Variation in 5' promoter region of the APOE gene contributes to predicting ischemic heart disease (IHD) in the population at large: the Copenhagen City Heart Study.

abstract：:For many complex diseases, study has suggested that the disease genes influence not only the occurrence of the disease, but also the age of onset. Current methods in linkage analysis are mainly concentrated on affected relative pairs or affected family members, and age of onset information is either ignored or is take...

journal_title：Annals of human genetics

authors： Li H,Huang J

更新日期：1998-07-01 00:00:00

abstract：:The lysosomal storage disorder glycogenosis type II, caused by a deficiency of lysosomal alpha-glucosidase, is very heterogeneous in its clinical presentation. It has been suggested that this heterogeneity may be due to differential expression of neutral alpha-glucosidases. We have therefore analysed the activity of t...

journal_title：Annals of human genetics

authors： Van der Ploeg AT,Kroos MA,Swallow DM,Reuser AJ

更新日期：1989-05-01 00:00:00

abstract：:The gene MUC3 which codes for a mucin expressed in intestine (Gum et al. 1990) has previously been mapped, using somatic cell hybrids, to chromosome 7. We describe here the regional localization of MUC3 to chromosome 7q22 by in situ hybridization. Preliminary linkage analysis using CEPH (Centre d'Etude du Polymorphism...

journal_title：Annals of human genetics

authors： Fox MF,Lahbib F,Pratt W,Attwood J,Gum J,Kim Y,Swallow DM

更新日期：1992-10-01 00:00:00

abstract：:Specific language impairment (SLI) is defined as an inability to develop appropriate language skills without explanatory medical conditions, low intelligence or lack of opportunity. Previously, a genome scan of 98 families affected by SLI was completed by the SLI Consortium, resulting in the identification of two quan...

journal_title：Annals of human genetics

authors： Monaco AP

更新日期：2007-09-01 00:00:00

abstract：:To detect linkage between a trait and a marker, Morton (1955) proposed to calculate the lod score z(theta 1) at a given value theta 1 of the recombination fraction. If z(theta 1) reaches +3 then linkage is concluded. However, in practice, lod scores are calculated for different values of the recombination fraction bet...

journal_title：Annals of human genetics

authors： Génin E,Martinez M,Clerget-Darpoux F

更新日期：1995-01-01 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：:This journal began in 1925 as the Annals of Eugenics. Much has changed since then. The original Editors' primary eugenic objective was not achieved, and eugenics justifiably became notorious for racism and gross abuse of human rights. But one founding aim was to publish advances in statistical genetics, and that objec...

journal_title：Annals of human genetics

authors： Weiss KM,Lambert BW

更新日期：2011-05-01 00:00:00

abstract：:In a landmark study Rosenberg et al. (2002) analyzed human genome diversity with 377 microsatellites in the HGDP-CEPH Genome Diversity Panel and reported that the populations were structured into five geographical regions: America, Sub-Saharan Africa, East Asia, Oceania and a cluster composed of Europe, the Middle Eas...

journal_title：Annals of human genetics

authors： Bastos-Rodrigues L,Pimenta JR,Pena SD

更新日期：2006-09-01 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：:The robust sib-pair method introduced by Haseman & Elston (1972) is one of the most widely circulated allele-sharing methods for linkage analysis. The procedure evaluates linkage by significance testing of a regression coefficient and, hence, a standard t-test has traditionally been applied despite known violations of...

journal_title：Annals of human genetics

authors： Wan Y,Cohen J,Guerra R

更新日期：1997-01-01 00:00:00

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：:We set out to determine whether expansions in the C9ORF72 repeat found in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) families are associated with Parkinson disease (PD). We determined the repeat size in a total of 889 clinically ascertained patients (including PD and essential tremor plus Pa...

journal_title：Annals of human genetics

authors： Nuytemans K,Bademci G,Kohli MM,Beecham GW,Wang L,Young JI,Nahab F,Martin ER,Gilbert JR,Benatar M,Haines JL,Scott WK,Züchner S,Pericak-Vance MA,Vance JM

更新日期：2013-09-01 00:00:00

abstract：:Although autism is one of the most heritable neuropsychiatric disorders, its underlying genetic architecture has largely eluded description. To comprehensively examine the hypothesis that common variation is important in autism, we performed a genome-wide association study (GWAS) using a discovery dataset of 438 autis...

journal_title：Annals of human genetics

authors： Ma D,Salyakina D,Jaworski JM,Konidari I,Whitehead PL,Andersen AN,Hoffman JD,Slifer SH,Hedges DJ,Cukier HN,Griswold AJ,McCauley JL,Beecham GW,Wright HH,Abramson RK,Martin ER,Hussman JP,Gilbert JR,Cuccaro ML,Haines JL

更新日期：2009-05-01 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：: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：: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：:Polymorphisms of the triggering receptor expressed on myeloid cells 2 (TREM2) gene have been reported to be potentially associated with the risks of developing frontotemporal lobar degeneration (FTLD), with inconsistent conclusions. This study aims to comprehensively investigate the potential role of TREM2 variants in...

