-construction of identities within both the nuclear and the extended family. The authors deploy methods of linguistic ethnography to enrich the scope of interpreting the data beyond textual analysis. The study's premise…

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…

Genetic and Environmental Influences on Global Family Conflict

Science.gov (United States)

Horwitz, Briana N.; Neiderhiser, Jenae M.; Ganiban, Jody M.; Spotts, Erica L.; Lichtenstein, Paul; Reiss, David

2010-01-01

This study examined genetic and environmental influences on global family conflict. The sample comprised 872 same-sex pairs of twin parents, their spouses/partners and one adolescent child per twin from the Twin and Offspring Study in Sweden (TOSS). The twins, spouses and child each reported on the degree of family conflict, and there was significant agreement among the family members’ ratings. These shared perspectives were explained by one common factor, indexing global family conflict. Genetic influences explained 36% of the variance in this common factor, suggesting that twins’ heritable characteristics contribute to family conflict, via genotype-environment correlation. Nonshared environmental effects explained the remaining 64% of this variance, indicating that twins’ unique childhood and/or current family experiences also play an important role. PMID:20438198

Children's Gender Identity in Lesbian and Heterosexual Two-Parent Families.

Science.gov (United States)

Bos, Henny; Sandfort, Theo G M

2010-01-01

This study compared gender identity, anticipated future heterosexual romantic involvement, and psychosocial adjustment of children in lesbian and heterosexual families; it was furthermore assessed whether associations between these aspects differed between family types. Data were obtained in the Netherlands from children in 63 lesbian families and 68 heterosexual families. All children were between 8 and 12 years old. Children in lesbian families felt less parental pressure to conform to gender stereotypes, were less likely to experience their own gender as superior and were more likely to be uncertain about future heterosexual romantic involvement. No differences were found on psychosocial adjustment. Gender typicality, gender contentedness and anticipated future heterosexual romantic involvement were significant predictors of psychosocial adjustment in both family types.

Contact in Adoption and Adoptive Identity Formation: The Mediating Role of Family Conversation

Science.gov (United States)

Korff, Lynn Von; Grotevant, Harold D.

2012-01-01

The present study examined adoption-related family conversation as a mediator of the association between adoptive parents’ facilitation of contact with birth relatives and adolescent adoptive identity formation. The sample consisted of 184 adoptive families. Data were collected in two waves from adoptive mothers and fathers, and adoptees (M = 15.68 years at adolescence; M = 24.95 years at emerging adulthood) using semistructured interviews and questionnaires. Structural equation models showed a good fit to sample data, and analyses supported the hypothesized mediation model. Contact with birth relatives is associated with more frequent adoption-related family conversation, which in turn is associated with the development of adoptive identity. These results highlight the importance of supporting activities such as contact that lead to adoption-related family conversation. PMID:21517175

Identity Profiles in Lesbian, Gay, and Bisexual Youth: The Role of Family Influences

OpenAIRE

Bregman, Hallie R.; Malik, Neena M.; Page, Matthew J. L.; Makynen, Emily; Lindahl, Kristin M.

2012-01-01

Sexual identity development is a central task of adolescence and young adulthood and can be especially challenging for sexual minority youth. Recent research has moved from a stage model of identity development in lesbian, gay, and bisexual (LGB) youth to examining identity in a non-linear, multidimensional manner. In addition, although families have been identified as important to youth's identity development, limited research has examined the influence of parental responses to youth's discl...

Family Matters: Familial Support and Science Identity Formation for African American Female STEM Majors

Science.gov (United States)

Parker, Ashley Dawn

2013-01-01

This research seeks to understand the experiences of African American female undergraduates in STEM. It investigates how familial factors and science identity formation characteristics influence persistence in STEM while considering the duality of African American women's status in society. This phenomenological study was designed using critical…

Comparison of Family Power Structure and Identity Style Between Delinquent and Non-Delinquent Juveniles.

Science.gov (United States)

Khodabakhshi Koolaee, Anahita; Rahmatizadeh, Masoumeh; Shaghelanilor, Hossein; Pocock, Lesley

2015-12-01

Adolescence denotes a time in which youth begins to experience dangerous behaviors like substance use and delinquency. In this study, we investigated the family power structure and identity style in delinquent and non-delinquent juveniles residing in Tehran, Iran. To accomplish the goal of the study, 80 adolescent delinquents of the correction and rehabilitation centers aged between 15 and 18 years were selected with convenience sampling method and 80 students of secondary school age between 15 and 18 years in Tehran, Iran in 2012. They answered the instrument of family power structure (Saidian, 2004) and identity style (ISI-6G: White et al. 1998). The obtained data were analyzed using the independent t-test, chi-square test, and Levene's test. The findings indicated a significant difference between delinquent and non-delinquent juveniles with regard to family power structure, its subscales (P family has a significant effect on deviant behavior and identity style in adolescents. So, family power structure can be considered in therapeutic interventions (prevention and treatment) for adolescent delinquency.

Genetics Home Reference: familial erythrocytosis

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... tumors. Another form of acquired erythrocytosis, called polycythemia vera , results from somatic (non-inherited) mutations in other ... haematol.13250. Citation on PubMed Percy MJ, Rumi E. Genetic origins and clinical phenotype of familial and ...

Identity recognition in response to different levels of genetic relatedness in commercial soya bean

Science.gov (United States)

Van Acker, Rene; Rajcan, Istvan; Swanton, Clarence J.

2017-01-01

Identity recognition systems allow plants to tailor competitive phenotypes in response to the genetic relatedness of neighbours. There is limited evidence for the existence of recognition systems in crop species and whether they operate at a level that would allow for identification of different degrees of relatedness. Here, we test the responses of commercial soya bean cultivars to neighbours of varying genetic relatedness consisting of other commercial cultivars (intraspecific), its wild progenitor Glycine soja, and another leguminous species Phaseolus vulgaris (interspecific). We found, for the first time to our knowledge, that a commercial soya bean cultivar, OAC Wallace, showed identity recognition responses to neighbours at different levels of genetic relatedness. OAC Wallace showed no response when grown with other commercial soya bean cultivars (intra-specific neighbours), showed increased allocation to leaves compared with stems with wild soya beans (highly related wild progenitor species), and increased allocation to leaves compared with stems and roots with white beans (interspecific neighbours). Wild soya bean also responded to identity recognition but these responses involved changes in biomass allocation towards stems instead of leaves suggesting that identity recognition responses are species-specific and consistent with the ecology of the species. In conclusion, elucidating identity recognition in crops may provide further knowledge into mechanisms of crop competition and the relationship between crop density and yield. PMID:28280587

Contact in adoption and adoptive identity formation: the mediating role of family conversation.

Science.gov (United States)

Von Korff, Lynn; Grotevant, Harold D

2011-06-01

The present study examined adoption-related family conversation as a mediator of the association between adoptive parents' facilitation of contact with birth relatives and adolescent adoptive identity formation. The sample consisted of 184 adoptive families. Data were collected in two waves from adoptive mothers and fathers, and adoptees (M = 15.68 years at adolescence; M = 24.95 years at emerging adulthood) using semistructured interviews and questionnaires. Structural equation models showed a good fit to sample data, and analyses supported the hypothesized mediation model. Contact with birth relatives is associated with more frequent adoption-related family conversation, which in turn is associated with the development of adoptive identity. These results highlight the importance of supporting activities such as contact that lead to adoption-related family conversation. 2011 APA, all rights reserved

[Genetic counseling and testing for families with Alzheimer's disease].

Science.gov (United States)

Kowalska, Anna

2004-01-01

With the identification of the genes responsible for autosomal dominant early-onset familial Alzheimer's disease (FAD genes), there is a considerable interest in the application of this genetic information in medical practice through genetic testing and counseling. Pathogenic mutations in the PSEN1 and PSEN2 genes encoding presenilin-1 and -2, and the APP gene encoding amyloid b precursor protein, account for 18-50% of familial EOAD cases with autosomal dominant pattern of inheritance. A clinical algorithm of genetic testing and counseling proposed for families with AD has been presented here. A screening for mutations in the APP, PSEN1, and PSEN2 genes is available to individuals with AD symptoms and at-risk children or siblings of patients with early-onset disease determined by a known mutation. In an early-onset family, a known mutation in an affected patient puts the siblings and children at a 50% risk of inheriting the same mutation. The goal of genetic testing is to identify at-risk individuals in order to facilitate early and effective treatments in the symptomatic person based on an individual's genotype and strategies to delay the onset of disease in the presymptomatic mutation carriers. However, there are several arguments against the use of genetic testing both presymptomatically (unpredictable psychological consequences of information about a genetic defect for family members) and as a diagnostic tool for the differential diagnosis of dementia in general practice (a risk of errors in an interpretation of mutation penetrance and its secondary effects on family members, especially for novel mutations; the possibility of coexistence of another form of dementia at the presence of a mutation). Currently, APOE genotyping for presymptomatic individuals with a family history of late-onset disease is not recommended. The APOE4 allele may only confer greater risk for disease, but its presence is not conclusive for the development of AD.

Genetic Programming for Medicinal Plant Family Identification System

Directory of Open Access Journals (Sweden)

Indra Laksmana

2014-11-01

Full Text Available Information about medicinal plants that is available in text documents is generally quite easy to access, however, one needs some efforts to use it. This research was aimed at utilizing crucial information taken from a text document to identify the family of several species of medicinal plants using a heuristic approach, i.e. genetic programming. Each of the species has its unique features. The genetic program puts the characteristics or special features of each family into a tree form. There are a number of processes involved in the investigated method, i.e. data acquisition, booleanization, grouping of training and test data, evaluation, and analysis. The genetic program uses a training process to select the best individual, initializes a generate-rule process to create several individuals and then executes a fitness evaluation. The next procedure is a genetic operation process, which consists of tournament selection to choose the best individual based on a fitness value, the crossover operation and the mutation operation. These operations have the purpose of complementing the individual. The best individual acquired is the expected solution, which is a rule for classifying medicinal plants. This process produced three rules, one for each plant family, displaying a feature structure that distinguishes each of the families from each other. The genetic program then used these rules to identify the medicinal plants, achieving an average accuracy of 86.47%.

Friends' cultural orientation as a mediator between familial ethnic socialization and ethnic identity among Mexican-origin adolescent girls.

Science.gov (United States)

Kim, Peter Seung Yoo; Bámaca-Colbert, Mayra Y; Jian, Ni; Gonzales-Backen, Melinda A

2017-04-01

Research has indicated that ethnic identity protects ethnic minority youth on various indicators of adjustment, but there is a dearth of research pertaining to contextual influences on ethnic identity. Our study investigated how familial ethnic socialization and best friend's orientation toward Mexican culture influenced ethnic identity among Mexican-origin girls. Using a 3-wave longitudinal sample of 175 Mexican-origin adolescent girls (Mage = 13.75), the current study examined best friend's Mexican cultural orientation as a mediator between familial ethnic socialization and ethnic identity with structural equation modeling. Multigroup analyses were conducted to examine potential age and generational status differences within the model. Analyses revealed that familial ethnic socialization promoted ethnic identity exploration and resolution 3.5 years later and that this effect was mediated by best friend's Mexican cultural orientation. No significant differences were found across age or generational status groups. Our study highlights the contribution of peer context to ethnic identity and its role in the process by which familial ethnic socialization influences ethnic identity during adolescence. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

Learning, memory and exploratory similarities in genetically identical cloned dogs.

Science.gov (United States)

Shin, Chi Won; Kim, Geon A; Park, Won Jun; Park, Kwan Yong; Jeon, Jeong Min; Oh, Hyun Ju; Kim, Min Jung; Lee, Byeong Chun

2016-12-30

Somatic cell nuclear transfer allows generation of genetically identical animals using donor cells derived from animals with particular traits. To date, few studies have investigated whether or not these cloned dogs will show identical behavior patterns. To address this question, learning, memory and exploratory patterns were examined using six cloned dogs with identical nuclear genomes. The variance of total incorrect choice number in the Y-maze test among cloned dogs was significantly lower than that of the control dogs. There was also a significant decrease in variance in the level of exploratory activity in the open fields test compared to age-matched control dogs. These results indicate that cloned dogs show similar cognitive and exploratory patterns, suggesting that these behavioral phenotypes are related to the genotypes of the individuals.

Depression and genetic causal attribution of epilepsy in multiplex epilepsy families.

Science.gov (United States)

Sorge, Shawn T; Hesdorffer, Dale C; Phelan, Jo C; Winawer, Melodie R; Shostak, Sara; Goldsmith, Jeff; Chung, Wendy K; Ottman, Ruth

2016-10-01

Rapid advances in genetic research and increased use of genetic testing have increased the emphasis on genetic causes of epilepsy in patient encounters. Research in other disorders suggests that genetic causal attributions can influence patients' psychological responses and coping strategies, but little is known about how epilepsy patients and their relatives will respond to genetic attributions of epilepsy. We investigated the possibility that among members of families containing multiple individuals with epilepsy, depression, the most frequent psychiatric comorbidity in the epilepsies, might be related to the perception that epilepsy has a genetic cause. A self-administered survey was completed by 417 individuals in 104 families averaging 4 individuals with epilepsy per family. Current depression was measured with the Patient Health Questionnaire. Genetic causal attribution was assessed by three questions addressing the following: perceived likelihood of having an epilepsy-related mutation, perceived role of genetics in causing epilepsy in the family, and (in individuals with epilepsy) perceived influence of genetics in causing the individual's epilepsy. Relatives without epilepsy were asked about their perceived chance of developing epilepsy in the future, compared with the average person. Prevalence of current depression was 14.8% in 182 individuals with epilepsy, 6.5% in 184 biologic relatives without epilepsy, and 3.9% in 51 individuals married into the families. Among individuals with epilepsy, depression was unrelated to genetic attribution. Among biologic relatives without epilepsy, however, prevalence of depression increased with increasing perceived chance of having an epilepsy-related mutation (p = 0.02). This association was not mediated by perceived future epilepsy risk among relatives without epilepsy. Depression is associated with perceived likelihood of carrying an epilepsy-related mutation among individuals without epilepsy in families containing

Unravelling fears of genetic discrimination: an exploratory study of Dutch HCM families in an era of genetic non-discrimination acts.

Science.gov (United States)

Geelen, Els; Horstman, Klasien; Marcelis, Carlo L M; Doevendans, Pieter A; Van Hoyweghen, Ine

2012-10-01

Since the 1990s, many countries in Europe and the United States have enacted genetic non-discrimination legislation to prevent people from deferring genetic tests for fear that insurers or employers would discriminate against them based on that information. Although evidence for genetic discrimination exists, little is known about the origins and backgrounds of fears of discrimination and how it affects decisions for uptake of genetic testing. The aim of this article is to gain a better understanding of these fears and its possible impact on the uptake of testing by studying the case of hypertrophic cardiomyopathy (HCM). In a qualitative study, we followed six Dutch extended families involved in genetic testing for HCM for three-and-a-half years. Semi-structured interviews were conducted with 57 members of these families. Based on the narratives of the families, we suggest that fears of discrimination have to be situated in the broader social and life-course context of family and kin. We describe the processes in which families developed meaningful interpretations of genetic discrimination and how these interpretations affected family members' decisions to undergo genetic testing. Our findings show that fears of genetic discrimination do not so much stem from the opportunity of genetic testing but much more from earlier experiences of discrimination of diseased family members. These results help identify the possible limitations of genetic non-discrimination regulations and provide direction to clinicians supporting their clients as they confront issues of genetic testing and genetic discrimination.

Accuracy of family history of cancer : clinical genetic implications

NARCIS (Netherlands)

Sijmons, RH; Boonstra, AE; Reefhuis, J; Hordijk-Hos, JM; de Walle, HEK; Oosterwijk, JC; Cornel, MC

Family medical history is the cornerstone of clinical genetic diagnosis and management in cases of familial cancer. The soundness of medical decisions can be compromised if reports by the family on affected relatives are inaccurate. Although very time consuming, family medical histories are

Assumption-free estimation of heritability from genome-wide identity-by-descent sharing between full siblings.

Directory of Open Access Journals (Sweden)

2006-03-01

Full Text Available The study of continuously varying, quantitative traits is important in evolutionary biology, agriculture, and medicine. Variation in such traits is attributable to many, possibly interacting, genes whose expression may be sensitive to the environment, which makes their dissection into underlying causative factors difficult. An important population parameter for quantitative traits is heritability, the proportion of total variance that is due to genetic factors. Response to artificial and natural selection and the degree of resemblance between relatives are all a function of this parameter. Following the classic paper by R. A. Fisher in 1918, the estimation of additive and dominance genetic variance and heritability in populations is based upon the expected proportion of genes shared between different types of relatives, and explicit, often controversial and untestable models of genetic and non-genetic causes of family resemblance. With genome-wide coverage of genetic markers it is now possible to estimate such parameters solely within families using the actual degree of identity-by-descent sharing between relatives. Using genome scans on 4,401 quasi-independent sib pairs of which 3,375 pairs had phenotypes, we estimated the heritability of height from empirical genome-wide identity-by-descent sharing, which varied from 0.374 to 0.617 (mean 0.498, standard deviation 0.036. The variance in identity-by-descent sharing per chromosome and per genome was consistent with theory. The maximum likelihood estimate of the heritability for height was 0.80 with no evidence for non-genetic causes of sib resemblance, consistent with results from independent twin and family studies but using an entirely separate source of information. Our application shows that it is feasible to estimate genetic variance solely from within-family segregation and provides an independent validation of previously untestable assumptions. Given sufficient data, our new paradigm will

Molecular genetic analysis of consanguineous families with primary ...

Indian Academy of Sciences (India)

MUZAMMIL AHMAD KHAN

3Institute of Human Genetics, Medical University of Graz, Graz 8010, Austria. 4Department of Cell and ... Materials and methods. Family recruitment and sample collection ..... 2014 A Drosophila genetic resource of mutats to study mechanism ...

Nature versus nurture: identical twins and bariatric surgery.

Science.gov (United States)

Hagedorn, Judith C; Morton, John M

2007-06-01

Genetics and environment both play a role in weight maintenance. Twin studies may help clarify the influence of nature vs nurture in weight loss. We present the largest U.S. experience with monozygotic (MZ) twins undergoing bariatric surgery. We retrospectively reviewed the charts of four sets of MZ twins who underwent Roux-en-Y gastric bypass (RYGBP) surgery and laparoscopic adjustable gastric band (LAGB) placement at three different institutions. BMI and co-morbidities were examined pre- and postoperatively, and laboratory values were recorded. All four sets of twins are female, live together, and have similar professions. Twin cohort 1 had near identical weight loss patterns after open RYGBP surgery in 1996 (preop 146/142 kg; 2 years 82/82; and 10 years 108/107). Twin cohort 1 also both underwent cholecystectomies within the first year postoperatively. Twin cohort 2 underwent laparoscopic RYGBP surgery and also required cholecystectomies in the first postoperative year. Cohort 2 also experienced nearly identical weight loss at 1 year (36.7% vs 37.0% BMI loss). Twin cohort 3 underwent LAGB placement with two different surgeons with differing amounts of weight loss at 6 months (6.5% vs 15.7% BMI loss). Finally, twin cohort 4 underwent laparoscopic RYGBP with 2-year BMI loss of 39% vs 34%. In twin cohort 4, the twin who lost less weight lived apart from her twin and extended family, and her weight loss was less than the twin living with her family. Two sets of MZ twins had identical responses to bariatric surgery. The other two sets of identical twins had differential weight loss results, possibly due to differences in surgical approach and social support. While genetics do exert a strong influence on weight loss and maintenance, this case series demonstrates the potential effect of social support and postoperative management upon postoperative weight loss in the presence of identical genetics.

Family power structure and identity styles in delinquent and nondelinquent Adolescents: A Comparative study in Tehran

Directory of Open Access Journals (Sweden)

Anahita Khodabakhshi Koolaee

2016-08-01

Full Text Available Normal 0 false false false EN-US X-NONE AR-SA Background: The present study was conducted to investigate the Family Power Structure (FPS and identity style in delinquent and non-delinquent juveniles in Tehran.Methods: To accomplish the goal of the study, 80 adolescent delinquents of the Correction and Rehabilitation Centers, aged between 15 and 18, were selected following cluster sampling procedure as well as 80 students of secondary school, aged between 15 and 18, in Tehran in 2014. To obtain data, FPS (Saidian, 2004 and Identity Style Inventory (ISI-6G: White et al, 1998 instruments were used. Data was analyzed between these two groups using independent t test, and Chi square test.Results: The findings indicated that there is a significant difference between delinquent and non-delinquent juveniles in FPS and its subscales (P<0.001 and identity style (P<0.001. Moreover, the informational identity style was related to lower levels of delinquency. In addition, a diffuse-evident identity style was found to be related to the delinquency.Conclusion: These findings emphasize that an inappropriate decision-making process pattern in a family has a significant effect on deviant behavior and identity style in adolescents. So, family counselors must pay attention to FPS in the therapeutic interventions (prevention and treatment for adolescent delinquency.Keywords: Parenting; Family; Juvenile Delinquency; Adolescent

Communication of genetic information to families with inherited rhythm disorders.

Science.gov (United States)

Burns, Charlotte; James, Cynthia; Ingles, Jodie

2017-11-23

Given the dynamic nature of the electrical activity of the heart and ongoing challenges in the diagnostics of inherited heart rhythm disorders, genetic information can be a vital aspect of family management. Communication of genetic information is complex, and the responsibility to convey this information to the family lies with the proband. Current practice falls short, requiring additional support from the clinician and multidisciplinary team. Communication is a 2-part iterative process, reliant on both the understanding of the probands and their ability to effectively communicate with relatives. With the surge of high-throughput genetic testing, results generated are increasingly complex, making the task of communication more challenging. Here we discuss 3 key issues. First, the probabilistic nature of genetic test results means uncertainty is inherent to the practice. Second, secondary findings may arise. Third, personal preferences, values, and family dynamics also come into play and must be acknowledged when considering how best to support effective communication. Here we provide insight into the challenges and provide practical advice for clinicians to support effective family communication. These strategies include acknowledging and managing genetic uncertainty, genetic counseling and informed consent, and consideration of personal and familial barriers to effective communication. We will explore the potential for developing resources to assist clinicians in providing patients with sufficient knowledge and support to communicate complex information to their at-risk relatives. Specialized multidisciplinary clinics remain the best equipped to manage patients and families with inherited heart rhythm disorders given the need for a high level of information and support. Copyright © 2017 Heart Rhythm Society. All rights reserved.

Interactive genetic counseling role-play: a novel educational strategy for family physicians.

Science.gov (United States)

Blaine, Sean M; Carroll, June C; Rideout, Andrea L; Glendon, Gord; Meschino, Wendy; Shuman, Cheryl; Telner, Deanna; Van Iderstine, Natasha; Permaul, Joanne

2008-04-01

Family physicians (FPs) are increasingly involved in delivering genetic services. Familiarization with aspects of genetic counseling may enable FPs to help patients make informed choices. Exploration of interactive role-play as a means to raise FPs' awareness of the process and content of genetic counseling. FPs attending two large Canadian family medicine conferences in 2005 were eligible -- 93 participated. FPs discussed a case during a one-on-one session with a genetic counselor. Evaluation involved pre and post intervention questionnaires FPs' baseline genetic knowledge was self-rated as uniformly poor. Baseline confidence was highest in eliciting family history and providing psychosocial support and lowest in discussing risks/benefits of genetic testing and counseling process. Post-intervention, 80% of FPs had better appreciation of family history and 97% indicated this was an effective learning experience. Role-play with FPs is effective in raising awareness of the process and content of genetic counseling and may be applied to other health disciplines.

Family matters: Familial support and science identity formation for African American female STEM majors

Science.gov (United States)

Parker, Ashley Dawn

This research seeks to understand the experiences of African American female undergraduates in STEM. It investigates how familial factors and science identity formation characteristics influence persistence in STEM while considering the duality of African American women's status in society. This phenomenological study was designed using critical race feminism as the theoretical framework to answer the following questions: 1) What role does family play in the experiences of African American women undergraduate STEM majors who attended two universities in the UNC system? 2) What factors impact the formation of science identity for African American women undergraduate STEM majors who attended two universities in the UNC system? Purposive sampling was used to select the participants for this study. The researcher conducted in-depth interviews with 10 African American female undergraduate STEM major from a predominantly White and a historically Black institution with the state of North Carolina public university system. Findings suggest that African American families and science identity formation influence the STEM experiences of the African American females interviewed in this study. The following five themes emerged from the findings: (1) independence, (2) support, (3) pressure to succeed, (4) adaptations, and (5) race and gender. This study contributes to the literature on African American female students in STEM higher education. The findings of this study produced knowledge regarding policies and practices that can lead to greater academic success and persistence of African American females in higher education in general, and STEM majors in particular. Colleges and universities may benefit from the findings of this study in a way that allows them to develop and sustain programs and policies that attend to the particular concerns and needs of African American women on their campuses. Finally, this research informs both current and future African American female

Pathways and barriers to genetic testing and screening: Molecular genetics meets the high-risk family. Final report

Energy Technology Data Exchange (ETDEWEB)

Duster, T.

1998-11-01

The proliferation of genetic screening and testing is requiring increasing numbers of Americans to integrate genetic knowledge and interventions into their family life and personal experience. This study examines the social processes that occur as families at risk for two of the most common autosomal recessive diseases, sickle cell disease (SC) and cystic fibrosis (CF), encounter genetic testing. Each of these diseases is found primarily in a different ethnic/racial group (CF in Americans of North European descent and SC in Americans of West African descent). This has permitted them to have a certain additional lens on the role of culture in integrating genetic testing into family life and reproductive planning. A third type of genetic disorder, the thalassemias was added to the sample in order to extent the comparative frame and to include other ethnic and racial groups.

An audit of clinical service examining the uptake of genetic testing by at-risk family members.

Science.gov (United States)

Forrest, Laura; Delatycki, Martin; Curnow, Lisette; Gen Couns, M; Skene, Loane; Aitken, Maryanne

2012-01-01

The aim of this study was to investigate the uptake of genetic testing by at-risk family members for four genetic conditions: chromosomal translocations, fragile X syndrome, Huntington disease, and spinal muscular atrophy. A clinical audit was undertaken using genetics files from Genetic Health Services Victoria. Data were extracted from the files regarding the number of at-risk family members and the proportion tested. Information was also collected about whether discussion of at-risk family members and family communication during the genetic consultation was recorded. The proportion of at-risk family members who had genetic testing ranged from 11% to 18%. First-degree family members were most frequently tested and the proportion of testing decreased by degree of relatedness to the proband. Smaller families were significantly more likely to have genetic testing for all conditions except Huntington disease. Female at-risk family members were significantly more likely to have testing for fragile X syndrome. The majority of at-risk family members do not have genetic testing. Family communication is likely to influence the uptake of genetic testing by at-risk family members and therefore it is important that families are supported while communicating to ensure that at-risk family members are able to make informed decisions about genetic testing.

Support Seeking or Familial Obligation: An Investigation of Motives for Disclosing Genetic Test Results.

Science.gov (United States)

Greenberg, Marisa; Smith, Rachel A

2016-01-01

Genetic test results reveal not only personal information about a person's likelihood of certain medical conditions but also information about the person's genetic relatives. Given the familial nature of genetic information, one's obligation to protect family members may be a motive for disclosing genetic test results, but this claim has not been methodically tested. Existing models of disclosure decision making presume self-interested motives, such as seeking social support, instead of other-interested motives, like familial obligation. This study investigated young adults' (N = 173) motives to share a genetic-based health condition, alpha-1 antitrypsin deficiency, after reading a hypothetical vignette. Results show that social support and familial obligation were both reported as motives for disclosure. In fact, some participants reported familial obligation as their primary motivator for disclosure. Finally, stronger familial obligation predicted increased likelihood of disclosing hypothetical genetic test results. Implications of these results were discussed in reference to theories of disclosure decision-making models and the practice of genetic disclosures.

"American" or "Multiethnic"? Family Ethnic Identity among Transracial Adoptive Families, Ethnic-Racial Socialization, and Children's Self-Perception

Science.gov (United States)

Pinderhughes, Ellen E.; Zhang, Xian; Agerbak, Susanne

2015-01-01

Drawing on a model of ethnic-racial socialization (E-RS; Pinderhughes, 2013), this study examined hypothesized relations among parents' role variables (family ethnic identity and acknowledgment of cultural and racial differences), cultural socialization (CS) behaviors, and children's self-perceptions (ethnic self-label and feelings about…

Genetic and familial environmental effects on suicide attempts

DEFF Research Database (Denmark)

Petersen, Liselotte; Sørensen, Thorkild I A; Andersen, Per Kragh

2014-01-01

OBJECTIVES: Genetic factors have been found to influence the risk of suicide. It is less clear if this also applies to attempted suicide. We have investigated genetic and familial environmental factors by studying the occurrence of suicide attempts in biological and adoptive siblings of adoptees...... who attempted suicide compared to siblings of adoptees with no suicide attempts. METHOD: We used a random sample of 1933 adoptees from the Danish Adoption Register, a register of non-familial adoptions of Danish children, i.e. the adoptive parents are biologically unrelated to the adoptee. Analyses...... admission of siblings the increased rate was statistically significant (IRR=3.88; 95% CI-1.42-10.6). LIMITATIONS: Information on attempted suicide and psychiatric history was limited to that which involved hospitalisation. CONCLUSIONS: Genetic factors influence risk of suicide attempts....

Transactional Pathways of Transgender Identity Development in Transgender and Gender Nonconforming Youth and Caregivers from the Trans Youth Family Study

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Katz-Wise, Sabra L.; Budge, Stephanie L.; Fugate, Ellen; Flanagan, Kaleigh; Touloumtzis, Currie; Rood, Brian; Perez-Brumer, Amaya; Leibowitz, Scott

2017-01-01

Background A growing body of research has examined transgender identity development, but no studies have investigated developmental pathways as a transactional process between youth and caregivers, incorporating perspectives from multiple family members. The aim of this study was to conceptualize pathways of transgender identity development using narratives from both transgender and gender nonconforming (TGN) youth and their cisgender (non-transgender) caregivers. Methods The sample included 16 families, with 16 TGN youth, ages 7–18 years, and 29 cisgender caregivers (N = 45 family members). TGN youth represented multiple gender identities, including trans boy (n = 9), trans girl (n = 5), gender fluid boy (n = 1), and girlish boy (n = 1). Caregivers included mothers (n = 17), fathers (n = 11), and one grandmother. Participants were recruited from LGBTQ community organizations and support networks for families with transgender youth in the Midwest, Northeast, and South regions of the United States. Each family member completed a one-time in-person semi-structured qualitative interview that included questions about transgender identity development. Results Analyses revealed seven overarching themes of transgender identity development, which were organized into a conceptual model: Trans identity development, sociocultural influences/societal discourse, biological influences, family adjustment/impact, stigma/cisnormativity, support/resources, and gender affirmation/actualization. Conclusions Findings underscore the importance of assessing developmental processes among TGN youth as transactional, impacting both youth and their caregivers. PMID:29527139

Moderation of genetic factors by parental divorce in adolescents' evaluations of family functioning and subjective wellbeing.

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van der Aa, Niels; Boomsma, Dorret I; Rebollo-Mesa, Irene; Hudziak, James J; Bartels, Meike

2010-04-01

Adolescents' evaluations of family functioning may have a significant impact on their subjective well-being and adjustment. The aim of the study was to investigate the degree to which genetic and environmental influences affect variation in evaluations of general family functioning, family conflict, and quality of life and the overlap between them. We assessed whether genetic and environmental influences are moderated by parental divorce by analyzing self-report data from 6,773 adolescent twins and their non-twin siblings. Genetic, shared, and nonshared environmental influences accounted for variation in general family functioning and family conflict, with genetic influences being relatively more important in girls than boys in general family functioning. Genetic and nonshared environmental influences accounted for variation in quality of life, with genetic influences being relatively more important in girls. Evidence was found for interaction between genetic factors and parental divorce: genetic influence on general family functioning was larger in participants from divorced families. The overlap between general family functioning and quality of life, and family conflict and quality of life was accounted for the largest part by genetic effects, with nonshared environmental effects accounting for the remaining part. By examining the data from monozygotic twins, we found evidence for interaction between genotype and nonshared, non-measured, environmental influences on evaluations of general family functioning, family conflict, and quality of life.

Genetic anticipation in Swedish Lynch syndrome families.

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von Salomé, Jenny; Boonstra, Philip S; Karimi, Masoud; Silander, Gustav; Stenmark-Askmalm, Marie; Gebre-Medhin, Samuel; Aravidis, Christos; Nilbert, Mef; Lindblom, Annika; Lagerstedt-Robinson, Kristina

2017-10-01

Among hereditary colorectal cancer predisposing syndromes, Lynch syndrome (LS) caused by mutations in DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2 is the most common. Patients with LS have an increased risk of early onset colon and endometrial cancer, but also other tumors that generally have an earlier onset compared to the general population. However, age at first primary cancer varies within families and genetic anticipation, i.e. decreasing age at onset in successive generations, has been suggested in LS. Anticipation is a well-known phenomenon in e.g neurodegenerative diseases and several reports have studied anticipation in heritable cancer. The purpose of this study is to determine whether anticipation can be shown in a nationwide cohort of Swedish LS families referred to the regional departments of clinical genetics in Lund, Stockholm, Linköping, Uppsala and Umeå between the years 1990-2013. We analyzed a homogenous group of mutation carriers, utilizing information from both affected and non-affected family members. In total, 239 families with a mismatch repair gene mutation (96 MLH1 families, 90 MSH2 families including one family with an EPCAM-MSH2 deletion, 39 MSH6 families, 12 PMS2 families, and 2 MLH1+PMS2 families) comprising 1028 at-risk carriers were identified among the Swedish LS families, of which 1003 mutation carriers had available follow-up information and could be included in the study. Using a normal random effects model (NREM) we estimate a 2.1 year decrease in age of diagnosis per generation. An alternative analysis using a mixed-effects Cox proportional hazards model (COX-R) estimates a hazard ratio of exp(0.171), or about 1.19, for age of diagnosis between consecutive generations. LS-associated gene-specific anticipation effects are evident for MSH2 (2.6 years/generation for NREM and hazard ratio of 1.33 for COX-R) and PMS2 (7.3 years/generation and hazard ratio of 1.86). The estimated anticipation effects for MLH1 and MSH6 are

Genetic heterogeneity in Pakistani microcephaly families

DEFF Research Database (Denmark)

Sajid Hussain, M; Bakhtiar, Syeda Marriam; Farooq, Muhammad

2013-01-01

Autosomal recessive primary microcephaly (MCPH) is caused by mutations in at least eight different genes involved either in cell division or DNA repair. Most mutations are identified in consanguine families from Pakistan, Iran and India. To further assess their genetic heterogeneity and mutational...... mutation. One third of the families were linked to ASPM followed by WDR62 confirming previous data. We identified three novel ASPM mutations, four novel WDR62 mutations, one novel MCPH1 mutation and two novel CEP152 mutations. CEP152 mutations have not been described before in the Pakistani population....

Childhood Familial Victimization: An Exploration of Gender and Sexual Identity Using the Scale of Negative Family Interactions.

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Martinez, Katherine; McDonald, Courtney

2017-11-01

Familial violence poses a serious public health concern and has therefore received a considerable amount of attention from academics and practitioners alike. Research within this field has found that parent-to-parent and parent-to-child violence often occur simultaneously and are especially prevalent within households that suffer from social and environmental stressors. Sibling violence and its relationship to these other forms of familial violence has received considerably less attention, largely related to the widely held belief that sibling violence is natural, especially for boys. Using the Scale of Negative Family Interactions (SNFI), parent-to-child and sibling-to-sibling violence is investigated. Specifically, the relationship between participants' gender and sexual identities and their reports of familial violence are explored to better understand participants' gendered and sexed experiences. Data suggest that gender and sexual minorities may have a unique experience of familial violence, although further research is needed in this area.

FAMILY IDENTITY PECULIARITIES OF WOMEN WHO HAVE MADE THE DECISION TO TERMINATE PREGNANCY AND ARE IN A STATE OF LEGAL OR CIVIL MARRIAGE

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Natalya Vladimirovna Lukyanchenko

2013-08-01

Full Text Available In this article we reflect on the relevance of the family identity research of the women who have made the decision to terminate their pregnancy.  Family identity is defined as a specific form of personal and group identity that includes three aspects of family and self -perception as a family member: structural, emotional-evaluative and cognitional. Evaluation research of the women in a state of legal and civil marriage is given.  General and specific peculiarities of their family identity are emphasized. General peculiarities are interpersonal relationships perception in the family as distanced and family image rigidity. Various active-passive positions inside a married couple, common for women in legal or civil marriages, are attributed to specific peculiarities. DOI: http://dx.doi.org/10.12731/2218-7405-2013-7-5

Contact in Adoption and Adoptive Identity Formation: The Mediating Role of Family Conversation

OpenAIRE

Korff, Lynn Von; Grotevant, Harold D.

2011-01-01

The present study examined adoption-related family conversation as a mediator of the association between adoptive parents’ facilitation of contact with birth relatives and adolescent adoptive identity formation. The sample consisted of 184 adoptive families. Data were collected in two waves from adoptive mothers and fathers, and adoptees (M = 15.68 years at adolescence; M = 24.95 years at emerging adulthood) using semistructured interviews and questionnaires. Structural equation models showed...

Familial resemblance of borderline personality disorder features: genetic or cultural transmission?

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Marijn A Distel

Full Text Available Borderline personality disorder is a severe personality disorder for which genetic research has been limited to family studies and classical twin studies. These studies indicate that genetic effects explain 35 to 45% of the variance in borderline personality disorder and borderline personality features. However, effects of non-additive (dominance genetic factors, non-random mating and cultural transmission have generally not been explored. In the present study an extended twin-family design was applied to self-report data of twins (N = 5,017 and their siblings (N = 1,266, parents (N = 3,064 and spouses (N = 939 from 4,015 families, to estimate the effects of additive and non-additive genetic and environmental factors, cultural transmission and non-random mating on individual differences in borderline personality features. Results showed that resemblance among biological relatives could completely be attributed to genetic effects. Variation in borderline personality features was explained by additive genetic (21%; 95% CI 17-26% and dominant genetic (24%; 95% CI 17-31% factors. Environmental influences (55%; 95% CI 51-60% explained the remaining variance. Significant resemblance between spouses was observed, which was best explained by phenotypic assortative mating, but it had only a small effect on the genetic variance (1% of the total variance. There was no effect of cultural transmission from parents to offspring.

Genetic liability, prenatal health, stress and family environment: risk factors in the Harvard Adolescent Family High Risk for schizophrenia study.

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Walder, Deborah J; Faraone, Stephen V; Glatt, Stephen J; Tsuang, Ming T; Seidman, Larry J

2014-08-01

The familial ("genetic") high-risk (FHR) paradigm enables assessment of individuals at risk for schizophrenia based on a positive family history of schizophrenia in first-degree, biological relatives. This strategy presumes genetic transmission of abnormal traits given high heritability of the illness. It is plausible, however, that adverse environmental factors are also transmitted in these families. Few studies have evaluated both biological and environmental factors within a FHR study of adolescents. We conceptualize four precursors to psychosis pathogenesis: two biological (genetic predisposition, prenatal health issues (PHIs)) and two environmental (family environment, stressful life events (SLEs)). Participants assessed between 1998 and 2007 (ages 13-25) included 40 (20F/20M) adolescents at FHR for schizophrenia (FHRs) and 55 (31F/24M) community controls. 'Genetic load' indexed number of affected family members relative to pedigree size. PHI was significantly greater among FHRs, and family cohesion and expressiveness were less (and family conflict was higher) among FHRs; however, groups did not significantly differ in SLE indices. Among FHRs, genetic liability was significantly associated with PHI and family expressiveness. Prenatal and family environmental disruptions are elevated in families with a first-degree relative with schizophrenia. Findings support our proposed 'polygenic neurodevelopmental diathesis-stress model' whereby psychosis susceptibility (and resilience) involves the independent and synergistic confluence of (temporally-sensitive) biological and environmental factors across development. Recognition of biological and social environmental influences across critical developmental periods points to key issues relevant for enhanced identification of psychosis susceptibility, facilitation of more precise models of illness risk, and development of novel prevention strategies. Copyright © 2014 Elsevier B.V. All rights reserved.

Cross-Cultural Comparison of the Effects of Optimism, Intrinsic Motivation, and Family Relations on Vocational Identity

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Shin, Yun-Jeong; Kelly, Kevin R.

2013-01-01

This study explored the effects of optimism, intrinsic motivation, and family relations on vocational identity in college students in the United States and South Korea. The results yielded support for the hypothesized multivariate model. Across both cultures, optimism was an important contributing factor to vocational identity, and intrinsic…

Genetic anticipation in Swedish Lynch syndrome families.

Directory of Open Access Journals (Sweden)

Jenny von Salomé

2017-10-01

Full Text Available Among hereditary colorectal cancer predisposing syndromes, Lynch syndrome (LS caused by mutations in DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2 is the most common. Patients with LS have an increased risk of early onset colon and endometrial cancer, but also other tumors that generally have an earlier onset compared to the general population. However, age at first primary cancer varies within families and genetic anticipation, i.e. decreasing age at onset in successive generations, has been suggested in LS. Anticipation is a well-known phenomenon in e.g neurodegenerative diseases and several reports have studied anticipation in heritable cancer. The purpose of this study is to determine whether anticipation can be shown in a nationwide cohort of Swedish LS families referred to the regional departments of clinical genetics in Lund, Stockholm, Linköping, Uppsala and Umeå between the years 1990-2013. We analyzed a homogenous group of mutation carriers, utilizing information from both affected and non-affected family members. In total, 239 families with a mismatch repair gene mutation (96 MLH1 families, 90 MSH2 families including one family with an EPCAM-MSH2 deletion, 39 MSH6 families, 12 PMS2 families, and 2 MLH1+PMS2 families comprising 1028 at-risk carriers were identified among the Swedish LS families, of which 1003 mutation carriers had available follow-up information and could be included in the study. Using a normal random effects model (NREM we estimate a 2.1 year decrease in age of diagnosis per generation. An alternative analysis using a mixed-effects Cox proportional hazards model (COX-R estimates a hazard ratio of exp(0.171, or about 1.19, for age of diagnosis between consecutive generations. LS-associated gene-specific anticipation effects are evident for MSH2 (2.6 years/generation for NREM and hazard ratio of 1.33 for COX-R and PMS2 (7.3 years/generation and hazard ratio of 1.86. The estimated anticipation effects for MLH1

Family Conflict Interacts with Genetic Liability in Predicting Childhood and Adolescent Depression

Science.gov (United States)

Rice, Frances; Harold, Gordon T.; Shelton, Katherine H.; Thapar, Anita

2006-01-01

Objective: To test for gene-environment interaction with depressive symptoms and family conflict. Specifically, to first examine whether the influence of family conflict in predicting depressive symptoms is increased in individuals at genetic risk of depression. Second, to test whether the genetic component of variance in depressive symptoms…

Asymmetry in family history implicates nonstandard genetic mechanisms: application to the genetics of breast cancer.

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Clarice R Weinberg

2014-03-01

Full Text Available Genome-wide association studies typically target inherited autosomal variants, but less studied genetic mechanisms can play a role in complex disease. Sex-linked variants aside, three genetic phenomena can induce differential risk in maternal versus paternal lineages of affected individuals: 1. maternal effects, reflecting the maternal genome's influence on prenatal development; 2. mitochondrial variants, which are inherited maternally; 3. autosomal genes, whose effects depend on parent of origin. We algebraically show that small asymmetries in family histories of affected individuals may reflect much larger genetic risks acting via those mechanisms. We apply these ideas to a study of sisters of women with breast cancer. Among 5,091 distinct families of women reporting that exactly one grandmother had breast cancer, risk was skewed toward maternal grandmothers (p<0.0001, especially if the granddaughter was diagnosed between age 45 and 54. Maternal genetic effects, mitochondrial variants, or variant genes with parent-of-origin effects may influence risk of perimenopausal breast cancer.

Assessing individual risk for AMD with genetic counseling, family history, and genetic testing.

Science.gov (United States)

Cascella, R; Strafella, C; Longo, G; Manzo, L; Ragazzo, M; De Felici, C; Gambardella, S; Marsella, L T; Novelli, G; Borgiani, P; Sangiuolo, F; Cusumano, A; Ricci, F; Giardina, E

2018-02-01

PurposeThe goal was to develop a simple model for predicting the individual risk profile for age-related macular degeneration (AMD) on the basis of genetic information, disease family history, and smoking habits.Patients and methodsThe study enrolled 151 AMD patients following specific clinical and environmental inclusion criteria: age >55 years, positive family history for AMD, presence of at least one first-degree relative affected by AMD, and smoking habits. All of the samples were genotyped for rs1061170 (CFH) and rs10490924 (ARMS2) with a TaqMan assay, using a 7500 Fast Real Time PCR device. Statistical analysis was subsequently employed to calculate the real individual risk (OR) based on the genetic data (ORgn), family history (ORf), and smoking habits (ORsm).Results and conclusionThe combination of ORgn, ORf, and ORsm allowed the calculation of the Ort that represented the realistic individual risk for developing AMD. In this report, we present a computational model for the estimation of the individual risk for AMD. Moreover, we show that the average distribution of risk alleles in the general population and the knowledge of parents' genotype can be decisive to assess the real disease risk. In this contest, genetic counseling is crucial to provide the patients with an understanding of their individual risk and the availability for preventive actions.

Genetic genealogy: the Woodson family's experience.

