Refined association mapping for a quantitative trait: weight in the H19-IGF2-INS-TH region.

abstract：:In a study based on 173 individuals drawn from three endogamous, co-resident communities in the province of Punjab, the Awan, Khattar and Rajpoot, an analysis of 10 autosomal single tandem repeats on chromosomes 13 and 15 revealed distinctive genetic profiles in each community. A total of 99 different alleles were det...

journal_title：Annals of human genetics

authors： Wang W,Sullivan SG,Ahmed S,Chandler D,Zhivotovsky LA,Bittles AH

更新日期：2000-01-01 00:00:00

abstract：:Traditional quantitative trait locus (QTL) analysis focuses on identifying loci associated with mean heterogeneity. Recent research has discovered loci associated with phenotype variance heterogeneity (vQTL), which is important in studying genetic association with complex traits, especially for identifying gene-gene a...

journal_title：Annals of human genetics

authors： Cao Y,Maxwell TJ,Wei P

更新日期：2015-01-01 00:00:00

abstract：:Familial hypercholesterolemia (FH) is caused by mutations in the genes for LDLR, APOB or PCSK9, and identification of the causative mutation provides definitive diagnosis so that the patient can be treated, their relatives tested and, therefore, premature heart disease prevented. DNA of eight unrelated individuals wit...

journal_title：Annals of human genetics

authors： Pećin I,Whittall R,Futema M,Sertić J,Reiner Z,Leigh SE,Humphries SE

更新日期：2013-01-01 00:00:00

abstract：:Using in situ hybridization, c-erbA1 has been mapped immediately distal to the translocation breakpoint on chromosome 17 in fibroblasts with a karyotype 46,XX, t(15;17)(q22;q11). Previous work has shown that c-erbA1 is proximal to the translocation breakpoint on chromosome 17 in the t(15;17)(q22;q12-21) in acute promy...

journal_title：Annals of human genetics

authors： Sheer D,Sheppard DM,le Beau M,Rowley JD,San Roman C,Solomon E

更新日期：1985-07-01 00:00:00

abstract：:Fourteen triploid spontaneous abortuses were studied cytogenetically by sequential Q and C banding and the marker chromosomes were compared with those of the parents. The abortuses comprised all triploid cases in a series of 288 consecutive abortuses of the first 16 weeks of pregnancy occurring in one hospital. In 12 ...

journal_title：Annals of human genetics

authors： Lauritsen JG,Bolund L,Friedrich U,Therkelsen AJ

更新日期：1979-07-01 00:00:00

abstract：:Animal studies have shown that the peroxime proliferator-activated receptor delta (PPARD) gene regulates glucose metabolism and insulin sensitivity. Genetic variation in the PPARD gene might affect physical endurance and has been associated with obesity. We investigated the independent and modifying effect of variants...

journal_title：Annals of human genetics

authors： Villegas R,Williams S,Gao Y,Cai Q,Li H,Elasy T,Cai H,Edwards T,Xiang YB,Zheng W,Long J,Ou Shu X

更新日期：2011-09-01 00:00:00

abstract：:Co-segregation studies based on a selection of intragenic restriction fragment length polymorphisms of the low density lipoprotein receptor (LDLR) gene have been used extensively both for research and diagnostic studies of familial hypercholesterolaemia (FH) families, because direct mutation screening remains complex....

journal_title：Annals of human genetics

authors： Haddad L,Day LB,Attwood J,Povey S,Humphries SE,Day IN

更新日期：1997-11-01 00:00:00

abstract：:In the process of genetically mapping a complex disease, the question may arise whether a certain polymorphism is the only causal variant in a region. A number of methods can answer this question, but unfortunately these methods are optimal for bi-allelic loci only. We wanted to develop a method that is more suited fo...

journal_title：Annals of human genetics

authors： Spijker GT,Nolte IM,Jansen RC,Te Meerman GJ

更新日期：2005-01-01 00:00:00

abstract：:Isolated population groups are useful in conducting association studies of complex diseases to avoid various pitfalls, including those arising from population stratification. Since DNA resequencing is expensive, it is recommended that genotyping be carried out at tagSNP (tSNP) loci. For this, tSNPs identified in one i...

journal_title：Annals of human genetics

authors： Sarkar Roy N,Farheen S,Roy N,Sengupta S,Majumder PP

更新日期：2008-01-01 00:00:00

abstract：:There is a need for interdisciplinary assessments and interpretations of -omics underpinnings of human complex diseases. However, often investigators from different, yet overlapping, disciplines experience difficulties in understanding the other discipline's language and there is a clear need for establishing a platfo...

