Optimal sampling for pedigree analysis: tracing a single gene

1982 ◽  
Vol 14 (4) ◽  
pp. 752-762 ◽  
Author(s):  
E. A. Thompson
Keyword(s):  
Probability Distribution ◽  
Single Gene ◽  
Pedigree Analysis ◽  
Genetic Models ◽  
Optimal Sampling ◽  
Large Pedigree ◽  
Sequential Procedures ◽  
Rare Gene ◽  
Enhance Efficiency ◽  
Sampling Rule

In fitting genetic models on the basis of observations on an interrelated structure, sequential procedures can enhance efficiency. In this paper we consider the case of a rare gene segregating in a single large pedigree. The sampling rule is dictated by the effect of observations on the genotypic probability distribution of unobserved relatives; this effect is investigated.

Optimal sampling for pedigree analysis: tracing a single gene

1982 ◽  
Vol 14 (04) ◽  
pp. 752-762
Author(s):  
E. A. Thompson
Keyword(s):  
Probability Distribution ◽  
Single Gene ◽  
Pedigree Analysis ◽  
Genetic Models ◽  
Optimal Sampling ◽  
Large Pedigree ◽  
Sequential Procedures ◽  
Rare Gene ◽  
Enhance Efficiency ◽  
Sampling Rule

In fitting genetic models on the basis of observations on an interrelated structure, sequential procedures can enhance efficiency. In this paper we consider the case of a rare gene segregating in a single large pedigree. The sampling rule is dictated by the effect of observations on the genotypic probability distribution of unobserved relatives; this effect is investigated.

scholarly journals Contributions of Rare Gene Variants to Familial and Sporadic FSGS

2019 ◽  
Vol 30 (9) ◽  
pp. 1625-1640 ◽  
Author(s):  
Minxian Wang ◽  
Justin Chun ◽  
Giulio Genovese ◽  
Andrea U. Knob ◽  
Ava Benjamin ◽  
...  
Keyword(s):  
Rare Variants ◽  
Single Gene ◽  
Genetic Diagnosis ◽  
Unrelated Family ◽  
The Past ◽  
New Genes ◽  
Rare Gene ◽  
Gene Defects ◽  
Disease Associated Genes ◽  
Burden Tests

BackgroundOver the past two decades, the importance of genetic factors in the development of FSGS has become increasingly clear. However, despite many known monogenic causes of FSGS, single gene defects explain only 30% of cases.MethodsTo investigate mutations underlying FSGS, we sequenced 662 whole exomes from individuals with sporadic or familial FSGS. After quality control, we analyzed the exome data from 363 unrelated family units with sporadic or familial FSGS and compared this to data from 363 ancestry-matched controls. We used rare variant burden tests to evaluate known disease-associated genes and potential new genes.ResultsWe validated several FSGS-associated genes that show a marked enrichment of deleterious rare variants among the cases. However, for some genes previously reported as FSGS related, we identified rare variants at similar or higher frequencies in controls. After excluding such genes, 122 of 363 cases (33.6%) had rare variants in known disease-associated genes, but 30 of 363 controls (8.3%) also harbored rare variants that would be classified as “causal” if detected in cases; applying American College of Medical Genetics filtering guidelines (to reduce the rate of false-positive claims that a variant is disease related) yielded rates of 24.2% in cases and 5.5% in controls. Highly ranked new genes include SCAF1, SETD2, and LY9. Network analysis showed that top-ranked new genes were located closer than a random set of genes to known FSGS genes.ConclusionsAlthough our analysis validated many known FSGS-causing genes, we detected a nontrivial number of purported “disease-causing” variants in controls, implying that filtering is inadequate to allow clinical diagnosis and decision making. Genetic diagnosis in patients with FSGS is complicated by the nontrivial rate of variants in known FSGS genes among people without kidney disease.