journal_title：Annals of human genetics

authors： Su WH,Shi ZH,Liu SL,Wang XD,Liu S,Ji Y

更新日期：2018-07-01 00:00:00

abstract：:We have investigated 31 families segregation for Hunter Syndrome in order to advance our understanding of the genetics of this disease. The hair root test for the diagnosis of carriers of Hunter Syndrome was improved by the adoption of a new diagnostic index that distinguishes between carrier and normal females better...

journal_title：Annals of human genetics

authors： Chase DS,Morris AH,Ballabio A,Pepper S,Giannelli F,Adinolfi M

更新日期：1986-10-01 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：: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：:Hereditary hearing impairment is the most genetically heterogeneous trait known in humans. So far, 50 published autosomal recessive non-syndromic hearing impairment (ARNSHI) loci have been mapped, and 23 ARNSHI genes have been identified. Here, we report the mapping of a novel ARNSHI locus, DFNB63, to chromosome 11q13...

journal_title：Annals of human genetics

authors： Tlili A,Masmoudi S,Dhouib H,Bouaziz S,Rebeh IB,Chouchen J,Turki K,Benzina Z,Charfedine I,Drira M,Ayadi H

更新日期：2007-03-01 00:00:00

abstract：:Genetic variations in cardiac ion channels have been implicated not only as the causes of inherited arrhythmic syndromes, but also as genetic risk factors for some acquired arrhythmias. To elucidate the potential roles of genetic polymorphisms of the alpha subunit of the voltage-gated sodium channel type V (SCN5A) in ...

journal_title：Annals of human genetics

authors： Maekawa K,Saito Y,Ozawa S,Adachi-Akahane S,Kawamoto M,Komamura K,Shimizu W,Ueno K,Kamakura S,Kamatani N,Kitakaze M,Sawada J

更新日期：2005-07-01 00:00:00

abstract：:Pure subtelomeric deletion of the long arm of chromosome 6 is rare. The frequency of this deletion accounts for approximately 0.05% of subjects with intellectual disability and developmental delay with or without dysmorphic features. Common phenotypes associated with this deletion include intellectual disability, deve...

journal_title：Annals of human genetics

authors： Lee JY,Cho YH,Hallford G

更新日期：2011-11-01 00:00:00

abstract：:To investigate patterns of diversity and the evolutionary history of Eurasians, we have sequenced a 2.8 kb region at Xp11.23 in a sample of African and Eurasian chromosomes. This region is in a long intron of CLCN5 and is immediately flanked by a highly variable minisatellite, DXS255, and a human-specific Ta0 LINE. Co...

journal_title：Annals of human genetics

authors： Alonso S,Armour JA

更新日期：2004-09-01 00:00:00

abstract：:It is show that Wright's F-statistics can be defined as ratios of gene diversities of heterozygosities rather than as the correlations of uniting gametes. This definition is applicable irrespective of the number of alleles involved or whether there is selection or not. The relationship between F-statistics and Nei's g...

journal_title：Annals of human genetics

authors： Nei M

更新日期：1977-10-01 00:00:00

abstract：:The Samaritan community is a small, isolated, and highly endogamous group numbering some 650 members who have maintained extensive genealogical records for the past 13-15 generations. We performed mutation detection experiments on mitochondrial DNAs and Y chromosomes from confirmed maternal and paternal lineages to es...

journal_title：Annals of human genetics

authors： Bonné-Tamir B,Korostishevsky M,Redd AJ,Pel-Or Y,Kaplan ME,Hammer MF

更新日期：2003-03-01 00:00:00

abstract：:Selection of important genetic and environmental factors is of strong interest in quantitative trait analyses. In this study, we use parallel genetic algorithm (PGA) to identify genetic and environmental factors in genetic association studies of complex human diseases. Our method can take account of both multiple mark...

journal_title：Annals of human genetics

authors： Mukhopadhyay S,George V,Xu H

更新日期：2010-01-01 00:00:00

abstract：:The protein tyrosine phosphatase N22 (PTPN22) gene C1858T polymorphism has been reported to be associated with susceptibility to type 1 diabetes (T1D) in relatively small sample sizes. This study aimed at investigating the pooled association by carrying out a meta-analysis on the published studies. The Medline, EBSCO,...

journal_title：Annals of human genetics

authors： Xuan C,Lun LM,Zhao JX,Wang HW,Zhu BZ,Yu S,Liu Z,He GW

更新日期：2013-05-01 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

abstract：:We report data on diagnoses made on amniotic fluid specimens from 1977 to 1984 as reported to the New York State Chromosome Registry. The rate of all de novo (presumed mutant) abnormalities was about 2 per 1,000 in about 61,000 fetuses in which results are unlikely to be biased by the reason for amniocentesis (except ...

journal_title：Annals of human genetics

authors： Hook EB,Cross PK

更新日期：1987-01-01 00:00:00