Science.gov (United States)

Williams, Sloan R

2005-06-01

In 1998, Foster and colleagues published the results of a genetic study intended to test whether Thomas Jefferson could have fathered any of Sally Hemings' children. They found that the Jefferson Y chromosome haplotype matched that of a descendant of Hemings' youngest child, but not that of the descendants of the eldest son, Thomas Woodson. The Woodson descendants were shocked by the study's finding, which disagreed with their family oral history. They were suspicious of the study conclusions because of the methods used in recruiting participants for the study and the manner in which they learned of the results. The Woodsons' experience as participants in one of the first examples of genetic genealogy illustrates several issues that both geneticists and amateur genetic genealogists will face in studies of this kind. Misperceptions about the relationship between biology and race, and group genetics in general, can make the interpretation of genetic data difficult. Continuing collaborations between the media and the scientific community will help the public to better understand the risks as well as the benefits of genetic genealogy. Researchers must decide prior to beginning their research what role the human subjects will play in the study and when they will be notified of the study's conclusions. Amateur genetic genealogists should anticipate unexpected outcomes, such as the identification of nonpaternity, to minimize any harmful effects to study participants. Although modern genetic methods provide a powerful new tool for genealogical study, they cannot resolve all genealogical issues, as this study shows, and can involve unanticipated risks to the participants.

Different concepts and models of information for family-relevant genetic findings: comparison and ethical analysis.

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Lenk, Christian; Frommeld, Debora

2015-08-01

Genetic predispositions often concern not only individual persons, but also other family members. Advances in the development of genetic tests lead to a growing number of genetic diagnoses in medical practice and to an increasing importance of genetic counseling. In the present article, a number of ethical foundations and preconditions for this issue are discussed. Four different models for the handling of genetic information are presented and analyzed including a discussion of practical implications. The different models' ranges of content reach from a strictly autonomous position over self-governed arrangements in the practice of genetic counseling up to the involvement of official bodies and committees. The different models show a number of elements which seem to be very useful for the handling of genetic data in families from an ethical perspective. In contrast, the limitations of the standard medical attempt regarding confidentiality and personal autonomy in the context of genetic information in the family are described. Finally, recommendations for further ethical research and the development of genetic counseling in families are given.

The genetic landscape of familial congenital hydrocephalus.

Science.gov (United States)

Shaheen, Ranad; Sebai, Mohammed Adeeb; Patel, Nisha; Ewida, Nour; Kurdi, Wesam; Altweijri, Ikhlass; Sogaty, Sameera; Almardawi, Elham; Seidahmed, Mohammed Zain; Alnemri, Abdulrahman; Madirevula, Sateesh; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Al-Sheddi, Tarfa; Alomar, Rana; Alobeid, Eman; Sallout, Bahauddin; AlBaqawi, Badi; AlAali, Wajeih; Ajaji, Nouf; Lesmana, Harry; Hopkin, Robert J; Dupuis, Lucie; Mendoza-Londono, Roberto; Al Rukban, Hadeel; Yoon, Grace; Faqeih, Eissa; Alkuraya, Fowzan S

2017-06-01

Congenital hydrocephalus is an important birth defect, the genetics of which remains incompletely understood. To date, only 4 genes are known to cause Mendelian diseases in which congenital hydrocephalus is the main or sole clinical feature, 2 X-linked (L1CAM and AP1S2) and 2 autosomal recessive (CCDC88C and MPDZ). In this study, we aimed to determine the genetic etiology of familial congenital hydrocephalus with the assumption that these cases represent Mendelian forms of the disease. Exome sequencing combined, where applicable, with positional mapping. We identified a likely causal mutation in the majority of these families (21 of 27, 78%), spanning 16 genes, none of which is X-linked. Ciliopathies and dystroglycanopathies were the most common etiologies of congenital hydrocephalus in our cohort (19% and 26%, respectively). In 1 family with 4 affected members, we identified a homozygous truncating variant in EML1, which we propose as a novel cause of congenital hydrocephalus in addition to its suggested role in cortical malformation. Similarly, we show that recessive mutations in WDR81, previously linked to cerebellar ataxia, mental retardation, and disequilibrium syndrome 2, cause severe congenital hydrocephalus. Furthermore, we confirm the previously reported candidacy of MPDZ by presenting a phenotypic spectrum of congenital hydrocephalus associated with 5 recessive alleles. Our study highlights the importance of recessive mutations in familial congenital hydrocephalus and expands the locus heterogeneity of this condition. Ann Neurol 2017;81:890-897. © 2017 American Neurological Association.

The Ties That Bind: Materiality, Identity, and the Life Course in the "Things" Families Keep.

Science.gov (United States)

Gloyn, Liz; Crewe, Vicky; King, Laura; Woodham, Anna

2018-04-01

Using an interdisciplinary research methodology across three archaeological and historical case studies, this article explores "family archives." Four themes illustrate how objects held in family archives, curation practices, and intergenerational narratives reinforce a family's sense of itself: people-object interactions, gender, socialization and identity formation, and the "life course." These themes provide a framework for professional archivists to assist communities and individuals working with their own family archives. We argue that the family archive, broadly defined, encourages a more egalitarian approach to history. We suggest a multiperiod analysis draws attention to historical forms of knowledge and meaning-making practices over time.

Associations between Familial Rates of Psychiatric Disorders and De Novo Genetic Mutations in Autism

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Kyleen Luhrs

2017-01-01

Full Text Available The purpose of this study was to examine the confluence of genetic and familial risk factors in children with Autism Spectrum Disorder (ASD with distinct de novo genetic events. We hypothesized that gene-disrupting mutations would be associated with reduced rates of familial psychiatric disorders relative to structural mutations. Participants included families of children with ASD in four groups: de novo duplication copy number variations (DUP, n=62, de novo deletion copy number variations (DEL, n=74, de novo likely gene-disrupting mutations (LGDM, n=267, and children without a known genetic etiology (NON, n=2111. Familial rates of psychiatric disorders were calculated from semistructured interviews. Results indicated overall increased rates of psychiatric disorders in DUP families compared to DEL and LGDM families, specific to paternal psychiatric histories, and particularly evident for depressive disorders. Higher rates of depressive disorders in maternal psychiatric histories were observed overall compared to paternal histories and higher rates of anxiety disorders were observed in paternal histories for LGDM families compared to DUP families. These findings support the notion of an additive contribution of genetic etiology and familial factors are associated with ASD risk and highlight critical need for continued work targeting these relationships.

An examination of biracial college youths' family ethnic socialization, ethnic identity, and adjustment: do self-identification labels and university context matter?

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Brittian, Aerika S; Umaña-Taylor, Adriana J; Derlan, Chelsea L

2013-04-01

This study examined family ethnic socialization, ethnic identity, and adjustment among Latino/White and Asian/White biracial college students (n = 507), with special attention to how ethnic self-identification and university ethnic composition informed the ethnic identity process. Findings indicated that family ethnic socialization was positively related to participants' ethnic identity exploration and resolution, but not ethnic identity affirmation. Furthermore, ethnic identity resolution and affirmation were associated with higher self-acceptance and self-esteem, and lower depressive symptoms. Importantly, university ethnic composition moderated the association between ethnic identity resolution and anxiety, such that resolution promoted adjustment in contexts that were relatively more ethnically diverse. University ethnic composition also moderated the association between ethnic identity affirmation and both self-esteem and self-acceptance, such that affirmation was associated with better adjustment but only in schools that were less ethnically diverse.

An Examination of Biracial College Youths’ Family Ethnic Socialization, Ethnic Identity, and Adjustment: Do Self-Identification Labels and University Context Matter?

Science.gov (United States)

Brittian, Aerika S.; Umaña-Taylor, Adriana J.; Derlan, Chelsea L.

2014-01-01

This study examined family ethnic socialization, ethnic identity, and adjustment among Latino/White and Asian/White biracial college students (n = 507), with special attention to how ethnic self-identification and university ethnic composition informed the ethnic identity process. Findings indicated that family ethnic socialization was positively related to participants’ ethnic identity exploration and resolution, but not ethnic identity affirmation. Furthermore, ethnic identity resolution and affirmation were associated with higher self-acceptance and self-esteem, and lower depressive symptoms. Importantly, university ethnic composition moderated the association between ethnic identity resolution and anxiety, such that resolution promoted adjustment in contexts that were relatively more ethnically diverse. University ethnic composition also moderated the association between ethnic identity affirmation and both self-esteem and self-acceptance, such that affirmation was associated with better adjustment but only in schools that were less ethnically diverse. PMID:22905967

Identity, community and care in online accounts of hereditary colorectal cancer syndrome.

Science.gov (United States)

Ross, Emily; Broer, Tineke; Kerr, Anne; Cunningham-Burley, Sarah

2018-01-01

Sociological literature has explored how shifts in the point at which individuals may be designated as diseased impact upon experiences of ill health. Research has shown that experiences of being genetically "at risk" are shaped by and shape familial relations, coping strategies, and new forms of biosociality. Less is known about how living with genetic risk is negotiated in the everyday and over time, and the wider forms of identity, communities and care this involves. This article explores these arrangements drawing on online bloggers' accounts of Familial Adenomatous Polyposis (FAP). We show how accounts of genetic risk co-exist with more palpable experiences of FAP in everyday life, notably the consequences of prophylactic surgeries. We consider how the act of blogging represents but also constitutes everyday experiences of hereditary cancer syndrome as simultaneously ordinary and exceptional, and reflect on the implications of our analysis for understanding experiences of genetic cancer risk.

Gender, Ethnicity, Ethnic Identity, and Language Choices of Malaysian Youths: the Case of the Family Domain

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Mehdi Granhemat

2017-04-01

Full Text Available This study examined the relationships between gender, ethnicity, ethnic identity, and language choices of Malaysian multilingual youths in the family domain of language use. Five hundred undergraduate students who belonged to different Malaysian ethnic groups were selected as participants of the study. The participant aged between 17 to 25 years old. To select the participants, a random proportional stratified sampling strategy was developed. A self administered questionnaire survey comprising three sections was used for gathering information about participants’ demographic profiles, their language choices in the family domain, and the concepts of their ethnic identity. To make analyses about the most used languages of the participants and the relationships between variables, SPSS software was run. Descriptive statistics was used to describe the participants’ profiles as well as participants’ used languages in the family domain of language use. Inferential statistics was used to examine relationships between variables. According to results of the study, in the family domain five codes were mostly used by the participants. These five codes were respectively, the Malay language, mixed use of Malay and English, Chinese, Mixed use of Chinese and English, and English. Furthermore, in the family domain, gender did not exert any influence on the choice of language of the multilingual participants, but ethnicity was found to be a determinant of language choice. Ethnic identity was found to influence the language choices of the Malays as well, but it did not affect the Chinese and Indian participants’ language choices in this domain of language use.

Identity by descent fine mapping of familial adult myoclonus epilepsy (FAME) to 2p11.2-2q11.2.

Science.gov (United States)

Henden, Lyndal; Freytag, Saskia; Afawi, Zaid; Baldassari, Sara; Berkovic, Samuel F; Bisulli, Francesca; Canafoglia, Laura; Casari, Giorgio; Crompton, Douglas Ewan; Depienne, Christel; Gecz, Jozef; Guerrini, Renzo; Helbig, Ingo; Hirsch, Edouard; Keren, Boris; Klein, Karl Martin; Labauge, Pierre; LeGuern, Eric; Licchetta, Laura; Mei, Davide; Nava, Caroline; Pippucci, Tommaso; Rudolf, Gabrielle; Scheffer, Ingrid Eileen; Striano, Pasquale; Tinuper, Paolo; Zara, Federico; Corbett, Mark; Bahlo, Melanie

2016-10-01

Familial adult myoclonus epilepsy (FAME) is a rare autosomal dominant disorder characterized by adult onset, involuntary muscle jerks, cortical myoclonus and occasional seizures. FAME is genetically heterogeneous with more than 70 families reported worldwide and five potential disease loci. The efforts to identify potential causal variants have been unsuccessful in all but three families. To date, linkage analysis has been the main approach to find and narrow FAME critical regions. We propose an alternative method, pedigree free identity-by-descent (IBD) mapping, that infers regions of the genome between individuals that have been inherited from a common ancestor. IBD mapping provides an alternative to linkage analysis in the presence of allelic and locus heterogeneity by detecting clusters of individuals who share a common allele. Succeeding IBD mapping, gene prioritization based on gene co-expression analysis can be used to identify the most promising candidate genes. We performed an IBD analysis using high-density single nucleotide polymorphism (SNP) array data followed by gene prioritization on a FAME cohort of ten European families and one Australian/New Zealander family; eight of which had known disease loci. By identifying IBD regions common to multiple families, we were able to narrow the FAME2 locus to a 9.78 megabase interval within 2p11.2-q11.2. We provide additional evidence of a founder effect in four Italian families and allelic heterogeneity with at least four distinct founders responsible for FAME at the FAME2 locus. In addition, we suggest candidate disease genes using gene prioritization based on gene co-expression analysis.

Clinical and genetic aspects of familial isolated pituitary adenomas

Directory of Open Access Journals (Sweden)

Vladimir Vasilev

2012-01-01

Full Text Available Pituitary adenomas represent a group of functionally diverse neoplasms with relatively high prevalence in the general population. Most occur sporadically, but inherited genetic predisposing factors are increasingly recognized. Familial isolated pituitary adenoma is a recently defined clinical entity, and is characterized by hereditary presentation of pituitary adenomas in the absence of clinical and genetic features of syndromic disease such as multiple endocrine neoplasia type 1 and Carney complex. Familial isolated pituitary adenoma is inherited in an autosomal dominant manner and accounted for approximately 2-3% of pituitary tumors in some series. Germline mutations in the aryl-hydrocarbon interacting protein gene are identified in around 25% of familial isolated pituitary adenoma kindreds. Pituitary adenomas with mutations of the aryl-hydrocarbon interacting protein gene are predominantly somatotropinomas and prolactinomas, but non-functioning adenomas, Cushing disease, and thyrotropinoma may also occur. These tumors may present as macroadenomas in young patients and are often relatively difficult to control. Furthermore, recent evidence indicates that aryl-hydrocarbon interacting protein gene mutations occur in >10% of patients with sporadic macroadenomas that occur before 30 years of age, and in >20% of children with macroadenomas. Genetic screening for aryl-hydrocarbon interacting protein gene mutations is warranted in selected high-risk patients who may benefit from early recognition and follow-up.

Personality disorder traits, family environment, and alcohol misuse: a multivariate behavioural genetic analysis.

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Jang, K L; Vernon, P A; Livesley, W J

2000-06-01

This study seeks to estimate the extent to which a common genetic and environmental basis is shared between (i) traits delineating specific aspects of antisocial personality and alcohol misuse, and (ii) childhood family environments, traits delineating broad domains of personality pathology and alcohol misuse. Postal survey data were collected from monozygotic and dizygotic twin pairs. Twin pairs were recruited from Vancouver, British Columbia and London, Ontario, Canada using newspaper advertisements, media stories and twin clubs. Data obtained from 324 monozygotic and 335 dizygotic twin pairs were used to estimate the extent to which traits delineating specific antisocial personality traits and alcohol misuse shared a common genetic and environmental aetiology. Data from 81 monozygotic and 74 dizygotic twin pairs were used to estimate the degree to which traits delineating personality pathology, childhood family environment and alcohol misuse shared a common aetiology. Current alcohol misuse and personality pathology were measured using scales contained in the self-report Dimensional Assessment of Personality Pathology. Perceptions of childhood family environment were measured using the self-report Family Environment Scale. Multivariate genetic analyses showed that a subset of traits delineating components of antisocial personality (i.e. grandiosity, attention-seeking, failure to adopt social norms, interpersonal violence and juvenile antisocial behaviours) are influenced by genetic factors in common to alcohol misuse. Genetically based perceptions of childhood family environment had little relationship with alcohol misuse. Heritable personality factors that influence the perception of childhood family environment play only a small role in the liability to alcohol misuse. Instead, liability to alcohol misuse is related to genetic factors common a specific subset of antisocial personality traits describing conduct problems, narcissistic and stimulus

Ethical issues in identifying and recruiting participants for familial genetic research.

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Beskow, Laura M; Botkin, Jeffrey R; Daly, Mary; Juengst, Eric T; Lehmann, Lisa Soleymani; Merz, Jon F; Pentz, Rebecca; Press, Nancy A; Ross, Lainie Friedman; Sugarman, Jeremy; Susswein, Lisa R; Terry, Sharon F; Austin, Melissa A; Burke, Wylie

2004-11-01

Family-based research is essential to understanding the genetic and environmental etiology of human disease. The success of family-based research often depends on investigators' ability to identify, recruit, and achieve a high participation rate among eligible family members. However, recruitment of family members raises ethical concerns due to the tension between protecting participants' privacy and promoting research quality, and guidelines for these activities are not well established. The Cancer Genetics Network Bioethics Committee assembled a multidisciplinary group to explore the scientific and ethical issues that arise in the process of family-based recruitment. The group used a literature review as well as expert opinion to develop recommendations about appropriate approaches to identifying, contacting, and recruiting family members. We conclude that there is no single correct approach, but recommend a balanced approach that takes into account the nature of the particular study as well as its recruitment goals. Recruitment of family members should be viewed as part of the research protocol and should require appropriate informed consent of the already-enrolled participant. Investigators should inform prospective participants why they are being contacted, how information about them was obtained, and what will happen to that information if they decide not to participate. The recruitment process should also be sensitive to the fact that some individuals from families at increased genetic risk will have no prior knowledge of their risk status. These recommendations are put forward to promote further discussion about the advantages and disadvantages of various approaches to family-based recruitment. They suggest a framework for considering alternative recruitment strategies and their implications, as well as highlight areas in need of further empirical research. (c) 2004 Wiley-Liss, Inc.

Novel genetic variants in miR-191 gene and familial ovarian cancer

International Nuclear Information System (INIS)

Shen, Jie; DiCioccio, Richard; Odunsi, Kunle; Lele, Shashikant B; Zhao, Hua

2010-01-01

Half of the familial aggregation of ovarian cancer can't be explained by any known risk genes, suggesting the existence of other genetic risk factors. Some of these unknown factors may not be traditional protein encoding genes. MicroRNA (miRNA) plays a critical role in tumorigenesis, but it is still unknown if variants in miRNA genes lead to predisposition to cancer. Considering the fact that miRNA regulates a number of tumor suppressor genes (TSGs) and oncogenes, genetic variations in miRNA genes could affect the levels of expression of TSGs or oncogenes and, thereby, cancer risk. To test this hypothesis in familial ovarian cancer, we screened for genetic variants in thirty selected miRNA genes, which are predicted to regulate key ovarian cancer genes and are reported to be misexpressed in ovarian tumor tissues, in eighty-three patients with familial ovarian cancer. All of the patients are non-carriers of any known BRCA1/2 or mismatch repair (MMR) gene mutations. Seven novel genetic variants were observed in four primary or precursor miRNA genes. Among them, three rare variants were found in the precursor or primary precursor of the miR-191 gene. In functional assays, the one variant located in the precursor of miR-191 resulted in conformational changes in the predicted secondary structures, and consequently altered the expression of mature miR-191. In further analysis, we found that this particular variant exists in five family members who had ovarian cancer. Our findings suggest that there are novel genetic variants in miRNA genes, and those certain genetic variants in miRNA genes can affect the expression of mature miRNAs and, consequently, might alter the regulation of TSGs or oncogenes. Additionally, the variant might be potentially associated with the development of familial ovarian cancer

Genetic and environmental influences on female sexual orientation, childhood gender typicality and adult gender identity.

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Andrea Burri

Full Text Available BACKGROUND: Human sexual orientation is influenced by genetic and non-shared environmental factors as are two important psychological correlates--childhood gender typicality (CGT and adult gender identity (AGI. However, researchers have been unable to resolve the genetic and non-genetic components that contribute to the covariation between these traits, particularly in women. METHODOLOGY/PRINCIPAL FINDINGS: Here we performed a multivariate genetic analysis in a large sample of British female twins (N = 4,426 who completed a questionnaire assessing sexual attraction, CGT and AGI. Univariate genetic models indicated modest genetic influences on sexual attraction (25%, AGI (11% and CGT (31%. For the multivariate analyses, a common pathway model best fitted the data. CONCLUSIONS/SIGNIFICANCE: This indicated that a single latent variable influenced by a genetic component and common non-shared environmental component explained the association between the three traits but there was substantial measurement error. These findings highlight common developmental factors affecting differences in sexual orientation.

Frequency and clinical genetics of familial dilated cardiomyopathy in ...

African Journals Online (AJOL)

Frequency and clinical genetics of familial dilated cardiomyopathy in Cape Town: Implications for the evaluation of patients with unexplained cardiomyopathy. NBA Ntusi, A Wonkam, G Shaboodien, M Badri, BM Mayosi ...

Genetic Identity in Genebanks: Application of the SolCAP 12K SNP Array in Fingerprinting and Diversity Analysis in the Global In Trust Potato Collection.

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Ellis, David; Chavez, Oswaldo; Coombs, Joseph J; Soto, Julian V; Gomez, Rene; Douches, David S; Panta, Ana; Silvestre, Rocio; Anglin, Noelle Lynette

2018-05-24

Breeders rely on genetic integrity of material from genebanks, however, mislabeling and errors in original data can occur. Paired samples of original material and their in vitro counterparts from 250 diverse potato landrace accessions from the International Potato Center (CIP), were fingerprinted using the Infinium 12K V2 Potato Array to confirm genetic identity and evaluate genetic diversity. Diploid, triploid, and tetraploid accessions were included representing seven cultivated potato taxa (Hawkes, 1990). Fingerprints between mother field plants and in vitro clones, were used to evaluate identity, relatedness, and ancestry. Clones of the same accession grouped together, however eleven (4.4%) accessions were mismatches genetically. SNP genotypes were used to construct a phylogeny to evaluate inter- and intraspecific relationships and population structure. Data suggests that the triploids evaluated are genetically similar. STRUCTURE analysis identified several putative hybrids and suggests six populations with significant gene flow between. This study provides a model for genetic identity of plant genetic resources collections as mistakes in conservation of these collections and in genebanks is a reality and confirmed identity is critical for breeders and other users of these collections, as well as for quality management programs and to provide insights into the diversity of the accessions evaluated.

Realizing the value of Family Business Identity as Corporate Brand Element — A Research Model

OpenAIRE

Blombäck, Anna

2011-01-01

Recent publications among family business scholars reveal an emerging interest to investigate questions related to marketing communications and brand management. An underlying question for this research is whether, how, and under what circumstances the portrayal of a family business identity influences corporate brand equity. Research in brand management clarifies the importance of learning how consumer behavior is influenced by brand leveraging beyond the core product or company. Such knowle...

Longitudinal Associations between Gender and Ethnic-Racial Identity Felt Pressure from Family and Peers and Self-Esteem among African American and Latino/a Youth.

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Aoyagi, Keiko; Santos, Carlos E; Updegraff, Kimberly A

2018-01-01

Gender identity felt pressure is negatively associated with adjustment indices, including self-esteem, among children and early adolescents, and both gender and ethnic-racial identity felt pressure are negatively associated with self-esteem among young adults. This study explored the longitudinal associations between gender identity and ethnic-racial identity felt pressure from family and peers to behave in either gender or race/ethnic-accordant ways, and self-esteem among a sample of 750 (49.2% female) African American (n = 194) and Latino/a youth (n = 556) (M = 12.10 years, SD = .97 years). For African Americans, the results revealed significant negative longitudinal associations between (a) ethnic-racial identity felt pressure from family at Time 1 and self-esteem at Time 2 and (b) ethnic-racial identity felt pressure from peers at Time 1 and self-esteem at Time 2, controlling for self-esteem at Time 1. These associations were not found among Latinos/as, nor were associations found between gender identity felt pressure from peers or family and self-esteem. The findings are discussed by drawing on the gender identity and ethnic-racial identity literatures.

Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families

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Wang, Li; Qin, Litao; Li, Tao; Liu, Hongjian; Ma, Lingcao; Li, Wan; Wu, Dong; Wang, Hongdan; Guo, Qiannan; Guo, Liangjie; Liao, Shixiu

2018-01-01

Waardenburg syndrome (WS) is an auditory-pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. The present study aimed to investigate the underlying molecular pathology and provide a method of prenatal diagnosis of WS in Chinese families. A total of 11 patients with WS from five unrelated Chinese families were enrolled. A thorough clinical examination was performed on all participants. Furthermore, patients with WS underwent screening for mutations in the following genes: Paired box 3 (PAX3), melanogenesis associated transcription factor (MITF), SRY-box 10, snail family transcriptional repressor 2 and endothelin receptor type B using polymerase chain reaction sequencing. Array-based comparative genomic hybridization was used for specific patients whose sequence results were normal. Following identification of the genotype of the probands and their parents, prenatal genetic diagnosis was performed for family 01 and 05. According to the diagnostic criteria for WS, five cases were diagnosed as WS1, while the other six cases were WS2. Genetic analysis revealed three mutations, including a nonsense mutation PAX3 c.583C>T in family 01, a splice-site mutation MITF c.909G>A in family 03 and an in-frame deletion MITF c.649_651delGAA in family 05. To the best of the authors' knowledge the mutations (c.583C>T in PAX3 and c.909G>A in MITF) were reported for the first time in Chinese people. Mutations in the gene of interest were not identified in family 02 and 04. The prenatal genetic testing of the two fetuses was carried out and demonstrated that the two babies were normal. The results of the present study expanded the range of known genetic mutations in China. Identification of genetic mutations in these families provided an efficient way to understand the causes of WS and improved genetic counseling. PMID:29115496

[Prenatal genetic diagnosis for two Chinese families affected with oculocutaneous albinism type Ⅱ].

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Hu, Hao; Wang, Hua; Jia, Zhengjun; Xie, Qiong

2014-08-01

To perform genotyping analysis and subsequent prenatal genetic diagnosis for two families affected with oculocutaneous albinism (OCA). Direct sequencing of TYR and P genes was performed in two albino probands. Family members were screened for corresponding mutant alleles. Prenatal genetic diagnoses were performed at early pregnancy by chorionic villus sampling (CVS) at mid-pregnancy through amniocentesis. No mutations were detected in the TYR gene in either probands, whereas 4 heterozygous mutations of the P gene were found, namely c.406C>T, c.535A>G, c.808-2A>G and c.2180T>C, among which c.535A>G and c.808-2A>G were novel. In the first round prenatal genetic testing, both fetuses were found to have the same genotypes as the probands. Both families had decided to terminate the pregnancy after genetic counseling. In the second round testing, neither of the fetuses was found to be affected by genotyping. The pregnancies continued and two healthy fetuses were born. OCA can be classified by genotyping, with which reliable prenatal diagnosis and feasible genetic counseling may be provided.

Gagueira desenvolvimental persistente familial: perspectivas genéticas Familial persistent developmental stuttering: genetic perspectives

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Breila Vilela de Oliveira

2012-12-01

Full Text Available A gagueira é uma desordem da comunicação oral que tem uma característica multidimensional. A predisposição biológica no desenvolvimento da gagueira ainda não é bem compreendida, mas contribuições genéticas para esta predisposição são reforçadas tanto por referências à agregação familial da gagueira, quanto à gagueira familial, que têm aparecido na literatura há mais de 70 anos. Assim, procuramos estabelecer uma revisão quanto aos prováveis fatores genéticos envolvidos com a manifestação da gagueira desenvolvimental persistente familial. A identificação de genes relacionados à gagueira, bem como de alterações em suas estruturas (por exemplo, mutações, contribuem significativamente para sua compreensão. O modelo exato de transmissão da herança genética para a gagueira ainda não está claramente definida e, provavelmente pode ser diferente entre diferentes famílias e populações. As análises genômicas demonstram, concomitantemente, a relevância dos componentes genéticos envolvidos e sua complexidade, sugerindo assim tratar-se de uma doença poligênica, na qual diversos genes de efeitos variados podem estar envolvidos com o aumento da susceptibilidade de ocorrência da gagueira. O clínico deverá estar alerta ao fato de que uma criança com histórico familial positivo para gagueira poderá ter uma forte tendência a desenvolver o distúrbio de forma crônica. É importante que o clínico esteja atento, de modo a fornecer às famílias orientações precisas sobre o distúrbio. As avaliações objetivas e os tratamentos controlados têm um papel muito importante para o domínio da evolução do distúrbio.Stuttering is a disorder of oral communication that has a multidimensional character. The biological predisposition in the development of stuttering is still not well understood, but genetic contributions to this predisposition are enhanced by both references to the familial aggregation of stuttering

Familial versus mass selection in small populations

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Couvet Denis

2003-07-01

Full Text Available Abstract We used diffusion approximations and a Markov-chain approach to investigate the consequences of familial selection on the viability of small populations both in the short and in the long term. The outcome of familial selection was compared to the case of a random mating population under mass selection. In small populations, the higher effective size, associated with familial selection, resulted in higher fitness for slightly deleterious and/or highly recessive alleles. Conversely, because familial selection leads to a lower rate of directional selection, a lower fitness was observed for more detrimental genes that are not highly recessive, and with high population sizes. However, in the long term, genetic load was almost identical for both mass and familial selection for populations of up to 200 individuals. In terms of mean time to extinction, familial selection did not have any negative effect at least for small populations (N ≤ 50. Overall, familial selection could be proposed for use in management programs of small populations since it increases genetic variability and short-term viability without impairing the overall persistence times.

Genetic analysis of a consanguineous Pakistani family with Leber ...

Indian Academy of Sciences (India)

2014-08-01

Aug 1, 2014 ... RESEARCH NOTE. Genetic analysis of a consanguineous Pakistani family with Leber .... representation of the deleterious mutation at genomic and protein level. ... In the last couple of years, numerous mutations in. GUCY2D ...

Gendered Cultural Identities: The Influences of Family and Privacy Boundaries, Subjective Norms, and Stigma Beliefs on Family Health History Communication.

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Hong, Soo Jung

2017-05-25

This study investigates the effects of cultural norms on family health history (FHH) communication in the American, Chinese, and Korean cultures. More particularly, this study focuses on perceived family boundaries, subjective norms, stigma beliefs, and privacy boundaries, including age and gender, that affect people's FHH communication. For data analyses, hierarchical multiple regression and logistic regression methods were employed. The results indicate that participants' subjective norms, stigma beliefs, and perceived family/privacy boundaries were positively associated with current FHH communication. Age- and gender-related privacy boundaries were negatively related to perceived privacy boundaries, however. Finally, the results show that gendered cultural identities have three-way interaction effects on two associations: (1) between perceived family boundaries and perceived privacy boundaries and (2) between perceived privacy boundaries and current FHH communication. The findings have meaningful implications for future cross-cultural studies on the roles of family systems, subjective norms, and stigma beliefs in FHH communication.

Genetic heterogeneity of within-family variance of body weight in Atlantic salmon (Salmo salar).

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Sonesson, Anna K; Odegård, Jørgen; Rönnegård, Lars

2013-10-17

Canalization is defined as the stability of a genotype against minor variations in both environment and genetics. Genetic variation in degree of canalization causes heterogeneity of within-family variance. The aims of this study are twofold: (1) quantify genetic heterogeneity of (within-family) residual variance in Atlantic salmon and (2) test whether the observed heterogeneity of (within-family) residual variance can be explained by simple scaling effects. Analysis of body weight in Atlantic salmon using a double hierarchical generalized linear model (DHGLM) revealed substantial heterogeneity of within-family variance. The 95% prediction interval for within-family variance ranged from ~0.4 to 1.2 kg2, implying that the within-family variance of the most extreme high families is expected to be approximately three times larger than the extreme low families. For cross-sectional data, DHGLM with an animal mean sub-model resulted in severe bias, while a corresponding sire-dam model was appropriate. Heterogeneity of variance was not sensitive to Box-Cox transformations of phenotypes, which implies that heterogeneity of variance exists beyond what would be expected from simple scaling effects. Substantial heterogeneity of within-family variance was found for body weight in Atlantic salmon. A tendency towards higher variance with higher means (scaling effects) was observed, but heterogeneity of within-family variance existed beyond what could be explained by simple scaling effects. For cross-sectional data, using the animal mean sub-model in the DHGLM resulted in biased estimates of variance components, which differed substantially both from a standard linear mean animal model and a sire-dam DHGLM model. Although genetic differences in canalization were observed, selection for increased canalization is difficult, because there is limited individual information for the variance sub-model, especially when based on cross-sectional data. Furthermore, potential macro

Exploring the role of classroom-based learning in professional identity formation of family practice residents using the experiences, trajectories, and reifications framework.

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Chen, Luke Y C; Hubinette, Maria M

2017-08-01

Classroom-based learning such as academic half day has undervalued social aspects. We sought to explore its role in the professional identity development of family medicine residents. In this case study, residents and faculty from four training sites in the University of British Columbia Department of Family Practice were interviewed. The "experiences, trajectories, and reifications (ETR) framework" was used as a sensitizing tool for modified inductive (thematic) analysis of the transcripts. Classroom-based learning provided a different context for residents' interpretation of their clinical experiences, characterized as a "home base" for rotating urban residents, and a connection to a larger academic community for residents in rural training sites. Both these aspects were important in creating a positive trajectory of professional identity formation. Teaching directed at the learning needs of family physicians, and participation of family practice faculty as teachers and role models was a precipitation of a curriculum "centered in family medicine." Interactions between family medicine residents and faculty in the classroom facilitated the necessary engagements to reify a shared understanding of the discipline of family practice. Classroom-based learning has substantial impact on professional identity formation at an individual and collective level.

Políticas de identidade: perfil de DNA e a identidade genético-criminal Identity politics: DNA profile and the genetic-criminal identity

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Helena Machado

2010-01-01

Full Text Available O DNA é visto por muitos como a “verdadeira” base da identidade humana, por se tratar de uma estrutura biológica, em princípio, única em cada indivíduo. Esta noção de “unicidade”, pilar fundamental da investigação criminal e da genética forense, tem alimentado políticas de identidade da parte dos Estados modernos pela classificação e armazenamento de informação sobre “criminosos”. Neste artigo analisam-se estratégias médico-legais e burocrático-estatais de produção da identidade “genético-criminal” relacionadas com a criação, em Portugal, de uma base de dados forense de perfis de DNA. Discutem-se os impactos desta política de identidade na gestão, categorização e vigilância de indivíduos classificados como criminosos.DNA is seen by many as the “true” basis of human identity, insofar as it is a biological structure that is, in principle, unique in each individual. This notion of “uniqueness”, a fundamental pillar of criminal investigation and forensic genetics, has fostered identity politics by modern states through the classification and storage of information about “criminals”. This article explores the alignment of science and state bureaucracy for producing the “genetic-criminal” identity in the context of the Portuguese forensic DNA database for forensic purposes. We discuss the impacts of this sort of identity politics for the management, categorization, and surveillance of individuals classified as criminals.

The protective influence of family connectedness, ethnic identity, and ethnic engagement for New Zealand Ma̅ori adolescents.

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Stuart, Jaimee; Jose, Paul E

2014-06-01

The present study examined the associations among family connectedness, ethnic identity, and ethnic engagement on changes in well-being over time for the understudied population of Ma̅ori (indigenous New Zealand) youth. Data were collected as part of a longitudinal study of youth connectedness in New Zealand using self-report measures at 3 measurement occasions separated by 1 year each. Participants in the current study were 431 self-identified Ma̅ori (ages 10-15 years at Time 1). As expected, the variables of family connectedness, ethnic identity, and well-being were all positively related to each other. Results of a latent growth curve model showed that, following normative trends for adolescents of this age, well-being diminished over time for Ma̅ori youth; however, high levels of family connectedness were found to mitigate this general decline in well-being over time. Furthermore, in a longitudinal path analysis, ethnic engagement was found to exert a positive indirect effect on residualized Time 3 well-being through Time 2 ethnic identity. These findings indicate that the quality of family relationships and affiliation with one's ethnic group are important predictors of positive adjustment for Ma̅ori youth over time. These results are discussed in the context of positive youth development for ethnic minority and indigenous youth. PsycINFO Database Record (c) 2014 APA, all rights reserved.

The Complexity of Family Reactions to Identity among Homeless and College Lesbian, Gay, Bisexual, Transgender, and Queer Young Adults.

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Schmitz, Rachel M; Tyler, Kimberly A

2018-05-01

Familial responses to lesbian, gay, bisexual, transgender, and queer (LGBTQ) young people's identities range on a spectrum from rejection to acceptance and these reactions strongly impact family relationships and young adult well-being. Less is known, however, about how family members' reactions may differ based on young people's contexts of socioeconomic status. Through a qualitative, life course analysis of in-depth interview data from 46 LGBTQ college students and LGBTQ homeless young adults, our study highlights the diverse, contextual nuances of young people's "linked lives" within their families. We find that the context of socioeconomic status influenced how a young person managed family rejection. Conversely, processes of familial acceptance were also connected to life course transitions that worked in some cases to enhance LGBTQ young adults' family relationships. Finally, the intricacy of familial reactions to a young person's LGBTQ identity transcended socioeconomic contexts as many respondents shared similar experiences of rejection and acceptance. These findings have implications for understanding how young people manage family relationships across different contexts of socioeconomic status and how these experiences can shape their life course trajectories. Results from this study can inform LGBTQ youth service providers by tailoring intervention programs that account for contextual social diversity.

Regions identity between the genome of vertebrates and non-retroviral families of insect viruses.

Science.gov (United States)

Fan, Gaowei; Li, Jinming

2011-11-10

The scope of our understanding of the evolutionary history between viruses and animals is limited. The fact that the recent availability of many complete insect virus genomes and vertebrate genomes as well as the ability to screen these sequences makes it possible to gain a new perspective insight into the evolutionary interaction between insect viruses and vertebrates. This study is to determine the possibility of existence of sequence identity between the genomes of insect viruses and vertebrates, attempt to explain this phenomenon in term of genetic mobile element, and try to investigate the evolutionary relationship between these short regions of identity among these species. Some of studied insect viruses contain variable numbers of short regions of sequence identity to the genomes of vertebrate with nucleotide sequence length from 28 bp to 124 bp. They are found to locate in multiple sites of the vertebrate genomes. The ontology of animal genes with identical regions involves in several processes including chromatin remodeling, regulation of apoptosis, signaling pathway, nerve system development and some enzyme-like catalysis. Phylogenetic analysis reveals that at least some short regions of sequence identity in the genomes of vertebrate are derived the ancestral of insect viruses. Short regions of sequence identity were found in the vertebrates and insect viruses. These sequences played an important role not only in the long-term evolution of vertebrates, but also in promotion of insect virus. This typical win-win strategy may come from natural selection.

Family physicians' professional identity formation: a study protocol to explore impression management processes in institutional academic contexts.

Science.gov (United States)

Rodríguez, Charo; Pawlikowska, Teresa; Schweyer, Francois-Xavier; López-Roig, Sofia; Bélanger, Emmanuelle; Burns, Jane; Hugé, Sandrine; Pastor-Mira, Maria Ángeles; Tellier, Pierre-Paul; Spencer, Sarah; Fiquet, Laure; Pereiró-Berenguer, Inmaculada

2014-09-06

Despite significant differences in terms of medical training and health care context, the phenomenon of medical students' declining interest in family medicine has been well documented in North America and in many other developed countries as well. As part of a research program on family physicians' professional identity formation initiated in 2007, the purpose of the present investigation is to examine in-depth how family physicians construct their professional image in academic contexts; in other words, this study will allow us to identify and understand the processes whereby family physicians with an academic appointment seek to control the ideas others form about them as a professional group, i.e. impression management. The methodology consists of a multiple case study embedded in the perspective of institutional theory. Four international cases from Canada, France, Ireland and Spain will be conducted; the "case" is the medical school. Four levels of analysis will be considered: individual family physicians, interpersonal relationships, family physician professional group, and organization (medical school). Individual interviews and focus groups with academic family physicians will constitute the main technique for data generation, which will be complemented with a variety of documentary sources. Discourse techniques, more particularly rhetorical analysis, will be used to analyze the data gathered. Within- and cross-case analysis will then be performed. This empirical study is strongly grounded in theory and will contribute to the scant body of literature on family physicians' professional identity formation processes in medical schools. Findings will potentially have important implications for the practice of family medicine, medical education and health and educational policies.

Whole Exome Sequencing Reveals Genetic Predisposition in a Large Family with Retinitis Pigmentosa

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Juan Wu

2014-01-01

Full Text Available Next-generation sequencing has become more widely used to reveal genetic defect in monogenic disorders. Retinitis pigmentosa (RP, the leading cause of hereditary blindness worldwide, has been attributed to more than 67 disease-causing genes. Due to the extreme genetic heterogeneity, using general molecular screening alone is inadequate for identifying genetic predispositions in susceptible individuals. In order to identify underlying mutation rapidly, we utilized next-generation sequencing in a four-generation Chinese family with RP. Two affected patients and an unaffected sibling were subjected to whole exome sequencing. Through bioinformatics analysis and direct sequencing confirmation, we identified p.R135W transition in the rhodopsin gene. The mutation was subsequently confirmed to cosegregate with the disease in the family. In this study, our results suggest that whole exome sequencing is a robust method in diagnosing familial hereditary disease.

Relationships between parenting and adolescent adjustment over time: genetic and environmental contributions.

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Neiderhiser, J M; Reiss, D; Hetherington, E M; Plomin, R

1999-05-01

The predictive association between parenting and adolescent adjustment has been assumed to be environmental; however, genetic and environmental contributions have not been examined. This article represents one effort to examine these associations in which a genetically informative design was used. Participants were 395 families with adolescent siblings who participated in the Nonshared Environment in Adolescent Development (D. Reiss et al., 1994) project at 2 times of assessment, 3 years apart. There were 5 sibling types in 2 types of families: 63 identical twins, 75 fraternal twins, and 58 full siblings in nondivorced families and 95 full, 60 half, and 44 genetically unrelated siblings in stepfamilies. Results indicate that the cross-lagged associations between parental conflict-negativity and adolescent antisocial behavior and depressive symptoms can be explained primarily by genetic factors. These findings emphasize the need to recognize and examine the impact that adolescents have on parenting and the contribution of genetic factors to developmental change.

[Genetic, epidemiologic and clinical study of familial prostate cancer].

Science.gov (United States)

Valéri, Antoine

2002-01-01

Prostate cancer (CaP) is the most frequent cancer among men over 50 and its frequency increases with age. It has become a significant public health problem due to the ageing population. Epidemiologists report familial aggregation in 15 to 25% of cases and inherited susceptibility with autosomal dominant or X-linked model in 5 to 10% of cases. Clinical and biological features of familial CaP remain controversial. To perform: (1) Genetic study of familial Cap (mapping of susceptibility genes), (2) epidemiologic study (prevalence, associated cancers in the genealogy, model of transmission), and clinical study of familial CaP. (I) conducting a nationwide family collection (ProGène study) with 2+ CaP we have performed a genomewide linkage analysis and identified a predisposing locus on 1q42.2-43 named PCaP (Predisposing to Cancer of the Prostate); (II) conducting a systematic genealogic analysis of 691 CaP followed up in 3 University departments of urology (Hospitals of Brest, Paris St Louis and Nancy) we have observed: (1) 14.2% of familial and 3.6% of hereditary CaP, (2) a higher risk of breast cancer in first degree relatives of probands (CaP+) in familial CaP than in sporadic CaP and in early onset CaP (< 55 years) when compared with late onset CaP ([dG]75 years), (3) an autosomal dominant model with brother-brother dependance), (4) the lack of specific clinical or biological feature (except for early onset) in hereditary CaP when compared with sporadic CaP. (1) The mapping of a susceptibility locus will permit the cloning of a predisposing gene on 1q42.2-43, offer the possibility of genetic screening in families at risk and permit genotype/phenotype correlation studies; (2) the transmission model will improve parameteric linkage studies; (3) the lack of distinct specific clinical patterns suggest diagnostic and follow up modalities for familial and hereditary CaP similar to sporadic cancer while encouraging early screening of families at risk, given the earlier

Physical activity level of three generation families. Genetic and environmental factors

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Raquel Nichele de Chaves

2010-09-01

Full Text Available This study aims (1 to investigate the presence of familial aggregation in physical activity (PA levels and sedentary behavior (SB among members of three generations families and (2 to estimate the magnitude of additive genetic influences on PA and SB phenotypes. The sample consisted of 100 extended families covering three generations (n=1034, from the Lisbon area, Portugal. Phenotypes were assessed via the short version of the self-administered International Physical Activity Questionnaire (IPAQ-SF. Measured phenotypes: total physical activity (TPA; vigorous (VPA; moderate (MPA; walking; time spent in sitting time (ST, watching television (WT and PA levels classification. Body mass index (BMI was calculated. Exploratory family analysis in all phenotypes was conducted in PEDSTATS software. The genetic component (h2 and shared environmental effect were estimated using maximum likelihood implemented in the SOLAR software package. All graphs were done in HLM software. Sex, age, sex*age, age2, sex*age2 and BMI were used as covariates. Significant level was set at 0,05. Genetic component estimates (h2 were as follows: TPA h2=0,28±0,06 (p<0.0001; VPA h2=0,35±0,06 (p<0.0001; MPA h2=0,29±0,06 (p<0.0001; walking h2=0,40±0,06 (p<0.0001; ST h2=0,29±0,06 (p<0.0001; WT h2=0,15±0,06 (p<0.003 and determination of the level physical activity h2=0,35±0,14 (p<0.007. Shared environmental effect was not significant. These results showed a low-to-moderate genetic contribution, between 15% to 40% of the total variability, in the PA and SB phenotypes. The genetic factors have low to moderate influence in this sample. Non-shared environmental factors appear to have the major contribution in these phenotypes.

Genetic counseling in Usher syndrome: linkage and mutational analysis of 10 Colombian families.

Science.gov (United States)

Tamayo, M L; Lopez, G; Gelvez, N; Medina, D; Kimberling, W J; Rodríguez, V; Tamayo, G E; Bernal, J E

2008-01-01

Usher Syndrome (US), an autosomal recessive disease, is characterized by retinitis pigmentosa (RP), vestibular dysfunction, and congenital sensorineural deafness. There are three recognized clinical types of the disorder. In order to improve genetic counseling for affected families, we conducted linkage analysis and DNA sequencing in 10 Colombian families with confirmed diagnosis of US (4 type I and 6 type II). Seventy-five percent of the US1 families showed linkage to locus USH1B, while the remaining 25% showed linkage to loci USH1B and USH1C. Among families showing linkage to USH1B we found two different mutations in the MYO7A gene: IVS42-26insTTGAG in exon 43 (heterozygous state) and R634X (CGA-TGA) in exon 16 (homozygous state). All six US2 families showed linkage to locus USH2A. Of them, 4 had c.2299delG mutation (1 homozygote state and 3 heterozygous); in the remaining 2 we did not identify any pathologic DNA variant. USH2A individuals with a 2299delG mutation presented a typical and homogeneous retinal phenotype with bilateral severe hearing loss, except for one individual with a heterozygous 2299delG mutation, whose hearing loss was asymmetric, but more profound than in the other cases. The study of these families adds to the genotype-phenotype characterization of the different types and subtypes of US and facilitates genetic counseling in these families. We would like to emphasize the need to perform DNA studies as a prerequisite for genetic counseling in affected families.