BONE MORPHOGENIC PROTEIN RECEPTOR TYPE 1 B MUTATION: ETIOLOGY OF CONGENITAL ANOMALIES OF THE KIDNEY AND URINARY TRACT IN A LARGE PEDIGREE ANALYSIS

2008 ◽  
Vol 179 (4S) ◽  
pp. 218-218
Author(s):  
Douglas Storm ◽  
Patrick Davol ◽  
Daniel B Rukstalis ◽  
Alice Cavanaugh ◽  
Glenn Gerhard ◽  
...  
Keyword(s):  
Urinary Tract ◽  
Congenital Anomalies ◽  
Pedigree Analysis ◽  
Bone Morphogenic Protein ◽  
Receptor Type ◽  
Large Pedigree ◽  
Protein Receptor

One Gene vs. Two Genes in Schizophrenia

1974 ◽  
Vol 125 (587) ◽  
pp. 348-349 ◽  
Author(s):  
Carol Buck
Keyword(s):  
Single Gene ◽  
Genetic Models ◽  
Intermediate Model ◽  
Genetic Mechanisms

Arguments about the role of heredity in schizophrenia have largely given way to arguments about the genetic mechanisms involved. Discussions of the various genetic models by leading workers in the field have been presented in recent years (Rosenthal and Kety, 1968; Kaplan, 1972). Single gene theories have prevailed, Slater's intermediate model being preferred because of its good fit with the observed risks of schizophrenia in specific categories of blood relatives (Slater and Cowie, 1971).

scholarly journals Cattle Sex-Specific Recombination and Genetic Control from a Large Pedigree Analysis

PLoS Genetics ◽  
2015 ◽  
Vol 11 (11) ◽  
pp. e1005387 ◽  
Author(s):  
Li Ma ◽  
Jeffrey R. O'Connell ◽  
Paul M. VanRaden ◽  
Botong Shen ◽  
Abinash Padhi ◽  
...  
Keyword(s):  
Genetic Control ◽  
Pedigree Analysis ◽  
Large Pedigree

scholarly journals Genetic and reproductive consequences of consanguineous marriage in Bangladesh

PLoS ONE ◽  
2020 ◽  
Vol 15 (11) ◽  
pp. e0241610
Author(s):  
Saeed Anwar ◽  
Jarin Taslem Mourosi ◽  
Yasir Arafat ◽  
Mohammad Jakir Hosen
Keyword(s):  
Heart Diseases ◽  
Single Gene ◽  
Sociodemographic Factors ◽  
Pedigree Analysis ◽  
Consanguineous Marriage ◽  
Multifactorial Diseases ◽  
Secondary Sex Ratio ◽  
Lethal Equivalents ◽  
Reproductive Consequences ◽  
Genetic Burden

Introduction This study aimed to assess the prevalence, sociodemographic factors, reproductive consequences, and heritable disease burdens associated with consanguineous marriage (CM) in Bangladesh. Methods A total of 7,312 families, including 3,694 CM-families, were recruited from 102 locales of 58 districts of Bangladesh. Using a standard questionnaire, we collected medical history and background sociodemographic data of these families. Family history was assessed by pedigree analysis. Fertility, mortality, secondary sex ratio, selection intensity, lethal equivalents were measured using standard methods. Results The mean prevalence of CM in our studied population was 6.64%. Gross fertility was higher among CM families, as compared to the non-CM families (p < 0.05). The rate of under-5 child (U5) mortality was significantly higher among CM families (16.6%) in comparison with the non-CM families (5.8%) (p < 0.01). We observed a persuasive rise of abortion/miscarriage and U5 mortality rates with the increasing level of inbreeding. The value of lethal equivalents per gamete found elevated for autosomal inheritances as compared to sex-linked inheritance. CM was associated with the incidence of several single-gene and multifactorial diseases, and congenital malformations, including bronchial asthma, hearing defect, heart diseases, sickle cell anemia (p < 0.05). The general attitude and perception toward CM were rather indifferent, and very few people were concerned about its genetic burden. Conclusion This study highlights the harmful consequences of CM on reproductive behavior and the incidence of hereditary conditions. It essences the need for genetic counseling from premarital to postnatal levels in Bangladesh.

Sign in / Sign up

Export Citation Format

Share Document