journal_title：Annals of human genetics

authors： Van Steen K,Sleegers K

更新日期：2011-07-01 00:00:00

abstract：:The use of IBD proportions from a large set of affected sib-pair data to estimate some or all of the main parameters describing the inheritance of a disease susceptibility gene is here considered. We assume there is no recombination present and neglect ascertainment bias, and assume that there are four distinct parent...

journal_title：Annals of human genetics

authors： Green JR,Shah S

更新日期：1996-03-01 00:00:00

abstract：:HLA typing was conducted on 577 family members of 86 families having at least two first-degree family members with a lifetime history of major depression or bipolar disorder. The results were combined with a follow-up study of 10 Newfoundland kindreds and with the data obtained from our previous studies, giving a tota...

journal_title：Annals of human genetics

authors： Stancer HC,Weitkamp LR,Persad E,Flood C,Jorna T,Guttormsen SA,Yagnow RL

更新日期：1988-10-01 00:00:00

abstract：:Sibship methods have been shown to be more powerful than traditional sib-pair methods in mapping quantative trait loci. We propose a statistical procedure which integrates data on sibships into a so-called 'contrast function', a natural extension of the classical squared sib-pair trait difference proposed by Haseman &...

journal_title：Annals of human genetics

authors： Ghosh S,Reich T

更新日期：2002-03-01 00:00:00

abstract：:Information on family history and age of onset of breast cancer is examined in an attempt to distinguish between postulated early and late onset forms of breast cancer and to estimate the familial correlation between any subforms that may exist. Data are taken from the Cancer and Steroid Hormone Study, a multicentre, ...

journal_title：Annals of human genetics

authors： Claus EB,Risch NJ,Thompson WD

更新日期：1990-05-01 00:00:00

abstract：:We estimate the population genetics parameter FST (also referred to as the fixation index) from short tandem repeat (STR) allele frequencies, comparing many worldwide human subpopulations at approximately the national level with continental-scale populations. FST is commonly used to measure population differentiation,...

journal_title：Annals of human genetics

authors： Steele CD,Court DS,Balding DJ

更新日期：2014-11-01 00:00:00

abstract：:Hearing loss (HL) is the most common birth defect and the most prevalent sensorineural condition worldwide. It is associated with more than 1,000 mutations in at least 90 genes. Mutations of the gap junction beta-2 protein (GJB2) gene located in the nonsyndromic hearing loss and deafness (DFNB1) locus (chromosome 13q1...

journal_title：Annals of human genetics

authors： Azadegan-Dehkordi F,Ahmadi R,Koohiyan M,Hashemzadeh-Chaleshtori M

更新日期：2019-01-01 00:00:00

abstract：INTRODUCTION:Currently, next-generation sequencing (NGS) technology is more accessible and available to detect the genetic causation of diseases. Though NGS technology benefited some clinical phenotypes, for some clinical diagnoses such as seizures and epileptic disorders, adaptation occurred slowly. The genetic diagno...

journal_title：Annals of human genetics

authors： Alsubaie L,Aloraini T,Amoudi M,Swaid A,Eyiad W,Al Mutairi F,Ababneh F,Alrifai MT,Baarmah D,Altwaijri W,Alotaibi N,Harthi A,Rumayyan A,Alanazi A,Qrimli M,Alfadhel M,Alfares A

更新日期：2020-11-01 00:00:00

abstract：:Estimating haplotype relative risks in a family-based study is complicated by phase ambiguity and the many parameters needed to quantify relative risks for all possible diplotypes. This problem becomes manageable if a particular haplotype has been implicated previously as relevant to risk. We fit log-linear models to ...

journal_title：Annals of human genetics

authors： Shi M,Umbach DM,Weinberg CR

更新日期：2009-05-01 00:00:00

abstract：:Some studies of mtDNA propose that contemporary Amerindians have descended from four haplotype groups, each defined by specific sets of polymorphisms. One recent study also found evidence of other potential founder haplotypes. We wanted to determine whether the four haplotypes in modern populations were also present i...

journal_title：Annals of human genetics

authors： Monsalve MV,Cardenas F,Guhl F,Delaney AD,Devine DV

更新日期：1996-07-01 00:00:00

abstract：:A highly informative dinucleotide repeat polymorphism has been identified at the D11S614 locus on chromosome 11q23. Ten different alleles have been observed at this locus, and the heterozygosity frequency is approximately 85%. Physical localization of this marker in a panel of somatic cell hybrids containing chromosom...