Genetic and Familial Environmental Effects on Suicide - An Adoption Study of Siblings

DEFF Research Database (Denmark)

Petersen, Liselotte; Sørensen, Thorkild I.A.; Andersen, Per Kragh

2013-01-01

While there is clear evidence of familial influences on suicide, the origin of these is less certain. We have investigated genetic and familial environmental factors by studying the occurrence of suicide in biological and adoptive siblings of adoptees who died by suicide compared to siblings...

Combined approach for finding susceptibility genes in DISH/chondrocalcinosis families: whole-genome-wide linkage and IBS/IBD studies.

Science.gov (United States)

Couto, Ana Rita; Parreira, Bruna; Thomson, Russell; Soares, Marta; Power, Deborah M; Stankovich, Jim; Armas, Jácome Bruges; Brown, Matthew A

2017-01-01

Twelve families with exuberant and early-onset calcium pyrophosphate dehydrate chondrocalcinosis (CC) and diffuse idiopathic skeletal hyperostosis (DISH), hereafter designated DISH/CC, were identified in Terceira Island, the Azores, Portugal. Ninety-two (92) individuals from these families were selected for whole-genome-wide linkage analysis. An identity-by-descent (IBD) analysis was performed in 10 individuals from 5 of the investigated pedigrees. The chromosome area with the maximal logarithm of the odds score (1.32; P =0.007) was not identified using the IBD/identity-by-state (IBS) analysis; therefore, it was not investigated further. From the IBD/IBS analysis, two candidate genes, LEMD3 and RSPO4 , were identified and sequenced. Nine genetic variants were identified in the RSPO4 gene; one regulatory variant (rs146447064) was significantly more frequent in control individuals than in DISH/CC patients ( P =0.03). Four variants were identified in LEMD3 , and the rs201930700 variant was further investigated using segregation analysis. None of the genetic variants in RSPO4 or LEMD3 segregated within the studied families. Therefore, although a major genetic effect was shown to determine DISH/CC occurrence within these families, the specific genetic variants involved were not identified.

Family system characteristics and psychological adjustment to cancer susceptibility genetic testing: a prospective study.

NARCIS (Netherlands)

Oostrom, I.I.H. van; Meijers-Heijboer, H.; Duivenvoorden, H.J.; Brocker-Vriends, A.H.; Asperen, C.J. van; Sijmons, R.H.; Seynaeve, C.; Gool, A.R. van; Klijn, J.G.M.; Tibben, A.

2007-01-01

This study examined prospectively the contribution of family functioning, differentiation to parents, family communication and support from relatives to psychological distress in individuals undergoing genetic susceptibility testing for a known familial pathogenic BRCA1/2 or Hereditary nonpolyposis

Family system characteristics and psychological adjustment to cancer susceptibility genetic testing: a prospective study

NARCIS (Netherlands)

van Oostrom, I.; Meijers-Heijboer, H.; Duivenvoorden, H. J.; Bröcker-Vriends, A. H. J. T.; van Asperen, C. J.; Sijmons, R. H.; Seynaeve, C.; van Gool, A. R.; Klijn, J. G. M.; Tibben, A.

2007-01-01

This study examined prospectively the contribution of family functioning, differentiation to parents, family communication and support from relatives to psychological distress in individuals undergoing genetic susceptibility testing for a known familial pathogenic BRCA1/2 or Hereditary nonpolyposis

Family system characteristics and psychological adjustment to cancer susceptibility genetic testing : a prospective study

NARCIS (Netherlands)

van Oostrom, I.; Meijers-Heijboer, H.; Duivenvoorden, H. J.; Brocker-Vriends, A. H. J. T.; van Asperen, C. J.; Sijmons, R. H.; Seynaeve, C.; Van Gool, A. R.; Klijn, J. G. M.; Tibben, A.

This study examined prospectively the contribution of family functioning, differentiation to parents, family communication and support from relatives to psychological distress in individuals undergoing genetic susceptibility testing for a known familial pathogenic BRCA1/2 or Hereditary nonpolyposis

Regions identity between the genome of vertebrates and non-retroviral families of insect viruses

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Fan Gaowei

2011-11-01

Full Text Available Abstract Background The scope of our understanding of the evolutionary history between viruses and animals is limited. The fact that the recent availability of many complete insect virus genomes and vertebrate genomes as well as the ability to screen these sequences makes it possible to gain a new perspective insight into the evolutionary interaction between insect viruses and vertebrates. This study is to determine the possibility of existence of sequence identity between the genomes of insect viruses and vertebrates, attempt to explain this phenomenon in term of genetic mobile element, and try to investigate the evolutionary relationship between these short regions of identity among these species. Results Some of studied insect viruses contain variable numbers of short regions of sequence identity to the genomes of vertebrate with nucleotide sequence length from 28 bp to 124 bp. They are found to locate in multiple sites of the vertebrate genomes. The ontology of animal genes with identical regions involves in several processes including chromatin remodeling, regulation of apoptosis, signaling pathway, nerve system development and some enzyme-like catalysis. Phylogenetic analysis reveals that at least some short regions of sequence identity in the genomes of vertebrate are derived the ancestral of insect viruses. Conclusion Short regions of sequence identity were found in the vertebrates and insect viruses. These sequences played an important role not only in the long-term evolution of vertebrates, but also in promotion of insect virus. This typical win-win strategy may come from natural selection.

The underlying mechanisms of genetic innovation and speciation in the family Corynebacteriaceae: A phylogenomics approach.

Science.gov (United States)

Zhi, Xiao-Yang; Jiang, Zhao; Yang, Ling-Ling; Huang, Ying

2017-02-01

The pangenome of a bacterial species population is formed by genetic reduction and genetic expansion over the long course of evolution. Gene loss is a pervasive source of genetic reduction, and (exogenous and endogenous) gene gain is the main driver of genetic expansion. To understand the genetic innovation and speciation of the family Corynebacteriaceae, which cause a wide range of serious infections in humans and animals, we analyzed the pangenome of this family, and reconstructed its phylogeny using a phylogenomics approach. Genetic variations have occurred throughout the whole evolutionary history of the Corynebacteriaceae. Gene loss has been the primary force causing genetic changes, not only in terms of the number of protein families affected, but also because of its continuity on the time series. The variation in metabolism caused by these genetic changes mainly occurred for membrane transporters, two-component systems, and metabolism related to amino acids and carbohydrates. Interestingly, horizontal gene transfer (HGT) not only caused changes related to pathogenicity, but also triggered the acquisition of antimicrobial resistance. The Darwinian theory of evolution did not adequately explain the effects of dispersive HGT and/or gene loss in the evolution of the Corynebacteriaceae. These findings provide new insight into the evolution and speciation of Corynebacteriaceae and advance our understanding of the genetic innovation in microbial populations. Copyright © 2016 Elsevier Inc. All rights reserved.

Quantitative autistic trait measurements index background genetic risk for ASD in Hispanic families.

Science.gov (United States)

Page, Joshua; Constantino, John Nicholas; Zambrana, Katherine; Martin, Eden; Tunc, Ilker; Zhang, Yi; Abbacchi, Anna; Messinger, Daniel

2016-01-01

Recent studies have indicated that quantitative autistic traits (QATs) of parents reflect inherited liabilities that may index background genetic risk for clinical autism spectrum disorder (ASD) in their offspring. Moreover, preferential mating for QATs has been observed as a potential factor in concentrating autistic liabilities in some families across generations. Heretofore, intergenerational studies of QATs have focused almost exclusively on Caucasian populations-the present study explored these phenomena in a well-characterized Hispanic population. The present study examined QAT scores in siblings and parents of 83 Hispanic probands meeting research diagnostic criteria for ASD, and 64 non-ASD controls, using the Social Responsiveness Scale-2 (SRS-2). Ancestry of the probands was characterized by genotype, using information from 541,929 single nucleotide polymorphic markers. In families of Hispanic children with an ASD diagnosis, the pattern of quantitative trait correlations observed between ASD-affected children and their first-degree relatives (ICCs on the order of 0.20), between unaffected first-degree relatives in ASD-affected families (sibling/mother ICC = 0.36; sibling/father ICC = 0.53), and between spouses (mother/father ICC = 0.48) were in keeping with the influence of transmitted background genetic risk and strong preferential mating for variation in quantitative autistic trait burden. Results from analysis of ancestry-informative genetic markers among probands in this sample were consistent with that from other Hispanic populations. Quantitative autistic traits represent measurable indices of inherited liability to ASD in Hispanic families. The accumulation of autistic traits occurs within generations, between spouses, and across generations, among Hispanic families affected by ASD. The occurrence of preferential mating for QATs-the magnitude of which may vary across cultures-constitutes a mechanism by which background genetic liability

Prenatal diagnosis and genetic counseling for Waardenburg syndrome type I and II in Chinese families.

Science.gov (United States)

Wang, Li; Qin, Litao; Li, Tao; Liu, Hongjian; Ma, Lingcao; Li, Wan; Wu, Dong; Wang, Hongdan; Guo, Qiannan; Guo, Liangjie; Liao, Shixiu

2018-01-01

Waardenburg syndrome (WS) is an auditory‑pigmentary disorder with varying combinations of sensorineural hearing loss and abnormal pigmentation. The present study aimed to investigate the underlying molecular pathology and provide a method of prenatal diagnosis of WS in Chinese families. A total of 11 patients with WS from five unrelated Chinese families were enrolled. A thorough clinical examination was performed on all participants. Furthermore, patients with WS underwent screening for mutations in the following genes: Paired box 3 (PAX3), melanogenesis associated transcription factor (MITF), SRY‑box 10, snail family transcriptional repressor 2 and endothelin receptor type B using polymerase chain reaction sequencing. Array‑based comparative genomic hybridization was used for specific patients whose sequence results were normal. Following identification of the genotype of the probands and their parents, prenatal genetic diagnosis was performed for family 01 and 05. According to the diagnostic criteria for WS, five cases were diagnosed as WS1, while the other six cases were WS2. Genetic analysis revealed three mutations, including a nonsense mutation PAX3 c.583C>T in family 01, a splice‑site mutation MITF c.909G>A in family 03 and an in‑frame deletion MITF c.649_651delGAA in family 05. To the best of the authors' knowledge the mutations (c.583C>T in PAX3 and c.909G>A in MITF) were reported for the first time in Chinese people. Mutations in the gene of interest were not identified in family 02 and 04. The prenatal genetic testing of the two fetuses was carried out and demonstrated that the two babies were normal. The results of the present study expanded the range of known genetic mutations in China. Identification of genetic mutations in these families provided an efficient way to understand the causes of WS and improved genetic counseling.

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.

A comparative study of LRRK2, PINK1 and genetically undefined familial Parkinson's disease.

Science.gov (United States)

Nishioka, Kenya; Kefi, Mounir; Jasinska-Myga, Barbara; Wider, Christian; Vilariño-Güell, Carles; Ross, Owen A; Heckman, Michael G; Middleton, Lefkos T; Ishihara-Paul, Lianna; Gibson, Rachel A; Amouri, Rim; Ben Yahmed, Samia; Ben Sassi, Samia; Zouari, Mourad; El Euch, Ghada; Farrer, Matthew J; Hentati, Faycal

2010-04-01

Genetic classification of Parkinson's disease (PD) subtypes may become the preferred diagnostic tool for neurologists. Herein we compare clinical features from a large cohort of patients with familial PD of unknown aetiology or attributable to distinct genetic forms. Comprehensive neurological examinations were performed in 231 familial PD patients from Tunisia. Analysis was previously performed to screen for mutations in leucine rich repeat kinase 2 (LRRK2), PTEN induced kinase 1 (PINK1) and parkin (PRKN). Clinical features were compared between patients with genetically undefined PD (n=107) and those with LRRK2 (n=73) and PINK1 (n=42) mutations using regression analyses adjusted for gender, age of onset and disease duration. PRKN cases (n=9) were too few for meaningful statistical analysis. In comparison with genetically undefined patients, LRRK2 mutation carriers had more severe motor symptoms (median Unified Parkinson's Disease Rating Scale scores approximately 1.6 times higher, pundefined patients. As expected, PINK1 patients had younger ages and ages at disease onset, and a longer disease duration compared with LRRK2 mutation carriers and genetically undefined patients. Clinical differences between LRRK2, PINK1 and genetically undefined familial PD appear more pronounced than previously appreciated, and may prove useful in clinical practice. As future therapies are targeted to specific protein abnormalities, identifying the genetic causes and associated clinical and pathological features will determine diagnosis, preventative medicine and drug intervention strategies.

Genetic anticipation in Swedish Lynch syndrome families

OpenAIRE

von Salomé, Jenny; Boonstra, Philip S.; Karimi, Masoud; Silander, Gustav; Stenmark-Askmalm, Marie; Gebre-Medhin, Samuel; Aravidis, Christos; Nilbert, Mef; Lindblom, Annika; Lagerstedt-Robinson, Kristina

2017-01-01

Among hereditary colorectal cancer predisposing syndromes, Lynch syndrome (LS) caused by mutations in DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2 is the most common. Patients with LS have an increased risk of early onset colon and endometrial cancer, but also other tumors that generally have an earlier onset compared to the general population. However, age at first primary cancer varies within families and genetic anticipation, i.e. decreasing age at onset in successive generations, ha...

Diabetes-specific genetic effects on obesity traits in American Indian populations: the Strong Heart Family Study

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Howard Barbara V

2008-10-01

Full Text Available Abstract Background Body fat mass distribution and deposition are determined by multiple environmental and genetic factors. Obesity is associated with insulin resistance, hyperinsulinemia, and type 2 diabetes. We previously identified evidence for genotype-by-diabetes interaction on obesity traits in Strong Heart Family Study (SHFS participants. To localize these genetic effects, we conducted genome-wide linkage scans of obesity traits in individuals with and without type 2 diabetes, and in the combined sample while modeling interaction with diabetes using maximum likelihood methods (SOLAR 2.1.4. Methods SHFS recruited American Indians from Arizona, North and South Dakota, and Oklahoma. Anthropometric measures and diabetes status were obtained during a clinic visit. Marker allele frequencies were derived using maximum likelihood methods estimated from all individuals and multipoint identity by descent sharing was estimated using Loki. We used variance component linkage analysis to localize quantitative trait loci (QTLs influencing obesity traits. We tested for evidence of additive and QTL-specific genotype-by-diabetes interactions using the regions identified in the diabetes-stratified analyses. Results Among 245 diabetic and 704 non-diabetic American Indian individuals, we detected significant additive gene-by-diabetes interaction for weight and BMI (P P Conclusion These results suggest distinct genetic effects on body mass in individuals with diabetes compared to those without diabetes, and a possible role for one or more genes on chromosome 1 in the pathogenesis of obesity.

Genetic risk of rhegmatogenous retinal detachment a familial aggregation study

NARCIS (Netherlands)

S.L. Go (Sioe Lie); C. Hoyng (Carel); C.C.W. Klaver (Caroline)

2005-01-01

textabstractObjective: To investigate the magnitude of the genetic risk of nonsyndromic rhegmatogenous retinal detachments (RRDs) in a familial aggregation study. Design: Two hundred three consecutive patients with RRD and 461 controls without RRD were ascertained at the Department of Ophthalmology

The constitution of marginalized identity in Signs of identity by Juan Goytisolo

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Jelica Veljović

2014-12-01

Full Text Available The main objective of the article is to investigate the modes of constitution of a marginalized and exiled identity in the novel Signs of identity by Juan Goytisolo. It is categorised as a “testimony and postwar novel”, and the subjects’ constant search of themselves, of their Self and all the elements that constitute their identity is central to the work. The novel is set in the postwar socio-historical period and the protagonist – Alvaro Mendiola – searches for his identity in his childhood memories and family pictures, but also amongst all the Others whose life stories intertwine with his journey of identification. Tracing his line of identity formation, we found three different routes: the first through the genealogical records, the second through the concept of Otherness and the last one through love. We find Identity as a kaleidoscope containing all the Others who served as moulds for his Identity, yet leaving it undefined and incomplete. Therefore, the identity of an exiled and marginalized individual is always in flux, continually reinitiating the constitution of the Self that had been eradicated from its first and formative imagery: the family and the fatherland.

Identity and the Management Project

DEFF Research Database (Denmark)

Jørgensen, Kenneth Mølbjerg; Dehlin, Erlend

The paper discusses the concept of identity in relation to management. We take our starting point in Wittgenstein’s concept language games. We argue that identity is a question of using linguistic tools to construct reality. Two elements of the language game metaphor are central here: rules...... and family resemblance. As such, managing identity in organizations is closely linked to rules and family resemblance. Organizations manage identity through the definition of norms and values for right or wrong, appropriate or inappropriate, to name but a few. Norms and values are important as reference...... points for constructing identities. Managing identity has become more important because the rules-of-the-game have become more unstable. Managing identity is important if the bonds between individuals and organizations are to be sustained. But this task is contradictory and paradoxical of its very nature...

The Prediction of Identity Crisis and Addiction Tendency Based on Islamic Beliefs and Family Climate among the nursing and midwifery students

OpenAIRE

Fatemeh Sadat Marashian; Sahar Safarzadeh

2017-01-01

Background and purpose: Recognition identity crisis versus constructing the identity and committing delinquent behaviors, such as addiction tendency and recognizing its predictive variables stand amongst the most crucial issues throughout early adulthood. The present research aimed to shed light upon the prediction of identity crisis and addiction tendency based on the practical commitment to Islamic beliefs and affective family climate among the nursing and midwifery students in Islamic Azad...

Introducing medical genetics services in Ethiopia using the MiGene Family History App.

Science.gov (United States)

Quinonez, Shane C; Yeshidinber, Abate; Lourie, Michael A; Bekele, Delayehu; Mekonnen, Yemisrach; Nigatu, Balkachew; Metaferia, Gesit; Jebessa, Solomie

2018-06-11

Almost all low-income countries and many middle-income countries lack the capacity to deliver medical genetics services. We developed the MiGene Family History App (MFHA), which assists doctors with family history collection and population-level epidemiologic analysis. The MFHA was studied at St. Paul's Hospital in Addis Ababa, Ethiopia. A needs assessment was used to assess Ethiopian physicians' experience with genetics services. The MFHA then collected patient data over a 6-month period. The majority of doctors provide genetics services, with only 16% reporting their genetics knowledge is sufficient. A total of 1699 patients from the pediatric ward (n = 367), neonatal intensive care unit (NICU) (n = 477), and antenatal clinic (n = 855) were collected using the MFHA with a 4% incidence of a MFHA-screened condition present. The incidence was 11.7% in the pediatric ward, 3% in the NICU, and 0.5% in the antenatal clinic. Heart malformations (5.5% of patients) and trisomy 21 (4.4% of patients) were the most common conditions in the pediatric ward. Medical genetics services are needed in Ethiopia. As other countries increase their genetics capacity, the MFHA can provide fundamental genetics services and collect necessary epidemiologic data.

Genetic risk of rhegmatogenous retinal detachment: a familial aggregation study.

NARCIS (Netherlands)

Go, S.L.; Hoyng, C.B.; Klaver, C.C.W.

2005-01-01

OBJECTIVE: To investigate the magnitude of the genetic risk of nonsyndromic rhegmatogenous retinal detachments (RRDs) in a familial aggregation study. DESIGN: Two hundred three consecutive patients with RRD and 461 controls without RRD were ascertained at the Department of Ophthalmology of the

Early genetic evaluation of open-pollinated Douglas-fir families

Science.gov (United States)

Kurt H. Riitters; David A. Perry

1987-01-01

In a test of early genetic evaluation of the growth potential of 14 families of open-pollinated Douglas-fir (Pseudotsuga menziesii) [Mirb.] Franco), measures of growth and phenology of seedligns grown in a coldframe were correlated with height of saplings in evaluation plantations at 9, 12, and 15 years. fifteen-year height was most strongly...

Genetic counseling for a three-generation Chinese family with Waardenburg syndrome type II associated with a rare SOX10 mutation.

Science.gov (United States)

Chen, Kaitian; Zong, Ling; Zhan, Yuan; Wu, Xuan; Liu, Min; Jiang, Hongyan

2015-05-01

Waardenburg syndrome is clinically and genetically heterogeneous. The SOX10 mutation related with Waardenburg syndrome type II is rare in Chinese. This study aimed to uncover the genetic causes of Waardenburg syndrome type II in a three-generation family to improve genetic counseling. Complete clinical and molecular evaluations were conducted in a three-generation Han Chinese family with Waardenburg syndrome type II. Targeted genetic counseling was provided to this family. We identified a rare heterozygous dominant mutation c.621C>A (p.Y207X) in SOX10 gene in this family. The premature termination codon occurs in exon 4, 27 residues downstream of the carboxyl end of the high mobility group box. Bioinformatics prediction suggested this variant to be disease-causing, probably due to nonsense-mediated mRNA decay. Useful genetic counseling was given to the family for prenatal guidance. Identification of a rare dominant heterozygous SOX10 mutation c.621C>A in this family provided an efficient way to understand the causes of Waardenburg syndrome type II and improved genetic counseling. Copyright © 2015 Elsevier Ireland Ltd. All rights reserved.

A genetic diagnosis of maturity-onset diabetes of the young (MODY): experiences of patients and family members.

Science.gov (United States)

Bosma, A R; Rigter, T; Weinreich, S S; Cornel, M C; Henneman, L

2015-10-01

Genetic testing for maturity-onset diabetes of the young (MODY) facilitates a correct diagnosis, enabling treatment optimization and allowing monitoring of asymptomatic family members. To date, the majority of people with MODY remain undiagnosed. To identify patients' needs and areas for improving care, this study explores the experiences of patients and family members who have been genetically tested for MODY. Fourteen semi-structured interviews with patients and the parents of patients, and symptomatic and asymptomatic family members were conducted. Atlas.ti was used for thematic analysis. Most people with MODY were initially misdiagnosed with Type 1 or Type 2 diabetes; they had been seeking for the correct diagnosis for a long time. Reasons for having a genetic test included reassurance, removing the uncertainty of developing diabetes (in asymptomatic family members) and informing relatives. Reasons against testing were the fear of genetic discrimination and not having symptoms. Often a positive genetic test result did not come as a surprise. Both patients and family members were satisfied with the decision to get tested because it enabled them to adjust their lifestyle and treatment accordingly. All participants experienced a lack of knowledge of MODY among healthcare professionals, in their social environment and in patient organizations. Additionally, problems with the reimbursement of medical expenses were reported. Patients and family members are generally positive about genetic testing for MODY. More education of healthcare professionals and attention on the part of diabetes organizations is needed to increase awareness and optimize care and support for people with MODY. © 2015 The Authors. Diabetic Medicine © 2015 Diabetes UK.

A prospective study of the impact of genetic susceptibility testing for BRCA1/2 or HNPCC on family relationships

NARCIS (Netherlands)

van Oostrom, Iris; Meijers-Heijboer, Hanne; Duivenvoorden, Hugo J.; Brocker-Vriends, Annette H. J. T.; van Asperen, Chhstl J.; Sijmons, Rolf H.; Seynaeve, Caroline; Van Gool, Arthur R.; Klijn, Jan G. M.; Riedijk, Samantha R.; van Dooren, Silvia; Tibben, Aad

This study assessed the impact of genetic testing for cancer susceptibility on family relationships and determinants of adverse consequences for family relationships. Applicants for genetic testing of a known familial pathogenic mutation in BRCA1/2 or a HNPCC related gene (N = 271) rated the

A prospective study of the impact of genetic susceptibility testing for BRCA1/2 or HNPCC on family relationships

NARCIS (Netherlands)

van Oostrom, Iris; Meijers-Heijboer, Hanne; Duivenvoorden, Hugo J.; Bröcker-Vriends, Annette H. J. T.; van Asperen, Christi J.; Sijmons, Rolf H.; Seynaeve, Caroline; van Gool, Arthur R.; Klijn, Jan G. M.; Riedijk, Samantha R.; van Dooren, Silvia; Tibben, Aad

2007-01-01

This study assessed the impact of genetic testing for cancer susceptibility on family relationships and determinants of adverse consequences for family relationships. Applicants for genetic testing of a known familial pathogenic mutation in BRCA1/2 or a HNPCC related gene (N=271) rated the

A prospective study of the impact of genetic susceptibility testing for BRCA1/2 or HNPCC on family relationships.

NARCIS (Netherlands)

Oostrom, I.I.H. van; Meijers-Heijboer, H.; Duivenvoorden, H.J.; Brocker-Vriends, A.H.; Asperen, C.J. van; Sijmons, R.H.; Seynaeve, C.; Gool, A.R. van; Klijn, J.G.M.; Riedijk, S.R.; Dooren, S. van; Tibben, A.

2007-01-01

This study assessed the impact of genetic testing for cancer susceptibility on family relationships and determinants of adverse consequences for family relationships. Applicants for genetic testing of a known familial pathogenic mutation in BRCA1/2 or a HNPCC related gene (N=271) rated the

Genetic testing in benign familial epilepsies of the first year of life: clinical and diagnostic significance.

Science.gov (United States)

Zara, Federico; Specchio, Nicola; Striano, Pasquale; Robbiano, Angela; Gennaro, Elena; Paravidino, Roberta; Vanni, Nicola; Beccaria, Francesca; Capovilla, Giuseppe; Bianchi, Amedeo; Caffi, Lorella; Cardilli, Viviana; Darra, Francesca; Bernardina, Bernardo Dalla; Fusco, Lucia; Gaggero, Roberto; Giordano, Lucio; Guerrini, Renzo; Incorpora, Gemma; Mastrangelo, Massimo; Spaccini, Luigina; Laverda, Anna Maria; Vecchi, Marilena; Vanadia, Francesca; Veggiotti, Pierangelo; Viri, Maurizio; Occhi, Guya; Budetta, Mauro; Taglialatela, Maurizio; Coviello, Domenico A; Vigevano, Federico; Minetti, Carlo

2013-03-01

To dissect the genetics of benign familial epilepsies of the first year of life and to assess the extent of the genetic overlap between benign familial neonatal seizures (BFNS), benign familial neonatal-infantile seizures (BFNIS), and benign familial infantile seizures (BFIS). Families with at least two first-degree relatives affected by focal seizures starting within the first year of life and normal development before seizure onset were included. Families were classified as BFNS when all family members experienced neonatal seizures, BFNIS when the onset of seizures in family members was between 1 and 4 months of age or showed both neonatal and infantile seizures, and BFIS when the onset of seizures was after 4 months of age in all family members. SCN2A, KCNQ2, KCNQ3, PPRT2 point mutations were analyzed by direct sequencing of amplified genomic DNA. Genomic deletions involving KCNQ2 and KCNQ3 were analyzed by multiple-dependent probe amplification method. A total of 46 families including 165 affected members were collected. Eight families were classified as BFNS, 9 as BFNIS, and 29 as BFIS. Genetic analysis led to the identification of 41 mutations, 14 affecting KCNQ2, 1 affecting KCNQ3, 5 affecting SCN2A, and 21 affecting PRRT2. The detection rate of mutations in the entire cohort was 89%. In BFNS, mutations specifically involve KCNQ2. In BFNIS two genes are involved (KCNQ2, six families; SCN2A, two families). BFIS families are the most genetically heterogeneous, with all four genes involved, although about 70% of them carry a PRRT2 mutation. Our data highlight the important role of KCNQ2 in the entire spectrum of disorders, although progressively decreasing as the age of onset advances. The occurrence of afebrile seizures during follow-up is associated with KCNQ2 mutations and may represent a predictive factor. In addition, we showed that KCNQ3 mutations might be also involved in families with infantile seizures. Taken together our data indicate an important

Introduction to genetics in ophthalmology, value of family studies

Science.gov (United States)

Ohba

2000-05-01

This paper reviews the author's personal experience with genetic eye diseases and discusses the significance of family studies in providing key information for the advancement of molecular research. Choroideremia: This disease has long been known as an X-linked progressive tapetoretinal degeneration, but it was first described in Japan in 1974 after finding asymptomatic fundus changes in heterozygous female carriers that are compatible with X chromosomal inactivation. Mutations in the disease-causing gene (REP-1) provide a clue to the diagnosis and pathophysiology of the disease.Leber's Hereditary Optic Neuropathy: The clinical expression is so variable among affected individuals and families that mild optic nerve disease of insidious onset should be differentiated from autosomal dominant optic atrophy. Molecular assessment of mitochondrial DNA leads to a definite diagnosis of the disease, but mitochondrial DNA mutations do not fully account for the clinical manifestation and phenotypic variability of the disease.Norrie Disease: This rare X-linked vitreoretinal dysplasia, characterized by congenital bilateral blindness, was documented in Japan some twenty years ago and the disease has been identified in four unrelated Japanese families. The disease, once diagnosed on the basis of elaborate clinical and familial studies, can now be defined by molecular assessment of the Norrie disease gene.Congenital Nystagmus: A four-generation family was described which presented with autosomal dominantly inherited congenital nystagmus, peripheral corneal opacity, and foveal hypoplasia without any iris tissue malformation. The diagnosis of this family was established by detection of a missense mutation in the paired domain of the PAX 6 gene, hence conforming to a forme fruste of congenital aniridia.Sorsby's Fundus Dystrophy: Two Japanese families with Sorsby's fundus dystrophy showed late-onset retinal dystrophy characterized by submacular hemorrhage and atrophy. Our patients

[Introduction to genetics in ophthalmology. Value of family studies].

Science.gov (United States)

Ohba, N

1999-12-01

This paper reviews the author's personal experience with genetic eye diseases and discusses the significance of family studies in providing key information for the advancement of molecular research. CHOROIDEREMIA: This disease has long been known as an X-linked progressive tapetoretinal degeneration, but it was first described in Japan in 1974 after finding asymptomatic fundus changes in heterozygous female carriers that are compatible with X chromosomal inactivation. Mutations in the disease-causing gene (REP-1) provide a clue to the diagnosis and pathophysiology of the disease. LEBER'S HEREDITARY OPTIC NEUROPATHY: The clinical expression is so variable among affected individuals and families that mild optic nerve disease of insidious onset should be differentiated from autosomal dominant optic atrophy. Molecular assessment of mitochondrial DNA leads to a definite diagnosis of the disease, but mitochondrial DNA mutations do not fully account for the clinical manifestation and phenotypic variability of the disease. NORRIE DISEASE: This rare X-linked vitreoretinal dysplasia, characterized by congenital bilateral blindness, was documented in Japan some twenty years ago and the disease has been identified in four unrelated Japanese families. The disease, once diagnosed on the basis of elaborate clinical and familial studies, can now be defined by molecular assessment of the Norrie disease gene. CONGENITAL NYSTAGMUS: A four-generation family was described which presented with autosomal dominantly inherited congenital nystagmus, peripheral corneal opacity, and foveal hypoplasia without any iris tissue malformation. The diagnosis of this family was established by detection of a missense mutation in the paired domain of the PAX 6 gene, hence conforming to a forme fruste of congenital aniridia. SORSBY'S FUNDUS DYSTROPHY: Two Japanese families with Sorsby's fundus dystrophy showed late-onset retinal dystrophy characterized by submacular hemorrhage and atrophy. Our patients

Hierarchy of modular graph identities

Energy Technology Data Exchange (ETDEWEB)

D’Hoker, Eric; Kaidi, Justin [Mani L. Bhaumik Institute for Theoretical Physics, Department of Physics and Astronomy,University of California,Los Angeles, CA 90095 (United States)

2016-11-09

The low energy expansion of Type II superstring amplitudes at genus one is organized in terms of modular graph functions associated with Feynman graphs of a conformal scalar field on the torus. In earlier work, surprising identities between two-loop graphs at all weights, and between higher-loop graphs of weights four and five were constructed. In the present paper, these results are generalized in two complementary directions. First, all identities at weight six and all dihedral identities at weight seven are obtained and proven. Whenever the Laurent polynomial at the cusp is available, the form of these identities confirms the pattern by which the vanishing of the Laurent polynomial governs the full modular identity. Second, the family of modular graph functions is extended to include all graphs with derivative couplings and worldsheet fermions. These extended families of modular graph functions are shown to obey a hierarchy of inhomogeneous Laplace eigenvalue equations. The eigenvalues are calculated analytically for the simplest infinite sub-families and obtained by Maple for successively more complicated sub-families. The spectrum is shown to consist solely of eigenvalues s(s−1) for positive integers s bounded by the weight, with multiplicities which exhibit rich representation-theoretic patterns.

Hierarchy of modular graph identities

International Nuclear Information System (INIS)

D’Hoker, Eric; Kaidi, Justin

2016-01-01

The low energy expansion of Type II superstring amplitudes at genus one is organized in terms of modular graph functions associated with Feynman graphs of a conformal scalar field on the torus. In earlier work, surprising identities between two-loop graphs at all weights, and between higher-loop graphs of weights four and five were constructed. In the present paper, these results are generalized in two complementary directions. First, all identities at weight six and all dihedral identities at weight seven are obtained and proven. Whenever the Laurent polynomial at the cusp is available, the form of these identities confirms the pattern by which the vanishing of the Laurent polynomial governs the full modular identity. Second, the family of modular graph functions is extended to include all graphs with derivative couplings and worldsheet fermions. These extended families of modular graph functions are shown to obey a hierarchy of inhomogeneous Laplace eigenvalue equations. The eigenvalues are calculated analytically for the simplest infinite sub-families and obtained by Maple for successively more complicated sub-families. The spectrum is shown to consist solely of eigenvalues s(s−1) for positive integers s bounded by the weight, with multiplicities which exhibit rich representation-theoretic patterns.

Homozygous Familial Hypercholesterolemia Patients With Identical Mutations Variably Express the LDLR (Low-Density Lipoprotein Receptor): Implications for the Efficacy of Evolocumab.

Science.gov (United States)

Thedrez, Aurélie; Blom, Dirk J; Ramin-Mangata, Stéphane; Blanchard, Valentin; Croyal, Mikaël; Chemello, Kévin; Nativel, Brice; Pichelin, Matthieu; Cariou, Bertrand; Bourane, Steeve; Tang, Lihua; Farnier, Michel; Raal, Frederick J; Lambert, Gilles

2018-03-01

Evolocumab, a PCSK9 (proprotein convertase subtilisin kexin type 9)-neutralizing antibody, lowers low-density lipoprotein cholesterol (LDL-C) in homozygous familial hypercholesterolemic (HoFH) patients with reduced LDLR (low-density lipoprotein receptor) function. However, their individual responses are highly variable, even among carriers of identical LDLR genetic defects. We aimed to elucidate why HoFH patients variably respond to PCSK9 inhibition. Lymphocytes were isolated from 22 HoFH patients enrolled in the TAUSSIG trial (Trial Assessing Long Term Use of PCSK9 Inhibition in Subjects With Genetic LDL Disorders). Ten patients were true homozygotes (FH1/FH1) and 5 identical compound heterozygotes (FH1/FH2). Lymphocytes were plated with or without mevastatin, recombinant PCSK9 (rPCSK9), or a PCSK9-neutralizing antibody. Cell surface LDLR expression was analyzed by flow cytometry. All HoFH lymphocytes had reduced cell surface LDLR expression compared with non-FH lymphocytes, for each treatment modality. Lymphocytes from FH1/FH2 patients (LDLR defective/negative) displayed the lowest LDLR expression levels followed by lymphocytes from FH1/FH1 patients (defective/defective). Mevastatin increased, whereas rPCSK9 reduced LDLR expression. The PCSK9-neutralizing antibody restored LDLR expression. Lymphocytes displaying higher LDLR expression levels were those isolated from patients presenting with lowest levels of LDL-C and apolipoprotein B, before and after 24 weeks of evolocumab treatment. These negative correlations remained significant in FH1/FH1 patients and appeared more pronounced when patients with apolipoprotein E3/E3 genotypes were analyzed separately. Significant positive correlations were found between the levels of LDLR expression and the percentage reduction in LDL-C on evolocumab treatment. Residual LDLR expression in HoFH is a major determinant of LDL-C levels and seems to drive their individual response to evolocumab. © 2017 American Heart Association

Genetic and environmental influences on the familial transmission of externalizing disorders in adoptive and twin offspring.

Science.gov (United States)

Hicks, Brian M; Foster, Katherine T; Iacono, William G; McGue, Matt

2013-10-01

Twin-family studies have shown that parent-child resemblance on substance use disorders and antisocial behavior can be accounted for by the transmission of a general liability to a spectrum of externalizing disorders. Most studies, however, include only biological parents and offspring, which confound genetic and environmental transmission effects. To examine the familial transmission of externalizing disorders among both adoptive (genetically unrelated) and biological relatives to better distinguish genetic and environmental mechanisms of transmission. Family study design wherein each family included the mother, father, and 2 offspring, including monozygotic twin, dizygotic twin, nontwin biological, and adoptive offspring. Structural equation modeling was used to estimate familial transmission effects and their genetic and environmental influences. Participants were recruited from the community and assessed at a university laboratory. A total of 1590 families with biological offspring and 409 families with adoptive offspring. Offspring participants were young adults (mean age, 26.2 years). Symptom counts of conduct disorder, adult antisocial behavior, and alcohol, nicotine, and drug dependence. RESULTS There was a medium effect for the transmission of the general externalizing liability for biological parents (r = 0.27-0.30) but not for adoptive parents (r = 0.03-0.07). In contrast, adoptive siblings exhibited significant similarity on the general externalizing liability (r = 0.21). Biometric analyses revealed that the general externalizing liability was highly heritable (a2 = 0.61) but also exhibited significant shared environmental influences (c2 = 0.20). Parent-child resemblance for substance use disorders and antisocial behavior is primarily due to the genetic transmission of a general liability to a spectrum of externalizing disorders. Including adoptive siblings revealed a greater role of shared environmental influences on the general externalizing liability

Personality development from adolescence to emerging adulthood: linking trajectories of ego development to the family context and identity formation.

Science.gov (United States)

Syed, Moin; Seiffge-Krenke, Inge

2013-02-01

This longitudinal study analyzed personality development using an individual approach by examining changes in ego development across the transition from adolescence to emerging adulthood. Specifically, the study mapped the heterogeniety in ego development growth trajectories and linked the different trajectories to the family context in adolescence and identity development in emerging adulthood. Participants were 98 families with a child who were followed from age 14 to age 24. Latent class growth analysis identified 4 distinct trajectories of growth in ego development of the children over the 10-year period. The results indicated that growth was more rapid during adolescence and tended to taper off in emerging adulthood. In addition, promotion of personal growth within the family and parents' ego development were particulary instrumental in children's ego developmental gains in adolescence. Finally, youth who demonstrated continued ego development into emerging adulthood also demonstrated heightened levels of identity exploration. (c) 2013 APA, all rights reserved.

Genetic diversity of bitter taste receptor gene family in Sichuan

Indian Academy of Sciences (India)

Genetic diversity of bitter taste receptor gene family in Sichuan domestic and Tibetan chicken populations. YUAN SU DIYAN LI UMA GAUR YAN WANG NAN WU BINLONG CHEN HONGXIAN XU HUADONG YIN YAODONG HU QING ZHU. RESEARCH ARTICLE Volume 95 Issue 3 September 2016 pp 675-681 ...

Sending family history questionnaires to patients before a colonoscopy improves genetic counseling for hereditary colorectal cancer.

Science.gov (United States)

Kessels, Koen; Eisinger, Joey D; Letteboer, Tom G; Offerhaus, G Johan A; Siersema, Peter D; Moons, Leon M G

2017-06-01

To investigate whether sending a family history questionnaire to patients prior to undergoing colonoscopy results in an increased availability of family history and better genetic counseling. A questionnaire was mailed to patients before they underwent outpatient colonoscopy at a university hospital in 2013. These patients' additional characteristics and referral for genetic evaluation were retrieved from the electronic medical records. Patients undergoing inpatient coloboscopy, with confirmed hereditary colorectal cancer (CRC) or inflammatory bowel disease were excluded. All study patients from 2010 to 2013 were matched with the database of the genetics department to determine who consulted a geneticist. A total of 6163 patients underwent colonoscopy from 2010 to 2013. Of 1421 who underwent colonoscopy in 2013, 53 (3.7%) consulted a geneticist, while 75 (1.6%) of 4742 patients undergoing colonoscopy between 2010 and 2012 did so (P history was not recorded in the electronic medical records of 393 (40.3%). In 129 (32.8%), family history was obtained from the completed questionnaire. In 2013, 49 (60.5%) out of 81 patients referred for genetic counseling were referred based on their family history. Eight (9.9%) patients were referred based on the completed questionnaire. Screening for hereditary CRC in a population undergoing outpatient colonoscopy with a questionnaire sent by mail resulted in an increased availability of family histories and genetic counseling. © 2017 Chinese Medical Association Shanghai Branch, Chinese Society of Gastroenterology, Renji Hospital Affiliated to Shanghai Jiaotong University School of Medicine and John Wiley & Sons Australia, Ltd.

Colorectal Cancer in the Family: Psychosocial Distress and Social Issues in the Years Following Genetic Counselling

Directory of Open Access Journals (Sweden)

Bleiker Eveline MA

2007-06-01

Full Text Available Abstract Background This study examined: (1 levels of cancer-specific distress more than one year after genetic counselling for hereditary nonpolyposis colorectal cancer (HNPCC; (2 associations between sociodemographic, clinical and psychosocial factors and levels of distress; (3 the impact of genetic counselling on family relationships, and (4 social consequences of genetic counselling. Methods In this cross-sectional study, individuals who had received genetic counselling for HNPCC during 1986–1998 completed a self-report questionnaire by mail. Results 116 individuals (81% response rate completed the questionnaire, on average 4 years after the last counselling session. Of all respondents, 6% had clinically significant levels of cancer-specific distress (Impact of Event Scale, IES. Having had contact with a professional psychosocial worker for cancer risk in the past 10 years was significantly associated with higher levels of current cancer specific distress. Only a minority of the counselees reported any adverse effects of genetic counselling on: communication about genetic counselling with their children (9%, family relationships (5%, obtaining life insurance (8%, choice or change of jobs (2%, and obtaining a mortgage (2%. Conclusion On average, four years after genetic counselling for HNPCC, only a small minority of counselled individuals reports clinically significant levels of distress, or significant family or social problems.

Meristem identity and phyllotaxis in inflorescence development

Directory of Open Access Journals (Sweden)

Madelaine Elisabeth Bartlett

2014-10-01

Full Text Available Inflorescence morphology is incredibly diverse. This diversity of form has been a fruitful source of inquiry for plant morphologists for more than a century. Work in the grasses (Poaceae, the tomato family (Solanaceae, and Arabidopsis (Brassicaceae has led to a richer understanding of the molecular genetics underlying this diversity. The character of individual meristems, a combination of the number (determinacy and nature (identity of the products a meristem produces, is key in the development of plant form. A framework that describes inflorescence development in terms of shifting meristem identities has emerged and garnered empirical support in a number of model systems. We discuss this framework and highlight one important aspect of meristem identity that is often considered in isolation, phyllotaxis. Phyllotaxis refers to the arrangement of lateral organs around a central axis. The development and evolution of phyllotaxis in the inflorescence remains underexplored, but recent work analyzing early inflorescence development in the grasses identified an evolutionary shift in primary branch phyllotaxis in the Pooideae. We discuss the evidence for an intimate connection between meristem identity and phyllotaxis in both the inflorescence and vegetative shoot, and touch on what is known about the establishment of phyllotactic patterns in the meristem. Localized auxin maxima are instrumental in determining the position of lateral primordia. Upstream factors that regulate the position of these maxima remain unclear, and how phyllotactic patterns change over the course of a plant’s lifetime and evolutionary time, is largely unknown. A more complete understanding of the molecular underpinnings of phyllotaxis and architectural diversity in inflorescences will require capitalizing on the extensive resources available in existing genetic systems, and developing new model systems that more fully represent the diversity of plant morphology.

Meristem identity and phyllotaxis in inflorescence development.

Science.gov (United States)

Bartlett, Madelaine E; Thompson, Beth

2014-01-01

Inflorescence morphology is incredibly diverse. This diversity of form has been a fruitful source of inquiry for plant morphologists for more than a century. Work in the grasses (Poaceae), the tomato family (Solanaceae), and Arabidopsis thaliana (Brassicaceae) has led to a richer understanding of the molecular genetics underlying this diversity. The character of individual meristems, a combination of the number (determinacy) and nature (identity) of the products a meristem produces, is key in the development of plant form. A framework that describes inflorescence development in terms of shifting meristem identities has emerged and garnered empirical support in a number of model systems. We discuss this framework and highlight one important aspect of meristem identity that is often considered in isolation, phyllotaxis. Phyllotaxis refers to the arrangement of lateral organs around a central axis. The development and evolution of phyllotaxis in the inflorescence remains underexplored, but recent work analyzing early inflorescence development in the grasses identified an evolutionary shift in primary branch phyllotaxis in the Pooideae. We discuss the evidence for an intimate connection between meristem identity and phyllotaxis in both the inflorescence and vegetative shoot, and touch on what is known about the establishment of phyllotactic patterns in the meristem. Localized auxin maxima are instrumental in determining the position of lateral primordia. Upstream factors that regulate the position of these maxima remain unclear, and how phyllotactic patterns change over the course of a plant's lifetime and evolutionary time, is largely unknown. A more complete understanding of the molecular underpinnings of phyllotaxis and architectural diversity in inflorescences will require capitalizing on the extensive resources available in existing genetic systems, and developing new model systems that more fully represent the diversity of plant morphology.

Massively parallel sequencing and targeted exomes in familial kidney disease can diagnose underlying genetic disorders.

Science.gov (United States)

Mallett, Andrew J; McCarthy, Hugh J; Ho, Gladys; Holman, Katherine; Farnsworth, Elizabeth; Patel, Chirag; Fletcher, Jeffery T; Mallawaarachchi, Amali; Quinlan, Catherine; Bennetts, Bruce; Alexander, Stephen I

2017-12-01

Inherited kidney disease encompasses a broad range of disorders, with both multiple genes contributing to specific phenotypes and single gene defects having multiple clinical presentations. Advances in sequencing capacity may allow a genetic diagnosis for familial renal disease, by testing the increasing number of known causative genes. However, there has been limited translation of research findings of causative genes into clinical settings. Here, we report the results of a national accredited diagnostic genetic service for familial renal disease. An expert multidisciplinary team developed a targeted exomic sequencing approach with ten curated multigene panels (207 genes) and variant assessment individualized to the patient's phenotype. A genetic diagnosis (pathogenic genetic variant[s]) was identified in 58 of 135 families referred in two years. The genetic diagnosis rate was similar between families with a pediatric versus adult proband (46% vs 40%), although significant differences were found in certain panels such as atypical hemolytic uremic syndrome (88% vs 17%). High diagnostic rates were found for Alport syndrome (22 of 27) and tubular disorders (8 of 10), whereas the monogenic diagnostic rate for congenital anomalies of the kidney and urinary tract was one of 13. Quality reporting was aided by a strong clinical renal and genetic multidisciplinary committee review. Importantly, for a diagnostic service, few variants of uncertain significance were found with this targeted, phenotype-based approach. Thus, use of targeted massively parallel sequencing approaches in inherited kidney disease has a significant capacity to diagnose the underlying genetic disorder across most renal phenotypes. Copyright © 2017 International Society of Nephrology. Published by Elsevier Inc. All rights reserved.

Family support in the transition to adulthood in Portugal--its effects on identity capital development, uncertainty management and psychological well-being.

Science.gov (United States)

Oliveira, José Egídio; Mendonça, Marina; Coimbra, Susana; Fontaine, Anne Marie

2014-12-01

In a familistic southern European society such as the Portuguese, the family has historically played a prominent role in supporting the negotiation of transition pathways into adulthood. The present study aimed at capturing (1) the relative weight of parental financial support and autonomy support in contributing to the youngsters' psychological well-being (PWB), and (2) the mediating role of identity capital and uncertainty management in this relationship. A total of 620 participants completed measures of parental support, identity capital, uncertainty management and PWB. Autonomy support was found to be the strongest predictor of PWB, both directly and indirectly through its effects on identity capital and the use of target focused uncertainty management strategies. Conversely, financial support evidenced only a minor indirect impact through the mediation of tangible identity capital. Autonomy stimulation may constitute one of the most developmentally determinant family challenges in assisting the process of coming of age in Portugal. Copyright © 2014 The Foundation for Professionals in Services for Adolescents. Published by Elsevier Ltd. All rights reserved.

Socializing Identity Through Practice: A Mixed Methods Approach to Family Medicine Resident Perspectives on Uncertainty.

Science.gov (United States)

Ledford, Christy J W; Cafferty, Lauren A; Seehusen, Dean A

2015-01-01

Uncertainty is a central theme in the practice of medicine and particularly primary care. This study explored how family medicine resident physicians react to uncertainty in their practice. This study incorporated a two-phase mixed methods approach, including semi-structured personal interviews (n=21) and longitudinal self-report surveys (n=21) with family medicine residents. Qualitative analysis showed that though residents described uncertainty as an implicit part of their identity, they still developed tactics to minimize or manage uncertainty in their practice. Residents described increasing comfort with uncertainty the longer they practiced and anticipated that growth continuing throughout their careers. Quantitative surveys showed that reactions to uncertainty were more positive over time; however, the difference was not statistically significant. Qualitative and quantitative results show that as family medicine residents practice medicine their perception of uncertainty changes. To reduce uncertainty, residents use relational information-seeking strategies. From a broader view of practice, residents describe uncertainty neutrally, asserting that uncertainty is simply part of the practice of family medicine.

Perceived Parental Acceptance Related to Self-Esteem, GPA, Sex-Role Identity, and Substance Use of Adolescents From Intact and Reconstituted Families

OpenAIRE

Sniteman, Stephen B.

1993-01-01

This investigation assessed the relationship between adolescents of intact families and adolescents in reconstituted families with regard to the effects of perception of parental acceptance on the variables of self-esteem, academic performance, sex role identity, and use o f substances. Observed differences between adolescents of intact and reconstituted families from a structural perspective, eliminating process variables, were also examined. Participants included two hundred fifty-six high ...

Genetics of intellectual disability in consanguineous families.

Science.gov (United States)

Hu, Hao; Kahrizi, Kimia; Musante, Luciana; Fattahi, Zohreh; Herwig, Ralf; Hosseini, Masoumeh; Oppitz, Cornelia; Abedini, Seyedeh Sedigheh; Suckow, Vanessa; Larti, Farzaneh; Beheshtian, Maryam; Lipkowitz, Bettina; Akhtarkhavari, Tara; Mehvari, Sepideh; Otto, Sabine; Mohseni, Marzieh; Arzhangi, Sanaz; Jamali, Payman; Mojahedi, Faezeh; Taghdiri, Maryam; Papari, Elaheh; Soltani Banavandi, Mohammad Javad; Akbari, Saeide; Tonekaboni, Seyed Hassan; Dehghani, Hossein; Ebrahimpour, Mohammad Reza; Bader, Ingrid; Davarnia, Behzad; Cohen, Monika; Khodaei, Hossein; Albrecht, Beate; Azimi, Sarah; Zirn, Birgit; Bastami, Milad; Wieczorek, Dagmar; Bahrami, Gholamreza; Keleman, Krystyna; Vahid, Leila Nouri; Tzschach, Andreas; Gärtner, Jutta; Gillessen-Kaesbach, Gabriele; Varaghchi, Jamileh Rezazadeh; Timmermann, Bernd; Pourfatemi, Fatemeh; Jankhah, Aria; Chen, Wei; Nikuei, Pooneh; Kalscheuer, Vera M; Oladnabi, Morteza; Wienker, Thomas F; Ropers, Hans-Hilger; Najmabadi, Hossein

2018-01-04

Autosomal recessive (AR) gene defects are the leading genetic cause of intellectual disability (ID) in countries with frequent parental consanguinity, which account for about 1/7th of the world population. Yet, compared to autosomal dominant de novo mutations, which are the predominant cause of ID in Western countries, the identification of AR-ID genes has lagged behind. Here, we report on whole exome and whole genome sequencing in 404 consanguineous predominantly Iranian families with two or more affected offspring. In 219 of these, we found likely causative variants, involving 77 known and 77 novel AR-ID (candidate) genes, 21 X-linked genes, as well as 9 genes previously implicated in diseases other than ID. This study, the largest of its kind published to date, illustrates that high-throughput DNA sequencing in consanguineous families is a superior strategy for elucidating the thousands of hitherto unknown gene defects underlying AR-ID, and it sheds light on their prevalence.

[Genetic and environmental contribution to rheumatoid arthritis: a family study].

Science.gov (United States)

Iebba, Filippo; Di Sora, Fiorella; Leti, Wilma; Montella, Tatiana; Montella, Francesco

2012-01-01

We report on the HLA typing of three brothers (A, B, C) with rheumatoid arthritis (RA) and their six sons. This family is interesting for the full concordance for RA between parents. The aim of this study was the discovery of genetic and/or enviromental cofactors determining this absolute concordance.

Familial ethnic socialization, gender role attitudes, and ethnic identity development in Mexican-origin early adolescents.

Science.gov (United States)

Sanchez, Delida; Whittaker, Tiffany A; Hamilton, Emma; Arango, Sarah

2017-07-01

This study examined the relations between familial ethnic socialization and ethnic identity development in 438 Mexican-origin (n = 242 boys and n = 196 girls) preadolescents. In addition, machismo and marianismo gender role attitudes were examined as potential mediators in this link. Confirmatory factor analyses (CFA) of the Familial Ethnic Socialization Scale (FES), Machismo Measure (MM), Marianismo Beliefs Scale (MBS), and the Ethnic Identity Brief Scale (EISB) were conducted to test the factor structure with a preadolescent Mexican-origin sample. Separate path analyses of analytic models were then performed on boys and girls. Results of the CFAs for survey measures revealed that for the FES, a 1-factor version indicated acceptable fit; for the MM, the original 2-factor structure indicated acceptable model fit; for the MBS, a revised 3-factor version indicated acceptable model fit; and, for the EISB, the affirmation and resolution dimensions showed acceptable fit. Among boys, FES was significantly and positively linked to caballerismo, and EISB affirmation and resolution; furthermore, the links between FES and EISB affirmation and resolution were indirectly connected by caballerismo. In addition, traditional machismo was negatively linked to EISB affirmation, and caballerismo was positively linked to EISB affirmation and resolution. Among girls, FES was significantly and positively related to the MBS-virtuous/chaste pillar, and EISB affirmation and resolution. The MBS-subordinate to others pillar was negatively linked to EISB affirmation. This study underscores the importance of FES and positive gender role attitudes in the link to ethnic identity development among Mexican-origin preadolescents. (PsycINFO Database Record (c) 2017 APA, all rights reserved).

Genetic and familial predisposition to rotator cuff disease: a systematic review.

Science.gov (United States)

Dabija, Dominique I; Gao, Chan; Edwards, Todd L; Kuhn, John E; Jain, Nitin B

2017-06-01

Rotator cuff disease is a common disorder leading to shoulder pain and loss of function. Its etiology in atraumatic cases is uncertain and is likely to extend beyond repetitive microtrauma or overuse. Our objective was to determine whether there is a genetic or familial predisposition to rotator cuff disease. A literature search of PubMed and Embase databases identified 251 citations. After review of the titles, abstracts, and full articles, 7 met our inclusion and exclusion criteria. Four studies assessed familial predisposition to rotator cuff disease. One of these demonstrated that siblings of an individual with a rotator cuff tear were more likely to develop a full-thickness tear and more likely to be symptomatic. A 5-year follow-up showed that the relative risks were increased for the siblings to have a full-thickness tear, for a tear to progress in size, and for being symptomatic. Another study demonstrated that a significantly higher number of individuals with tears had family members with a history of tears or surgery than those without tears did. The other 3 studies investigated whether a genetic predisposition to rotator cuff disease exists and found significant association of haplotypes in DEFB1, FGFR1, FGF3, ESRRB, and FGF10 and 2 single-nucleotide polymorphisms within SAP30BP and SASH1. Prior studies provide preliminary evidence for genetic and familial predisposition to rotator cuff disease. However, there is a lack of large genome-wide studies that can provide more definitive information and guide early detection of individuals at risk, prophylactic rehabilitation, and potential gene therapies and regenerative medicine interventions. Copyright © 2016 Journal of Shoulder and Elbow Surgery Board of Trustees. Published by Elsevier Inc. All rights reserved.

Genetic identity and differential gene expression between Trichomonas vaginalis and Trichomonas tenax

Directory of Open Access Journals (Sweden)

Mundodi Vasanthakrishna

2009-03-01

Full Text Available Abstract Background Trichomonas vaginalis is a human urogenital pathogen responsible for trichomonosis, the number-one, non-viral sexually transmitted disease (STD worldwide, while T. tenax is a commensal of the human oral cavity, found particularly in patients with poor oral hygiene and advanced periodontal disease. The extent of genetic identity between T. vaginalis and its oral commensal counterpart is unknown. Results Genes that were differentially expressed in T. vaginalis were identified by screening three independent subtraction cDNA libraries enriched for T. vaginalis genes. The same thirty randomly selected cDNA clones encoding for proteins with specific functions associated with colonization were identified from each of the subtraction cDNA libraries. In addition, a T. vaginalis cDNA expression library was screened with patient sera that was first pre-adsorbed with an extract of T. tenax antigens, and seven specific cDNA clones were identified from this cDNA library. Interestingly, some of the clones identified by the subtraction cDNA screening were also obtained from the cDNA expression library with the pre-adsorbed sera. Moreover and noteworthy, clones identified by both the procedures were found to be up-regulated in expression in T. vaginalis upon contact with vaginal epithelial cells, suggesting a role for these gene products in host colonization. Semi-quantitative RT-PCR analysis of select clones showed that the genes were not unique to T. vaginalis and that these genes were also present in T. tenax, albeit at very low levels of expression. Conclusion These results suggest that T. vaginalis and T. tenax have remarkable genetic identity and that T. vaginalis has higher levels of gene expression when compared to that of T. tenax. The data may suggest that T. tenax could be a variant of T. vaginalis.

Personal Narratives of Genetic Testing: Expectations, Emotions, and Impact on Self and Family.

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Anderson, Emily E; Wasson, Katherine

2015-01-01

The stories in this volume shed light on the potential of narrative inquiry to fill gaps in knowledge, particularly given the mixed results of quantitative research on patient views of and experiences with genetic and genomic testing. Published studies investigate predictors of testing (particularly risk perceptions and worry); psychological and behavioral responses to testing; and potential impact on the health care system (e.g., when patients bring DTC genetic test results to their primary care provider). Interestingly, these themes did not dominate the narratives published in this issue. Rather, these narratives included consistent themes of expectations and looking for answers; complex emotions; areas of contradiction and conflict; and family impact. More narrative research on patient experiences with genetic testing may fill gaps in knowledge regarding how patients define the benefits of testing, changes in psychological and emotional reactions to test results over time, and the impact of testing on families.

Genetic link between family socioeconomic status and children's educational achievement estimated from genome-wide SNPs.

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Krapohl, E; Plomin, R

2016-03-01

One of the best predictors of children's educational achievement is their family's socioeconomic status (SES), but the degree to which this association is genetically mediated remains unclear. For 3000 UK-representative unrelated children we found that genome-wide single-nucleotide polymorphisms could explain a third of the variance of scores on an age-16 UK national examination of educational achievement and half of the correlation between their scores and family SES. Moreover, genome-wide polygenic scores based on a previously published genome-wide association meta-analysis of total number of years in education accounted for ~3.0% variance in educational achievement and ~2.5% in family SES. This study provides the first molecular evidence for substantial genetic influence on differences in children's educational achievement and its association with family SES.

Ethnic, Familial, and Religious Identity of Roma Adolescents in Bulgaria, Czech Republic, Kosovo, and Romania in Relation to Their Level of Well-Being

NARCIS (Netherlands)

Dimitrova, Radosveta; van de Vijver, Fons J. R.; Tausova, Jitka; Chasiotis, Athanasios; Bender, Michael; Buzea, Carmen; Uka, Fitim; Tair, Ergyul

2017-01-01

This study examines ethnic, national, familial, and religious identity and well-being of 632 Roma minority and 589 majority adolescents (age: M = 15.98 years, SD = 1.34) in Bulgaria, the Czech Republic, Kosovo, and Romania. Results indicated that Roma showed lower endorsement of national identity

Genetic and environmental influences on the relationships between family connectedness, school connectedness, and adolescent depressed mood: sex differences.

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Jacobson, K C; Rowe, D C

1999-07-01

This study investigated (a) genetic and environmental contributions to the relationship between family and school environment and depressed mood and (b) potential sex differences in genetic and environmental contributions to both variation in and covariation between family connectedness, school connectedness, and adolescent depressed mood. Data are from 2,302 adolescent sibling pairs (mean age = 16 years) who were part of the National Longitudinal Study of Adolescent Health. Although genetic factors appeared to be important overall, model-fitting analyses revealed that the best-fitting model was a model that allowed for different parameters for male and female adolescents. Genetic contributions to variation in all 3 variables were greater among female adolescents than male adolescents, especially for depressed mood. Genetic factors also contributed to the correlations between family and school environment and adolescent depressed mood, although, again, these factors were stronger for female than for male adolescents.

Exploring the Relationships between White Racial Consciousness, Feminist Identity Development and Family Environment for White Undergraduate Women

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Wolff, Kara E.; Munley, Patrick H.

2012-01-01

A sample of 394 White undergraduate females completed a demographic questionnaire and three assessment measures: the Oklahoma Racial Attitudes Scale-Revised (ORAS-R) (Vandiver & Leach, 2005), the Feminist Identity Composite (FIC) (Fischer et. al., 2000) and the Family Environment Scale-Real Form (FES-R) (Moos & Moos, 1974, 1994, 2002). Four…

Implications for cancer genetics practice of pro-actively assessing family history in a General Practice cohort in North West London.

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Kohut, Kelly; D'Mello, Lucia; Bancroft, Elizabeth K; Thomas, Sarah; Young, Mary-Anne; Myhill, Kathryn; Shanley, Susan; Briggs, Brian H J; Newman, Michelle; Saraf, Ifthikhar M; Cox, Penny; Scambler, Sarah; Wagman, Lyndon; Wyndham, Michael T; Eeles, Rosalind A; Ferris, Michelle

2012-03-01

At present cancer genetics referrals are reactive to individuals asking for a referral and providing a family history thereafter. A previous pilot study in a single General Practice (GP) catchment area in North London showed a 1.5-fold increase in breast cancer risk in the Ashkenazi Jewish population compared with the non-Ashkenazi mixed population. The breast cancer incidence was equal in the Ashkenazim in both pre- and postmenopausal groups. We wanted to investigate the effect of proactively seeking family history data from the entire female population of the practice to determine the effect on cancer genetics referral. Objectives To determine the need for cancer genetics intervention for women in a single GP catchment area. (1) to determine the incidence and strength of family history of cancer in women aged over 18 in the practice, (2) to offer cancer genetics advice and determine the uptake of counselling in those with a positive family history, (3) to identify potential BRCA1/BRCA2 gene mutation carriers who can be offered clinical follow up with appropriate translational research studies. Design Population-based cohort study of one General Practice female population. Participants Three hundred and eighty-three women over the age of 18 from one General Practice who responded to a questionnaire about family history of cancer. The whole female adult GP population was the target and the total number sampled was 3,820. Results 10% of patients completed the questionnaire (n = 383). A family history of cancer was present in 338 cases, 95 went on to have genetic counselling or had previously had counselling and 47 were genetically tested. We identified three carriers of an Ashkenazi Jewish founder mutation in BRCA1. Conclusions Response rate to a family history questionnaire such as that used in genetics centres was low (10%) and other approaches will be needed to proactively assess family history. Although the Ashkenazim are present in 39% of the GP catchment

Genetic diagnosis of familial hypercholesterolemia using a DNA-array based platform

NARCIS (Netherlands)

Alonso, Rodrigo; Defesche, Joep C.; Tejedor, Diego; Castillo, Sergio; Stef, Marianne; Mata, Nelva; Gomez-Enterria, Pilar; Martinez-Faedo, Ceferino; Forga, Lluis; Mata, Pedro

2009-01-01

The aim of this study was to validate the Lipochip genetic diagnostic platform by assessing effectiveness, sensitivity, specificity and costs for the identification of patients with familial hypercholesterolemia (FH) in Spain. This platform includes the use of a DNA micro array, the detection of

Using a genetic test result in the care of family members: how does the duty of confidentiality apply?

Science.gov (United States)

Parker, Michael; Lucassen, Anneke

2018-04-27

The use of genetic and genomic testing is becoming more widespread in healthcare and more inherited explanations for family history of diseases or conditions are being uncovered. Currently, relevant genetic information is not always used in the care of family members who might benefit from it, because of health professionals' fears of inappropriately breaching another family member's confidence. Such examples are likely to increase as testing possibilities expand. Here we present the case for use of familial information in the care and treatment of family members. We argue that whilst a clinical diagnosis in person A is confidential, the discovery of a familial factor that led to this diagnosis should be available for use in depersonalised form by health professionals to inform the testing and clinical care of other family members. The possibility of such use should be made clear in clinical practice at the time of initial testing, but should not require consent from the person in whom the familial factor was first identified. We call for further debate on these questions in the wake of high profile non-disclosure of genetic information cases, and forthcoming Data Protection legislation changes.

Prenatal genetic counseling in cross-cultural medicine: A framework for family physicians.

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Bhogal, Ashvinder K; Brunger, Fern

2010-10-01

To help family physicians practise effective genetic counseling and offer practical strategies for cross-cultural communication in the context of prenatal genetic counseling. PubMed and the Cochrane Database of Systematic Reviews were searched. Most evidence was level II and some was level III. The values and beliefs of practitioners, no less than those of patients, are shaped by culture. In promoting a patient's best interest, the assumptions of both the patient and the provider must be held up for examination and discussed in the attempt to arrive at a consensus. Through the explicit discussion and formation of trust, the health professionals, patients, and family members who are involved can develop a shared understanding of appropriate therapeutic goals and methods. Reflecting on the cultural nature of biomedicine's ideas about risk, disability, and normality helps us to realize that there are many valid interpretations of what is in a patient's best interest. Self-reflection helps to ensure that respectful communication with the specific family and patient is the basis for health care decisions. Overall, this helps to improve the quality of care.

Family caregiver distress with children having rare genetic disorders: a qualitative study involving Russell-Silver Syndrome in Taiwan.

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Weng, Hsin-Ju; Niu, Dau-Ming; Turale, Sue; Tsao, Lee-Ing; Shih, Fu-Jong; Yamamoto-Mitani, Noriko; Chang, Chun-Chi; Shih, Fu-Jin

2012-01-01

To extend nursing knowledge of distress experienced by family caregivers of children with rare genetic disorders, by exploring the perspectives of caregivers of children with Russell-Silver Syndrome in Taiwan. Caring for a child with a rare genetic disorder often has profound effects on families, especially when diagnosis and treatment is complex or not yet well developed, such as that in Russell-Silver Syndrome (or Silver-Russell syndrome). This disorder causes dwarfism and developmental difficulties, requiring long-term care planning. Previous research has focused mostly on medical care, but little is known about families' perspectives of caring difficulties, the help they need and nursing care required. An exploratory qualitative approach was used to inform this study. Family caregivers, whose children were undergoing medical care in a leading Taiwan medical centre, were invited to participate in face-to-face, in-depth interviews. Data were analysed by content analysis. Fifteen caregivers including 11 mothers, two fathers and two grandmothers participated. Five major themes and 13 sub-themes of care-giving distress were identified: endless psychological worries; the lengthy process to confirm a medical diagnosis; adjustment efforts in modifying family roles; dilemmas in deciding between Western or Chinese traditional medicine; and negative responses to society's concerns. Their primary sources of support were spouses, parents and health professionals, accordingly. Complex physio-psycho-social and decision-making distress in caring for children with a rare genetic disorder were systematically revealed from the perspectives of ethnic-Chinese family caregivers. Long-term care plans for children with a rare genetic disorder such as Russell-Silver Syndrome need to focus on positive dynamic family interactions, life-stage development and family caregiver support. Research on care-giving in rare genetic disorders is also warranted across cultures and countries to

Molecular genetics of a Chinese family with spinocerebellar ataxia

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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

Digital phenotyping for quantification of genetic diversity in inbred guava (Psidium guajava) families.

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Krause, W; Viana, A P; Cavalcante, N R; Ambrósio, M; Santos, E A; Vieira, H D

2017-03-22

Digital image analysis of seeds has been used for the identification of cultivars, determination of seed color and mechanical damage, and classification of different seed sizes. The aim of the present study was to evaluate the efficiency of digital image analysis of seeds for the quantification of genetic diversity among genotypes of inbred guava (Psidium guajava L.) families. The SAS Mini equipment, which consists of a capture module and a software program for analysis, was employed for the capture and analysis of the seed images. Different genetic diversity quantification strategies were tested using the Ward-Modified Location Model method. The set of variables related to geometry of the seeds was the largest contributor to divergence among the guava genotypes. The use of seed descriptors obtained by digital image analysis via the SAS system was efficient at quantifying the genetic diversity among genotypes of inbred guava families associated with the use of the Ward-Modified Location Model method.

Prioritizing schizophrenia endophenotypes for future genetic studies: An example using data from the COGS-1 family study.

Science.gov (United States)

Millard, Steven P; Shofer, Jane; Braff, David; Calkins, Monica; Cadenhead, Kristin; Freedman, Robert; Green, Michael F; Greenwood, Tiffany A; Gur, Raquel; Gur, Ruben; Lazzeroni, Laura C; Light, Gregory A; Olincy, Ann; Nuechterlein, Keith; Seidman, Larry; Siever, Larry; Silverman, Jeremy; Stone, William S; Sprock, Joyce; Sugar, Catherine A; Swerdlow, Neal R; Tsuang, Ming; Turetsky, Bruce; Radant, Allen; Tsuang, Debby W

2016-07-01

Past studies describe numerous endophenotypes associated with schizophrenia (SZ), but many endophenotypes may overlap in information they provide, and few studies have investigated the utility of a multivariate index to improve discrimination between SZ and healthy community comparison subjects (CCS). We investigated 16 endophenotypes from the first phase of the Consortium on the Genetics of Schizophrenia, a large, multi-site family study, to determine whether a subset could distinguish SZ probands and CCS just as well as using all 16. Participants included 345 SZ probands and 517 CCS with a valid measure for at least one endophenotype. We used both logistic regression and random forest models to choose a subset of endophenotypes, adjusting for age, gender, smoking status, site, parent education, and the reading subtest of the Wide Range Achievement Test. As a sensitivity analysis, we re-fit models using multiple imputations to determine the effect of missing values. We identified four important endophenotypes: antisaccade, Continuous Performance Test-Identical Pairs 3-digit version, California Verbal Learning Test, and emotion identification. The logistic regression model that used just these four endophenotypes produced essentially the same results as the model that used all 16 (84% vs. 85% accuracy). While a subset of endophenotypes cannot replace clinical diagnosis nor encompass the complexity of the disease, it can aid in the design of future endophenotypic and genetic studies by reducing study cost and subject burden, simplifying sample enrichment, and improving the statistical power of locating those genetic regions associated with schizophrenia that may be the easiest to identify initially. Published by Elsevier B.V.

Keloid Scarring: Understanding the Genetic Basis, Advances, and Prospects

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Ahmad Sukari Halim

2012-05-01

Full Text Available Keloid disease is a fibroproliferative dermal tumor with an unknown etiology that occurs after a skin injury in genetically susceptible individuals. Increased familial aggregation, a higher prevalence in certain races, parallelism in identical twins, and alteration in gene expression all favor a remarkable genetic contribution to keloid pathology. It seems that the environment triggers the disease in genetically susceptible individuals. Several genes have been implicated in the etiology of keloid disease, but no single gene mutation has thus far been found to be responsible. Therefore, a combination of methods such as association, gene-gene interaction, epigenetics, linkage, gene expression, and protein analysis should be applied to determine keloid etiology.

Consistency of genetic inheritance mode and heritability patterns of triglyceride vs. high density lipoprotein cholesterol ratio in two Taiwanese family samples

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Yang Chi-Yu

2003-04-01

Full Text Available Abstract Background Triglyceride/HDL cholesterol ratio (TG/HDL-C is considered as a risk factor for cardiovascular events. Genetic components were important in controlling the variation in western countries. But the mode of inheritance and family aggregation patterns were still unknown among Asian-Pacific countries. This study, based on families recruited from community and hospital, is aimed to investigate the mode of inheritance, heritability and shared environmental factors in controlling TG/HDL-C. Results Two populations, one from community-based families (n = 988, 894 parent-offspring and 453 sibling pairs and the other from hospital-based families (n = 1313, 76 parent-offspring and 52 sibling pairs were sampled. The population in hospital-based families had higher mean age values than community-based families (54.7 vs. 34.0. Logarithmic transformed TG/ HDL-C values, after adjusted by age, gender and body mass index, were for genetic analyses. Significant parent-offspring and sibling correlations were also found in both samples. The parent-offspring correlation coefficient was higher in the hospital-based families than in the community-based families. Genetic heritability was higher in community-based families (0.338 ± 0.114, p = 0.002, but the common shared environmental factor was higher in hospital-based families (0.203 ± 0.042, p Conclusion Variations of TG/HDL-C in the normal ranges were likely to be influenced by multiple factors, including environmental and genetic components. Higher genetic factors were proved in younger community-based families than in older hospital-based families.

Familial Atypical Hemolytic Uremic Syndrome: A Review of Its Genetic and Clinical Aspects

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Fengxiao Bu

2012-01-01

Full Text Available Atypical hemolytic uremic syndrome (aHUS is a rare renal disease (two per one million in the USA characterized by microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Both sporadic (80% of cases and familial (20% of cases forms are recognized. The study of familial aHUS has implicated genetic variation in multiple genes in the complement system in disease pathogenesis, helping to define the mechanism whereby complement dysregulation at the cell surface level leads to both sporadic and familial disease. This understanding has culminated in the use of Eculizumab as first-line therapy in disease treatment, significantly changing the care and prognosis of affected patients. However, even with this bright outlook, major challenges remain to understand the complexity of aHUS at the genetic level. It is possible that a more detailed picture of aHUS can be translated to an improved understanding of disease penetrance, which is highly variable, and response to therapy, both in the short and long terms.

Ethnic Identity, Bicultural Identity Integration, and Psychological Well-Being among Transracial Adoptees: A Longitudinal Study

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Ferrari, Laura; Rosnati, Rosa; Manzi, Claudia; Benet-Martínez, Verònica

2015-01-01

The ethnic identity development plays a crucial role in adolescence and emerging adulthood and may be more complex for adoptees who do not share their ethnic identity with their adoptive families. Evidence from the studies was mixed, with strong ethnic identity not always found to be indicative of improved psychological adjustment. Recently…

Beyond the genetic basis of sensation seeking: The influence of birth order, family size and parenting styles

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Feij, Jan A,

2010-12-01

Full Text Available Genetic analyses of sensation seeking have shown fairly high heritabilities for measures of this trait. However, 40 to 60% of the variance remains unexplained by genetic factors. This longitudinal study examines the influence of characteristics of the family environment -- birth order, family size, socio-economic status and parenting styles -- on two dimensions of sensation seeking: disinhibition and boredom susceptibility. Previous research has shown that these dimensions load on the same factor, are related to biologically based impulsive disorders, and have a common genetic basis. Questionnaire and biographical data obtained from 532 female and 479 male young adults (age between 18 and 30 years were analyzed using structural modeling. The results show that participants who experienced little parental care and much control were more likely to have high scores on disinhibition and boredom susceptibility. It appears that these family factors may partly explain the previously reported effects of birth order and family size on sensation seeking.

Clinical and genetic characterization of classical forms of familial adenomatous polyposis: a Spanish population study.

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Rivera, B; González, S; Sánchez-Tomé, E; Blanco, I; Mercadillo, F; Letón, R; Benítez, J; Robledo, M; Capellá, G; Urioste, M

2011-04-01

Classical familial adenomatous polyposis (FAP) is characterized by the appearance of >100 colorectal adenomas. We screened the APC and MUTYH genes for mutations and evaluated the genotype-phenotype correlation in 136 Spanish classical FAP families. APC/MUTYH mutations were detected in 107 families. Sixty-four distinct APC point mutations were detected in 95 families of which all were truncating mutations. A significant proportion (39.6%) had not been previously reported. Mutations were spread over the entire coding region and great rearrangements were identified in six families. Another six families exhibited biallelic MUTYH mutations. No APC or MUTYH mutations were detected in 29 families. These APC/MUTYH-negative families showed clinical differences with the APC-positive families. A poor correlation between phenotype and mutation site was observed. Our results highlight that a broad approach in the genetic study must be considered for classical FAP due to involvement of both APC and MUTYH and the heterogeneous spectrum of APC mutations observed in this Spanish population. The scarcely consistent genotype-phenotype correlation does not allow making specific recommendations regarding screening and management. Differences observed in APC/MUTYH-negative families may reflect a genetic basis other than mutations in APC and MUTYH genes for FAP predisposition. © The Author 2010. Published by Oxford University Press on behalf of the European Society for Medical Oncology.

Staphylococcus aureus surface contamination of mobile phones and presence of genetically identical strains on the hands of nursing personnel.

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Katsuse Kanayama, Akiko; Takahashi, Hiroshi; Yoshizawa, Sadako; Tateda, Kazuhiro; Kaneko, Akihiro; Kobayashi, Intetsu

2017-08-01

We investigated the genetic relatedness of Staphylococcus aureus isolates recovered from mobile phones and palms and fingers of users. Genetically identical isolates were detected from mobile phones and their user and multiple users, which is consistent with mobile phones serving as reservoirs of infection in the health care environment. These findings reinforce the need for hand hygiene prior to patient contact as the most effective intervention for preventing health care-associated infection. Copyright © 2017 Association for Professionals in Infection Control and Epidemiology, Inc. Published by Elsevier Inc. All rights reserved.

A Mathematical Model for Scheduling a Batch Processing Machine with Multiple Incompatible Job Families, Non-identical Job dimensions, Non-identical Job sizes, Non-agreeable release times and due dates

International Nuclear Information System (INIS)

Ramasubramaniam, M; Mathirajan, M

2013-01-01

The paper addresses the problem scheduling a batch processing machine with multiple incompatible job families, non-identical job dimensions, non-identical job sizes and non-agreeable release dates to minimize makespan. The research problem is solved by proposing a mixed integer programming model that appropriately takes into account the parameters considered in the problem. The proposed is validated using a numerical example. The experiment conducted show that the model can pose significant difficulties in solving the large scale instances. The paper concludes by giving the scope for future work and some alternative approaches one can use for solving these class of problems.

Social-group identity and population substructure in admixed populations in New Mexico and Latin America.

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Meghan E Healy

Full Text Available We examined the relationship between continental-level genetic ancestry and racial and ethnic identity in an admixed population in New Mexico with the goal of increasing our understanding of how racial and ethnic identity influence genetic substructure in admixed populations. Our sample consists of 98 New Mexicans who self-identified as Hispanic or Latino (NM-HL and who further categorized themselves by race and ethnic subgroup membership. The genetic data consist of 270 newly-published autosomal microsatellites from the NM-HL sample and previously published data from 57 globally distributed populations, including 13 admixed samples from Central and South America. For these data, we 1 summarized the major axes of genetic variation using principal component analyses, 2 performed tests of Hardy Weinberg equilibrium, 3 compared empirical genetic ancestry distributions to those predicted under a model of admixture that lacked substructure, 4 tested the hypotheses that individuals in each sample had 100%, 0%, and the sample-mean percentage of African, European, and Native American ancestry. We found that most NM-HL identify themselves and their parents as belonging to one of two groups, conforming to a region-specific narrative that distinguishes recent immigrants from Mexico from individuals whose families have resided in New Mexico for generations and who emphasize their Spanish heritage. The "Spanish" group had significantly lower Native American ancestry and higher European ancestry than the "Mexican" group. Positive FIS values, PCA plots, and heterogeneous ancestry distributions suggest that most Central and South America admixed samples also contain substructure, and that this substructure may be related to variation in social identity. Genetic substructure appears to be common in admixed populations in the Americas and may confound attempts to identify disease-causing genes and to understand the social causes of variation in health outcomes

Remediating Viking Origins: Genetic Code as Archival Memory of the Remote Past.

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Scully, Marc; King, Turi; Brown, Steven D

2013-10-01

This article introduces some early data from the Leverhulme Trust-funded research programme, 'The Impact of the Diasporas on the Making of Britain: evidence, memories, inventions'. One of the interdisciplinary foci of the programme, which incorporates insights from genetics, history, archaeology, linguistics and social psychology, is to investigate how genetic evidence of ancestry is incorporated into identity narratives. In particular, we investigate how 'applied genetic history' shapes individual and familial narratives, which are then situated within macro-narratives of the nation and collective memories of immigration and indigenism. It is argued that the construction of genetic evidence as a 'gold standard' about 'where you really come from' involves a remediation of cultural and archival memory, in the construction of a 'usable past'. This article is based on initial questionnaire data from a preliminary study of those attending DNA collection sessions in northern England. It presents some early indicators of the perceived importance of being of Viking descent among participants, notes some emerging patterns and considers the implications for contemporary debates on migration, belonging and local and national identity.

Integration of sequence data from a Consanguineous family with genetic data from an outbred population identifies PLB1 as a candidate rheumatoid arthritis risk gene.

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Yukinori Okada

Full Text Available Integrating genetic data from families with highly penetrant forms of disease together with genetic data from outbred populations represents a promising strategy to uncover the complete frequency spectrum of risk alleles for complex traits such as rheumatoid arthritis (RA. Here, we demonstrate that rare, low-frequency and common alleles at one gene locus, phospholipase B1 (PLB1, might contribute to risk of RA in a 4-generation consanguineous pedigree (Middle Eastern ancestry and also in unrelated individuals from the general population (European ancestry. Through identity-by-descent (IBD mapping and whole-exome sequencing, we identified a non-synonymous c.2263G>C (p.G755R mutation at the PLB1 gene on 2q23, which significantly co-segregated with RA in family members with a dominant mode of inheritance (P = 0.009. We further evaluated PLB1 variants and risk of RA using a GWAS meta-analysis of 8,875 RA cases and 29,367 controls of European ancestry. We identified significant contributions of two independent non-coding variants near PLB1 with risk of RA (rs116018341 [MAF = 0.042] and rs116541814 [MAF = 0.021], combined P = 3.2 × 10(-6. Finally, we performed deep exon sequencing of PLB1 in 1,088 RA cases and 1,088 controls (European ancestry, and identified suggestive dispersion of rare protein-coding variant frequencies between cases and controls (P = 0.049 for C-alpha test and P = 0.055 for SKAT. Together, these data suggest that PLB1 is a candidate risk gene for RA. Future studies to characterize the full spectrum of genetic risk in the PLB1 genetic locus are warranted.

On an extension of a combinatorial identity

Indian Academy of Sciences (India)

to an infinite family of 4-way combinatorial identities. In some particular cases we get even 5-way combinatorial identities which give us four new combinatorial versions of. Göllnitz–Gordon identities. Keywords. n-Color partitions; lattice paths; Frobenius partitions; Göllnitz–Gordon identities; combinatorial interpretations. 1.

Challenging Medical-Legal Norms: The Role of Autonomy, Confidentiality and Privacy in Protecting Individual and Familial Group Rights in Genetic Information

OpenAIRE

Laurie, Graeme

2001-01-01

In this article, Laurie discusses the impact of generating genetic information, and what the consequences are of this for individuals, and family members, whose familial genetic information is shared. The authors considers who controls access to such information, the rights and interests that arise from a group claim to familial data. The competing "right to know" versus "the right not to know" are examined in relation to genetic data, along with the role of confidentiality and autonomy. Fi...

Genetic screening of EXT1 and EXT2 in Cypriot families with ...

Indian Academy of Sciences (India)

RESEARCH NOTE. Genetic screening of EXT1 and EXT2 in Cypriot families with hereditary .... on samples from the HMO patient's parents in an attempt to establish .... Intragenic deletions involving single or multiple EXT1 or. EXT2 exons are ...

Beyond the genetic basis of sensation seeking: The influence of birth order, family size and parenting styles

OpenAIRE

Feij, Jan A,; Taris, Toon W.

2010-01-01

Genetic analyses of sensation seeking have shown fairly high heritabilities for measures of this trait. However, 40 to 60% of the variance remains unexplained by genetic factors. This longitudinal study examines the influence of characteristics of the family environment -- birth order, family size, socio-economic status and parenting styles -- on two dimensions of sensation seeking: disinhibition and boredom susceptibility. Previous research has shown that these dimensions load on the same fa...

Population specific genetic heterogeneity of familial hypercholesterolemia in South Africa.

Science.gov (United States)

Smyth, Natalie; Ramsay, Michèle; Raal, Frederick J

2018-04-01

To describe the prevalence and population-specific genetic heterogeneity of familial hypercholesterolemia in South Africa. This review highlights the paucity of data on familial hypercholesterolemia in South Africa, and the urgent need to uncover the mutation profiles in lipid-associated genes, causing an increase in LDL-cholesterol in the different ethnic groups. Case reports and small studies have shown that familial hypercholesterolemia, although apparently uncommon, is present in black Africans. Local founder effects have led to an increased prevalence of familial hypercholesterolemia in several South African populations: Afrikaner founder mutations (c.681 C>G, c.1285 G>A, c.523 G>A), Ashkenazi founder mutation (c.654_656del) and possible Indian founder mutation (c.2054 C>T). Preliminary data in black Africans with elevated LDL-cholesterol identified a possible common mutation, c.137_142del. The South African multiethnic society and well described founder effects emphasize the need for differential approaches to diagnosis and management of familial hypercholesterolemia. Studies involving larger cohorts and inclusive of different ethnicities are paramount to establishing an accurate prevalence of familial hypercholesterolemia in black Africans, not only in South Africa but in the Sub-Saharan African region. It is clear that the estimated world prevalence of one in 250 cannot be generally applied across African populations.

Honoring Identity Through Mealtimes in Chinese Canadian Immigrants.

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Lam, Ivy T Y; Keller, Heather H

2015-11-01

Mealtimes are opportunities for social interactions and expressions of individual and family identity, and serve as a microcosm of the broader lives of families living with dementia. The Eating Together study and its resulting Life Nourishment Theory (LNT) explicated the importance of mealtimes for honouring individual and family identities in the context of dementia. This sub-study examined a specific ethnocultural group with cultural food-ways and caring expectations, to determine if the concept of honouring identity needed to be modified or extended. Using active interview techniques, two Cantonese speaking researchers completed dyad/triad family and individual interviews with six Chinese Canadian immigrant families, recruited from two service providers in a large, urban, multicultural city. This sub-study provided insight into the challenges and rewards of mealtimes for Chinese immigrant families with dementia in the community and specifically provided further insights into the honouring identity concept. Although LNT and specifically the honouring identity concept was generally confirmed in this group, some culturally-specific themes were also identified. This work serves as a basis for future studies examining the meaning and experience of mealtimes in specific cultural groups living with dementia. Such work would confirm if the LNT can be applied to specific ethnocultural groups as well as the general population living with dementia. © The Author(s) 2012.

Involvement of genetic variants associated with primary open-angle glaucoma in pathogenic mechanisms and family history of glaucoma.

Science.gov (United States)

Mabuchi, Fumihiko; Sakurada, Yoichi; Kashiwagi, Kenji; Yamagata, Zentaro; Iijima, Hiroyuki; Tsukahara, Shigeo

2015-03-01

To investigate the associations between the non-intraocular pressure (IOP)-related genetic variants (genetic variants associated with vulnerability of the optic nerve independent of IOP) and primary open-angle glaucoma (POAG), including normal-tension glaucoma (NTG) and high-tension glaucoma (HTG), and between the non-IOP-related genetic variants and a family history of glaucoma. Case-control study. Japanese patients with NTG (n = 213) and HTG (n = 212) and 191 control subjects were genotyped for 5 non-IOP-related genetic variants predisposing to POAG near the SRBD1, ELOVL5, CDKN2B/CDKN2B-AS1, SIX1/SIX6, and ATOH7 genes. The load of these genetic variants was compared between the control subjects and patients with NTG or HTG and between the POAG patients with and without a family history of glaucoma. The total number of POAG risk alleles and the product of the odds ratios (POAG risk) of these genetic variants were significantly larger (P product of the odds ratios increased (P = .012 and P = .047, respectively). Non-IOP-related genetic variants contribute to the pathogenesis of HTG as well as NTG. A positive family history of glaucoma in cases of POAG is thought to reflect the influence of genetic variants predisposing to POAG. Copyright © 2015 Elsevier Inc. All rights reserved.

Genetic Heterogeneity of Usher Syndrome: Analysis of 151 Families with Usher Type I

OpenAIRE

Astuto, Lisa M.; Weston, Michael D.; Carney, Carol A.; Hoover, Denise M.; Cremers, Cor W.R.J.; Wagenaar, Mariette; Moller, Claes; Smith, Richard J.H.; Pieke-Dahl, Sandra; Greenberg, Jacquie; Ramesar, Raj; Jacobson, Samuel G.; Ayuso, Carmen; Heckenlively, John R.; Tamayo, Marta

2000-01-01

Usher syndrome type I is an autosomal recessive disorder marked by hearing loss, vestibular areflexia, and retinitis pigmentosa. Six Usher I genetic subtypes at loci USH1A–USH1F have been reported. The MYO7A gene is responsible for USH1B, the most common subtype. In our analysis, 151 families with Usher I were screened by linkage and mutation analysis. MYO7A mutations were identified in 64 families with Usher I. Of the remaining 87 families, who were negative for MYO7A mutations, 54 were info...

Family physicians' awareness and knowledge of the Genetic Information Non-Discrimination Act (GINA).

Science.gov (United States)

Laedtke, Amanda L; O'Neill, Suzanne M; Rubinstein, Wendy S; Vogel, Kristen J

2012-04-01

Historically, physicians have expressed concern about their patients' risk of genetic discrimination, which has acted as a barrier to uptake of genetic services. The Genetic Information Nondiscrimination Act of 2008 (GINA) is intended to protect patients against employer and health insurance discrimination. Physicians' awareness and knowledge of GINA has yet to be evaluated. In 2009, we mailed surveys to 1500 randomly selected members of the American Academy of Family Physicians. Questions measured physicians' current knowledge of GINA and their level of concern for genetic discrimination. In total, 401 physicians completed the survey (response rate 26.9%). Approximately half (54.5%) of physicians had no awareness of GINA. Of physicians who reported basic knowledge of GINA, the majority were aware of the protections offered for group health insurance (92.7%), private health insurance (82.9%), and employment (70.7%). Fewer physicians were aware of GINA's limitations regarding life insurance (53.7%) and long-term care insurance (58.8%). Physicians demonstrated highest levels of concern for health insurance, life insurance, and long-term care insurance discrimination, with less concern for employer and family/social discrimination. Level of concern for the risk of genetic discrimination did not correlate significantly with awareness of GINA. Approximately 17 months after GINA was signed into federal law, physicians' knowledge remained limited regarding the existence of this legislation and relevant details. Physicians who are aware of GINA continue to have significant concerns regarding the risk of genetic discrimination. This study reveals the need to further educate physicians about the existence of GINA and the protections offered.