journal_title：Annals of human genetics

authors： Benham F,Sugiyama R,Hunt D,Gillett G,Smith M

更新日期：1993-10-01 00:00:00

abstract：:Polymorphisms of the promoter region (-108C/T) and the coding region (192Q/R) of the paraoxonase 1 gene (PON1) showed differences in association with cardiovascular disease risk in various populations. To characterize the genetic variation underlying these important polymorphisms, we examined DNA sequence variation bo...

journal_title：Annals of human genetics

authors： Koda Y,Tachida H,Soejima M,Takenaka O,Kimura H

更新日期：2004-03-01 00:00:00

abstract：:We determine the power of variance component linkage analysis in the case of discrete, dichotomous traits analyzed under a classical liability threshold model. For simplicity we consider randomly ascertained samples and an additive model of variation incorporating a qtl, residual additive genetic factors, and individu...

journal_title：Annals of human genetics

authors： Williams JT,Blangero J

更新日期：2004-11-01 00:00:00

abstract：:Alpha2-HS glycoprotein (AHSG), which is equivalent to fetuin in other species, is a protein found in human plasma. AHSG is polymorphic with two common alleles and many variants. To examine the intragenic haplotypes and their diversity at this locus, a contiguous genomic DNA sequence (10.3 kb) was analyzed in 20 sample...

journal_title：Annals of human genetics

authors： Osawa M,Yuasa I,Kitano T,Henke J,Kaneko M,Udono T,Saitou N,Umetsu K

更新日期：2001-01-01 00:00:00

abstract：:It is shown that in the equilibrium position with respect to the assortative mating process given by Fisher's (1918) model, the population is in linkage disequilibrium, contrary to a result given by Vetta (1975). ...

journal_title：Annals of human genetics

authors： Wilson SR

更新日期：1978-07-01 00:00:00

abstract：:The segregation of human cytosolic alanine aminotransferase (AAT1) and the individual human chromosomes has been studied in 27 secondary and tertiary rat hepatoma-human (liver) fibroblast hybrids. The staining solution used to visualize AAT activity on starch gels was specific for AAT since it was visualized only when...

journal_title：Annals of human genetics

authors： Astrin KH,Arredondo-Vega FX,Desnick RJ,Smith M

更新日期：1982-05-01 00:00:00

abstract：:The CACH/VWM syndrome is an autosomal recessive leukodystrophy characterized by a broad spectrum of clinical presentations and by diffuse cavitary degeneration of the white matter on MRI. Mutations responsible for this disorder are missense or frameshift mutations occurring in the five genes (EIF2B1-5) that encode the...

journal_title：Annals of human genetics

authors： Horzinski L,Gonthier C,Rodriguez D,Scherer C,Boespflug-Tanguy O,Fogli A

更新日期：2008-05-01 00:00:00

abstract：:1. The use of SDS electrophoresis as a tool for the analysis of development processes in man has been evaluated. 2. The protein profiles of cardiac and skeletal muscle from foetal (10--24 weeks gestation) infant and adult specimens have been analysed and striking developmental changes were found which involved all the...

journal_title：Annals of human genetics

authors： Tipler TD,Edwards YH,Hopkinson DA

更新日期：1978-05-01 00:00:00

abstract：:Details of placentation and zygosity are reported from a survey of 627 consecutive twin births at three hospitals in Northern Nigeria. Zygosity was determined by study of sex, red cell antigens (ABO, MNSs and Rh) and placental enzymes (PGM1, PGM2, PGM3 and Pep A). The proportion of DZ twins amongst the various ethnic ...

journal_title：Annals of human genetics

authors： Nylander PP,Corney G

更新日期：1977-01-01 00:00:00

abstract：:Myasthenia gravis (MG) is considered to be a kind of autoimmune disorder resulting from dysfunction of neuromuscular transmission caused by autoantibodies against the nicotinic acetylcholine receptors. A number of studies have identified Cytotoxic T-lymphocyte-associated antigen-4 (CTLA-4) as a candidate gene for MG. ...

journal_title：Annals of human genetics

authors： Li F,Yuan W,Wu X

更新日期：2018-11-01 00:00:00

abstract：:Congenital disorders of glycosylation (CDG) represent an expanding group of conditions that result from defects in protein and lipid glycosylation. Different subgroups of CDG display considerable clinical and genetic heterogeneity due to the highly complex nature of cellular glycosylation. This is further complicated ...

journal_title：Annals of human genetics

authors： Bastaki F,Bizzari S,Hamici S,Nair P,Mohamed M,Saif F,Malik EM,Al-Ali MT,Hamzeh AR

更新日期：2018-01-01 00:00:00