Implementation of the Realized Genomic Relationship Matrix to Open-Pollinated White Spruce Family Testing for Disentangling Additive from Nonadditive Genetic Effects

Directory of Open Access Journals (Sweden)

Omnia Gamal El-Dien

2016-03-01

Full Text Available The open-pollinated (OP family testing combines the simplest known progeny evaluation and quantitative genetics analyses as candidates’ offspring are assumed to represent independent half-sib families. The accuracy of genetic parameter estimates is often questioned as the assumption of “half-sibling” in OP families may often be violated. We compared the pedigree- vs. marker-based genetic models by analysing 22-yr height and 30-yr wood density for 214 white spruce [Picea glauca (Moench Voss] OP families represented by 1694 individuals growing on one site in Quebec, Canada. Assuming half-sibling, the pedigree-based model was limited to estimating the additive genetic variances which, in turn, were grossly overestimated as they were confounded by very minor dominance and major additive-by-additive epistatic genetic variances. In contrast, the implemented genomic pairwise realized relationship models allowed the disentanglement of additive from all nonadditive factors through genetic variance decomposition. The marker-based models produced more realistic narrow-sense heritability estimates and, for the first time, allowed estimating the dominance and epistatic genetic variances from OP testing. In addition, the genomic models showed better prediction accuracies compared to pedigree models and were able to predict individual breeding values for new individuals from untested families, which was not possible using the pedigree-based model. Clearly, the use of marker-based relationship approach is effective in estimating the quantitative genetic parameters of complex traits even under simple and shallow pedigree structure.

Family genome browser: visualizing genomes with pedigree information.

Science.gov (United States)

Juan, Liran; Liu, Yongzhuang; Wang, Yongtian; Teng, Mingxiang; Zang, Tianyi; Wang, Yadong

2015-07-15

Families with inherited diseases are widely used in Mendelian/complex disease studies. Owing to the advances in high-throughput sequencing technologies, family genome sequencing becomes more and more prevalent. Visualizing family genomes can greatly facilitate human genetics studies and personalized medicine. However, due to the complex genetic relationships and high similarities among genomes of consanguineous family members, family genomes are difficult to be visualized in traditional genome visualization framework. How to visualize the family genome variants and their functions with integrated pedigree information remains a critical challenge. We developed the Family Genome Browser (FGB) to provide comprehensive analysis and visualization for family genomes. The FGB can visualize family genomes in both individual level and variant level effectively, through integrating genome data with pedigree information. Family genome analysis, including determination of parental origin of the variants, detection of de novo mutations, identification of potential recombination events and identical-by-decent segments, etc., can be performed flexibly. Diverse annotations for the family genome variants, such as dbSNP memberships, linkage disequilibriums, genes, variant effects, potential phenotypes, etc., are illustrated as well. Moreover, the FGB can automatically search de novo mutations and compound heterozygous variants for a selected individual, and guide investigators to find high-risk genes with flexible navigation options. These features enable users to investigate and understand family genomes intuitively and systematically. The FGB is available at http://mlg.hit.edu.cn/FGB/. © The Author 2015. Published by Oxford University Press. All rights reserved. For Permissions, please e-mail: journals.permissions@oup.com.

The familial hyperchylomicronemia syndrome: New insights into underlying genetic defects

Energy Technology Data Exchange (ETDEWEB)

Santamarina-Fojo, S.; Brewer, H.B. (National Inst. of Health, Bethesda, MD (United States))

1991-02-20

This case history reports the diagnosis of familial hyperchylomicronemia, a rare genetic syndrome inherited as an autosomal recessive trait. It is characterized by severe fasting hypertriglyceridemia and massive accumulations of chylomicrons in plasma. The two major molecular defects in the disease are a deficiency of lipoprotein lipase or of apo C-II. The location of the mutations in the human apolipoprotein (apo) C-II gene are identified.

Psychosocial and Clinical Factors Associated with Family Communication of Cancer Genetic Test Results among Women Diagnosed with Breast Cancer at a Young Age.

Science.gov (United States)

Elrick, Ashley; Ashida, Sato; Ivanovich, Jennifer; Lyons, Sarah; Biesecker, Barbara B; Goodman, Melody S; Kaphingst, Kimberly A

2017-02-01

Genetic test results have medical implications beyond the patient that extend to biological family members. We examined psychosocial and clinical factors associated with communication of genetic test results within families. Women (N = 1080) diagnosed with breast cancer at age 40 or younger completed an online survey; 920 women that reported prior cancer genetic testing were included in analysis. We examined the proportion of immediate family members to whom they communicated genetic test results, and built multivariable regression models to examine clinical and psychosocial variables associated with the proportion score. Participants were most likely to communicate test results to their mother (83 %) and least likely to their son (45 %). Participants who carried a BRCA mutation (OR = 1.34; 95 % CI = 1.06, 1.70), had higher interest in genomic information (OR = 1.55; 95 % CI = 1.26, 1.91) and lower genetic worry (OR = 0.91; 95 % CI = 0.86, 0.96) communicated genetic test results to a greater proportion of their immediate family members. Participants with a BRCA1/2 mutation shared their genetic test results with more male family members (OR = 1.72; 95 % CI = 1.02, 2.89). Our findings suggest that patients with high worry about genetic risks, low interest in genomic information, or receive a negative genetic test result will likely need additional support to encourage family communication.

The historical role of species from the Solanaceae plant family in genetic research

OpenAIRE

Gebhardt, Christiane

2016-01-01

Key message This article evaluates the main contributions of tomato, tobacco, petunia, potato, pepper and eggplant to classical and molecular plant genetics and genomics since the beginning of the twentieth century. Abstract Species from the Solanaceae family form integral parts of human civilizations as food sources and drugs since thousands of years, and, more recently, as ornamentals. Some Solanaceous species were subjects of classical and molecular genetic research over the last 100?years...

Aboriginal fractions: enumerating identity in Taiwan.

Science.gov (United States)

Liu, Jennifer A

2012-01-01

Notions of identity in Taiwan are configured in relation to numbers. I examine the polyvalent capacities of enumerative technologies in both the production of ethnic identities and claims to political representation and justice. By critically historicizing the manner in which Aborigines in Taiwan have been, and continue to be, constructed as objects and subjects of scientific knowledge production through technologies of measuring, I examine the genetic claim made by some Taiwanese to be "fractionally" Aboriginal. Numbers and techniques of measuring are used ostensibly to know the Aborigines, but they are also used to construct a genetically unique Taiwanese identity and to incorporate the Aborigines within projects of democratic governance. Technologies of enumeration thus serve within multiple, and sometimes contradictory, projects of representation and knowledge production.

It’s who I am and what we eat: Mothers’ food-related identities in family food choice

Science.gov (United States)

Johnson, Cassandra M.; Sharkey, Joseph R.; Dean, Wesley R.; McIntosh, W. Alex; Kubena, Karen S.

2011-01-01

This study aimed to understand mothers’ everyday food choices using one type of visual method-participant-driven photo-elicitation (PDPE). The sample consisted of 12 low/moderate income mothers (26–53 years) living in Bryan/College Station, Texas. Each mother completed a photography activity, where she created photographs of her food experience, and an in-depth interview using the mother’s photographs. Interview transcripts were analyzed using a grounded theory approach and coded using qualitative data analysis software ATLAS.ti. Mothers emphasized their identities related to food and eating as they described food-related decisions and activities. These identities influenced a mother’s food choices for herself and those she made for her children. Analysis revealed that mothers with a more defined health identity made healthier choices for themselves and similar food choices for their children. In addition, they exhibited behaviors that positively influenced their children’s food choices. Mothers who struggled to see themselves as healthy indulged with more junk food and indicated feelings of anxiety and guilt; these mothers’ food choices were more disconnected from their children’s. These findings underscore the importance of understanding how identities related to food and eating can influence food choices. Encouraging mothers to develop and maintain health identities may be one way to improve food and eating habits in families. PMID:21600253

Psychological aspects of human cloning and genetic manipulation: the identity and uniqueness of human beings.

Science.gov (United States)

Morales, N M

2009-01-01

Human cloning has become one of the most controversial debates about reproduction in Western civilization. Human cloning represents asexual reproduction, but the critics of human cloning argue that the result of cloning is not a new individual who is genetically unique. There is also awareness in the scientific community, including the medical community, that human cloning and the creation of clones are inevitable. Psychology and other social sciences, together with the natural sciences, will need to find ways to help the healthcare system, to be prepared to face the new challenges introduced by the techniques of human cloning. One of those challenges is to help the healthcare system to find specific standards of behaviour that could be used to help potential parents to interact properly with cloned babies or children created through genetic manipulation. In this paper, the concepts of personality, identity and uniqueness are discussed in relationship to the contribution of twin studies in these areas. The author argues that an individual created by human cloning techniques or any other type of genetic manipulation will not show the donor's characteristics to the extent of compromising uniqueness. Therefore, claims to such an effect are needlessly alarmist.

Familiality of factor analysis-derived YBOCS dimensions in OCD-affected sibling pairs from the OCD Collaborative Genetics Study.

Science.gov (United States)

Hasler, Gregor; Pinto, Anthony; Greenberg, Benjamin D; Samuels, Jack; Fyer, Abby J; Pauls, David; Knowles, James A; McCracken, James T; Piacentini, John; Riddle, Mark A; Rauch, Scott L; Rasmussen, Steven A; Willour, Virginia L; Grados, Marco A; Cullen, Bernadette; Bienvenu, O Joseph; Shugart, Yin-Yao; Liang, Kung-Yee; Hoehn-Saric, Rudolf; Wang, Ying; Ronquillo, Jonne; Nestadt, Gerald; Murphy, Dennis L

2007-03-01

Identification of familial, more homogenous characteristics of obsessive-compulsive disorder (OCD) may help to define relevant subtypes and increase the power of genetic and neurobiological studies of OCD. While factor-analytic studies have found consistent, clinically meaningful OCD symptom dimensions, there have been only limited attempts to evaluate the familiality and potential genetic basis of such dimensions. Four hundred eighteen sibling pairs with OCD were evaluated using the Structured Clinical Interview for DSM-IV and the Yale-Brown Obsessive Compulsive Scale (YBOCS) Symptom Checklist and Severity scales. After controlling for sex, age, and age of onset, robust sib-sib intraclass correlations were found for two of the four YBOCS factors: Factor IV (hoarding obsessions and compulsions (p = .001) and Factor I (aggressive, sexual, and religious obsessions, and checking compulsions; p = .002). Smaller, but still significant, familiality was found for Factor III (contamination/cleaning; p = .02) and Factor II (symmetry/ordering/arranging; p = .04). Limiting the sample to female subjects more than doubled the familiality estimates for Factor II (p = .003). Among potentially relevant comorbid conditions for genetic studies, bipolar I/II and major depressive disorder were strongly associated with Factor I (p sibling pairs with OCD are familial with some gender-dependence, exhibit relatively specific relationships to comorbid psychiatric disorders and thus may be useful as refined phenotypes for molecular genetic studies of OCD.

Embryo genome profiling by single-cell sequencing for preimplantation genetic diagnosis in a β-thalassemia family

DEFF Research Database (Denmark)

Xu, Yanwen; Chen, Shengpei; Yin, Xuyang

2015-01-01

for a β-thalassemia-carrier couple to have a healthy second baby. We carried out sequencing for single blastomere cells and the family trio and further developed the analysis pipeline, including recovery of the missing alleles, removal of the majority of errors, and phasing of the embryonic genome...... leukocyte antigen matching tests. CONCLUSIONS: This retrospective study in a β-thalassemia family demonstrates a method for embryo genome recovery through single-cell sequencing, which permits detection of genetic variations in preimplantation genetic diagnosis. It shows the potential of single...

Alu repeats as markers for human population genetics

Energy Technology Data Exchange (ETDEWEB)

Batzer, M.A.; Alegria-Hartman, M. [Lawrence Livermore National Lab., CA (United States); Bazan, H. [Louisiana State Univ., New Orleans, LA (United States). Medical Center] [and others

1993-09-01

The Human-Specific (HS) subfamily of Alu sequences is comprised of a group of 500 nearly identical members which are almost exclusively restricted to the human genome. Individual subfamily members share an average of 97.9% nucleotide identity with each other and an average of 98.9% nucleotide identity with the HS subfamily consensus sequence. HS Alu family members are thought to be derived from a single source ``master`` gene, and have an average age of 2.8 million years. We have developed a Polymerase Chain Reaction (PCR) based assay using primers complementary to the 5 in. and 3 in. unique flanking DNA sequences from each HS Alu that allows the locus to be assayed for the presence or absence of an Alu repeat. Individual HS Alu sequences were found to be either monomorphic or dimorphic for the presence or absence of each repeat. The monomorphic HS Alu family members inserted in the human genome after the human/great ape divergence (which is thought to have occurred 4--6 million years ago), but before the radiation of modem man. The dimorphic HS Alu sequences inserted in the human genome after the radiation of modem man (within the last 200,000-one million years) and represent a unique source of information for human population genetics and forensic DNA analyses. These sites can be developed into Dimorphic Alu Sequence Tagged Sites (DASTS) for the Human Genome Project as well. HS Alu family member insertion dimorphism differs from other types of polymorphism (e.g. Variable Number of Tandem Repeat [VNTR] or Restriction Fragment Length Polymorphism [RFLP]) because individuals share HS Alu family member insertions based upon identity by descent from a common ancestor as a result of a single event which occurred one time within the human population. The VNTR and RFLP polymorphisms may arise multiple times within a population and are identical by state only.

Genetic Characteristics of Coronaviruses from Korean Bats in 2016.

Science.gov (United States)

Lee, Saemi; Jo, Seong-Deok; Son, Kidong; An, Injung; Jeong, Jipseol; Wang, Seung-Jun; Kim, Yongkwan; Jheong, Weonhwa; Oem, Jae-Ku

2018-01-01

Bats have increasingly been recognized as the natural reservoir of severe acute respiratory syndrome (SARS), coronavirus, and other coronaviruses found in mammals. However, little research has been conducted on bat coronaviruses in South Korea. In this study, bat samples (332 oral swabs, 245 fecal samples, 38 urine samples, and 57 bat carcasses) were collected at 33 natural bat habitat sites in South Korea. RT-PCR and sequencing were performed for specific coronavirus genes to identify the bat coronaviruses in different bat samples. Coronaviruses were detected in 2.7% (18/672) of the samples: 13 oral swabs from one species of the family Rhinolophidae, and four fecal samples and one carcass (intestine) from three species of the family Vespertiliodae. To determine the genetic relationships of the 18 sequences obtained in this study and previously known coronaviruses, the nucleotide sequences of a 392-nt region of the RNA-dependent RNA polymerase (RdRp) gene were analyzed phylogenetically. Thirteen sequences belonging to SARS-like betacoronaviruses showed the highest nucleotide identity (97.1-99.7%) with Bat-CoV-JTMC15 reported in China. The other five sequences were most similar to MERS-like betacoronaviruses. Four nucleotide sequences displayed the highest identity (94.1-95.1%) with Bat-CoV-HKU5 from Hong Kong. The one sequence from a carcass showed the highest nucleotide identity (99%) with Bat-CoV-SC2013 from China. These results suggest that careful surveillance of coronaviruses from bats should be continued, because animal and human infections may result from the genetic variants present in bat coronavirus reservoirs.

Genetic identification of children of the disappeared in Argentina.

Science.gov (United States)

Penchaszadeh, V B

1997-01-01

During the military dictatorship that ruled Argentina between 1976 and 1983, the security forces engaged in well-planned repression that included the abduction, torture, and disappearance of thousands of dissidents. Repression spared neither children nor pregnant women. Approximately 220 babies and children of the disappeared victims were abducted and kept mostly by families with connections with the military. After the restoration of democracy, attempts to find and identify the missing children were made, with the goal of restoring their personal and familial identities and returning them to their surviving relatives. The Association of Grandmothers of Plaza de Mayo and a number of geneticists who developed and applied methods of genetic identification to this human rights cause were instrumental in this quest. Initial use of histocompatibility (HLA) typing for genetic identification was later followed by nuclear DNA typing and mitochondrial DNA sequencing. Of 56 children found and identified, 30 were returned to their legitimate families, 13 remained with the families who had adopted them in good faith, 6 are still the subject of custody litigation in the courts, and 7 were found dead. Psychological and ethical guidelines protecting the best interests of the children were followed in all proceedings.

Is the Association Between Education and Fertility Postponement Causal? The Role of Family Background Factors.

Science.gov (United States)

Tropf, Felix C; Mandemakers, Jornt J

2017-02-01

A large body of literature has demonstrated a positive relationship between education and age at first birth. However, this relationship may be partly spurious because of family background factors that cannot be controlled for in most research designs. We investigate the extent to which education is causally related to later age at first birth in a large sample of female twins from the United Kingdom (N = 2,752). We present novel estimates using within-identical twin and biometric models. Our findings show that one year of additional schooling is associated with about one-half year later age at first birth in ordinary least squares (OLS) models. This estimate reduced to only a 1.5-month later age at first birth for the within-identical twin model controlling for all shared family background factors (genetic and family environmental). Biometric analyses reveal that it is mainly influences of the family environment-not genetic factors-that cause spurious associations between education and age at first birth. Last, using data from the Office for National Statistics, we demonstrate that only 1.9 months of the 2.74 years of fertility postponement for birth cohorts 1944-1967 could be attributed to educational expansion based on these estimates. We conclude that the rise in educational attainment alone cannot explain differences in fertility timing between cohorts.

Population-based familial aggregation of eosinophilic esophagitis suggests a genetic contribution.

Science.gov (United States)

Allen-Brady, Kristina; Firszt, Rafael; Fang, John C; Wong, Jathine; Smith, Ken R; Peterson, Kathryn A

2017-10-01

Prior familial clustering studies have observed an increased risk of eosinophilic esophagitis (EoE) mostly among first-degree relatives, suggesting a genetic contribution to EoE, and twin studies have suggested a powerful contribution from environmental factors. This study sought to clarify the contribution of genetic factors to EoE through estimation of familial aggregation and risk of EoE in extended relatives. The Utah Population Database, a population-based genealogy resource linked to electronic medical records for health care systems across the state of Utah, was used to identify EoE cases and age, sex, and birthplace-matched controls at a 5:1 ratio. Logistic regression was used to determine the odds of EoE among relatives of EoE probands compared with the odds of EoE among relatives of controls. There were 4,423 EoE cases and 24,322 controls. The population-attributable risk of EoE was 31% (95% CI, 28% to 34%), suggesting a relatively strong genetic contribution. Risks of EoE were significantly increased among first-degree relatives (odds ratio [OR], 7.19; 95% CI, 5.65-9.14), particularly first-degree relatives of EoE cases diagnosed <18 years of age (OR, 16.3; 95% CI, 9.4-28.3); second-degree relatives (OR, 1.99; 95% CI, 1.49-2.65); and first cousins (OR, 1.35; 95% CI, 1.03-1.77), providing evidence of a genetic contribution. However, spouses of EoE probands were observed to be at increased risk of EoE (OR, 2.86; 95% CI, 1.31-6.25), suggesting either positive assortative mating or a shared environmental contribution to EoE. This study supports a significant genetic contribution to EoE as evidenced by increased risk of EoE in distant relatives. Copyright © 2017 American Academy of Allergy, Asthma & Immunology. Published by Elsevier Inc. All rights reserved.

Clinical correlates and genetic linkage of social and communication difficulties in families with obsessive-compulsive disorder: Results from the OCD Collaborative Genetics Study.

Science.gov (United States)

Samuels, Jack; Shugart, Yin Yao; Wang, Ying; Grados, Marco A; Bienvenu, O Joseph; Pinto, Anthony; Rauch, Scott L; Greenberg, Benjamin D; Knowles, James A; Fyer, Abby J; Piacentini, John; Pauls, David L; Cullen, Bernadette; Rasmussen, Steven A; Stewart, S Evelyn; Geller, Dan A; Maher, Brion S; Goes, Fernando S; Murphy, Dennis L; McCracken, James T; Riddle, Mark A; Nestadt, Gerald

2014-06-01

Some individuals with obsessive-compulsive disorder (OCD) have autistic-like traits, including deficits in social and communication behaviors (pragmatics). The objective of this study was to determine if pragmatic impairment aggregates in OCD families and discriminates a clinically and genetically distinct subtype of OCD. We conducted clinical examinations on, and collected DNA samples from, 706 individuals with OCD in 221 multiply affected OCD families. Using the Pragmatic Rating Scale (PRS), we compared the prevalence of pragmatic impairment in OCD-affected relatives of probands with and without pragmatic impairment. We also compared clinical features of OCD-affected individuals in families having at least one, versus no, individual with pragmatic impairment, and assessed for linkage to OCD in the two groups of families. The odds of pragmatic impairment were substantially greater in OCD-affected relatives of probands with pragmatic impairment. Individuals in high-PRS families had greater odds of separation anxiety disorder and social phobia, and a greater number of schizotypal personality traits. In high-PRS families, there was suggestive linkage to OCD on chromosome 12 at marker D12S1064 and on chromosome X at marker DXS7132 whereas, in low-PRS families, there was suggestive linkage to chromosome 3 at marker D3S2398. Pragmatic impairment aggregates in OCD families. Separation anxiety disorder, social phobia, and schizotypal personality traits are part of a clinical spectrum associated with pragmatic impairment in these families. Specific regions of chromosomes 12 and X are linked to OCD in high-PRS families. Thus, pragmatic impairment may distinguish a clinically and genetically homogeneous subtype of OCD. © 2014 Wiley Periodicals, Inc.

Diversity of genetic events associated with MLH1 promoter methylation in Lynch syndrome families with heritable constitutional epimutation.

Science.gov (United States)

Leclerc, Julie; Flament, Cathy; Lovecchio, Tonio; Delattre, Lucie; Ait Yahya, Emilie; Baert-Desurmont, Stéphanie; Burnichon, Nelly; Bronner, Myriam; Cabaret, Odile; Lejeune, Sophie; Guimbaud, Rosine; Morin, Gilles; Mauillon, Jacques; Jonveaux, Philippe; Laurent-Puig, Pierre; Frébourg, Thierry; Porchet, Nicole; Buisine, Marie-Pierre

2018-04-12

PurposeConstitutional epimutations are an alternative to genetic mutations in the etiology of genetic diseases. Some of these epimutations, termed secondary, correspond to the epigenetic effects of cis-acting genetic defects transmitted to the offspring following a Mendelian inheritance pattern. In Lynch syndrome, a few families with such apparently heritable MLH1 epimutations have been reported so far.MethodsWe designed a long-range polymerase chain reaction next-generation sequencing strategy to screen MLH1 entire gene and applied it to 4 French families with heritable epimutations and 10 additional patients with no proven transmission of their epimutations.ResultsThis strategy successfully detected the insertion of an Alu element in MLH1 coding sequence in one family. Two previously unreported MLH1 variants were also identified in other epimutation carriers: a nucleotide substitution within intron 1 and a single-nucleotide deletion in the 5'-UTR. Detection of a partial MLH1 duplication in another family required multiplex ligation-dependent probe amplification technology. We demonstrated the segregation of these variants with MLH1 methylation and studied the functional consequences of these defects on transcription.ConclusionThis is the largest cohort of patients with MLH1 secondary epimutations associated with a broad spectrum of genetic defects. This study provides further insight into the complexity of molecular mechanisms leading to secondary epimutations.GENETICS in MEDICINE advance online publication, 12 April 2018; doi:10.1038/gim.2018.47.

Genetic and environmental-genetic interaction rules for the myopia based on a family exposed to risk from a myopic environment.

Science.gov (United States)

Wenbo, Li; Congxia, Bai; Hui, Liu

2017-08-30

To quantitatively assess the role of heredity and environmental factors in myopia based on the family with enough exposed to risk from myopic environment for establishment of environmental and genetic index (EGI). A pedigree analysis unit was defined as one child (university student), father, and mother. Information pertaining to visual acuity, experience in participating in the college entrance examination in mainland of China (regarded as a strong environmental risk for myopia), and occupation for pedigree analysis units were obtained. The difference between effect of both genetic and environmental factors (myopia prevalence in children with two myopic parents) and environmental factors (myopia prevalence in children of whom neither parent was myopic) was defined as the EGI. Multiple regression analysis was performed for 114 pedigree using diopters of father, mother, average diopters in parents, maximum and minimum diopters in father and mother as variables. A total of 353 farmers and 162 farmer families were used as a control group. A distinct difference in myopia rate (96.2% versus 57.7%) was observed for children from parents with myopia and parents without myopia (EGI=0.385). The maximum diopter was included to regression equation which was statistically significant. The prevalence of myopia was 9.9% in the farmer. The prevalence in children is similar between the farmer and other families. A new genetic rule that myopia in children was directly related with maximum diopters in father and mother may be suggested. Environmental factors may play a leading role in the formation of myopia. Copyright © 2017 Elsevier B.V. All rights reserved.

An LMNB1 Duplication Caused Adult-Onset Autosomal Dominant Leukodystrophy in Chinese Family: Clinical Manifestations, Neuroradiology and Genetic Diagnosis

Directory of Open Access Journals (Sweden)

Yi Dai

2017-07-01

Full Text Available Autosomal dominant adult-onset demyelinating leukodystrophy (ADLD is a very rare neurological disorder featured with late onset, slowly progressive central nervous system demyelination. Duplication or over expression of the lamin B1 (LMNB1 gene causes ADLD. In this study, we undertook a comprehensive clinical evaluation and genetic detection for a Chinese family with ADLD. The proband is a 52-year old man manifested with autonomic abnormalities, pyramidal tract dysfunction. MRI brain scan identified bilateral symmetric white matter (WM hyper-intensities in periventricular and semi-oval WM, cerebral peduncles and middle cerebellar peduncles. The proband has a positive autosomal dominant family history with similar clinical manifestations with a trend of genetic anticipation. In order to understand the genetic cause of the disease in this family, target exome capture based next generation sequencing has been done, but no causative variants or possibly pathogenic variants has been identified. However, Multiplex ligand-dependent probe amplification (MLPA showed whole duplication of LMNB1 gene which is co-segregated with the disease phenotype in this family. This is the first genetically confirmed LMNB1 associated ADLD pedigree from China.

Bullying and Victimisation in School Children: The Role of Social Identity, Problem-Solving Style, and Family and School Context

Science.gov (United States)

Cassidy, Tony

2009-01-01

The relationship between social identity, family and school context, problem-solving style, self-esteem, health behaviour, psychological distress, and victimisation, was explored in a quasi-experimental survey of 461 children aged between 11 and 15 years old. There was a high prevalence of victimisation (29%) in the group and 44% of those…

Genetic and Environmental Variance Among F2 Families in a Commercial Breeding Program for Perennial Ryegrass (Lolium perenne L.)

DEFF Research Database (Denmark)

Fé, Dario; Greve-Pedersen, Morten; Jensen, Christian Sig

2013-01-01

In the joint project “FORAGESELECT”, we aim to implement Genome Wide Selection (GWS) in breeding of perennial ryegrass (Lolium perenne L.), in order to increase genetic response in important agronomic traits such as yield, seed production, stress tolerance and disease resistance, while decreasing...... of this study was to estimate the genetic and environmental variance in the training set composed of F2 families selected from a ten year breeding period. Variance components were estimated on 1193 of those families, sown in 2001, 2003 and 2005 in five locations around Europe. Families were tested together...

A Neural Network: Family Competition Genetic Algorithm and Its Applications in Electromagnetic Optimization

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P.-Y. Chen

2009-01-01

Full Text Available This study proposes a neural network-family competition genetic algorithm (NN-FCGA for solving the electromagnetic (EM optimization and other general-purpose optimization problems. The NN-FCGA is a hybrid evolutionary-based algorithm, combining the good approximation performance of neural network (NN and the robust and effective optimum search ability of the family competition genetic algorithms (FCGA to accelerate the optimization process. In this study, the NN-FCGA is used to extract a set of optimal design parameters for two representative design examples: the multiple section low-pass filter and the polygonal electromagnetic absorber. Our results demonstrate that the optimal electromagnetic properties given by the NN-FCGA are comparable to those of the FCGA, but reducing a large amount of computation time and a well-trained NN model that can serve as a nonlinear approximator was developed during the optimization process of the NN-FCGA.

Application of massively parallel sequencing to genetic diagnosis in multiplex families with idiopathic sensorineural hearing impairment.

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Chen-Chi Wu

Full Text Available Despite the clinical utility of genetic diagnosis to address idiopathic sensorineural hearing impairment (SNHI, the current strategy for screening mutations via Sanger sequencing suffers from the limitation that only a limited number of DNA fragments associated with common deafness mutations can be genotyped. Consequently, a definitive genetic diagnosis cannot be achieved in many families with discernible family history. To investigate the diagnostic utility of massively parallel sequencing (MPS, we applied the MPS technique to 12 multiplex families with idiopathic SNHI in which common deafness mutations had previously been ruled out. NimbleGen sequence capture array was designed to target all protein coding sequences (CDSs and 100 bp of the flanking sequence of 80 common deafness genes. We performed MPS on the Illumina HiSeq2000, and applied BWA, SAMtools, Picard, GATK, Variant Tools, ANNOVAR, and IGV for bioinformatics analyses. Initial data filtering with allele frequencies (0.95 prioritized 5 indels (insertions/deletions and 36 missense variants in the 12 multiplex families. After further validation by Sanger sequencing, segregation pattern, and evolutionary conservation of amino acid residues, we identified 4 variants in 4 different genes, which might lead to SNHI in 4 families compatible with autosomal dominant inheritance. These included GJB2 p.R75Q, MYO7A p.T381M, KCNQ4 p.S680F, and MYH9 p.E1256K. Among them, KCNQ4 p.S680F and MYH9 p.E1256K were novel. In conclusion, MPS allows genetic diagnosis in multiplex families with idiopathic SNHI by detecting mutations in relatively uncommon deafness genes.

Feasibility of identifying families for genetic studies of birth defects using the National Health Interview Survey

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Nolan Vikki G

2004-05-01

Full Text Available Abstract Background The purpose of this study was to determine whether the National Health Interview Survey is a useful source to identify informative families for genetic studies of birth defects. Methods The 1994/1995 National Health Interview Survey (NHIS was used to identify households where individuals with two or more birth defects reside. Four groups of households were identified: 1 single non-familial (one individual with one birth defect; 2 single familial (more than one individual with one birth defect; 3 multiple non-familial (one individual with more than one birth defect, and 4 multiple familial (more than one individual with more than one birth defect. The March 2000 U.S. Census on households was used to estimate the total number of households in which there are individuals with birth defects. Results Of a total of 28,094 households and surveyed about birth defects and impairments, 1,083 single non-familial, 55 multiple non-familial, 54 single familial, and 8 multiple familial households were identified. Based on the 2000 U.S. census, it is estimated that there are 4,472,385 households where at least one person has one birth defect in the United States and in 234,846 of them there are at least two affected individuals. Western states had the highest prevalence rates. Conclusions Population-based methods, such as the NHIS, are modestly useful to identify the number and the regions where candidate families for genetic studies of birth defects reside. Clinic based studies and birth defects surveillance systems that collect family history offer better probability of ascertainment.

Aortic Disease in the Young: Genetic Aneurysm Syndromes, Connective Tissue Disorders, and Familial Aortic Aneurysms and Dissections

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Marcelo Cury

2013-01-01

Full Text Available There are many genetic syndromes associated with the aortic aneurysmal disease which include Marfan syndrome (MFS, Ehlers-Danlos syndrome (EDS, Loeys-Dietz syndrome (LDS, familial thoracic aortic aneurysms and dissections (TAAD, bicuspid aortic valve disease (BAV, and autosomal dominant polycystic kidney disease (ADPKD. In the absence of familial history and other clinical findings, the proportion of thoracic and abdominal aortic aneurysms and dissections resulting from a genetic predisposition is still unknown. In this study, we propose the review of the current genetic knowledge in the aortic disease, observing, in the results that the causative genes and molecular pathways involved in the pathophysiology of aortic aneurysm disease remain undiscovered and continue to be an area of intensive research.

Genetic variation in carbon isotope discrimination and its relationship to growth under field conditions in full-sib families of Picea mariana

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Lawrence B. Flanagan; Kurt H. Johnsen

1995-01-01

Measurements of the stable carbon isotope composition of leaf tissue were made on Picea mariana (Mill.) B.S.P. trees from four full-sib families grown on three different field sites at the Petawawa National Forestry Institute, Ontario, Canada. The four families chosen exhibited genetic variation for growth characteristics. Genetic...

Genetics of familial melanoma

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Aoude, Lauren G; Wadt, Karin A W; Pritchard, Antonia L

2015-01-01

Twenty years ago, the first familial melanoma susceptibility gene, CDKN2A, was identified. Two years later, another high-penetrance gene, CDK4, was found to be responsible for melanoma development in some families. Progress in identifying new familial melanoma genes was subsequently slow; however...

Genetic basis of familial isolated hyperparathyroidism: a case series and a narrative review of the literature.

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Pontikides, Nikolaos; Karras, Spyridon; Kaprara, Athina; Anagnostis, Panagiotis; Mintziori, Gesthimani; Goulis, Dimitrios G; Memi, Eleni; Krassas, Gerasimos

2014-07-01

Primary hyperparathyroidism is a heterogeneous clinical entity. In the clinical setting, the diagnosis and management of familial isolated hyperparathyroidism (FIHP) and other familial hyperparathyroidism (FHPT) forms continue to rely on clinical, laboratory, and histological findings, with careful examination of the family. In this article, we report a case series of FIHP in a four-generation Greek family, with no identifiable gene mutations. Clinical approach and long-term follow-up are discussed and a narrative review of the genetic basis of this entity has been performed.

Heritability and genetic advance studies for biochemical traits in F2-3 introgressed families of Brassica

International Nuclear Information System (INIS)

Farhatullah, N.K.; Khalil, I.H.; Nahed, H.

2015-01-01

Higher heritability estimates along with high genetic advance values are effective in envisaging gain under selection in developing genotypes. The objective of the present study was to evaluate variability, heritability and genetic advance in 10 interspecific F2-3 families of Brassica species (B. napus * B. juncea, B. napus * B. rapa). These families were studied for heterospecific introgression of biochemical traits. Low to high heritability estimates were recorded for seed quality traits. Considerable variations within F2-3 families were observed for biochemical traits. Most of the F2-3 families for oil content and erucic showed moderate to high heritability indicating the slightest influence of environment thus modification of trait by selection would be more effective. Among F2-3 introgressed families Bn-510 x Bj-109 produced high oil i.e., 49.5% while Bn-532 x Br-118 (24.4%), Bn-533 x Bj-109 (24.1%) and high protein percentage in terms of mean performance. In the present research, individual segregating progenies of interspecific cross populations i.e., which possessed combination of desirable traits, were identified which could be incorporated in the future Breeding programs and it may facilitate varietal development. (author)

How do clinical genetics consent forms address the familial approach to confidentiality and incidental findings? A mixed-methods study.

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Dheensa, Sandi; Crawford, Gillian; Salter, Claire; Parker, Michael; Fenwick, Angela; Lucassen, Anneke

2018-01-01

Genetic test results can be relevant to patients and their relatives. Questions thus arise around whether clinicians regard genetic information as confidential to individuals or to families, and about how they broach this and other issues, including the potential for incidental findings, in consent (forms) for genetic testing. We conducted a content analysis of UK-wide genetic testing consent forms and interviewed 128 clinicians/laboratory scientists. We found that almost all genetic services offered patients multiple, sometimes unworkable, choices on forms, including an option to veto the use of familial genetic information to benefit relatives. Participants worried that documented choices were overriding professional judgement and cautioned against any future forms dictating practice around incidental findings. We conclude that 'tick-box' forms, which do little to enhance autonomy, are masking valid consent processes in clinical practice. As genome-wide testing becomes commonplace, we must re-consider consent processes, so that they protects patients'-and relatives'-interests.

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

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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.

Complex genetics of familial exudative vitreoretinopathy and related pediatric retinal detachments

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Kondo, Hiroyuki

2015-01-01

Familial exudative vitreoretinopathy (FEVR) is a hereditary vitreoretinal disorder that can cause various types of retinal detachments. The abnormalities in eyes with FEVR are caused by poor vascularization in the peripheral retina. The genetics of FEVR is highly heterogeneous, and mutations in the genes for Wnt signaling and a transcription factor have been reported to be responsible for FEVR. These factors have been shown to be the regulators of the pathophysiological pathways of retinal vascular development. Studies conducted to identify the causative genes of FEVR have uncovered a diverse and complex relationship between FEVR and other diseases; for example, Norrie disease, a Mendelian-inherited disease; retinopathy of prematurity, a multifactorial genetic disease; and Coats disease, a nongenetic disease, associated with pediatric retinal detachments. PMID:29018668

Clinical and genetic aspects of Marfan syndrome and familial thoracic aortic aneurysms and dissections

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Hilhorst-Hofstee, Yvonne

2013-01-01

This thesis concerns the clinical and genetic aspects of familial thoracic aortic aneurysms and dissections, in particular in Marfan syndrome. It includes the Dutch multidisciplinary guidelines for diagnosis and management of Marfan syndrome. These guidelines contain practical directions for

PedGenie: meta genetic association testing in mixed family and case-control designs

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Allen-Brady Kristina

2007-11-01

Full Text Available Abstract Background- PedGenie software, introduced in 2006, includes genetic association testing of cases and controls that may be independent or related (nuclear families or extended pedigrees or mixtures thereof using Monte Carlo significance testing. Our aim is to demonstrate that PedGenie, a unique and flexible analysis tool freely available in Genie 2.4 software, is significantly enhanced by incorporating meta statistics for detecting genetic association with disease using data across multiple study groups. Methods- Meta statistics (chi-squared tests, odds ratios, and confidence intervals were calculated using formal Cochran-Mantel-Haenszel techniques. Simulated data from unrelated individuals and individuals in families were used to illustrate meta tests and their empirically-derived p-values and confidence intervals are accurate, precise, and for independent designs match those provided by standard statistical software. Results- PedGenie yields accurate Monte Carlo p-values for meta analysis of data across multiple studies, based on validation testing using pedigree, nuclear family, and case-control data simulated under both the null and alternative hypotheses of a genotype-phenotype association. Conclusion- PedGenie allows valid combined analysis of data from mixtures of pedigree-based and case-control resources. Added meta capabilities provide new avenues for association analysis, including pedigree resources from large consortia and multi-center studies.

Is Autism a Member of a Family of Diseases Resulting from Genetic/Cultural Mismatches? Implications for Treatment and Prevention

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Staci D. Bilbo

2012-01-01

Full Text Available Several lines of evidence support the view that autism is a typical member of a large family of immune-related, noninfectious, chronic diseases associated with postindustrial society. This family of diseases includes a wide range of inflammatory, allergic, and autoimmune diseases and results from consequences of genetic/culture mismatches which profoundly destabilize the immune system. Principle among these consequences is depletion of important components, particularly helminths, from the ecosystem of the human body, the human biome. Autism shares a wide range of features in common with this family of diseases, including the contribution of genetics/epigenetics, the identification of disease-inducing triggers, the apparent role of immunity in pathogenesis, high prevalence, complex etiologies and manifestations, and potentially some aspects of epidemiology. Fortunately, using available resources and technology, modern medicine has the potential to effectively reconstitute the human biome, thus treating or even avoiding altogether the consequences of genetic/cultural mismatches which underpin this entire family of disease. Thus, if indeed autism is an epidemic of postindustrial society associated with immune hypersensitivity, we can expect that the disease is readily preventable.

Differential association of family subsystem negativity on siblings' maladjustment: using behavior genetic methods to test process theory.

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Feinberg, Mark E; Reiss, David; Neiderhiser, Jenae M; Hetherington, E Mavis

2005-12-01

This study investigated the family context of adolescent sibling similarity and differentiation in maladjustment (antisocial behavior and depression) by examining negativity in different subsystems. Two hypotheses were proposed: (1) Parental and sibling negativity tends to diffuse through the family system, especially because of the high level of reciprocity in sibling relationships, leading to sibling similarity; and (2) interparental (coparenting) conflict disrupts cohesive functioning and thereby motivates and facilitates sibling differentiation and niche picking. To control for the effects of similar genes between siblings, the authors used behavioral genetic models with a genetically informed sample of 720 two-parent families, each with at least 2 adolescent siblings. Results for the differences in shared environmental influences across groups high and low in each of the domains of family negativity provided partial support for the hypotheses. The results further understanding of influences on individual differences and support a theory of how parent-child and interparental relationships intersect with sibling relationship dynamics. Copyright 2006 APA, all rights reserved).

Revisiting the etiological aspects of dissociative identity disorder: a biopsychosocial perspective

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Şar V

2017-05-01

Full Text Available Vedat Şar,1 Martin J Dorahy,2 Christa Krüger3 1Department of Psychiatry, Koç University School of Medicine, Istanbul, Turkey; 2Department of Psychology, University of Canterbury, Christchurch, New Zealand; 3Department of Psychiatry, University of Pretoria, Pretoria, South Africa Abstract: Dissociative identity disorder (DID is a chronic post-traumatic disorder where developmentally stressful events in childhood, including abuse, emotional neglect, disturbed attachment, and boundary violations are central and typical etiological factors. Familial, societal, and cultural factors may give rise to the trauma and/or they may influence the expression of DID. Memory and the construction of self-identity are cognitive processes that appear markedly and centrally disrupted in DID and are related to its etiology. Enduring decoupling of psychological modes may create separate senses of self, and metamemory processes may be involved in interidentity amnesia. Neurobiological differences have been demonstrated between dissociative identities within patients with DID and between patients with DID and controls. Given the current evidence, DID as a diagnostic entity cannot be explained as a phenomenon created by iatrogenic influences, suggestibility, malingering, or social role-taking. On the contrary, DID is an empirically robust chronic psychiatric disorder based on neurobiological, cognitive, and interpersonal non-integration as a response to unbearable stress. While current evidence is sufficient to firmly establish this etiological stance, given the wide opportunities for innovative research, the disorder is still understudied. Comparison of well-selected samples of DID patients with non-dissociative subjects who have other psychiatric disorders would further delineate the neurobiological and cognitive features of the disorder, whereas genetic research on DID would further illuminate the interaction of the individual with environmental stress. As such

Genetics and Rheumatic Disease

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... Well with Rheumatic Disease Genetics and Rheumatic Disease Genetics and Rheumatic Disease Fast Facts Studying twins has ... 70%, and for non-identical pairs, even lower. Genetics and ankylosing spondylitis Each rheumatic disease has its ...

Ontogenetic de novo copy number variations (CNVs as a source of genetic individuality: studies on two families with MZD twins for schizophrenia.

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Sujit Maiti

2011-03-01

Full Text Available Genetic individuality is the foundation of personalized medicine, yet its determinants are currently poorly understood. One issue is the difference between monozygotic twins that are assumed identical and have been extensively used in genetic studies for decades. Here, we report genome-wide alterations in two nuclear families each with a pair of monozygotic twins discordant for schizophrenia evaluated by the Affymetrix 6.0 human SNP array. The data analysis includes characterization of copy number variations (CNVs and single nucleotide polymorphism (SNPs. The results have identified genomic differences between twin pairs and a set of new provisional schizophrenia genes. Samples were found to have between 35 and 65 CNVs per individual. The majority of CNVs (~80% represented gains. In addition, ~10% of the CNVs were de novo (not present in parents, of these, 30% arose during parental meiosis and 70% arose during developmental mitosis. We also observed SNPs in the twins that were absent from both parents. These constituted 0.12% of all SNPs seen in the twins. In 65% of cases these SNPs arose during meiosis compared to 35% during mitosis. The developmental mitotic origin of most CNVs that may lead to MZ twin discordance may also cause tissue differences within individuals during a single pregnancy and generate a high frequency of mosaics in the population. The results argue for enduring genome-wide changes during cellular transmission, often ignored in most genetic analyses.

Discussions about Racial and Ethnic Differences in Internationally Adoptive Families: Links with Family Engagement, Warmth, & Control.

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Anderson, Kayla N; Rueter, Martha A; Lee, Richard M

Discussions about racial and ethnic differences may allow international, transracial adoptive families to construct multiracial and/or multiethnic family identities. However, little is known about the ways family communication influences how discussions about racial and ethnic differences occur. This study examined associations between observed family communication constructs, including engagement, warmth, and control, and how adoptive families discuss racial and ethnic differences using a sample of families with adolescent-aged children adopted internationally from South Korea ( N = 111 families, 222 adolescents). Using data collected during mid-adolescence and again during late adolescence, higher levels of maternal control and positive adolescent engagement were independently associated with a greater likelihood that family members acknowledged the importance of racial and ethnic differences and constructed a multiracial and/or multiethnic family identity. Adolescent engagement was also related to a greater likelihood that family members disagreed about the importance of racial and ethnic differences, and did not build a cohesive identity about differences.

Genetic dissection of powdery mildew resistance in interspecific half-sib grapevine families using SNP-based maps.

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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 F 1 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.

Clinical and genetic investigation of families with type II Waardenburg syndrome.

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Chen, Yong; Yang, Fuwei; Zheng, Hexin; Zhou, Jianda; Zhu, Ganghua; Hu, Peng; Wu, Weijing

2016-03-01

The present study aimed to investigate the molecular pathology of Waardenburg syndrome type II in three families, in order to provide genetic diagnosis and hereditary counseling for family members. Relevant clinical examinations were conducted on the probands of the three pedigrees. Peripheral blood samples of the probands and related family members were collected and genomic DNA was extracted. The coding sequences of paired box 3 (PAX3), microphthalmia‑associated transcription factor (MITF), sex‑determining region Y‑box 10 (SOX10) and snail family zinc finger 2 (SNAI2) were analyzed by polymerase chain reaction and DNA sequencing. The heterozygous mutation, c.649_651delAGA in exon 7 of the MITF gene was detected in the proband and all patients of pedigree 1; however, no pathological mutation of the relevant genes (MITF, SNAI2, SOX10 or PAX3) was detected in pedigrees 2 and 3. The heterozygous mutation c.649_651delAGA in exon 7 of the MITF gene is therefore considered the disease‑causing mutation in pedigree 1. However, there are novel disease‑causing genes in Waardenburg syndrome type II, which require further research.

Regional Spread of CTX-M-2-Producing Proteus mirabilis with the Identical Genetic Structure in Japan.

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Kato, Karin; Matsumura, Yasufumi; Yamamoto, Masaki; Nagao, Miki; Takakura, Shunji; Ichiyama, Satoshi

2017-07-01

In this study, we analyzed the molecular epidemiology of extended-spectrum β-lactamase (ESBL)-producing Proteus mirabilis isolates collected from the central region of Japan. Between 2005 and 2012, 820 clinical P. mirabilis isolates were obtained from ten acute care hospitals in Japan. We characterized ESBL confirmatory test-positive isolates by sequencing the ESBL genes and their flanking regions, detecting plasmid replicons, and performing pulsed-field gel electrophoresis (PFGE). Ninety-six isolates (12%) were positive according to the ESBL confirmatory test; all these isolates possessed bla CTX-M-2 with the same flanking structure of upstream ΔISEcp1 and a downstream region identical to downstream bla KLUA-1 . IncT was the prevalent, and only, replicon found in 63 isolates. PFGE analysis detected eight clusters with more than one isolate, among which three included 56 isolates and six included isolates from multiple hospitals. CTX-M-2-producing P. mirabilis with an identical genetic structure flanking bla CTX-M-2 is dominant in this Japanese region, and there is evidence for the clonal spread of isolates.

Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis

NARCIS (Netherlands)

Douma, K.F.L.; Aaronson, N.K.; Vasen, H.F.A.; Verhoef, S.; Gundy, C.M.; Bleiker, E.M.A.

2010-01-01

Childhood DNA testing, prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) are available for familial adenomatous polyposis (FAP). However, the use of PND and PGD is controversial. The purpose of this study was to investigate attitudes toward, and experiences with, childhood DNA

The Multiple In-group Identity Framework

OpenAIRE

Lock, Daniel; Funk, D.C.

2016-01-01

The effects of team identification on sport consumer behaviour are well established. Recent research, however, has moved beyond this perspective to examine how groups within and beyond the team identity influence consumption. Assimilating previous research findings, we advance a Multiple In-group Identity Framework (MIIF), which consists of three levels: (1) superordinate (e.g., team identity), (2) subgroup (e.g., specific stadium area), and (3) relational group (e.g., friends or family). In ...

Perspectives on Sexual Identity Formation, Identity Practices, and Identity Transitions Among Men Who Have Sex With Men in India.

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Tomori, Cecilia; Srikrishnan, Aylur K; Ridgeway, Kathleen; Solomon, Sunil S; Mehta, Shruti H; Solomon, Suniti; Celentano, David D

2018-01-01

Men who have sex with men (MSM) remain at high risk for HIV infection. Culturally specific sexual identities, encompassing sexual roles, behavior, and appearance, may shape MSM's experiences of stigmatization and discrimination, and affect their vulnerability to HIV. This multi-site qualitative study (n = 363) encompassing 31 focus group discussions (FGDs) and 121 in-depth interviews (IDIs) across 15 sites in India investigated sexual identity formation, identity practices, and transitions and their implications for HIV prevention. IDIs and FGDs were transcribed, translated, and underwent thematic analysis. Our findings document heterogeneous sexual identity formation, with MSM who have more gender nonconforming behaviors or appearance reporting greater family- and community-level disapproval, harassment, violence, and exclusion. Concealing feminine aspects of sexual identities was important in daily life, especially for married MSM. Some participants negotiated their identity practices in accordance with socioeconomic and cultural pressures, including taking on identity characteristics to suit consumer demand in sex work and on extended periods of joining communities of hijras (sometimes called TG or transgender women). Participants also reported that some MSM transition toward more feminine and hijra or transgender women identities, motivated by intersecting desires for feminine gender expression and by social exclusion and economic marginalization. Future studies should collect information on gender nonconformity stigma, and any changes in sexual identity practices or plans for transitions to other identities over time, in relation to HIV risk behaviors and outcomes.

[Genetic analysis of a family with Von Hippel-Lindau syndrome].

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Lafuente-Sanchis, Aránzazu; Cuevas, José M; Alemany, Pilar; Cremades, Antonio; Zúñiga, Ángel

Von Hippel-Lindau syndrome (VHL) is an autosomal dominant inherited disease associated with mutations in the VHL tumour suppressor gene located on chromosome 3p25. VHL is characterized by the development of multiple malignant and benign tumours in the central nervous system and internal organs, including liver, pancreas and the adrenal gland. More than 823 different mutations of the VHL gene have currently been identified. In the present study we describe the case of a family affected by VHL treated at the University Hospital of La Ribera and the results of the genetic analysis of three relatives, identifying the mutation R167G in exon 3 of VHL gene as the cause of VHL syndrome in this family. Copyright © 2016 Sociedad Española de Anatomía Patológica. Publicado por Elsevier España, S.L.U. All rights reserved.

The historical role of species from the Solanaceae plant family in genetic research.

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Gebhardt, Christiane

2016-12-01

This article evaluates the main contributions of tomato, tobacco, petunia, potato, pepper and eggplant to classical and molecular plant genetics and genomics since the beginning of the twentieth century. Species from the Solanaceae family form integral parts of human civilizations as food sources and drugs since thousands of years, and, more recently, as ornamentals. Some Solanaceous species were subjects of classical and molecular genetic research over the last 100 years. The tomato was one of the principal models in twentieth century classical genetics and a pacemaker of genome analysis in plants including molecular linkage maps, positional cloning of disease resistance genes and quantitative trait loci (QTL). Besides that, tomato is the model for the genetics of fruit development and composition. Tobacco was the major model used to establish the principals and methods of plant somatic cell genetics including in vitro propagation of cells and tissues, totipotency of somatic cells, doubled haploid production and genetic transformation. Petunia was a model for elucidating the biochemical and genetic basis of flower color and development. The cultivated potato is the economically most important Solanaceous plant and ranks third after wheat and rice as one of the world's great food crops. Potato is the model for studying the genetic basis of tuber development. Molecular genetics and genomics of potato, in particular association genetics, made valuable contributions to the genetic dissection of complex agronomic traits and the development of diagnostic markers for breeding applications. Pepper and eggplant are horticultural crops of worldwide relevance. Genetic and genomic research in pepper and eggplant mostly followed the tomato model. Comparative genome analysis of tomato, potato, pepper and eggplant contributed to the understanding of plant genome evolution.

ETHNOCULTURAL IDENTITY AS A FACTOR OF FORMATION OF THE FAMILY SELF-DETERMINATION OF STUDENT’S YOUTH

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Svetlana Vasil’evna Merzljakova

2017-11-01

Full Text Available The article presents the results of the empirical study, the purpose of which is to find out the features of family self-determination of modern youth, depending on ethnocultural background (Russians, Kazakhs, Tatars, Caucasus natives. For this purpose a range of complementary methods of the research was used: theoretical and methodological literature analyses, questionnaires, psychodiagnostic methods, methods of applied statistics. The results of the empirical research indicated that the ethnocultural context leads to the formation of family self-determination of modern youth. Within the cognitive component the differences at the level of statistical significance are identified for the variables “I am a future father/ mother”, “I am the son/daughter”. Within the value-emotional component, significant differences are detected concerning to the parental family, mother, father, value of love, sex. Within the regulatory-behavioral component, significant differences are set for the elements: my past, my future, the availability of the sphere a happy family life, an active life, knowledge and creativity, the attitude to a divorce. National identity determines the significance of such marriage motives as harmonious sexual relationships, duty, communication with people, a recognition of others. Within the reflective component there are significant differences for the elements: self-image, the index of the disintegration in motivation-personal sphere. Practical implications. The obtained results will be useful in the implementation of psycho-pedagogical model of directed formation of family-determination of youth within the conditions of University educational environment.

Metabolic syndrome-related composite factors over 5 years in the STANISLAS family study: genetic heritability and common environmental influences.

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Herbeth, Bernard; Samara, Anastasia; Ndiaye, Coumba; Marteau, Jean-Brice; Berrahmoune, Hind; Siest, Gérard; Visvikis-Siest, Sophie

2010-06-03

We estimated genetic heritability and common environmental influences for various traits related to metabolic syndrome in young families from France. At entrance and after 5 years, nineteen traits related to metabolic syndrome were measured in a sample of families drawn from the STANISLAS study. In addition, 5 aggregates of these traits were identified using factor analysis. At entrance, genetic heritability was high (20 to 44%) for plasma lipids and lipoproteins, uric acid, fasting glucose, and the related clusters "risk lipids" and "protective lipids". Intermediate or low genetic heritability (less than 20%) was shown for triglycerides, adiposity indices, blood pressure, hepatic enzyme activity, inflammatory makers and the related clusters: "liver enzymes", "adiposity/blood pressure" and "inflammation". Moreover, common environmental influences were significant for all the parameters. With regard to 5-year changes, polygenic variance was low and not statistically significant for any of the individual variables or clusters whereas shared environment influence was significant. In these young families, genetic heritability of metabolic syndrome-related traits was generally lower than previously reported while the common environmental influences were greater. In addition, only shared environment contributed to short-term changes of these traits. Copyright 2010 Elsevier B.V. All rights reserved.

Social identities and risk

DEFF Research Database (Denmark)

Blok, Anders; Jensen, Mette; Kaltoft, Pernille

2008-01-01

Expert-based environmental and health risk regulation is widely believed to suffer from a lack of public understanding and legitimacy. On controversial issues such as genetically modified organisms and food-related chemicals, a "lay-expert discrepancy" in the assessment of risks is clearly visible...... of social identities. On the basis of qualitative interviews with citizens and experts, respectively, we focus on the multiple ways in which identities come to be employed in actors' risk accounts. Empirically, we identify salient characteristics of "typical" imagined experts and lay-people, while arguing...

Genetic defect causing familial Alzheimer's disease maps on chromosome 21

Energy Technology Data Exchange (ETDEWEB)

St. George-Hyslop, P.H.; Tanzi, R.E.; Polinsky, R.J.; Haines, J.L.; Nee, L.; Watkins, P.C.; Myers, R.H.; Feldman, R.G.; Pollen, D.; Drachman, D.; Growdon, J.

1987-02-20

Alzheimer's disease is a leading cause of morbidity and mortality among the elderly. Several families have been described in which Alzheimer's disease is caused by an autosomal dominant gene defect. The chromosomal location of this defective gene has been discovered by using genetic linkage to DNA markers on chromosome 21. The localization on chromosome 21 provides an explanation for the occurrence of Alzheimer's disease-like pathology in Down syndrome. Isolation and characterization of the gene at this locus may yield new insights into the nature of the defect causing familial Alzheimer's disease and possibly, into the etiology of all forms of Alzheimer's disease.

Collective identity and wellbeing of Roma minority adolescents in Bulgaria.

Science.gov (United States)

Dimitrova, Radosveta; Chasiotis, Athanasios; Bender, Michael; van de Vijver, Fons

2013-01-01

In Europe and particularly in Bulgaria, Roma represent the largest low-status minority group that is subjected to marked public intolerance and discrimination. This study examined links among Roma (N = 207) and Bulgarian (N = 399) adolescents' ethnic, familial, and religious identities as salient identity aspects for their psychological wellbeing. Results indicated that, as expected, Roma youth reported lower levels of wellbeing than Bulgarian youth. The latter revealed a weaker religious identity than Roma youth, whereas no ethnic group differences emerged regarding Bulgarian or familial identity. Furthermore, we observed that collective identity was higher in older participants of both groups. Finally, a multigroup analysis using structural equation modeling showed that collective identity was a positive predictor of wellbeing for both Roma and Bulgarian adolescents. Findings demonstrated differences in salience as well as structural communalities regarding ways in which collective identity affects wellbeing of youth from two ethnically diverse communities.

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

2011-01-01

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.…

Efficacy of Rosuvastatin in Children With Homozygous Familial Hypercholesterolemia and Association With Underlying Genetic Mutations

NARCIS (Netherlands)

Stein, Evan A.; Dann, Eldad J.; Wiegman, Albert; Skovby, Flemming; Gaudet, Daniel; Sokal, Etienne; Charng, Min-Ji; Mohamed, Mafauzy; Luirink, Ilse; Raichlen, Joel S.; Sundén, Mattias; Carlsson, Stefan C.; Raal, Frederick J.; Kastelein, John J. P.

2017-01-01

BACKGROUND Homozygous familial hypercholesterolemia (HoFH), a rare genetic disorder, is characterized by extremely elevated levels of low-density lipoprotein cholesterol (LDL-C) and accelerated atherosclerotic cardiovascular disease. Statin treatment starts at diagnosis, but no statin has been

Genetic heritage and native identity of the Seaconke Wampanoag tribe of Massachusetts.

Science.gov (United States)

Zhadanov, Sergey I; Dulik, Matthew C; Markley, Michael; Jennings, George W; Gaieski, Jill B; Elias, George; Schurr, Theodore G

2010-08-01

The name "Wampanoag" means "Eastern People" or "People of the First Light" in the local dialect of the Algonquian language. Once extensively populating the coastal lands and neighboring islands of the eastern United States, the Wampanoag people now consist of two federally recognized tribes, the Aquinnah and Mashpee, the state-recognized Seaconke Wampanoag tribe, and a number of bands and clans in present-day southern Massachusetts. Because of repeated epidemics and conflicts with English colonists, including King Philip's War of 1675-76, and subsequent colonial laws forbidding tribal identification, the Wampanoag population was largely decimated, decreasing in size from as many as 12,000 individuals in the 16th century to less than 400, as recorded in 1677. To investigate the influence of the historical past on its biological ancestry and native cultural identity, we analyzed genetic variation in the Seaconke Wampanoag tribe. Our results indicate that the majority of their mtDNA haplotypes belongs to West Eurasian and African lineages, thus reflecting the extent of their contacts and interactions with people of European and African descent. On the paternal side, Y-chromosome analysis identified a range of Native American, West Eurasian, and African haplogroups in the population, and also surprisingly revealed the presence of a paternal lineage that appears at its highest frequencies in New Guinea and Melanesia. Comparison of the genetic data with genealogical and historical information allows us to reconstruct the tribal history of the Seaconke Wampanoag back to at least the early 18th century. Copyright 2010 Wiley-Liss, Inc.

Sexual Motivations and Ideals Distinguish Sexual Identities within the Self-Concept: A Multidimensional Scaling Analysis

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Celeste Sangiorgio

2014-04-01

Full Text Available Many studies explore when and how young people make sexual choices but few empirical investigations link their sexual motivations with their inner conceptions about their sexual identities. We used multidimensional scaling (MDS analysis to connect young adult participants’ (N = 128 self-descriptions of twelve identities to their sexual motivations and ideals. Identities clustered along two semantically distinct dimensions: Dimension 1 was anchored by family identities on one side and non-family identities on the other; Dimension 2 was anchored on one side by friend/romantic relationships and achievement-based social identities on the other. Those who cited intimacy (e.g., sex as an expression of love and enhancement (e.g., gratification; to feel good sexual motivations were more likely to describe their sexual identities and gender identities as distinct from other identities, especially for women. Idealizing physically passionate relationships was positively linked to a higher distinction between sexual and non-sexual identities, and between gender and personal identities and family identities. The mental structuring of identities may inform sexual relationship motives, ideals, and expectations.

The Development of Sex Role Stereotypes in the Third Year: Relationships to Gender Labeling, Gender Identity, Sex-Typed Toy Preference, and Family Characteristics.

Science.gov (United States)

Weinraub, Marsha; And Others

1984-01-01

The onset and development of preschoolers' awareness of sex role stereotypes, gender labeling, gender identity, and sex-typed toy preference were explored in 26-, 31-, and 36-month-old children. Family characteristics that affect early sex role development also were investigated. (Author/RH)

Intersectional Identity Negotiation: The Case of Young Immigrant Children

Science.gov (United States)

Compton-Lilly, Catherine; Papoi, Kristin; Venegas, Patricia; Hamman, Laura; Schwabenbauer, Briana

2017-01-01

We cast our lens on intersectional networks of identity negotiated by young children in immigrant families. Although some scholars discuss identity construction, we reference identity negotiation to capture the active, strategic, and agential work that we witnessed in our study. We begin by synthesizing relevant research on children's identity…

Primary Identity in Literature

DEFF Research Database (Denmark)

Graham, Brian Russell

In our times, literary criticism, as well as larger political and cultural developments, is characterized by identity politics, meaning that our discourses are structured around the notion of different socially identifiable populations in society. In relation to literature, this results in our...... viewing the characters in literature in terms of these political identities. Literature is consequently discussed in relation to political causes. Literary criticism is animated by the same causes, and is viewed as having a direct intervention in society in relation to them. In this paper, I will discuss......, in relation to Frye’s works, the idea that the primary identities of characters in literature were and, to a considerable extent, continue to be those of family-member identities. As such, literature should not be appropriated to a political context too readily. Whereas viewing characters in terms of...

The role of aggressive personality and family relationships in explaining family conflict.

Science.gov (United States)

Horwitz, Briana N; Ganiban, Jody M; Spotts, Erica L; Lichtenstein, Paul; Reiss, David; Neiderhiser, Jenae M

2011-04-01

This study investigated whether genetic and environmental influences on global family conflict are explained by parents' personality, marital quality, and negative parenting. The sample comprised 876 same-sex pairs of twins, their spouses, and one adolescent child per twin from the Twin and Offspring Study in Sweden. Genetic influences on aggressive personality were correlated with genetic influences on global family conflict. Nonshared environmental influences on marital quality and negative parenting were correlated with nonshared environmental influences on global family conflict. Results suggest that parents' personality and unique experiences within their family relationships are important for understanding genetic and environmental influences on global conflict in the home.

Genetic Analysis of earl field growth of loblolly pine clones and seedlings from the same full-sib families

Science.gov (United States)

Brian Baltunis; Dudley Huber; Tim Wite

2006-01-01

The Forest Biology Research Cooperative recently established a series of loblolly pine clonal trials known as CCLONES (Comparing Clonal Lines on Experimental Sites). There are three primary levels of genetic structure in this study (parental, full-sib family, clone) that strengthen the power of CCLONES for examining genetic mechanisms and interactions with cultural...

A SImplified method for Segregation Analysis (SISA) to determine penetrance and expression of a genetic variant in a family.

Science.gov (United States)

Møller, Pål; Clark, Neal; Mæhle, Lovise

2011-05-01

A method for SImplified rapid Segregation Analysis (SISA) to assess penetrance and expression of genetic variants in pedigrees of any complexity is presented. For this purpose the probability for recombination between the variant and the gene is zero. An assumption is that the variant of undetermined significance (VUS) is introduced into the family once only. If so, all family members in between two members demonstrated to carry a VUS, are obligate carriers. Probabilities for cosegregation of disease and VUS by chance, penetrance, and expression, may be calculated. SISA return values do not include person identifiers and need no explicit informed consent. There will be no ethical complications in submitting SISA return values to central databases. Values for several families may be combined. Values for a family may be updated by the contributor. SISA is used to consider penetrance whenever sequencing demonstrates a VUS in the known cancer-predisposing genes. Any family structure at hand in a genetic clinic may be used. One may include an extended lineage in a family through demonstrating the same VUS in a distant relative, and thereby identifying all obligate carriers in between. Such extension is a way to escape the selection biases through expanding the families outside the clusters used to select the families. © 2011 Wiley-Liss, Inc.

The Transmission Disequilibrium/Heterogeneity Test with Parental-Genotype Reconstruction for Refined Genetic Mapping of Complex Diseases

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Jing Han

2012-01-01

Full Text Available In linkage analysis for mapping genetic diseases, the transmission/disequilibrium test (TDT uses the linkage disequilibrium (LD between some marker and trait loci for precise genetic mapping while avoiding confounding due to population stratification. The sib-TDT (S-TDT and combined-TDT (C-TDT proposed by Spielman and Ewens can combine data from families with and without parental marker genotypes (PMGs. For some families with missing PMG, the reconstruction-combined TDT (RC-TDT proposed by Knapp may be used to reconstruct missing parental genotypes from the genotypes of their offspring to increase power and to correct for potential bias. In this paper, we propose a further extension of the RC-TDT, called the reconstruction-combined transmission disequilibrium/heterogeneity (RC-TDH test, to take into account the identical-by-descent (IBD sharing information in addition to the LD information. It can effectively utilize families with missing or incomplete parental genetic marker information. An application of this proposed method to Genetic Analysis Workshop 14 (GAW14 data sets and extensive simulation studies suggest that this approach may further increase statistical power which is particularly valuable when LD is unknown and/or when some or all PMGs are not available.

Genetics Home Reference: familial candidiasis

Science.gov (United States)

... Facebook Twitter Home Health Conditions Familial candidiasis Familial candidiasis Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Familial candidiasis is an inherited tendency to develop infections caused ...

Developmental and genetic determinants of leadership role occupancy among women.

Science.gov (United States)

Arvey, Richard D; Zhang, Zhen; Avolio, Bruce J; Krueger, Robert F

2007-05-01

The genetic and developmental influences on leadership role occupancy were investigated using a sample of 178 fraternal and 214 identical female twins. Two general developmental factors were identified, one involving formal work experiences and the other a family experiences factor hypothesized to influence whether women move into positions of leadership in organizations. Results indicated that 32% of the variance in leadership role occupancy was associated with heritability. The 2 developmental factors also showed significant correlations with leadership role occupancy. However, after genetic factors were partialed out, only the work experience factor was significantly related to leadership role occupancy. Results are discussed in terms of prior life events and experiences that may trigger leadership development and the limitations of this study. 2007 APA, all rights reserved

Point mutation in the MITF gene causing Waardenburg syndrome type II in a three-generation Indian family.

Science.gov (United States)

Lalwani, A K; Attaie, A; Randolph, F T; Deshmukh, D; Wang, C; Mhatre, A; Wilcox, E

1998-12-04

Waardenburg syndrome (WS) is an autosomal-dominant neural crest cell disorder phenotypically characterized by hearing impairment and disturbance of pigmentation. A presence of dystopia canthorum is indicative of WS type 1, caused by loss of function mutation in the PAX3 gene. In contrast, type 2 WS (WS2) is characterized by normally placed medial canthi and is genetically heterogeneous; mutations in MITF (microphthalmia associated transcription factor) associated with WS2 have been identified in some but not all affected families. Here, we report on a three-generation Indian family with a point mutation in the MITF gene causing WS2. This mutation, initially reported in a Northern European family, creates a stop codon in exon 7 and is predicted to result in a truncated protein lacking the HLH-Zip or Zip structure necessary for normal interaction with its target DNA motif. Comparison of the phenotype between the two families demonstrates a significant difference in pigmentary disturbance of the eye. This family, with the first documented case of two unrelated WS2 families harboring identical mutations, provides additional evidence for the importance of genetic background on the clinical phenotype.

Genetic Linkage Analysis of the DFNB21 Locus in Autosomal Recessive Hearing Loss in Large Families from Khuzestan Province

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Mahtab Khosrofar

2017-06-01

Full Text Available Abstract Background: Hearing loss (HL is the most common congenital defect in humans. One or two in thousand newborn babies have prelingual hearing loss. Autosomal recessive non-syndromic hearing loss (ARNSHL is the most common form of hereditary deafness. Hearing loss is more common in the developing countries which is due to genetic and environmental (cultural -health factors reasons. HL has a wide range of clinical demonstrations including: congenital or late onset, conductive or sensory-neural, syndromic or non-syndromic hearing loss. The goal of this project is to determine the portion of the DFNB21 (TECTA in ARNSHL in families with negative GJB2 gene in Khuzestan province. Materials and Methods: We studied 21 families with ARNSHL with at least 4 patients and negative for GJB2 mutations from Khuzestan province. Genetic linkage analysis was performed using STR markers linked to DFNB21 locus. Results: Following genetic linkage analysis and haplotyping, out of 21 families with ARNSHL, one family showed linkage to the DFNB21 (TECTA locus. Conclusion: The results of this project confirm other studies in Iran and give insight into the most common loci causing ARNSHL in Iran which could be helpful in research and clinic.

Experiencing the genetic body: parents' encounters with pediatric clinical genetics.

Science.gov (United States)

Raspberry, Kelly; Skinner, Debra

2007-01-01

Because of advancements in genetic research and technologies, the clinical practice of genetics is becoming a prevalent component of biomedicine. As the genetic basis for more and more diseases are found, it is possible that ways of experiencing health, illness, identity, kin relations, and the body are becoming geneticized, or understood within a genetic model of disease. Yet, other models and relations that go beyond genetic explanations also shape interpretations of health and disease. This article explores how one group of individuals for whom genetic disorder is highly relevant formulates their views of the body in light of genetic knowledge. Using data from an ethnographic study of 106 parents or potential parents of children with known or suspected genetic disorders who were referred to a pediatric genetic counseling and evaluation clinic in the southeastern United States, we find that these parents do, to some degree, perceive of their children's disorders in terms of a genetic body that encompasses two principal qualities: a sense of predetermined health and illness and an awareness of a profound historicity that reaches into the past and extends into the present and future. They experience this genetic body as both fixed and historical, but they also express ideas of a genetic body made less deterministic by their own efforts and future possibilities. This account of parents' experiences with genetics and clinical practice contributes to a growing body of work on the ways in which genetic information and technologies are transforming popular and medical notions of the body, and with it, health, illness, kinship relations, and personal and social identities.

Gender identity development in adolescence.

Science.gov (United States)

Steensma, Thomas D; Kreukels, Baudewijntje P C; de Vries, Annelou L C; Cohen-Kettenis, Peggy T

2013-07-01

This article is part of a Special Issue "Puberty and Adolescence".This article aims to provide an outline of what is currently known on trajectories, and contributing factors to gender identity development in adolescence. We give a historical overview of the concept of gender identity, and describe general identity development in adolescence, gender identity development in the general population and in gender variant youth. Possible psychosocial (such as child and parental characteristics) and biological factors (such as the effects of prenatal exposure to gonadal hormones and the role of genetics) contributing to a gender variant identity are discussed. Studies focusing on a number of psychosocial and biological factors separately, indicate that each of these factors influence gender identity formation, but little is known about the complex interplay between the factors, nor about the way individuals themselves contribute to the process. Research into normative and gender variant identity development of adolescents is clearly lagging behind. However, studies on persons with gender dysphoria and disorders of sex development, show that the period of adolescence, with its changing social environment and the onset of physical puberty, seems to be crucial for the development of a non-normative gender identity. Copyright © 2013 Elsevier Inc. All rights reserved.

Prenatal Genetic Counseling (For Parents)

Science.gov (United States)

... Videos for Educators Search English Español Prenatal Genetic Counseling KidsHealth / For Parents / Prenatal Genetic Counseling What's in ... can they help your family? What Is Genetic Counseling? Genetic counseling is the process of: evaluating family ...

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

International Nuclear Information System (INIS)

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

2012-01-01

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

Limitations and Pitfalls of Using Family Letters to Communicate Genetic Risk: a Qualitative Study with Patients and Healthcare Professionals.

Science.gov (United States)

Dheensa, Sandi; Lucassen, Anneke; Fenwick, Angela

2018-06-01

European genetic testing guidelines recommend that healthcare professionals (HCPs) discuss the familial implications of any test with a patient and offer written material to help them share the information with family members. Giving patients these "family letters" to alert any relatives of their risk has become part of standard practice and has gone relatively unquestioned over the years. Communication with at-risk relatives will become an increasingly pressing issue as mainstream and routine practice incorporates broad genome tests and as the number of findings potentially relevant to relatives increases. This study therefore explores problems around the use of family letters to communicate about genetic risk. We conducted 16 focus groups with 80 HCPs, and 35 interviews with patients, recruited from across the UK. Data were analyzed thematically and we constructed four themes: 1) HCPs writing family letters: how to write them and why?, 2) Patients' issues with handing out family letters, 3) Dissemination becomes an uncontrolled form of communication, and 4) When the relative has the letter, is the patient's and HCP's duty discharged? We conclude by suggesting alternative and supplementary methods of communication, for example through digital tools, and propose that in comparison to communication by family letter, direct contact by HCPs might be a more appropriate and successful option.

Genetic and Environmental Influences on Achievement Outcomes Based on Family History of Learning Disabilities Status.

Science.gov (United States)

Erbeli, Florina; Hart, Sara A; Taylor, Jeanette

2018-05-01

A risk to develop a learning disability has been shown to run in families. Having a positive family history of learning disability seems to account for mean differences in achievement outcomes (reading, math) in that children with a positive family history score significantly lower compared to their peers with no such family history. However, the role of family history status in explaining etiological (genetic and environmental) differences among these subgroups of children has yet to be established. The present study of 872 twins ( M age = 13.30, SD age = 1.40) from the Florida Twin Project on Reading, Behavior, and Environment utilized a multigroup approach to examine etiological differences on reading, spelling, and math among two subgroups defined by family history status. Results showed significant mean differences on all achievement outcomes, aside from math; however, no significant etiological differences on any achievement outcome were found among the two subgroups. Results support previous literature that the risk for developing a learning disability is transmitted through a family, but this is seemingly not manifested by differential etiology.

Horizontal versus familial transmission of Helicobacter pylori.

Directory of Open Access Journals (Sweden)

Sandra Schwarz

2008-10-01

Full Text Available Transmission of Helicobacter pylori is thought to occur mainly during childhood, and predominantly within families. However, due to the difficulty of obtaining H. pylori isolates from large population samples and to the extensive genetic diversity between isolates, the transmission and spread of H. pylori remain poorly understood. We studied the genetic relationships of H. pylori isolated from 52 individuals of two large families living in a rural community in South Africa and from 43 individuals of 11 families living in urban settings in the United Kingdom, the United States, Korea, and Colombia. A 3,406 bp multilocus sequence haplotype was determined for a total of 142 H. pylori isolates. Isolates were assigned to biogeographic populations, and recent transmission was measured as the occurrence of non-unique isolates, i.e., isolates whose sequences were identical to those of other isolates. Members of urban families were almost always infected with isolates from the biogeographic population that is common in their location. Non-unique isolates were frequent in urban families, consistent with familial transmission between parents and children or between siblings. In contrast, the diversity of H. pylori in the South African families was much more extensive, and four distinct biogeographic populations circulated in this area. Non-unique isolates were less frequent in South African families, and there was no significant correlation between kinship and similarity of H. pylori sequences. However, individuals who lived in the same household did have an increased probability of carrying the same non-unique isolates of H. pylori, independent of kinship. We conclude that patterns of spread of H. pylori under conditions of high prevalence, such as the rural South African families, differ from those in developed countries. Horizontal transmission occurs frequently between persons who do not belong to a core family, blurring the pattern of familial

Padua's Muslim: on the new Italian Islamic identities

Directory of Open Access Journals (Sweden)

Agustina Adela Zaros

2015-06-01

Full Text Available The proposed text reflects on the Muslim community and families in Padua including interviews in order to individuate the practices of the transmission of beliefs within the family and the continuity of the group. Mainly from the development of three main points: religious socialization, community representation as umma, according to the mandate of Give to Islam as well of the dichotomy we Muslims / they Christians discourses. Finally, the meanings of identities governed by ethnicity and / or religion and new generations with current debates and struggles identified as new collective identities. That is, the reinterpretation allows the emergence of a new collective identity that makes use of practices that are in tension with the host society emerging like a political force.

Genetics, environment, and asthma associated with celiac disease in the extended family of an affected child.

Science.gov (United States)

Sigala-Robles, R; Aguayo-Patrón, S V; Calderón de la Barca, A M

2017-11-18

Celiac disease (CD) is an autoimmune enteropathy associated with gluten ingestion. In extended families of celiac patients that live in close proximity of one another, shared genetic and environmental factors can predispose them to CD. The aim of this study was to provide evidence about the genetic and environmental factors involved in the development of CD in the extended family of a pediatric patient. The medical history, environmental conditions, and participant weight, height, and peripheral blood samples were evaluated. The HLA-DQ2/DQ8 haplotypes were genotyped through qPCR testing and the IgA anti-gliadin and anti-transglutaminase antibodies were quantified using the ELISA test. Twelve close-living maternal relatives of the index case participated in the study. Eight of them presented with the HLA-DQ2 haplotype, inherited from the grandfather, and 7/12 and 9/12 were positive for IgA anti-gliadin and IgA anti-transglutaminase antibodies, respectively. The main intestinal symptoms stated by the participants were abdominal bloating, excess flatulence, constipation, and gastroesophageal reflux. The most frequent extra-intestinal symptoms were fatigue, stress, and anxiety. In addition, 6/13 participants had bronchial asthma. The extended family living in close proximity of one another shared a genetic predisposition, environmental conditions, and asthma, which could have predisposed them to celiac disease. Copyright © 2017 Asociación Mexicana de Gastroenterología. Publicado por Masson Doyma México S.A. All rights reserved.

Law and Identity

DEFF Research Database (Denmark)

Schmidt, Garbi

2011-01-01

processes of social integration. Within media-based and political debates, transnational marriages are frequently described as practices destructive both to individual freedom and to Danish national identity. Nonetheless, it is a practice in which both minority and majority citizens engage, one that frames...... both their family lives and their lives as citizens. This article analyses the dynamic relationship between public discourse and practices of transnational marriage. The first part describes how political and legislative perceptions of transnational (arranged) marriages are situated within a discussion......' expressions of autonomy and choice and their adaptations of such concepts to understandings of social belonging, inclusion and identity formation vis--vis the Danish nation-state....

Genetic diversity analysis of Chrysopidae family (Insecta, Neuroptera) via molecular markers.

Science.gov (United States)

Yari, Kheirollah; Mirmoayedi, Alinaghi; Marami, Marzieh; Kazemi, Elham; Kahrizi, Danial

2014-09-01

In entomology, improvement of molecular methods would be beneficial tools for accurate identification and detecting the genetic diversity of insect species to discover a corroborative evidence for the traditional classification based on morphology. The aim of this study was focused on RAPD-PCR method for distinguishing the genetic diversity between eight species of Chrysopidae family. In current research, many specimens were collected in different locations of Tehran province (Iran), between them 24 specimens were identified. The wing venation, male genitalia and other morphological characters were used for identification and also the sexing of species was recognized with study of external genitalia. Then, the DNA was extracted with CTAB method. The RAPD-PCR method was carried out with twenty random primers. The agarose gel electrophoresis was used for separation of the PCR products. Based on electrophoresis results, 133 bands were amplified and between them, 126 bands were poly-morph and others were mono-morph. Also, among the applied primers, the primers OPA02 with 19 bands and OPA03 with 8 bands were amplified the maximum and minimum of bands, respectively. The results showed that 80.35 and 73.21 % of genetic similarity existed between Chrysopa pallens-Chrysopa dubitans, and between the Chrysoperla kolthoffi and Chrysoperla carnea, respectively. The minimum (45.53 %) of genetic similarity was observed between C. kolthoffi and C. dubitans, and the maximum (0.80 %) was seen between C. pallens and C. dubitans.

Bilateral Norrie's disease in identical twins.

OpenAIRE

Sukumaran, K

1991-01-01

A case of Norrie's disease in an identical twins is reported. No positive family history was obtained. The couple had no other children. The older of the twins died at the age of 9 months of uncertain cause. To the best of my knowledge this is the first case of Norrie's disease reported in Malaysia. And its occurrence in an identical twins is very rare.

Novel Genetic Variants in BAG3 and TNNT2 in a Swedish Family with a History of Dilated Cardiomyopathy and Sudden Cardiac Death.

Science.gov (United States)

Fernlund, Eva; Österberg, A Wålinder; Kuchinskaya, E; Gustafsson, M; Jansson, K; Gunnarsson, C

2017-08-01

Familial dilated cardiomyopathy is a rare cause of dilated cardiomyopathy (DCM), especially in childhood. Our aim was to describe the clinical course and the genetic variants in a family where the proband was a four-month-old infant presenting with respiratory problems due to DCM. In the family, there was a strong family history of DCM and sudden cardiac death in four generations. DNA was analyzed initially from the deceased girl using next-generation sequencing including 50 genes involved in cardiomyopathy. A cascade family screening was performed in the family after identification of the TNNT2 and the BAG3 variants in the proband. The first-degree relatives underwent clinical examination including biochemistry panel, cardiac ultrasound, Holter ECG, exercise stress test, and targeted genetic testing. The index patient presented with advanced DCM. After a severe clinical course, the baby had external left ventricular assist as a bridge to heart transplantation. 1.5 months after transplantation, the baby suffered sudden cardiac death (SCD) despite maximal treatment in the pediatric intensive care unit. The patient was shown to carry two heterozygous genetic variants in the TNNT2 gene [TNNT2 c.518G>A(p.Arg173Gln)] and BAG3 [BAG3 c.785C>T(p.Ala262Val)]. Two of the screened individuals (two females) appeared to carry both the familial variants. All the individuals carrying the TNNT2 variant presented with DCM, the two adult patients had mild or moderate symptoms of heart failure and reported palpitations but no syncope or presyncopal attacks prior to the genetic diagnosis. The female carriers of TNNT2 and BAG3 variants had more advanced DCM. In the family history, there were three additional cases of SCD due to DCM, diagnosed by autopsy, but no genetic analysis was possible in these cases. Our findings suggest that the variants in TNNT2 and BAG3 are associated with a high propensity to life-threatening cardiomyopathy presenting from childhood and young adulthood.

Genetic Algorithm for Mixed Integer Nonlinear Bilevel Programming and Applications in Product Family Design

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Chenlu Miao

2016-01-01

Full Text Available Many leader-follower relationships exist in product family design engineering problems. We use bilevel programming (BLP to reflect the leader-follower relationship and describe such problems. Product family design problems have unique characteristics; thus, mixed integer nonlinear BLP (MINLBLP, which has both continuous and discrete variables and multiple independent lower-level problems, is widely used in product family optimization. However, BLP is difficult in theory and is an NP-hard problem. Consequently, using traditional methods to solve such problems is difficult. Genetic algorithms (GAs have great value in solving BLP problems, and many studies have designed GAs to solve BLP problems; however, such GAs are typically designed for special cases that do not involve MINLBLP with one or multiple followers. Therefore, we propose a bilevel GA to solve these particular MINLBLP problems, which are widely used in product family problems. We give numerical examples to demonstrate the effectiveness of the proposed algorithm. In addition, a reducer family case study is examined to demonstrate practical applications of the proposed BLGA.

Recruitment of Yoruba families from Nigeria for genetic research: experience from a multisite keloid study.

Science.gov (United States)

Olaitan, Peter B; Odesina, Victoria; Ademola, Samuel; Fadiora, Solomon O; Oluwatosin, Odunayo M; Reichenberger, Ernst J

2014-09-02

More involvement of sub-Saharan African countries in biomedical studies, specifically in genetic research, is needed to advance individualized medicine that will benefit non-European populations. Missing infrastructure, cultural and religious beliefs as well as lack of understanding of research benefits can pose a challenge to recruitment. Here we describe recruitment efforts for a large genetic study requiring three-generation pedigrees within the Yoruba homelands of Nigeria. The aim of the study was to identify genes responsible for keloids, a wound healing disorder. We also discuss ethical and logistical considerations that we encountered in preparation for this research endeavor. Protocols for this bi-national intercultural study were approved by the Institutional Review Board (IRB) in the US and the ethics committees of the Nigerian institutions for consideration of cultural differences. Principles of community based participatory research were employed throughout the recruitment process. Keloid patients (patient advisors), community leaders, kings/chiefs and medical directors were engaged to assist the research teams with recruitment strategies. Community meetings, church forums, and media outlets (study flyers, radio and TV announcements) were utilized to promote the study in Nigeria. Recruitment of research participants was conducted by trained staff from the local communities. Pedigree structures were re-analyzed on a regular basis as new family members were recruited and recruitment challenges were documented. Total recruitment surpassed 4200 study participants over a 7-year period including 79 families with complete three-generation pedigrees. In 9 families more than 20 family members participated, however, in 5 of these families, we encountered issues with pedigree structure as members from different branches presented inconsistent family histories. These issues were due to the traditional open family structure amongst the Yoruba and by beliefs in

Sardinian Population (Italy): a Genetic Review

African Journals Online (AJOL)

thou

, according to the classification suggested by Contini (1979). The genetic ... and to have maintained a genetic identity through their evolution: the cluster constituted ...... HLA class II haplotypes reveals that the Sardinian population is genetically.

Testing for direct genetic effects using a screening step in family-based association studies

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Sharon M Lutz

2013-11-01

Full Text Available In genome wide association studies (GWAS, families based studies tend to have less power to detect genetic associations than population based studies, such as case-control studies. This can be an issue when testing if genes in a family based GWAS have a direct effect on the phenotype of interest or if the genes act indirectly through a secondary phenotype. When multiple SNPs are tested for a direct effect in the family based study, a screening step can be used to minimize the burden of multiple comparisons in the causal analysis. We propose a 2-stage screening step that can be incorporated into the family based association test (FBAT approach similar to the conditional mean model approach in the VanSteen-algorithm [1]. Simulations demonstrate that the type 1 error is preserved and this method is advantageous when multiple markers are tested. This method is illustrated by an application to the Framingham Heart Study.

Genetic Linkage Analysis of DFNB2 Locus with Autosomal Recessive Hearing Loss in Families Negative for GJB2 Mutations in Khuzestan Province

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Parisa Tahmasebi

2016-09-01

Full Text Available Abstract Background: Hearing loss is a common sensory impairment in humans which half of its causes are genetic reasons. Genetic hearing loss can be divided into the two types of syndromic and non-syndromic, which 80% of non-syndromic cases is Autosomal Recessive Non-Syndromic Hearing Loss. The aim of the present research is to determine the contribution of DFNB2 locus (MYO7A gene in causing an autosomal recessive hearing loss in the one group of the deaf families of Khuzestan province. Materials and Methods: This study was conducted on 26 families with autosomal recessive hearing loss (with 4 patients and negative for GJB2 mutations in Khuzestan province. 22 families suffered from ARNSHL and 4 families suffered from Usher syndrome. Linkage analysis was performed by using STR (Short Tandem Repeat markers related to DFNB2 locus. Each family’s genotype was determined by PCR-PAGE method. Furthermore, haplotypes drawing and LOD score calculations were performed. Results: From 26 families with hearing loss participating in this research, following genetic linkage analysis and haplotypes drawing, two families (7.7% of the families showed linkage to DFNB2 locus. One family (4.5% suffered from ARNSHL and another family suffered from Usher syndrome. Conclusion: The results of the present research show that the contribution of DFNB2 locus in causing hearing loss in the population of Khuzestan province was similar to other studies conducted in Iran and this locus with other important loci should be considered to check in the hearing loss panel.

Genetic analysis of an Indian family with members affected with Waardenburg syndrome and Duchenne muscular dystrophy.

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Kapoor, Saketh; Bindu, Parayil Sankaran; Taly, Arun B; Sinha, Sanjib; Gayathri, Narayanappa; Rani, S Vasantha; Chandak, Giriraj Ratan; Kumar, Arun

2012-01-01

Waardenburg syndrome (WS) is characterized by sensorineural hearing loss and pigmentation defects of the eye, skin, and hair. It is caused by mutations in one of the following genes: PAX3 (paired box 3), MITF (microphthalmia-associated transcription factor), EDNRB (endothelin receptor type B), EDN3 (endothelin 3), SNAI2 (snail homolog 2, Drosophila) and SOX10 (SRY-box containing gene 10). Duchenne muscular dystrophy (DMD) is an X-linked recessive disorder caused by mutations in the DMD gene. The purpose of this study was to identify the genetic causes of WS and DMD in an Indian family with two patients: one affected with WS and DMD, and another one affected with only WS. Blood samples were collected from individuals for genomic DNA isolation. To determine the linkage of this family to the eight known WS loci, microsatellite markers were selected from the candidate regions and used to genotype the family. Exon-specific intronic primers for EDN3 were used to amplify and sequence DNA samples from affected individuals to detect mutations. A mutation in DMD was identified by multiplex PCR and multiplex ligation-dependent probe amplification method using exon-specific probes. Pedigree analysis suggested segregation of WS as an autosomal recessive trait in the family. Haplotype analysis suggested linkage of the family to the WS4B (EDN3) locus. DNA sequencing identified a novel missense mutation p.T98M in EDN3. A deletion mutation was identified in DMD. This study reports a novel missense mutation in EDN3 and a deletion mutation in DMD in the same Indian family. The present study will be helpful in genetic diagnosis of this family and increases the mutation spectrum of EDN3.

The importance of identity-by-state information for the accuracy of genomic selection

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Luan Tu

2012-08-01

Full Text Available Abstract Background It is commonly assumed that prediction of genome-wide breeding values in genomic selection is achieved by capitalizing on linkage disequilibrium between markers and QTL but also on genetic relationships. Here, we investigated the reliability of predicting genome-wide breeding values based on population-wide linkage disequilibrium information, based on identity-by-descent relationships within the known pedigree, and to what extent linkage disequilibrium information improves predictions based on identity-by-descent genomic relationship information. Methods The study was performed on milk, fat, and protein yield, using genotype data on 35 706 SNP and deregressed proofs of 1086 Italian Brown Swiss bulls. Genome-wide breeding values were predicted using a genomic identity-by-state relationship matrix and a genomic identity-by-descent relationship matrix (averaged over all marker loci. The identity-by-descent matrix was calculated by linkage analysis using one to five generations of pedigree data. Results We showed that genome-wide breeding values prediction based only on identity-by-descent genomic relationships within the known pedigree was as or more reliable than that based on identity-by-state, which implicitly also accounts for genomic relationships that occurred before the known pedigree. Furthermore, combining the two matrices did not improve the prediction compared to using identity-by-descent alone. Including different numbers of generations in the pedigree showed that most of the information in genome-wide breeding values prediction comes from animals with known common ancestors less than four generations back in the pedigree. Conclusions Our results show that, in pedigreed breeding populations, the accuracy of genome-wide breeding values obtained by identity-by-descent relationships was not improved by identity-by-state information. Although, in principle, genomic selection based on identity-by-state does not require

Sex and genetic effects on upper and lower body fat and associations with diabetes in multigenerational families of African heritage.

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Miljkovic-Gacic, Iva; Wang, Xiaojing; Kammerer, Candace M; Bunker, Clareann H; Patrick, Alan L; Wheeler, Victor W; Kuller, Lewis H; Evans, Rhobert W; Zmuda, Joseph M

2008-06-01

Very few studies have comprehensively defined the genetic and environmental influences on body fat storage in the arms and legs and their association with diabetes, especially in families of African heritage. We analyzed body fat distribution by dual-energy x-ray absorptiometry (percentage total fat, percentage trunk fat, percentage arm fat, and percentage leg fat) and fasting serum glucose in 471 individuals (mean age, 43 years) from 8 multigenerational Afro-Caribbean families (mean family size = 51; 3535 relative pairs). Diabetes was inversely associated with percentage leg fat (P = .009) and, to some extent, positively associated with percentage arm fat independent of age, sex, and body size (P = .08), but not with anthropometric or dual-energy x-ray absorptiometric measures of total and central adiposity. Furthermore, percentage leg fat was inversely, whereas percentage arm fat was positively, associated with body mass index, waist circumference, and serum glucose (P Genetic correlation (rho(G)) between arm and leg fat was -0.61 (P genetic influences. This study provides new evidence for a strong genetic and sex contribution to upper and lower body fat, with relatively little covariation between these traits due to shared genes. Our findings also suggest that, in this population, leg fat is associated with diabetes independent of overall adiposity.

Association between intake of dairy products and short-term memory with and without adjustment for genetic and family environmental factors: A twin study.

Science.gov (United States)

Ogata, Soshiro; Tanaka, Haruka; Omura, Kayoko; Honda, Chika; Hayakawa, Kazuo

2016-04-01

Previous studies have indicated associations between intake of dairy products and better cognitive function and reduced risk of dementia. However, these studies did not adjust for genetic and family environmental factors that may influence food intake, cognitive function, and metabolism of dairy product nutrients. In the present study, we investigated the association between intake of dairy products and short-term memory with and without adjustment for almost all genetic and family environmental factors using a genetically informative sample of twin pairs. A cross-sectional study was conducted among twin pairs aged between 20 and 74. Short-term memory was assessed as primary outcome variable, intake of dairy products was analyzed as the predictive variable, and sex, age, education level, marital status, current smoking status, body mass index, dietary alcohol intake, and medical history of hypertension or diabetes were included as possible covariates. Generalized estimating equations (GEE) were performed by treating twins as individuals and regression analyses were used to identify within-pair differences of a twin pair to adjust for genetic and family environmental factors. Data are reported as standardized coefficients and 95% confidence intervals (CI). Analyses were performed on data from 78 men and 278 women. Among men, high intake of dairy products was significantly associated with better short-term memory after adjustment for the possible covariates (standardized coefficients = 0.22; 95% CI, 0.06-0.38) and almost all genetic and family environmental factors (standardized coefficients = 0.38; 95% CI, 0.07-0.69). Among women, no significant associations were found between intake of dairy products and short-term memory. Subsequent sensitivity analyses were adjusted for small samples and showed similar results. Intake of dairy product may prevent cognitive declines regardless of genetic and family environmental factors in men. Copyright © 2015 Elsevier Ltd

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

Energy Technology Data Exchange (ETDEWEB)

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

2012-09-07

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

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

Directory of Open Access Journals (Sweden)

C.L.M. Forjaz

2012-12-01

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

Search for consanguinity within and among families of patients with trichothiodystrophy associated with xeroderma pigmentosum.

Science.gov (United States)

Nuzzo, F; Zei, G; Stefanini, M; Colognola, R; Santachiara, A S; Lagomarsini, P; Marinoni, S; Salvaneschi, L

1990-01-01

The association of two rare hereditary disorders, trichothiodystrophy (TTD) and xeroderma pigmentosum (XP), was found in four patients from three families, apparently unrelated but living in the same geographical area. In order to test the hypothesis of a common ancestor, consanguinity within and among the families was checked using three different approaches: reconstruction of genealogical trees, typing of blood markers, and surname analysis. The results of the three types of analyses strengthen the hypothesis that, in at least two out of the three families, the genetic defect determining the TTD/XP phenotype is identical by descent, as a consequence of remote inbreeding. This implies that if two mutations are responsible for the two diseases they are at linked loci or affect the same gene. PMID:2308151

Identity of Fasciola spp. in sheep in Egypt.

Science.gov (United States)

Amer, Said; ElKhatam, Ahmed; Zidan, Shereif; Feng, Yaoyu; Xiao, Lihua

2016-12-01

In Egypt, liver flukes, Fasciola spp. (Digenea: Fasciolidae), have a serious impact on the farming industry and public health. Both Fasciola hepatica and Fasciola gigantica are known to occur in cattle, providing the opportunity for genetic recombination. Little is known on the identity and genetic variability of Fasciola populations in sheep. This study was performed to determine the prevalence of liver flukes in sheep in Menofia Province as a representative area of the delta region in Egypt, as measured by postmortem examination of slaughtered animals at three abattoirs. The identity and genetic variability of Fasciola spp. in slaughtered animals were determined by PCR-sequence analysis of the nuclear ribosomal internal transcribed spacer 1 (ITS1) and the mitochondrial NADH dehydrogenase subunit 1 (nad1) genes. Physical inspection of the liver indicated that 302 of 2058 (14.7%) slaughtered sheep were infected with Fasciola spp. Sequence analysis of the ITS1 and nad1 genes of liver flukes from 17 animals revealed that 11 animals were infected with F. hepatica, four with F. gigantica, and two with both species. Seventy eight of 103 flukes genetically characterized from these animals were F. hepatica, 23 were F. gigantica, and two had ITS1 sequences identical to F. hepatica but nad1 sequences identical to F. gigantica. nad1 sequences of Egyptian isolates of F. gigantica showed pronounced differences from those in the GenBank database. Egyptian F. gigantica haplotypes formed haplogroup D, which clustered in a sister clade with haplogroups A, B and C circulating in Asia, indicating the existence of geographic isolation in the species. Both F. hepatica and F. gigantica are prevalent in sheep in Egypt and an introgressed form of the two occurs as the result of genetic recombination. In addition, a geographically isolated F. gigantica population is present in the country. The importance of these observations in epidemiology of fascioliasis needs to be examined in future

Stories we live, identities we build: how are elementary teachers' science identities shaped by their lived experiences?

Science.gov (United States)

Avraamidou, Lucy

2018-02-01

The aim of this multiple case study was to uncover a series of critical events and experiences related to the formation of the science identities of four beginning elementary female teachers, through a life-history approach and a conceptualization of teacher identity as lived experience. Grounded within the theoretical framework of Figured Worlds, the study used qualitative, interpretive methods for data collection (interviews, biographies, teaching philosophies) and analysis. The analysis shed light on the ways in which various experiences situated within different Figured Worlds (science, family and childhood, schooling, out-of-school, university, professional) impacted the participants' identity trajectories. The findings provided three main insights that contribute to science identity research and have implications for elementary teacher preparation: (a) science teacher identity is multidimensional and extends beyond cognitive domains of becoming to include affective dimensions; (b) science teacher identity is relational, linked and shaped by various other constructs or sub-identities; (c) place and time, defined as a space with meaning created by experiences, and science teacher identity are inextricably bound to one another.

Prenatal diagnosis and genetic counseling in a case of spina bifida in a family with Waardenburg syndrome type I.

Science.gov (United States)

Kujat, Annegret; Veith, Veit-Peter; Faber, Renaldo; Froster, Ursula G

2007-01-01

Waardenburg syndrome type I (WS I) is an autosomal dominant inherited disorder with an incidence of 1:45,000 in Europe. Mutations within the PAX3 gene are responsible for the clinical phenotype ranging from mild facial features to severe malformations detectable in prenatal diagnosis. Here, we report a four-generation family with several affected members showing various symptoms of WS I. We diagnosed the syndrome first in a pregnant young woman; she was referred because of a spina bifida in prenatal diagnosis. We performed clinical genetic investigations and molecular genetic analysis in all available family members. The phenotype displays a wide intra-familial clinical variability of pigmentary disturbances, facial anomalies and developmental defects. Molecular studies identified a novel splice site mutation within the PAX3 gene in intron 5 in all affected family members, but in none of the unaffected relatives. This case demonstrates the prenatal diagnosis of spina bifida in a fetus which leads to the initial diagnosis of WS I. Further studies could identify a private splice site mutation within the PAX3 gene responsible for the phenotype in this family.

Limitations and pitfalls of using family letters to communicate genetic risk: a qualitative study with patients and healthcare professionals

OpenAIRE

Dheensa, Sandeep; Lucassen, Anneke; Fenwick, Angela

2017-01-01

European genetic testing guidelines recommend that healthcare professionals (HCPs) discuss the familial implications of any test with a patient and offer written material to help them share the information with family members. Giving patients these “family letters” to alert any relatives of their risk has become part of standard practice and has gone relatively unquestioned over the years. Communication with at-risk relatives will become an increasingly pressing issue as mainstream and routin...

Melanoma genetics

DEFF Research Database (Denmark)

Read, Jazlyn; Wadt, Karin A W; Hayward, Nicholas K

2015-01-01

Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development are somatic, the underlying presence of herita......Approximately 10% of melanoma cases report a relative affected with melanoma, and a positive family history is associated with an increased risk of developing melanoma. Although the majority of genetic alterations associated with melanoma development are somatic, the underlying presence...... in a combined total of approximately 50% of familial melanoma cases, the underlying genetic basis is unexplained for the remainder of high-density melanoma families. Aside from the possibility of extremely rare mutations in a few additional high penetrance genes yet to be discovered, this suggests a likely...... polygenic component to susceptibility, and a unique level of personal melanoma risk influenced by multiple low-risk alleles and genetic modifiers. In addition to conferring a risk of cutaneous melanoma, some 'melanoma' predisposition genes have been linked to other cancers, with cancer clustering observed...

A longitudinal examination of parenting behaviors and perceived discrimination predicting Latino adolescents' ethnic identity.

Science.gov (United States)

Umaña-Taylor, Adriana J; Guimond, Amy B

2010-05-01

Characteristics of the familial and societal context were examined as predictors of Latino adolescents' (N = 323; 49.5% female) ethnic identity. Consistent with previous work, familial ethnic socialization significantly predicted future levels of ethnic identity exploration, resolution, and affirmation for both male adolescents and female adolescents, although the association was significantly stronger for female adolescents than male adolescents for exploration and resolution. Furthermore, for male adolescents, higher levels of familial ethnic socialization were significantly associated with a faster rate of growth for ethnic identity resolution. In addition, paternal warmth-support emerged as a significant longitudinal predictor of male adolescents', but not female adolescents', ethnic identity exploration. Finally, perceived discrimination was significantly associated with male adolescents', but not female adolescents', ethnic identity exploration and affirmation. Significant gender differences in the relations of interest highlight the need to consider variability in the process of ethnic identity formation by gender. 2010 APA, all rights reserved

New inquiries related to mestizo identity

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Patricia Echeverri Posada

2003-01-01

Full Text Available Psychoanalysis offers an interpretive framework for the understanding of mestizo identity. The spheres of law and of values serve as the symbolic reference for the construction of this identity. Institutions such as the church, state, and family act as vehicles for transmitting these values, building from them a mestizo imaginary that is re-created in the workplace, beliefs, social opportunities, and in everyday life. The mestizo responds to these social demands that influence his or her social self with values adjusted to his or her reality and re-signified from particular family and cultural histories, which are not exempt from conflict. The Province of Santafé in the second half of the nineteenth century serves as the backdrop to offer reflections on this issue

Narrative Therapy's Relational Understanding of Identity.

Science.gov (United States)

Combs, Gene; Freedman, Jill

2016-06-01

We describe how we think of identity as relational, distributed, performed, and fluid, and we illustrate the use of this conceptualization within a narrative worldview. Drawing on the work of Michael White, we describe how this relational view of identity leads to therapeutic responses that give value to interconnection across multiple contexts and that focus on becoming rather than on being. We show how a narrative worldview helps focus on the relational, co-evolving perspective that was the basis of our early attraction to family therapy. We offer detailed examples from our work of practices that help us stay firmly situated in a relational worldview that is counter to the pervasive influence of individualism in our contemporary culture. © 2016 Family Process Institute.

Population genetic characterization and family reconstruction in brood bank collections of the Indian major carp Labeo rohita (Cyprinidae:Cypriniformes).

Science.gov (United States)

Ullah, Ashraf; Basak, Abhisak; Islam, Md Nazrul; Alam, Md Samsul

2015-01-01

The founder stock of a captive breeding program is prone to changes in genetic structure due to inbreeding and genetic drift. Genetic characterization of the founder population using suitable molecular markers may help monitor periodic changes in the genetic structure in future. To develop benchmark information about the genetic structure we analyzed six microsatellite loci in the Brodbank collections of rohu (Labeo rohita) originated from three major rivers-the Jamuna, the Padma and the Halda. A total of 28 alleles were detected in 90 individuals with an average of 4.6 alleles per locus. The average observed heterozygosity ranged from 0.655 to 0.705 and the expected heterozygosity ranged from 0.702 to 0.725. The mean F IS values were 0.103, 0.106 and 0.018 for the Jamuna, Padma and Halda fishes respectively. The population pair-wise F ST values ranged from 0.0057 to 0.0278. Structure analysis grouped the fishes of the three rivers into two clusters. The numbers of half-sib families were 5, 5 and 4 and the numbers of full-sib families were 12, 10 and 18 for the Halda, Jamuna and the Padma samples respectively. Bottleneck was detected in all the river samples. We recommend to collect more fish from different locations of the major rivers to broaden the genetic variability of the founder stocks of the Brood bank.

Prevalence and healthcare actions of women in a large health system with a family history meeting the 2005 USPSTF recommendation for BRCA genetic counseling referral.

Science.gov (United States)

Bellcross, Cecelia A; Leadbetter, Steven; Alford, Sharon Hensley; Peipins, Lucy A

2013-04-01

In 2005, the United States Preventive Services Task Force (USPSTF) released guidelines which outlined specific family history patterns associated with an increased risk for BRCA1/2 mutations, and recommended at-risk individuals be referred for genetic counseling and evaluation for BRCA testing. The purpose of this study was to assess the prevalence of individuals with a USPSTF increased-risk family history pattern, the frequency with which specific patterns were met, and resulting healthcare actions among women from the Henry Ford Health System. As part of a study evaluating ovarian cancer risk perception and screening, 2,524 randomly selected participants completed a detailed interview (response rate 76%) from an initial eligible cohort of 16,720 women. Approximately 6% of participants had a family history fulfilling one or more of the USPSTF patterns. Although 90% of these women had shared their family history with their provider, less than 20% had been referred for genetic counseling and only 8% had undergone genetic testing. Caucasian women with higher income and education levels were more likely to receive referrals. Among the 95 participants in the total study cohort who reported BRCA testing, 78% did not have a family history that met one of the USPSTF patterns. These results suggest a higher prevalence of women with an increased-risk family history than originally predicted by the USPSTF, and lack of provider recognition and referral for genetic services. Improvements in healthcare infrastructure and clinician education will be required to realize population level benefits from BRCA genetic counseling and testing.

[Clinical and genetic investigation of families with Waardenburg syndrome type 2].

Science.gov (United States)

Chen, H S; Liao, X B; Liu, Y L; He, C F; Zhang, H; Jiang, L; Feng, Y; Mei, L Y

2016-12-01

Objective: To investigate the clinical chacteration and molecular pathology of Waardenburg syndrome type 2 in seven families, and provide genetic diagnosis and hereditary counseling for family members. Method: Clinical data of seven families with WS2（14 patients）were collected. Peripheral blood samples of the probands and related family members were collected and genomic DNA was extracted. The coding sequences of microphthalmia associated transcription factor (MITF), sex-determining region Y-box 10(SOX10), snail family zinc finger 2 (SNAI2) and endothelin receptor type B（EDNRB）were analyzed by polymerase chain reaction and DNA sequencing. Then the raw data was analyzed. Result: The most common manifestations of WS2 are sensorineural hearing loss(10/14,71.4%), freckle(7/14, 50.0%)，heterochromia iridis(6/14, 42.9%) and premature greying(5/14,35.7%). All the deafness phenotype is congenital, bilateral profound sensorineural hearing loss. Freckles phenotype is different from cutaneous pigment abnormalities of WS in Westerners. The heterozygous mutation, c.328C>T in exon 3 of the MITF gene was detected in the proband and all patients of pedigree 2. However, no pathological mutation of the relevant genes (SOX10,SNAI2 and EDNRB) was detected in other pedigrees. Conclusion: There are obvious variations in clinical features of WS, while freckles may be a special subtype of cutaneous pigment disturbances. The MITF gene mutation, R110X,is therefore considered the disease causing mutation in pedigree WS02.However, there are novel disease causing genes or copy number variations in Waardenburg syndrome type 2, which require further research. Copyright© by the Editorial Department of Journal of Clinical Otorhinolaryngology Head and Neck Surgery.

Nuclear and plastid markers reveal the persistence of genetic identity: a new perspective on the evolutionary history of Petunia exserta.

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Segatto, Ana Lúcia Anversa; Cazé, Ana Luíza Ramos; Turchetto, Caroline; Klahre, Ulrich; Kuhlemeier, Cris; Bonatto, Sandro Luis; Freitas, Loreta Brandão

2014-01-01

Recently divergent species that can hybridize are ideal models for investigating the genetic exchanges that can occur while preserving the species boundaries. Petunia exserta is an endemic species from a very limited and specific area that grows exclusively in rocky shelters. These shaded spots are an inhospitable habitat for all other Petunia species, including the closely related and widely distributed species P. axillaris. Individuals with intermediate morphologic characteristics have been found near the rocky shelters and were believed to be putative hybrids between P. exserta and P. axillaris, suggesting a situation where Petunia exserta is losing its genetic identity. In the current study, we analyzed the plastid intergenic spacers trnS/trnG and trnH/psbA and six nuclear CAPS markers in a large sampling design of both species to understand the evolutionary process occurring in this biological system. Bayesian clustering methods, cpDNA haplotype networks, genetic diversity statistics, and coalescence-based analyses support a scenario where hybridization occurs while two genetic clusters corresponding to two species are maintained. Our results reinforce the importance of coupling differentially inherited markers with an extensive geographic sample to assess the evolutionary dynamics of recently diverged species that can hybridize. Copyright © 2013 Elsevier Inc. All rights reserved.

Genetic anticipation in a special form of hypertrophic cardiomyopathy with sudden cardiac death in a family with 74 members across 5 generations.

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Guo, Xiying; Fan, Chaomei; Wang, Yanping; Wang, Miao; Cai, Chi; Yang, Yinjian; Zhao, Shihua; Duan, Fujian; Li, Yishi

2017-03-01

Hypertrophic cardiomyopathy (HCM) is the most common heritable heart disease. The genetic anticipation of HCM and its associated etiology, sudden cardiac death (SCD), remains unclear. The aim of this study was to investigate the mechanism underlying the genetic anticipation of HCM and associated SCD.An HCM family including 5 generations and 74 members was studied. Two-dimensional echocardiography was performed to diagnose HCM. The age of onset of HCM was defined as the age at first diagnosis according to hospital records. The information on SCD was confirmed by verification by ≥2 family members and a review of hospital records. Whole-genome sequencing was performed on 4 HCM subjects and 1 healthy control in the family. The identified mutations were screened in all available family members and 216 unrelated healthy controls by Sanger sequencing.The median ages of onset of HCM were 63.5, 38.5, and 18.0 years in members of the second, third, and fourth generations of the family, respectively, and the differences between the generations were significant (P anticipation, with a decreased age of onset and increased severity in successive generations. Multiple gene mutations may contribute to genetic anticipation in HCM and thus may be of prognostic value.

Male-Partnered Bisexual Women's Perceptions of Disclosing Sexual Orientation to Family Across the Transition to Parenthood: Intensifying Heteronormativity or Queering Family?

Science.gov (United States)

Goldberg, Abbie E; Allen, Katherine R; Ellawala, Themal; Ross, Lori E

2018-01-01

Drawing from queer and communication privacy management frameworks, this study examines the narratives of 22 bisexual, male-partnered women who were interviewed during the perinatal period and one year postnatally about their disclosures of sexual identity to family of origin. Most women rarely discussed their sexual identity with family; participants who had disclosed described such disclosures as provoking discomfort. Some women stated that their parental status seemed to invalidate the need to talk about their sexual history or identity with family, due its declining salience and increased concerns about judgment. This study reveals how partnership and parenthood statuses contribute to the intensification of heteronormative pressures in relation to family. Therapists should attend to the role of heteronormative values regarding partnering, family-building, and parenting. © 2017 American Association for Marriage and Family Therapy.

Digital photography: communication, identity, memory

NARCIS (Netherlands)

van Dijck, J.

2008-01-01

Taking photographs seems no longer primarily an act of memory intended to safeguard a family's pictorial heritage, but is increasingly becoming a tool for an individual's identity formation and communication. Digital cameras, cameraphones, photoblogs and other multipurpose devices are used to

Native Language as a Core Value which creates the Cross-Cultural Identity

Directory of Open Access Journals (Sweden)

JERZY NIKITOROWICZ

2017-10-01

Full Text Available Th e thesis which is undertaken in this article applies to a native language (the language of the family and home as the leading (primary value of creating a crosscultural identity. To justify this argument, the author refers to his own research and literature in this area. Th ere are many references to the theory of cultural relativism by Sapir-Whorf and the theory of core values by Jerzy Smolicz. Th e author demonstrates, notices, and highlights that the personal and group identity, analysed in terms of evolutionary (processual, based on the values which are recognised and respected in the family, are shaping and developing cross-cultural identity. Th e more we recognize, respect and accept your native (family and home identity, the more we are likely to make an eff ort to get to know the Other and his culture.

Genetic structure of personality factors and bipolar disorder in families segregating bipolar disorder.

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Hare, Elizabeth; Contreras, Javier; Raventos, Henriette; Flores, Deborah; Jerez, Alvaro; Nicolini, Humberto; Ontiveros, Alfonso; Almasy, Laura; Escamilla, Michael

2012-02-01

Bipolar disorder (BPD) has been associated with variations in personality dimensions, but the nature of this relationship has been unclear. In this study, the heritabilities of BPD and the Big Five personality factors and the genetic correlations between BPD and personality factors are reported. The participants in this study were 1073 individuals from 172 families of Mexican or Central American ancestry. Heritabilities and genetic correlations were calculated under a polygenic model using the maximum-likelihood method of obtaining variance components implemented in the SOLAR software package. Heritabilities of 0.49, 0.43, and 0.43 were found for the narrowest phenotype (schizoaffective bipolar and bipolar I), the intermediate phenotype (schizoaffective bipolar, bipolar I, and bipolar II), and the broadest phenotype (schizoaffective bipolar, bipolar I, bipolar II, and recurrent depression), respectively. For the Big Five personality factors, heritabilities were 0.25 for agreeableness, 0.24 for conscientiousness, 0.24 for extraversion, 0.23 for neuroticism, and 0.32 for openness to experience. For the narrowest phenotype, a significant negative correlation (-0.32) with extraversion was found. For the broadest phenotype, negative correlations were found for agreeableness (-0.35), conscientiousness (-0.39), and extraversion (-0.44). A positive correlation (0.37) was found with neuroticism. It is not possible to determine whether aspects of personality are factors in the development of bipolar disorder or vice versa. The short form of the NEO does not provide the ability to examine in detail which facets of extraversion are most closely related to bipolar disorder or to compare our results with studies that have used the long version of the scale. This study establishes a partial genetic basis for the Big Five personality factors in this set of families, while the environmental variances demonstrate that non-genetic factors are also important in their influence on

Genetic diversity of pneumococcal surface protein A in invasive pneumococcal isolates from Korean children, 1991-2016.

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Yun, Ki Wook; Choi, Eun Hwa; Lee, Hoan Jong

2017-01-01

Pneumococcal surface protein A (PspA) is an important virulence factor of pneumococci and has been investigated as a primary component of a capsular serotype-independent pneumococcal vaccine. Thus, we sought to determine the genetic diversity of PspA to explore its potential as a vaccine candidate. Among the 190 invasive pneumococcal isolates collected from Korean children between 1991 and 2016, two (1.1%) isolates were found to have no pspA by multiple polymerase chain reactions. The full length pspA genes from 185 pneumococcal isolates were sequenced. The length of pspA varied, ranging from 1,719 to 2,301 base pairs with 55.7-100% nucleotide identity. Based on the sequences of the clade-defining regions, 68.7% and 49.7% were in PspA family 2 and clade 3/family 2, respectively. PspA clade types were correlated with genotypes using multilocus sequence typing and divided into several subclades based on diversity analysis of the N-terminal α-helical regions, which showed nucleotide sequence identities of 45.7-100% and amino acid sequence identities of 23.1-100%. Putative antigenicity plots were also diverse among individual clades and subclades. The differences in antigenicity patterns were concentrated within the N-terminal 120 amino acids. In conclusion, the N-terminal α-helical domain, which is known to be the major immunogenic portion of PspA, is genetically variable and should be further evaluated for antigenic differences and cross-reactivity between various PspA types from pneumococcal isolates.

Radiological evaluation of familial osteopetrosis

International Nuclear Information System (INIS)

Moon, Moo Chang; Kang, Shin Wha; Won, Jong Jin; Rhee, Song Joo; Choi, Ki Chul

1980-01-01

Authors found 16 patients with benign osteopetrosis out of 62 members of 4 families and analysed these patients clinically, radiologically, hematologically and biochemically at the Department of Radiology, Jeonbug National University Hospital from October 1977 to June 1980. The results are as follows; 1. We obtained that there is evidence of familial tendency in developing osteopetrosis because of the fact that 15 patients (94%) developed in 3 families and more than 2 patients in each family. In genetical point of view we suspected dominant trait of inheritance and could rule out recessive trait because patients were found in successive generations except for one family. There were no consangulneous marriages among the parents of these patients. 2. The majority of patients were adolescent or adult above 10 years of age when the disease was diagnosed. The incidence was identical in both sex. 3. No clinical symptoms and historical abnormalities were found in 11 patients (69%) and 5 patients (31%) showed only mild symptoms. Among 5 patients with clinical symptoms 3 patients showed pathologic fractures. In all 3 patients, fractures occurred only by mild trauma and affected sites were tubular bones and they were transverse type. 4. There were no specific relationship between ABO types and Rh reactions in developing osteopetrosis and no specific findings in hematological, biochemical and routine urinalysis. 5. The only diagnostic finding in most patients were the typical and specific radiological findings

A Longitudinal Examination of Parenting Behaviors and Perceived Discrimination Predicting Latino Adolescents' Ethnic Identity

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Umana-Taylor, Adriana J.; Guimond, Amy B.

2010-01-01

Characteristics of the familial and societal context were examined as predictors of Latino adolescents' (N = 323; 49.5% female) ethnic identity. Consistent with previous work, familial ethnic socialization significantly predicted future levels of ethnic identity exploration, resolution, and affirmation for both male adolescents and female…

Familial pulmonary arterial hypertension, leucopenia, and atrial septal defect: a probable new familial syndrome with multisystem involvement.

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Dursun, Ali; Ozgul, R Koksal; Soydas, Asli; Tugrul, Tugba; Gurgey, Aytemiz; Celiker, Alpay; Barst, Robyn J; Knowles, James A; Mahesh, Mansukhani; Morse, Jane H

2009-01-01

We present two siblings with identical clinical findings that seem to represent a previously unreported familial syndrome. Major findings involve three systems: pulmonary arterial hypertension, cardiac abnormalities including secundum-type atrial septal defect, and the hematopoietic system with intermittent neutropenia, lymphopenia, monocytosis, and anemia. The siblings also shared several minor abnormalities: pectus carinatum, long fingers, proximally placed thumb, broad nasal bridge, and high-arched palate. The male proband also had bilateral inguinal hernias and undescended testes. The same findings in two siblings suggest a genetic cause--either an autosomal recessive disorder or germline mosaicism in one parent for a dominant mutation. Investigations revealed a bone morphogenetic protein receptor 2 polymorphism in intron 4 in only one sibling, which was also present in unaffected maternal relatives.

[Delayed identity development, family relationships and psychopathology: Links between healthy and clinically disturbed youth].

Science.gov (United States)

Seiffge-Krenke, Inge; Escher, Fabian J

2018-05-01

This study compared three groups of various age and health status (total N = 732) with respect to their identity status, stress level, and parental behavior. As expected, patients were characterized by delayed identity development, particularly ruminative exploration. Further, patients experienced high identity stress and described high levels of anxious paternal rearing and intrusive maternal psychological control. The patients‘ levels of both internalizing and externalizing symptomatology were high, and the impact of externalizing symptoms on identity arrest was strong. Identity status was delayed, albeit age adequate in both groups of healthy youths, with comparably high levels of anxious parental monitoring. Compared to adolescents, young adults were particularly active in their identity development, showing a high level of identity stress but no increase in psychopathology.

Epigenetic control of cell identity and plasticity

KAUST Repository

Orlando, Valerio

2014-01-01

The DNA centered dogma for genetic information and cell identity is now evolving into a much more complex and flexible dimension provided by the discovery of the Epigenome. This comprises those chromosome structural and topological components

Founder Fukutin mutation causes Walker-Warburg syndrome in four Ashkenazi Jewish families.

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Chang, Wendy; Winder, Thomas L; LeDuc, Charles A; Simpson, Lynn L; Millar, William S; Dungan, Jeffrey; Ginsberg, Norman; Plaga, Stacey; Moore, Steven A; Chung, Wendy K

2009-06-01

Walker-Warburg syndrome (WWS) is a genetically heterogeneous congenital muscular dystrophy caused by abnormal glycosylation of alpha-dystroglycan (alpha-DG) that is associated with brain malformations and eye anomalies. The Fukutin (FKTN) gene, which causes autosomal recessively inherited WWS is most often associated with Fukuyama congenital muscular dystrophy in Japan. We describe the clinical features of four nonconsanguinous Ashkenazi Jewish families with WWS and identify the underlying genetic basis for WWS. We screened for mutations in POMGnT1, POMT1, POMT2, and FKTN, genes causing WWS, by dideoxy sequence analysis. We identified an identical homozygous c.1167insA mutation in the FKTN gene on a common haplotype in all four families and identified 2/299 (0.7%) carriers for the c.1167insA mutation among normal American Ashkenazi Jewish adults. These data suggest that the c.1167insA FKTN mutation described by us is a founder mutation that can be used to target diagnostic testing and carrier screening in the Ashkenazi Jewish population. Copyright (c) 2009 John Wiley & Sons, Ltd.

[Genetic information and future medicine].

Science.gov (United States)

Sakurai, Akihiro

2012-11-01

Rapid technological advances in genetic analysis have revealed the genetic background of various diseases. Elucidation of the genes responsible for a disease enables better clinical management of the disease and helps to develop targeted drugs. Also, early diagnosis and management of at-risk family members can be made by identification of a genetic disease in the proband. On the other hand, genetic issues often cause psychological distress to the family. To perform genetic testing appropriately and to protect patients and family members from any harm, guidelines for genetic testing were released from the alliance of Japanese genetics-related academic societies in 2003. As genetic testing is becoming incorporated into clinical practice more broadly, the guideline was revised and released by the Japanese Society of Medical Sciences in 2011. All medical professionals in Japan are expected to follow this guideline.

Molecular genetic analysis of consanguineous Pakistani families with autosomal recessive hypohidrotic ectodermal dysplasia.

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Bibi, Nosheen; Ahmad, Saeed; Ahmad, Wasim; Naeem, Muhammad

2011-02-01

Hypohidrotic ectodermal dysplasia is an inherited disorder characterized by defective development of teeth, hairs and sweat glands. X-linked hypohidrotic ectodermal dysplasia is caused by mutations in the EDA gene, and autosomal forms of hypohidrotic ectodermal dysplasia are caused by mutations in either the EDAR or the EDARADD genes. To study the molecular genetic cause of autosomal recessive hypohidrotic ectodermal dysplasia in three consanguineous Pakistani families (A, B and C), genotyping of 13 individuals was carried out by using polymorphic microsatellite markers that are closely linked to the EDAR gene on chromosome 2q11-q13 and the EDARADD gene on chromosome 1q42.2-q43. The results revealed linkage in the three families to the EDAR locus. Sequence analysis of the coding exons and splice junctions of the EDAR gene revealed two mutations: a novel non-sense mutation (p.E124X) in the probands of families A and B and a missense mutation (p.G382S) in the proband of family C. In addition, two synonymous single-nucleotide polymorphisms were also identified. The finding of mutations in Pakistani families extends the body of evidence that supports the importance of EDAR for the development of hypohidrotic ectodermal dysplasia. © 2010 The Authors. Australasian Journal of Dermatology © 2010 The Australasian College of Dermatologists.

Social Worker Identity: A Profession in Context.

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Forenza, Brad; Eckert, Caitlin

2018-01-01

Social work is a broad field encompassing micro, mezzo, and macro areas of practice. Consequently, the field lacks a unifying professional identity due to the expansiveness of the profession. Professional identity is conceptualized as an extension of social identity, vis-à-vis the embodiment of three qualities: connectedness, expansiveness, and effectiveness. This study used 12 in-depth, individual interviews with practicing social workers to explore these qualities. Findings from interviews reveal six primary themes and 21 subthemes pertaining to social worker identity. Themes and subthemes are organized according to three broad families (social work in context, professional trajectories, and external influences). Implications for policy, practice, and future research are presented. © 2017 National Association of Social Workers.

Brief report: do peer relationships matter to Vietnamese adolescents' and young adults' development of identity? Towards a working theory of identity development in a changing culture.

Science.gov (United States)

Nguyen, Huong; Cohen, Edward; Hines, Alice

2012-12-01

In this paper, using data from the first nationally representative, cross-sectional survey of more than 7000 Vietnamese adolescents, we explore how peers, compared to family, matter to Vietnamese adolescents' development of their independent identity as an adult. We use future hopes and aspirations as proxies for identity development, arguing that an individual's development of future hopes and aspirations is a correlate to the emergence of an independent identity. Our analyses show that peers have a positive and consistent influence on adolescents' hopes to have a happy family, good job, good income, and opportunities to do what they want. Regarding career and economic aspirations, the importance of peer relationships appears to have dropped away. It may be that when youth consider their realistic economic alternatives, the role of peers that was important for identity development in adolescence gives way to pragmatism about the attainment of a career identity. Copyright © 2011 The Association for Professionals in Services for Adolescents. All rights reserved.

Genetics Home Reference: familial atrial fibrillation

Science.gov (United States)

... Twitter Home Health Conditions Familial atrial fibrillation Familial atrial fibrillation Printable PDF Open All Close All Enable Javascript to view the expand/collapse boxes. Description Familial atrial fibrillation is an inherited abnormality of the heart's normal ...

Spinocerebellar ataxias in Venezuela: genetic epidemiology and their most likely ethnic descent.

Science.gov (United States)

Paradisi, Irene; Ikonomu, Vassiliki; Arias, Sergio

2016-03-01

Dominantly inherited ataxias (spinocerebellar ataxias, SCAs) are a genetically heterogeneous group of neurologic diseases characterized by progressive cerebellar and spinal tract degeneration with ataxia and other signs, common to all known subtypes. Several types are relatively frequent worldwide, but in several countries, one specific SCA may show a higher prevalence owing to founder phenomena. In Venezuela, genetic epidemiological features of SCAs have been assessed during the last 30 years; mutations in ATXN1 (SCA1), ATXN2 (SCA2), ATXN3 (SCA3), CACNA1A (SCA6), ATXN7 (SCA7), ATXN8 (SCA8), ATXN10 (SCA10), TBP (SCA17) and ATN1 (dentatorubral pallidoluysian atrophy, DRPLA) loci were searched among 115 independent families. SCA7 was the most frequent subtype (26.6%), followed by SCA3 (25.0%), SCA2 (21.9%), SCA1 (17.2%), SCA10 (4.7%) and DRPLA (3.1%); in 43% of the families, the subtype remained unidentified. SCA7 mutations displayed strong geographic aggregation in two independent founder foci, and SCA1 showed a very remote founder effect for a subset of families. SCA10 families were scattered across the country, but all had an identical in-phase haplotype carried also by Mexican, Brazilian and Sioux patients, supporting a very old common Amerindian origin. Prevalence for dominant SCAs in Venezuela was estimated as 1:25 000 nuclear families, provenances of which are either Caucasoid, African or Amerindian.

Ties of silence--Family lived experience of selective mutism in identical twins.

Science.gov (United States)

Albrigtsen, Vårin; Eskeland, Benedicte; Mæhle, Magne

2016-04-01

This article is based on an in-depth interview with a pair of twins diagnosed with selective mutism and their parents 2 years after recovery. Selective mutism (SM) is a rare disorder, and identical twins sharing the condition are extremely rare. The twins developed SM simultaneously during their first year of school. The treatment and follow-up they received for several years are briefly described in this article. The interview explored the children's and their parents' narratives about the origin of the condition, the challenges it entailed in their daily lives, and what they found helpful in the treatment they were offered. In the interview, the children conveyed experiences that even the parents were unaware of and revealed examples of daily life-traumas for which they were unable to obtain support and help. The whole family was trapped in the silence. The twins and their parents emphasized different aspects in terms of what they believed were helpful. The implications of these findings for our understanding and treatment of children with SM are discussed, as well as the potential of service user involvement in child and adolescent mental health research. © The Author(s) 2015.

Family Caregiver Identity: A Literature Review

Science.gov (United States)

Eifert, Elise K.; Adams, Rebecca; Dudley, William; Perko, Michael

2015-01-01

Background: Despite the multitude of available resources, family caregivers of those with chronic disease continually underutilize support services to cope with the demands of caregiving. Several studies have linked self-identification as a caregiver to the increased likelihood of support service use. Purpose: The present study reviewed the…

Genetic diversity in Trichomonas vaginalis.

Science.gov (United States)

Meade, John C; Carlton, Jane M

2013-09-01

Recent advances in genetic characterisation of Trichomonas vaginalis isolates show that the extensive clinical variability in trichomoniasis and its disease sequelae are matched by significant genetic diversity in the organism itself, suggesting a connection between the genetic identity of isolates and their clinical manifestations. Indeed, a high degree of genetic heterogeneity in T vaginalis isolates has been observed using multiple genotyping techniques. A unique two-type population structure that is both local and global in distribution has been identified, and there is evidence of recombination within each group, although sexual recombination between the groups appears to be constrained. There is conflicting evidence in these studies for correlations between T vaginalis genetic identity and clinical presentation, metronidazole susceptibility, and the presence of T vaginalis virus, underscoring the need for adoption of a common standard for genotyping the parasite. Moving forward, microsatellite genotyping and multilocus sequence typing are the most robust techniques for future investigations of T vaginalis genotype-phenotype associations.

A genetic diagnosis of maturity-onset diabetes of the young (MODY): experiences of patients and family members

NARCIS (Netherlands)

Bosma, A.R.; Rigter, T.; Weinreich, S.S.; Cornel, M.C.; Henneman, L.

2015-01-01

Aims: Genetic testing for maturity-onset diabetes of the young (MODY) facilitates a correct diagnosis, enabling treatment optimization and allowing monitoring of asymptomatic family members. To date, the majority of people with MODY remain undiagnosed. To identify patients' needs and areas for

Genetic similarity of polyploids - A new version of the computer program POPDIST (ver. 1.2.0) considers intraspecific genetic differentiation

DEFF Research Database (Denmark)

Tomiuk, Jürgen; Guldbrandtsen, Bernt; Loeschcke, Volker

2009-01-01

For evolutionary studies of polyploid species estimates of the genetic identity between species with different degrees of ploidy are particularly required because gene counting in samples of polyploid individuals often cannot be done, e.g., in triploids the phenotype AB can be genotypically either...... ABB or AAB. We recently suggested a genetic distance measure that is based on phenotype counting and made available the computer program POPDIST. The program provides maximum-likelihood estimates of the genetic identities and distances between polyploid populations, but this approach...

APC promoter 1B deletion in seven American families with familial adenomatous polyposis.

Science.gov (United States)

Snow, A K; Tuohy, T M F; Sargent, N R; Smith, L J; Burt, R W; Neklason, D W

2015-10-01

Familial adenomatous polyposis (FAP) is a colorectal cancer predisposition syndrome caused by mutations in the adenomatous polyposis coli (APC) gene. Clinical genetic testing fails to identify disease causing mutations in up to 20% of clinically apparent FAP cases. Following the inclusion of multiplex ligation-dependent probe amplification (MLPA) probes specific for APC promoter 1B, seven probands were identified with a deletion of promoter 1B. Using haplotype analysis spanning the APC locus, the seven families appear to be identical by descent from a common founder. The clinical phenotype of 19 mutation carriers is classical FAP with colectomy at an average age of 24. The majority of cases had a large number of duodenal and gastric polyps. Measurements of allele-specific expression of APC mRNA using TaqMan assay confirmed that relative expression in the allele containing the promoter 1B deletion was reduced 42-98%, depending on tissue type. This study confirms the importance of APC promoter deletions as a cause of FAP and identifies a founder mutation in FAP patients from the United States. © 2014 John Wiley & Sons A/S. Published by John Wiley & Sons Ltd.

The Role of Aggressive Personality and Family Relationships in Explaining Family Conflict

OpenAIRE

Horwitz, Briana N.; Ganiban, Jody M.; Spotts, Erica L.; Lichtenstein, Paul; Reiss, David; Neiderhiser, Jenae M.

2011-01-01

This study investigated whether genetic and environmental influences on global family conflict are explained by parents’ personality, marital quality, and negative parenting. The sample comprised 876 same-sex pairs of twins, their spouse, and one adolescent child per twin from the Twin and Offspring Study in Sweden (TOSS). Genetic influences on aggressive personality were correlated with genetic influences on global family conflict. Nonshared environmental influences on marital quality and ne...

Combining information from linkage and association mapping for next-generation sequencing longitudinal family data.

Science.gov (United States)

Balliu, Brunilda; Uh, Hae-Won; Tsonaka, Roula; Boehringer, Stefan; Helmer, Quinta; Houwing-Duistermaat, Jeanine J

2014-01-01

In this analysis, we investigate the contributions that linkage-based methods, such as identical-by-descent mapping, can make to association mapping to identify rare variants in next-generation sequencing data. First, we identify regions in which cases share more segments identical-by-descent around a putative causal variant than do controls. Second, we use a two-stage mixed-effect model approach to summarize the single-nucleotide polymorphism data within each region and include them as covariates in the model for the phenotype. We assess the impact of linkage disequilibrium in determining identical-by-descent states between individuals by using markers with and without linkage disequilibrium for the first part and the impact of imputation in testing for association by using imputed genome-wide association studies or raw sequence markers for the second part. We apply the method to next-generation sequencing longitudinal family data from Genetic Association Workshop 18 and identify a significant region at chromosome 3: 40249244-41025167 (p-value = 2.3 × 10(-3)).

Familial clustering of epilepsy and behavioral disorders: Evidence for a shared genetic basis

Science.gov (United States)

Hesdorffer, Dale C.; Caplan, Rochelle; Berg, Anne T.

2011-01-01

Purpose To examine whether family history of unprovoked seizures is associated with behavioral disorders in epilepsy probands, thereby supporting the hypothesis of shared underlying genetic susceptibility to these disorders. Methods We conducted an analysis of the 308 probands with childhood onset epilepsy from the Connecticut Study of Epilepsy with information on first degree family history of unprovoked seizures and of febrile seizures whose parents completed the Child Behavior Checklist (CBCL) at the 9-year follow-up. Clinical cut-offs for CBCL problem and DSM-Oriented scales were examined. The association between first degree family history of unprovoked seizure and behavioral disorders was assessed separately in uncomplicated and complicated epilepsy and separately for first degree family history of febrile seizures. A subanalysis, accounting for the tendency for behavioral disorders to run in families, adjusted for siblings with the same disorder as the proband. Prevalence ratios were used to describe the associations. Key findings In probands with uncomplicated epilepsy, first degree family history of unprovoked seizure was significantly associated with clinical cut-offs for Total Problems and Internalizing Disorders. Among Internalizing Disorders, clinical cut-offs for Withdrawn/Depressed, and DSM-Oriented scales for Affective Disorder and Anxiety Disorder were significantly associated with family history of unprovoked seizures. Clinical cut-offs for Aggressive Behavior and Delinquent Behavior, and DSM-Oriented scales for Conduct Disorder and Oppositional Defiant Disorder were significantly associated with family history of unprovoked seizure. Adjustment for siblings with the same disorder revealed significant associations for the relationship between first degree family history of unprovoked seizure and Total Problems and Agressive Behavior in probands with uncomplicated epilepsy; marginally significant results were seen for Internalizing Disorder

High genetic diversity and different distributions of glycosyl hydrolase family 10 and 11 xylanases in the goat rumen.

Directory of Open Access Journals (Sweden)

Guozeng Wang

Full Text Available BACKGROUND: The rumen harbors a complex microbial ecosystem for efficient hydrolysis of plant polysaccharides which are the main constituent of the diet. Xylanase is crucial for hemicellulose hydrolysis and plays an important role in the plant cell wall degradation. Xylanases of ruminal strains were widely studied, but few studies have focused on their diversity in rumen microenvironment. METHODOLOGY/PRINCIPAL FINDINGS: We explored the genetic diversity of xylanases belonging to two major glycosyl hydrolase families (GH 10 and 11 in goat rumen contents by analyzing the amplicons generated with two degenerate primer sets. Fifty-two distinct GH 10 and 35 GH 11 xylanase gene fragments (similarity <95% were retrieved, and most had low identities with known sequences. Based on phylogenetic analysis, all GH 10 xylanase sequences fell into seven clusters, and 88.5% of them were related to xylanases from Bacteroidetes. Five clusters of GH 11 xylanase sequences were identified. Of these, 85.7% were related to xylanases from Firmicutes, and 14.3% were related to those of rumen fungi. Two full-length xylanase genes (one for each family were directly cloned and expressed in Escherichia coli. Both the recombinant enzymes showed substantial xylanase activity, and were purified and characterized. Combined with the results of sheep rumen, Bacteroidetes and Firmicutes are the two major phyla of xylan-degrading microorganisms in rumen, which is distinct from the representatives of other environments such as soil and termite hindgut, suggesting that xylan-degrading microorganisms are environment specific. CONCLUSION/SIGNIFICANCE: The numerous new xylanase genes suggested the functional diversity of xylanase in the rumen microenvironment which may have great potential applications in industry and agriculture. The phylogenetic diversity and different distributions of xylanase genes will help us understand their roles in plant cell wall degradation in the rumen

Genetic Analyses of a Three Generation Family Segregating Hirschsprung Disease and Iris Heterochromia.

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Long Cui

Full Text Available We present the genetic analyses conducted on a three-generation family (14 individuals with three members affected with isolated-Hirschsprung disease (HSCR and one with HSCR and heterochromia iridum (syndromic-HSCR, a phenotype reminiscent of Waardenburg-Shah syndrome (WS4. WS4 is characterized by pigmentary abnormalities of the skin, eyes and/or hair, sensorineural deafness and HSCR. None of the members had sensorineural deafness. The family was screened for copy number variations (CNVs using Illumina-HumanOmni2.5-Beadchip and for coding sequence mutations in WS4 genes (EDN3, EDNRB, or SOX10 and in the main HSCR gene (RET. Confocal microscopy and immunoblotting were used to assess the functional impact of the mutations. A heterozygous A/G transition in EDNRB was identified in 4 affected and 3 unaffected individuals. While in EDNRB isoforms 1 and 2 (cellular receptor the transition results in the abolishment of translation initiation (M1V, in isoform 3 (only in the cytosol the replacement occurs at Met91 (M91V and is predicted benign. Another heterozygous transition (c.-248G/A; -predicted to affect translation efficiency- in the 5'-untranslated region of EDN3 (EDNRB ligand was detected in all affected individuals but not in healthy carriers of the EDNRB mutation. Also, a de novo CNVs encompassing DACH1 was identified in the patient with heterochromia iridum and HSCR Since the EDNRB and EDN3 variants only coexist in affected individuals, HSCR could be due to the joint effect of mutations in genes of the same pathway. Iris heterochromia could be due to an independent genetic event and would account for the additional phenotype within the family.

The UDP-glucuronate decarboxylase gene family in Populus: structure, expression, and association genetics.

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Qingzhang Du

Full Text Available In woody crop plants, the oligosaccharide components of the cell wall are essential for important traits such as bioenergy content, growth, and structural wood properties. UDP-glucuronate decarboxylase (UXS is a key enzyme in the synthesis of UDP-xylose for the formation of xylans during cell wall biosynthesis. Here, we isolated a multigene family of seven members (PtUXS1-7 encoding UXS from Populus tomentosa, the first investigation of UXSs in a tree species. Analysis of gene structure and phylogeny showed that the PtUXS family could be divided into three groups (PtUXS1/4, PtUXS2/5, and PtUXS3/6/7, consistent with the tissue-specific expression patterns of each PtUXS. We further evaluated the functional consequences of nucleotide polymorphisms in PtUXS1. In total, 243 single-nucleotide polymorphisms (SNPs were identified, with a high frequency of SNPs (1/18 bp and nucleotide diversity (πT = 0.01033, θw = 0.01280. Linkage disequilibrium (LD analysis showed that LD did not extend over the entire gene (r (2<0.1, P<0.001, within 700 bp. SNP- and haplotype-based association analysis showed that nine SNPs (Q <0.10 and 12 haplotypes (P<0.05 were significantly associated with growth and wood property traits in the association population (426 individuals, with 2.70% to 12.37% of the phenotypic variation explained. Four significant single-marker associations (Q <0.10 were validated in a linkage mapping population of 1200 individuals. Also, RNA transcript accumulation varies among genotypic classes of SNP10 was further confirmed in the association population. This is the first comprehensive study of the UXS gene family in woody plants, and lays the foundation for genetic improvements of wood properties and growth in trees using genetic engineering or marker-assisted breeding.

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

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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.

Lipid phenotype and heritage pattern in families with genetic hypercholesterolemia not related to LDLR, APOB, PCSK9, or APOE.

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Jarauta, Estíbaliz; Pérez-Ruiz, María Rosario; Pérez-Calahorra, Sofia; Mateo-Gallego, Rocio; Cenarro, Ana; Cofán, Montserrat; Ros, Emilio; Civeira, Fernando; Tejedor, Maria Teresa

A substantial proportion of individuals clinically diagnosed as familial hypercholesterolemia (FH) do not carry pathogenic mutations in candidate genes. Whether in them the high cholesterol trait is transmitted monogenically has not been studied. We assessed the inheritance pattern, penetrance, and expression of high low-density lipoprotein (LDL)-cholesterol (LDLc) in families with genetic hypercholesterolemia (GH) without known causative mutations (non-FH-GH). The study included probands with a clinical diagnosis of FH and their families attending 2 lipid clinics in Spain. Inclusion criteria for probands were LDLc >95th percentile, triglycerides 90th percentile, >5 points in the Dutch Lipid Clinic Network criteria score, and absence of mutations in LDLR, APOB, PCSK9 or APOE. Eleven FH families with a LDLR mutation were also examined for comparison. We analyzed 49 non-FH-GH probands and 277 first-and second-degree relatives. LDLc was >90th percentile in 37.8% of blood relatives, at concentrations similar to those of probands. LDLc had a normal distribution in non-FH-GH families, in contrast with a bimodal distribution in FH families. When a dominant model was tested, family-based association tests gave much lower heritability values for total cholesterol and LDLc in non-FH-GH (0.39 and 0.32, respectively) than in FH (0.78 and 0.61, respectively). Non-FH-GH families have a milder lipid phenotype than genetically defined FH. The heritage pattern of LDLc in non-FH-GH does not fit with a monogenic disorder. Our findings support the concept that most non-FH-GHs are polygenic hypercholesterolemias. Copyright © 2016 National Lipid Association. Published by Elsevier Inc. All rights reserved.

Subtypes of familial hemophagocytic lymphohistiocytosis in Japan based on genetic and functional analyses of cytotoxic T lymphocytes.

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Kozo Nagai

Full Text Available BACKGROUND: Familial hemophagocytic lymphohistiocytosis (FHL is a rare disease of infancy or early childhood. To clarify the incidence and subtypes of FHL in Japan, we performed genetic and functional analyses of cytotoxic T lymphocytes (CTLs in Japanese patients with FHL. DESIGN AND METHODS: Among the Japanese children with hemophagocytic lymphohistiocytosis (HLH registered at our laboratory, those with more than one of the following findings were eligible for study entry under a diagnosis of FHL: positive for known genetic mutations, a family history of HLH, and impaired CTL-mediated cytotoxicity. Mutations of the newly identified causative gene for FHL5, STXBP2, and the cytotoxicity and degranulation activity of CTLs in FHL patients, were analyzed. RESULTS: Among 31 FHL patients who satisfied the above criteria, PRF1 mutation was detected in 17 (FHL2 and UNC13D mutation was in 10 (FHL3. In 2 other patients, 3 novel mutations of STXBP2 gene were confirmed (FHL5. Finally, the remaining 2 were classified as having FHL with unknown genetic mutations. In all FHL patients, CTL-mediated cytotoxicity was low or deficient, and degranulation activity was also low or absent except FHL2 patients. In 2 patients with unknown genetic mutations, the cytotoxicity and degranulation activity of CTLs appeared to be deficient in one patient and moderately impaired in the other. CONCLUSIONS: FHL can be diagnosed and classified on the basis of CTL-mediated cytotoxicity, degranulation activity, and genetic analysis. Based on the data obtained from functional analysis of CTLs, other unknown gene(s responsible for FHL remain to be identified.

Characterization of macular structure and function in two Swedish families with genetically identified autosomal dominant retinitis pigmentosa

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Abdulridha-Aboud, Wissam; Kjellström, Ulrika; Andréasson, Sten

2016-01-01

Purpose To study the phenotype in two families with genetically identified autosomal dominant retinitis pigmentosa (adRP) focusing on macular structure and function. Methods Clinical data were collected at the Department of Ophthalmology, Lund University, Sweden, for affected and unaffected family members from two pedigrees with adRP. Examinations included optical coherence tomography (OCT), full-field electroretinography (ffERG), and multifocal electroretinography (mfERG). Molecular genetic screening was performed for known mutations associated with adRP. Results The mode of inheritance was autosomal dominant in both families. The members of the family with a mutation in the PRPF31 (p.IVS6+1G>T) gene had clinical features characteristic of RP, with severely reduced retinal rod and cone function. The degree of deterioration correlated well with increasing age. The mfERG showed only centrally preserved macular function that correlated well with retinal thinning on OCT. The family with a mutation in the RHO (p.R135W) gene had an extreme intrafamilial variability of the phenotype, with more severe disease in the younger generations. OCT showed pathology, but the degree of morphological changes was not correlated with age or with the mfERG results. The mother, with a de novo mutation in the RHO (p.R135W) gene, had a normal ffERG, and her retinal degeneration was detected merely with the reduced mfERG. Conclusions These two families demonstrate the extreme inter- and intrafamilial variability in the clinical phenotype of adRP. This is the first Swedish report of the clinical phenotype associated with a mutation in the PRPF31 (p.IVS6+1G>T) gene. Our results indicate that methods for assessment of the central retinal structure and function may improve the detection and characterization of the RP phenotype. PMID:27212874

Genetic privacy.

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Sankar, Pamela

2003-01-01

During the past 10 years, the number of genetic tests performed more than tripled, and public concern about genetic privacy emerged. The majority of states and the U.S. government have passed regulations protecting genetic information. However, research has shown that concerns about genetic privacy are disproportionate to known instances of information misuse. Beliefs in genetic determinacy explain some of the heightened concern about genetic privacy. Discussion of the debate over genetic testing within families illustrates the most recent response to genetic privacy concerns.

The minisequencing method: a simple strategy for genetic screening of MEN 2 families

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Domingues Rita

2002-05-01

Full Text Available Abstract Background Multiple endocrine neoplasia type 2 is an autosomal dominant disorder. MEN 2A is characterized by medullary thyroid carcinoma, pheochromocytoma and hyperparathyroidism; MEN 2B by medullary thyroid carcinoma, pheochromocytoma and characteristic stigmata. Activating germline mutations of the RET proto oncogene are responsible for this hereditary syndrome. Codon 634 mutations are the most common mutations occurring in MEN 2A families whereas a specific mutation at codon 918 is observed in the great majority of MEN 2B families. Analysis of these codons will provide a final diagnosis in the great majority of affected families making unnecessary further studies. To specifically study the codons 634 and 918 we used a minisequencing method as an alternative method to complete sequencing. Results Using this mutation detection method we were able to reproduce in all cases, representative of 7 families, the information previously obtained by direct sequencing of PCR products. Depending on the number of primers used in the minisequencing reaction, we were able to interrogate either only one nucleotide of the target codon or the three nucleotides simultaneously. Conclusions This technique appears as a simple, rapid and efficient method for genetic screening of MEN 2 families. It can be utilized to seek for unknown mutations at specific codons or to screen for previously identified mutations and is therefore of interest to study index cases or individuals at risk. Results suggest that complete sequencing is unnecessary.

Birds of an Ethnic Feather? Ethnic Identity Homophily among College-Age Friends

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Syed, Moin; Juan, Mary Joyce D.

2012-01-01

This study assessed the degree to which pairs of friends report similar levels of ethnic identity. College-age friends (n=107 pairs; N=214 overall) completed measures of ethnic identity exploration and commitment, identity synthesis, relationship closeness, and frequency of talking to friends and family about ethnicity-related issues. Participants…

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

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Zhou Xiangtian; Wei Qiping; Yang Li; Tong Yi; Zhao Fuxin; Lu Chunjie; Qian Yaping; Sun Yanghong; Lu Fan; Qu Jia; Guan Minxin

2006-01-01

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

Situational variations in ethnic identity across immigration generations: Implications for acculturative change and cross-cultural adaptation.

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Noels, Kimberly A; Clément, Richard

2015-12-01

This study examined whether the acculturation of ethnic identity is first evident in more public situations with greater opportunity for intercultural interaction and eventually penetrates more intimate situations. It also investigated whether situational variations in identity are associated with cross-cultural adaptation. First-generation (G1), second-generation (G2) and mixed-parentage second-generation (G2.5) young adult Canadians (n = 137, n = 169, and n = 91, respectively) completed a questionnaire assessing their heritage and Canadian identities across four situational domains (family, friends, university and community), global heritage identity and cross-cultural adaptation. Consistent with the acculturation penetration hypothesis, the results showed Canadian identity was stronger than heritage identity in public domains, but the converse was true in the family domain; moreover, the difference between the identities in the family domain was attenuated in later generations. Situational variability indicated better adaptation for the G1 cohort, but poorer adaptation for the G2.5 cohort. For the G2 cohort, facets of global identity moderated the relation, such that those with a weaker global identity experienced greater difficulties and hassles with greater identity variability but those with a stronger identity did not. These results are interpreted in light of potential interpersonal issues implied by situational variation for each generation cohort. © 2015 International Union of Psychological Science.

Genetic anticipation in Swedish Lynch syndrome families

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von Salomé, Jenny; Boonstra, Philip S; Karimi, Masoud

2017-01-01

Among hereditary colorectal cancer predisposing syndromes, Lynch syndrome (LS) caused by mutations in DNA mismatch repair genes MLH1, MSH2, MSH6 or PMS2 is the most common. Patients with LS have an increased risk of early onset colon and endometrial cancer, but also other tumors that generally have......-2013. We analyzed a homogenous group of mutation carriers, utilizing information from both affected and non-affected family members. In total, 239 families with a mismatch repair gene mutation (96 MLH1 families, 90 MSH2 families including one family with an EPCAM-MSH2 deletion, 39 MSH6 families, 12 PMS2...... families, and 2 MLH1+PMS2 families) comprising 1028 at-risk carriers were identified among the Swedish LS families, of which 1003 mutation carriers had available follow-up information and could be included in the study. Using a normal random effects model (NREM) we estimate a 2.1 year decrease in age...

Family environment and child development

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Tina Kavčič

2005-04-01

Full Text Available The paper presents an overview of research findings on influence of family environment, especially parental behaviour, on child's development. Contemporary authors question early socialization researchers' claims that family characteristics and parental behaviour have important influence on behaviour of their children. Later researchers examined the size and durability of possible effects of family environment on child development. In addition, they focused on establishing whether it is actually the parental behaviour that influences child's development or, on the contrary, parental behaviour represents mainly a reaction to child's characteristics. Behaviour genetic studies have provided evidence that many traditional measures of family environment, including measures of parental behaviour, show genetic influence, thus reflecting genetically influenced child characteristics. Behaviour geneticists also suggest that environmental influences on child (personality development include predominantly non-shared environment, i.e. individual child's specific experiences, his/her own perceptions and interpretations of objectively same events. Based on empirically determined significant genetic effects on most behavioural traits and inconclusive results of studies on effects of family environment on child development some authors believe that it is not the parents, but rather genetic factor and/or peers who have the key role in child development. With respect to findings of behaviour genetics numerous recent studies of relations between family environment and child development involve child specific measures of (extrafamilial environment and examine the interactions between characteristics of an individual and those of his/her environment.

Genetic spectrum of autosomal recessive non-syndromic hearing loss in Pakistani families.

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Sobia Shafique

Full Text Available The frequency of inherited bilateral autosomal recessive non-syndromic hearing loss (ARNSHL in Pakistan is 1.6/1000 individuals. More than 50% of the families carry mutations in GJB2 while mutations in MYO15A account for about 5% of recessive deafness. In the present study a cohort of 30 ARNSHL families was initially screened for mutations in GJB2 and MYO15A. Homozygosity mapping was performed by employing whole genome single nucleotide polymorphism (SNP genotyping in the families that did not carry mutations in GJB2 or MYO15A. Mutation analysis was performed for the known ARNSHL genes present in the homozygous regions to determine the causative mutations. This allowed the identification of a causative mutation in all the 30 families including 9 novel mutations, which were identified in 9 different families (GJB2 (c.598G>A, p.Gly200Arg; MYO15A (c.9948G>A, p.Gln3316Gln; c.3866+1G>A; c.8767C>T, p.Arg2923* and c.8222T>C, p.Phe2741Ser, TMC1 (c.362+18A>G, BSND (c.97G>C, p.Val33Leu, TMPRSS3 (c.726C>G, p.Cys242Trp and MSRB3 (c.20T>G, p.Leu7Arg. Furthermore, 12 recurrent mutations were detected in 21 other families. The 21 identified mutations included 10 (48% missense changes, 4 (19% nonsense mutations, 3 (14% intronic mutations, 2 (9% splice site mutations and 2 (9% frameshift mutations. GJB2 accounted for 53% of the families, while mutations in MYO15A were the second most frequent (13% cause of ARNSHL in these 30 families. The identification of novel as well as recurrent mutations in the present study increases the spectrum of mutations in known deafness genes which could lead to the identification of novel founder mutations and population specific mutated deafness genes causative of ARNSHL. These results provide detailed genetic information that has potential diagnostic implication in the establishment of cost-efficient allele-specific analysis of frequently occurring variants in combination with other reported mutations in Pakistani populations.

Why do women not return family history forms when referred to breast cancer genetics services? A mixed-method study.

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Hanning, Kirstie A; Steel, Michael; Goudie, David; McLeish, Lorna; Dunlop, Jackie; Myring, Jessica; Sullivan, Frank; Berg, Jonathan; Humphris, Gerry; Ozakinci, Gozde

2015-10-01

Personal and family data forms, completed by women referred to breast cancer genetics clinics, are valuable tools for verification and extension of family history, crucial steps in accurate risk evaluation. A significant minority of women do not complete and return these forms, despite reminders, even when completion is a pre-requisite for a clinic appointment. To facilitate access of women at increased familial risk of breast cancer to screening and counselling services by investigating reasons for non-return of the forms. Based on a single regional 'breast cancer family' service in the UK, Analysis of quantitative data comparing women who did not return forms (n = 55) with those who had done so (n = 59), together with qualitative evaluation of potential barriers to form-completion through semi-structured telephone interviews with a random subset of 'non-returners' (n = 23). Non-returners have higher proportions of the very young (below the age at which surveillance could be offered) and of women from lower social deprivation categories. Interviews revealed that the majority of non-returners are anxious, rather than unconcerned about their breast cancer risk and circumstances and attitudes contributed to non-compliance. Twenty-one participants confirmed that they would welcome an appointment at a 'breast cancer family' clinic, but nine did not attend for the appointment. They were significantly younger than those who attend, but were not at lower familial risk. Many women who fail to complete and return a family history form would benefit from risk assessment and genetic counselling. Several steps are suggested that might help them access the relevant services. © 2014 John Wiley & Sons Ltd.

Genetic insights into family group co-occurrence in Cryptocercus punctulatus, a sub-social woodroach from the southern Appalachian Mountains

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Ryan C. Garrick

2017-03-01

Full Text Available The wood-feeding cockroach Cryptocercus punctulatus Scudder (Blattodea: Cryptocercidae is an important member of the dead wood (saproxylic community in montane forests of the southeastern United States. However, its population biology remains poorly understood. Here, aspects of family group co-occurrence were characterized to provide basic information that can be extended by studies on the evolution and maintenance of sub-sociality. Broad sampling across the species’ range was coupled with molecular data (mitochondrial DNA (mtDNA sequences. The primary questions were: (1 what proportion of rotting logs contain two or more different mtDNA haplotypes and how often can this be attributed to multiple families inhabiting the same log, (2 are multi-family logs spatially clustered, and (3 what levels of genetic differentiation among haplotypes exist within a log, and how genetically similar are matrilines of co-occurring family groups? Multi-family logs were identified on the premise that three different mtDNA haplotypes, or two different haplotypes among adult females, is inconsistent with a single family group founded by one male–female pair. Results showed that of the 88 rotting logs from which multiple adult C. punctulatus were sampled, 41 logs (47% contained two or more mtDNA haplotypes, and at least 19 of these logs (22% overall were inferred to be inhabited by multiple families. There was no strong evidence for spatial clustering of the latter class of logs. The frequency distribution of nucleotide differences between co-occurring haplotypes was strongly right-skewed, such that most haplotypes were only one or two mutations apart, but more substantial divergences (up to 18 mutations, or 1.6% uncorrected sequence divergence do occasionally occur within logs. This work represents the first explicit investigation of family group co-occurrence in C. punctulatus, providing a valuable baseline for follow-up studies.

The Human Salivary Microbiome Is Shaped by Shared Environment Rather than Genetics: Evidence from a Large Family of Closely Related Individuals.

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Shaw, Liam; Ribeiro, Andre L R; Levine, Adam P; Pontikos, Nikolas; Balloux, Francois; Segal, Anthony W; Roberts, Adam P; Smith, Andrew M

2017-09-12

The human microbiome is affected by multiple factors, including the environment and host genetics. In this study, we analyzed the salivary microbiomes of an extended family of Ashkenazi Jewish individuals living in several cities and investigated associations with both shared household and host genetic similarities. We found that environmental effects dominated over genetic effects. While there was weak evidence of geographical structuring at the level of cities, we observed a large and significant effect of shared household on microbiome composition, supporting the role of the immediate shared environment in dictating the presence or absence of taxa. This effect was also seen when including adults who had grown up in the same household but moved out prior to the time of sampling, suggesting that the establishment of the salivary microbiome earlier in life may affect its long-term composition. We found weak associations between host genetic relatedness and microbiome dissimilarity when using family pedigrees as proxies for genetic similarity. However, this association disappeared when using more-accurate measures of kinship based on genome-wide genetic markers, indicating that the environment rather than host genetics is the dominant factor affecting the composition of the salivary microbiome in closely related individuals. Our results support the concept that there is a consistent core microbiome conserved across global scales but that small-scale effects due to a shared living environment significantly affect microbial community composition. IMPORTANCE Previous research shows that the salivary microbiomes of relatives are more similar than those of nonrelatives, but it remains difficult to distinguish the effects of relatedness and shared household environment. Furthermore, pedigree measures may not accurately measure host genetic similarity. In this study, we include genetic relatedness based on genome-wide single nucleotide polymorphisms (SNPs) (rather than

LGMD2D syndrome: the importance of clinical and molecular genetics in patient and family management. Case Report.

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Al-Harbi, Khalid M; Abdallah, Atiyeh M

2016-09-01

We report the case of a seven-year-old female from a consanguineous Saudi family with autosomal recessive limb girdle muscular dystrophy type 2D (LGMD2D) most likely caused by a rare SGCA mutation. Histopathological and molecular investigations resulted in the discovery of a homozygous mutation (c.226 C>T (p.L76 F)) in exon 3 of SGCA in the patient. The parents and one sibling were heterozygous carriers, but the mutation was not otherwise detected in 80 ethnic controls from the same geographic area. In silico analysis revealed that the mutation resulted in a functional leucine to phenylalanine alteration that was deleterious to the protein structure. This is only the second reported case of the p.L76F mutation in LGMD, and highlights that molecular genetics analysis is essential to deliver the most appropriate management to the patient and offer the family genetic counseling.

Perceived Discrimination and Social Identity as Adolescents ...

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Perceived Discrimination and Social Identity as Adolescents' Pathways to ... Also, a comparison of gender on drug use reveals males using more drugs than ... and governmental organizations starting from families should work together in the ...

Parent-child genetic testing for familial hypercholesterolaemia in an Australian context.

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Pang, Jing; Martin, Andrew C; Bates, Timothy R; Hooper, Amanda J; Bell, Damon A; Burnett, John R; Norman, Richard; Watts, Gerald F

2018-04-06

The aim of this study was to evaluate the clinical outcome of parent-child testing for familial hypercholesterolaemia (FH) employing genetic testing and the likely additional cost of treating each child. Parent-child testing for gene variants causative of FH was carried out according to Australian guidelines. The number of new cases detected, the low-density lipoprotein (LDL)-cholesterol that best predicted a mutation and the proportional reduction in LDL-cholesterol following statin treatment was evaluated. Treatment costs were calculated as the cost per mmol/L reduction in LDL-cholesterol. A total of 126 adult patients, known to have a pathogenic mutation causative of FH, and their children were studied. From 244 children identified, 148 (60.7%) were genetically screened; 84 children were identified as mutative positive (M+) and 64 as mutative negative. Six of the M+ children were already on statin treatment; 40 were subsequently treated with low-dose statins, with LDL-cholesterol falling significantly by 38% (P < 0.001). The estimated cost per mmol/L reduction of LDL-cholesterol of a child receiving statins from ages 10 to 18 years is AU$1361, which can potentially be cost-effective. An LDL-cholesterol threshold of 3.5 mmol/L had a sensitivity of 92.8% and specificity of 96.6% for the detection of a mutation. Genetic testing of children of affected parents with FH is an effective means of detecting new cases of FH. Cascade testing can enable early statin therapy with significant reductions in LDL-cholesterol concentration. © 2018 Paediatrics and Child Health Division (The Royal Australasian College of Physicians).

Variable pathogenicity of exon 43del (FAA) in four Fanconi anaemia patients within a consanguineous family.

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Koc, A; Pronk, J C; Alikasifoglu, M; Joenje, H; Altay, C

1999-01-01

Four Fanconi anaemia group A (FAA) patients within two related consanguineous families are presented: the propositus (male, 13 years, transplanted at age 10), and his three cousins (one male, 8 years, and two female newborns). Assignment of the patients to FAA was based on the functional complementation analysis by somatic cell hybridization and confirmed by mutation screening showing a homozygous deletion of exon 43 (4267-4404del) in the FAA gene to be present in all four patients. The newborn patients had been diagnosed prenatally by DNA analysis. In spite of identical molecular pathology and close familial relationship the clinical phenotypes of the four patients were not concordant. Discordant symptoms included birthweight, pigmentation abnormalities, skeletal, renal and genital abnormalities, whereas microcephaly and possibly the haematological course were concordant. Differences in environmental conditions and/or genetic make-up along with chance effects during development may explain discordant phenotypes despite identical molecular pathology in these patients. However, our results do not rule out the possibility that the exon 43del mutation may have prognostic value for the haematological course of the disease.

Critical Need for Family-Based, Quasi-Experimental Designs in Integrating Genetic and Social Science Research

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Lahey, Benjamin B.; Turkheimer, Eric; Lichtenstein, Paul

2013-01-01

Researchers have identified environmental risks that predict subsequent psychological and medical problems. Based on these correlational findings, researchers have developed and tested complex developmental models and have examined biological moderating factors (e.g., gene–environment interactions). In this context, we stress the critical need for researchers to use family-based, quasi-experimental designs when trying to integrate genetic and social science research involving environmental variables because these designs rigorously examine causal inferences by testing competing hypotheses. We argue that sibling comparison, offspring of twins or siblings, in vitro fertilization designs, and other genetically informed approaches play a unique role in bridging gaps between basic biological and social science research. We use studies on maternal smoking during pregnancy to exemplify these principles. PMID:23927516

Fingerprint recognition with identical twin fingerprints.

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Tao, Xunqiang; Chen, Xinjian; Yang, Xin; Tian, Jie

2012-01-01

Fingerprint recognition with identical twins is a challenging task due to the closest genetics-based relationship existing in the identical twins. Several pioneers have analyzed the similarity between twins' fingerprints. In this work we continue to investigate the topic of the similarity of identical twin fingerprints. Our study was tested based on a large identical twin fingerprint database that contains 83 twin pairs, 4 fingers per individual and six impressions per finger: 3984 (83*2*4*6) images. Compared to the previous work, our contributions are summarized as follows: (1) Two state-of-the-art fingerprint identification methods: P071 and VeriFinger 6.1 were used, rather than one fingerprint identification method in previous studies. (2) Six impressions per finger were captured, rather than just one impression, which makes the genuine distribution of matching scores more realistic. (3) A larger sample (83 pairs) was collected. (4) A novel statistical analysis, which aims at showing the probability distribution of the fingerprint types for the corresponding fingers of identical twins which have same fingerprint type, has been conducted. (5) A novel analysis, which aims at showing which finger from identical twins has higher probability of having same fingerprint type, has been conducted. Our results showed that: (a) A state-of-the-art automatic fingerprint verification system can distinguish identical twins without drastic degradation in performance. (b) The chance that the fingerprints have the same type from identical twins is 0.7440, comparing to 0.3215 from non-identical twins. (c) For the corresponding fingers of identical twins which have same fingerprint type, the probability distribution of five major fingerprint types is similar to the probability distribution for all the fingers' fingerprint type. (d) For each of four fingers of identical twins, the probability of having same fingerprint type is similar.

Fingerprint recognition with identical twin fingerprints.

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Xunqiang Tao

Full Text Available Fingerprint recognition with identical twins is a challenging task due to the closest genetics-based relationship existing in the identical twins. Several pioneers have analyzed the similarity between twins' fingerprints. In this work we continue to investigate the topic of the similarity of identical twin fingerprints. Our study was tested based on a large identical twin fingerprint database that contains 83 twin pairs, 4 fingers per individual and six impressions per finger: 3984 (83*2*4*6 images. Compared to the previous work, our contributions are summarized as follows: (1 Two state-of-the-art fingerprint identification methods: P071 and VeriFinger 6.1 were used, rather than one fingerprint identification method in previous studies. (2 Six impressions per finger were captured, rather than just one impression, which makes the genuine distribution of matching scores more realistic. (3 A larger sample (83 pairs was collected. (4 A novel statistical analysis, which aims at showing the probability distribution of the fingerprint types for the corresponding fingers of identical twins which have same fingerprint type, has been conducted. (5 A novel analysis, which aims at showing which finger from identical twins has higher probability of having same fingerprint type, has been conducted. Our results showed that: (a A state-of-the-art automatic fingerprint verification system can distinguish identical twins without drastic degradation in performance. (b The chance that the fingerprints have the same type from identical twins is 0.7440, comparing to 0.3215 from non-identical twins. (c For the corresponding fingers of identical twins which have same fingerprint type, the probability distribution of five major fingerprint types is similar to the probability distribution for all the fingers' fingerprint type. (d For each of four fingers of identical twins, the probability of having same fingerprint type is similar.

Dynamic Changes in Yeast Phosphatase Families Allow for Specialization in Phosphate and Thiamine Starvation.

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Nahas, John V; Iosue, Christine L; Shaik, Noor F; Selhorst, Kathleen; He, Bin Z; Wykoff, Dennis D

2018-05-10

Convergent evolution is often due to selective pressures generating a similar phenotype. We observe relatively recent duplications in a spectrum of Saccharomycetaceae yeast species resulting in multiple phosphatases that are regulated by different nutrient conditions - thiamine and phosphate starvation. This specialization is both transcriptional and at the level of phosphatase substrate specificity. In Candida glabrata , loss of the ancestral phosphatase family was compensated by the co-option of a different histidine phosphatase family with three paralogs. Using RNA-seq and functional assays, we identify one of these paralogs, CgPMU3 , as a thiamine phosphatase. We further determine that the 81% identical paralog CgPMU2 does not encode thiamine phosphatase activity; however, both are capable of cleaving the phosphatase substrate, 1-napthyl-phosphate. We functionally demonstrate that members of this family evolved novel enzymatic functions for phosphate and thiamine starvation, and are regulated transcriptionally by either nutrient condition, and observe similar trends in other yeast species. This independent, parallel evolution involving two different families of histidine phosphatases suggests that there were likely similar selective pressures on multiple yeast species to recycle thiamine and phosphate. In this work, we focused on duplication and specialization, but there is also repeated loss of phosphatases, indicating that the expansion and contraction of the phosphatase family is dynamic in many Ascomycetes. The dynamic evolution of the phosphatase gene families is perhaps just one example of how gene duplication, co-option, and transcriptional and functional specialization together allow species to adapt to their environment with existing genetic resources. Copyright © 2018, G3: Genes, Genomes, Genetics.

The genetic and environmental foundations of political, psychological, social, and economic behaviors: a panel study of twins and families.

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Hatemi, Peter K; Smith, Kevin; Alford, John R; Martin, Nicholas G; Hibbing, John R

2015-06-01

Here we introduce the Genetic and Environmental Foundations of Political and Economic Behaviors: A Panel Study of Twins and Families (PIs Alford, Hatemi, Hibbing, Martin, and Smith). This study was designed to explore the genetic and environmental influences on social, economic, and political behaviors and attitudes. It involves identifying the psychological mechanisms that operate on these traits, the heritability of complex economic and political traits under varying conditions, and specific genetic correlates of attitudes and behaviors. In addition to describing the study, we conduct novel analyses on the data, estimating the heritability of two traits so far unexplored in the extant literature: Machiavellianism and Baron-Cohen's Empathizing Quotient.

Understanding the transgenerational orientation of family businesses: the role of family governance and business family identity

OpenAIRE

Süss-Reyes, Julia

2017-01-01

The development of a transgenerational orientation is one of the most significant challenges that family businesses face and only a small number actually survive across generations. While prior research has focused on the business unit to provide us with a solid understanding of how corporate governance affects business performance and continuity, the role of the business family in the development of a transgenerational orientation has received less attention. To address this g...

Aquaporins in the wild: natural genetic diversity and selective pressure in the PIP gene family in five Neotropical tree species

Directory of Open Access Journals (Sweden)

Vendramin Giovanni G

2010-06-01

Full Text Available Abstract Background Tropical trees undergo severe stress through seasonal drought and flooding, and the ability of these species to respond may be a major factor in their survival in tropical ecosystems, particularly in relation to global climate change. Aquaporins are involved in the regulation of water flow and have been shown to be involved in drought response; they may therefore play a major adaptive role in these species. We describe genetic diversity in the PIP sub-family of the widespread gene family of Aquaporins in five Neotropical tree species covering four botanical families. Results PIP Aquaporin subfamily genes were isolated, and their DNA sequence polymorphisms characterised in natural populations. Sequence data were analysed with statistical tests of standard neutral equilibrium and demographic scenarios simulated to compare with the observed results. Chloroplast SSRs were also used to test demographic transitions. Most gene fragments are highly polymorphic and display signatures of balancing selection or bottlenecks; chloroplast SSR markers have significant statistics that do not conform to expectations for population bottlenecks. Although not incompatible with a purely demographic scenario, the combination of all tests tends to favour a selective interpretation of extant gene diversity. Conclusions Tropical tree PIP genes may generally undergo balancing selection, which may maintain high levels of genetic diversity at these loci. Genetic variation at PIP genes may represent a response to variable environmental conditions.

"Not a Real Family": Microaggressions Directed toward LGBTQ Families.

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Haines, Kari M; Boyer, C Reyn; Giovanazzi, Casey; Galupo, M Paz

2018-01-01

The present study investigates microaggressions toward individuals in lesbian, gay, bisexual, transgender, and queer (LGBTQ) families. Microaggressions are subtle forms of discrimination experienced on a daily basis as verbal or behavioral slights against individuals in oppressed groups. LGBTQ microaggressions are often studied at an individual level and understood as being directed toward an individual based on perceived identity. The present study allows for an understanding of bias directed at the family system level. Participants included 46 adults who identified as being part of an LGBTQ family. Participants completed an online questionnaire and described their experiences of LGBTQ family microaggressions. Thematic analysis revealed that LGBTQ family microaggressions were salient to individuals across multiple family roles. Three specific themes emerged: family legitimacy, conflicts with family values, and gender violation within family. These findings highlight the way LGBTQ microaggressions are influenced by cultural notions of family and impact the family system.

A new definition of Genetic Counseling: National Society of Genetic Counselors' Task Force report.

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Resta, Robert; Biesecker, Barbara Bowles; Bennett, Robin L; Blum, Sandra; Hahn, Susan Estabrooks; Strecker, Michelle N; Williams, Janet L

2006-04-01

The Genetic Counseling Definition Task Force of the National Society of Genetic Counselors (NSGC) developed the following definition of genetic counseling that was approved by the NSGC Board of Directors: Genetic counseling is the process of helping people understand and adapt to the medical, psychological and familial implications of genetic contributions to disease. This process integrates the following: Interpretation of family and medical histories to assess the chance of disease occurrence or recurrence. Education about inheritance, testing, management, prevention, resources and research. Counseling to promote informed choices and adaptation to the risk or condition. The definition was approved after a peer review process with input from the NSGC membership, genetic professional organizations, the NSGC legal counsel, and leaders of several national genetic advocacy groups.

Attitudes toward genetic testing in childhood and reproductive decision-making for familial adenomatous polyposis.

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Douma, Kirsten F L; Aaronson, Neil K; Vasen, Hans F A; Verhoef, Senno; Gundy, Chad M; Bleiker, Eveline M A

2010-02-01

Childhood DNA testing, prenatal diagnosis (PND) and preimplantation genetic diagnosis (PGD) are available for familial adenomatous polyposis (FAP). However, the use of PND and PGD is controversial. The purpose of this study was to investigate attitudes toward, and experiences with, childhood DNA testing, PND and PGD among members of families at high risk for FAP. In this nationwide, cross-sectional study, questionnaires were sent to individuals from families at high risk for FAP assessing attitudes toward and experiences with childhood testing, PND and PGD, as well as several sociodemographic, clinical and psychosocial variables. Of the individuals from FAP families invited to participate in the study, 525 members participated (response rate=64%). Most parents who had children who were minors (n=93) (82%) were satisfied with the DNA testing procedure. One-third of all individuals wanted DNA testing for their children before age 12. Forty percent of FAP patients indicated that the disease influenced their desire to have children. Only 15% considered termination of pregnancy for FAP acceptable. Approximately 30% of individuals with a FAP diagnosis and their partners considered PND and PGD as acceptable for themselves. A positive attitude was associated with higher levels of guilt and a positive attitude toward termination of pregnancy. Importantly, of those with FAP at childbearing age, 84% had had no previous information at all about either PND or PGD. Future efforts should be aimed at educating FAP family members about reproductive options, allowing them to make an informed choice about family planning. Routine discussion of all reproductive options with a medical specialist should be encouraged.

Examining the Role of Physical Appearance in Latino Adolescents' Ethnic Identity

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Gonzales-Backen, Melinda A.; Umana-Taylor, Adriana J.

2011-01-01

Guided by ecological theory, the current study examined physical appearance as a moderator of the relation between familial ethnic socialization (FES) and ethnic identity among 167 Latino adolescents. Results indicated that FES was positively associated with ethnic identity exploration and resolution. Furthermore, as expected, physical appearance…

Lumbar spondylolysis: A report of four cases from two generations of a family.

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Yurube, Takashi; Kakutani, Kenichiro; Okamoto, Koji; Manabe, Michihiko; Maeno, Koichiro; Yoshikawa, Masaho; Sha, Norihide; Kuroda, Ryosuke; Nishida, Kotaro

2017-01-01

Spondylolysis is a major cause of back pain in children and adolescents. The prevalence of spondylolysis depends on the sex, race, and congenital abnormality. These biases suggest hereditary predisposition as an etiology of spondylolysis. However, no conclusive evidence still exists regarding the inheritance for spondylolysis. Herein, we report rare cases with familial occurrence of lumbar spondylolysis. In two generations of a Japanese family, three brothers including identical twins complained of back pain related to sports activities. Clinical, radiographic, and computed tomographic examinations identified spondylolysis at L4 and L5 in all these boys. The father experienced long-term back pain and had spondylolisthesis at L4-L5 and healed spondylolysis at L5. The daughter and mother did not show any lumbar spondylolysis. The frequent development of spondylolysis at L4, a rarely affected segment, in four of six family members (66.7%) support that lumbar spondylolysis has an underlying genetic etiology, primarily autosomal dominant inheritance.

Exploratory subsetting of autism families based on savant skills improves evidence of genetic linkage to 15q11-q13.

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Nurmi, Erika L; Dowd, Michael; Tadevosyan-Leyfer, Ovsanna; Haines, Jonathan L; Folstein, Susan E; Sutcliffe, James S

2003-07-01

Autism displays a remarkably high heritability but a complex genetic etiology. One approach to identifying susceptibility loci under these conditions is to define more homogeneous subsets of families on the basis of genetically relevant phenotypic or biological characteristics that vary from case to case. The authors performed a principal components analysis, using items from the Autism Diagnostic Interview, which resulted in six clusters of variables, five of which showed significant sib-sib correlation. The utility of these phenotypic subsets was tested in an exploratory genetic analysis of the autism candidate region on chromosome 15q11-q13. When the Collaborative Linkage Study of Autism sample was divided, on the basis of mean proband score for the "savant skills" cluster, the heterogeneity logarithm of the odds under a recessive model at D15S511, within the GABRB3 gene, increased from 0.6 to 2.6 in the subset of families in which probands had greater savant skills. These data are consistent with the genetic contribution of a 15q locus to autism susceptibility in a subset of affected individuals exhibiting savant skills. Similar types of skills have been noted in individuals with Prader-Willi syndrome, which results from deletions of this chromosomal region.

Genetic variations in multiple myeloma I

DEFF Research Database (Denmark)

Vangsted, A.; Klausen, T.W.; Vogel, Ulla Birgitte

2012-01-01

Few risk factors have been established for the plasma cell disorder multiple myeloma, but some of these like African American ethnicity and a family history of B-cell lymphoproliferative diseases suggest a genetic component for the disease. Genetic variation represents the genetic basis of variab......Few risk factors have been established for the plasma cell disorder multiple myeloma, but some of these like African American ethnicity and a family history of B-cell lymphoproliferative diseases suggest a genetic component for the disease. Genetic variation represents the genetic basis...

New Trends and Directions in Ethnic Identity among Internationally Transracially Adopted Persons: Summary of Special Issue

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Rosnati, Rosa; Pinderhughes, Ellen E.; Baden, Amanda L.; Grotevant, Harold D.; Lee, Richard M.; Mohanty, Jayashree

2015-01-01

The collective findings of the six articles in this special issue highlight the importance of ethnic-racial socialization and ethnic identity among international transracial adoptees (ITRAs). A multidimensional developmental phenomenon, ethnic identity intersects with other identities, notably adoptive identity. Family, peers, community, and host…

Genetic identification of the bacteriocins produced by Enterococcus faecium IT62 and evidence that bacteriocin 32 is identical to enterocin IT.

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Izquierdo, Esther; Cai, Yimin; Marchioni, Eric; Ennahar, Saïd

2009-05-01

Enterococcus faecium IT62, a strain isolated from ryegrass in Japan, produces three bacteriocins (enterocins L50A, L50B, and IT) that have been previously purified and the primary structures of which have been determined by amino acid sequencing (E. Izquierdo, A. Bednarczyk, C. Schaeffer, Y. Cai, E. Marchioni, A. Van Dorsselaer, and S. Ennahar, Antimicrob. Agents Chemother., 52:1917-1923, 2008). Genetic analysis showed that the bacteriocins of E. faecium IT62 are plasmid encoded, but with the structural genes specifying enterocin L50A and enterocin L50B being carried by a plasmid (pTAB1) that is separate from the one (pTIT1) carrying the structural gene of enterocin IT. Sequencing analysis of a 1,475-bp region from pTAB1 identified two consecutive open reading frames corresponding, with the exception of 2 bp, to the genes entL50A and entL50B, encoding EntL50A and EntL50B, respectively. Both bacteriocins are synthesized without N-terminal leader sequences. Genetic analysis of a sequenced 1,380-bp pTIT1 fragment showed that the genes entIT and entIM, encoding enterocin IT and its immunity protein, respectively, were both found in E. faecium VRE200 for bacteriocin 32. Enterocin IT, a 6,390-Da peptide made up of 54 amino acids, has been previously shown to be identical to the C-terminal part of bacteriocin 32, a 7,998-Da bacteriocin produced by E. faecium VRE200 whose structure was deduced from its structural gene (T. Inoue, H. Tomita, and Y. Ike, Antimicrob. Agents Chemother., 50:1202-1212, 2006). By combining the biochemical and genetic data on enterocin IT, it was concluded that bacteriocin 32 is in fact identical to enterocin IT, both being encoded by the same plasmid-borne gene, and that the N-terminal leader peptide for this bacteriocin is 35 amino acids long and not 19 amino acids long as previously reported.

Family-based exome-wide assessment of maternal genetic effects on susceptibility to childhood B-cell acute lymphoblastic leukemia in Hispanics

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Archer, Natalie P.; Perez-Andreu, Virginia; Scheurer, Michael E.; Rabin, Karen R.; Peckham-Gregory, Erin C.; Plon, Sharon E.; Zabriskie, Ryan C.; De Alarcon, Pedro A.; Fernandez, Karen S.; Najera, Cesar R.; Yang, Jun J.; Antillon-Klussmann, Federico; Lupo, Philip J.

2016-01-01

Background Children of Hispanic ancestry have a higher incidence of acute lymphoblastic leukemia (ALL) than other ethnic groups, but the genetic basis for racial disparities remain incompletely understood. Genome-wide association studies (GWAS) of childhood ALL to date have focused on inherited genetic effects; however, maternal genetic effects (the role of maternal genotype on offspring phenotype development) may also play a role in ALL susceptibility. Methods We conducted a family-based exome-wide association study (EXWAS) of maternal genetic effects among Hispanics with childhood B-cell ALL (B-ALL) using the Illumina Human Exome BeadChip. We used a discovery cohort of 312 Guatemalan and Hispanic American families and an independent replication cohort of 152 Hispanic American families. Results Three maternal SNPs approached our threshold for significance, after correction for multiple testing (P<1.0×10−6): MTL5 rs12365708 (RR=2.62, 95% CI=1.61-4.27, P=1.8×10−5); ALKBH1 rs6494 (RR=3.77, 95% CI=1.84-7.74, P=3.7×10−5); NEUROG3 rs4536103 (RR=1.75, 95% CI=1.30-2.37, P=1.2×10−4). While effect sizes were similar, these SNPs were not nominally significant in our replication cohort. In a meta-analysis comprised of the discovery cohort and the replication cohort, these SNPs were still not statistically significant after correction for multiple comparisons (rs12365708: pooled RR=2.27, 95% CI=1.48-3.50, P=1.99×10−4; rs6494: pooled RR=2.31, 95% CI=1.38-3.85, P=0.001; rs4536103: pooled RR=1.67, 95% CI=1.29-2.16, P=9.23×10−5). Conclusions In the first family-based EXWAS to investigate maternal genotype effects associated with childhood ALL, our results did not implicate a strong role of maternal genotype on disease risk among Hispanics; however, we identified three maternal SNPs that may play a modest role in susceptibility. PMID:27529658

Narrating Identity: the Employment of Mythological and Literary Narratives in Identity Formation Among the Hijras of India

Directory of Open Access Journals (Sweden)