A note on allelic tests in case-control association studies.

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：:Peripheral blood from six patients with Huntington's disease (HD) and six controls were cultured in three types of media known to produce fragile sites. A total of 3000 metaphases per group were scrutinized in a blind coded study. No significantly specific 'hot-spot' was found capable of differentiating between HD pat...

journal_title：Annals of human genetics

authors： Beverstock GC,Mol A,Wienhofer E

更新日期：1985-10-01 00:00:00

abstract：:1. Two methods have been devised for the detection after electrophoresis of gamma-aminobutyric acid transaminase (GABAT) isozymes. 2. GABAT isozymes can be detected in liver, brain, kidney, pancreas, heart, testis. spinal cord and upper jejunum. The greatest activity occurs in liver. 3. Three different commonly occurr...

journal_title：Annals of human genetics

authors： Jeremiah S,Povey S

更新日期：1981-07-01 00:00:00

abstract：:The expected power of genome-wide linkage disequilibrium (LD) testing for a low-frequency disease variant was examined using a simple genetic model in which the degree of LD between the disease variant and the adjacent single nucleotide polymorphism (SNP) marker decreases in proportion to the number of generations sin...

journal_title：Annals of human genetics

authors： Ohashi J,Tokunaga K

更新日期：2002-07-01 00:00:00

abstract：:A crucial step beyond the identification of genetic linkage of a disease to a chromosomal region is the production of a physical map that will allow the identification of candidate genes. Although the process of physical map building has been facilitated by the flow of data released by the Human Genome Project, gather...

journal_title：Annals of human genetics

authors： Le Hellard S,Semple CA,Morris SW,Porteous DJ,Evans KL

更新日期：2001-05-01 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：:Using the Succession Rule of Laplace (1795) and related reasoning, this paper shows how to give unbiased counselling to patients when predictions are to be based on small samples. The recombination fraction can be regarded as a probability parameter, theta, which itself has a probability distribution between the limit...

journal_title：Annals of human genetics

authors： Renwick JH

更新日期：1990-10-01 00:00:00

abstract：:The objective of this study was to evaluate whether an increased hazard of developing ischemic heart disease (IHD) is associated with any of the three genotypes A560T832/A560T832, A560T832/A560G832 and A560T832/T560T832, defined by variations in two non-coding SNPs in the 5' promoter region of the apolipoprotein E (AP...

journal_title：Annals of human genetics

authors： Stengård JH,Frikke-Schmidt R,Tybjaerg-Hansen A,Nordestgaard BG,Sing CF

更新日期：2007-11-01 00:00:00

abstract：:Exact probability and likelihood computation on complex pedigrees is often infeasible, since exact methods are too computationally intensive even with today's computing technology. A statistical tool, Markov chain Monte Carlo (MCMC), is increasingly being explored as a technique for estimating probabilities of genotyp...

journal_title：Annals of human genetics

authors： Lin S,Thompson E,Wijsman E

更新日期：1994-10-01 00:00:00

abstract：:Robertsonian translocation (RT) is a common cause for male infertility, recurrent pregnancy loss, and birth defects. Studying meiotic recombination in RT-carrier patients helps decipher the mechanism and improve the clinical management of infertility and birth defects caused by RT. Here we present a new method to stud...

journal_title：Annals of human genetics

authors： Sha Y,Sha Y,Ji Z,Ding L,Zhang Q,Ouyang H,Lin S,Wang X,Shao L,Shi C,Li P,Song Y

更新日期：2017-03-01 00:00:00

abstract：:Two popular and robust approaches to analysing affected sib pair (ASP) data for linkage are the traditional excess sharing methods and the transmission/disequilibrium test (TDT). Here we derive an overall test of linkage for multi-allelic ASP marker data which comprises two component tests: one for excess sharing and ...

journal_title：Annals of human genetics

authors： Wicks J,Wilson SR

更新日期：2000-09-01 00:00:00

abstract：:Acromesomelic dysplasia Maroteaux type (AMDM) is an autosomal recessive skeletal disorder characterized by disproportionate short stature with shortening of the acromesomelic sections of the limbs. AMDM is caused by mutations in the NPR2 gene located on chromosome 9p21-p12. The gene encodes the natriuretic peptide rec...

journal_title：Annals of human genetics

authors： Irfanullah,Umair M,Khan S,Ahmad W

更新日期：2015-07-01 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：:Uterine fibroids (UFs) are the most common benign neoplasms, but their pathogenesis is not completely understood. Thus far, alterations in the mitochondrial DNA (mtDNA) content and the mtDNA 4977-bp deletion level in UFs, as well as the corresponding nontumorous tissue, have remained elusive. To test whether large mtD...

journal_title：Annals of human genetics

authors： Luo Y,Zou Y,Wu J,Zhang ZY,Liu FY,Li LP,Huang OP

更新日期：2019-07-01 00:00:00

abstract：:A founder haplotype on chromosome 2p for autosomal dominant Parkinson's disease (PD) has been postulated for two families of Northern European descent, and a new mutation in the alpha-synuclein gene (Ala30Pro) has been found in a German PD family. We evaluated 85 German PD patients and 85 ethnically matched controls f...

journal_title：Annals of human genetics

authors： Klein C,Vieregge P,Hagenah J,Sieberer M,Doyle E,Jacobs H,Gasser T,Breakefield XO,Risch NJ,Ozelius LJ

更新日期：1999-07-01 00:00:00

abstract：:Case-parent triad data are considered a robust basis for studying association between variants of a gene and a disease. Methods evaluating statistical significance of association, like the TDT-test and its extensions, are frequently used. When there are prior hypotheses of a causal effect of the gene under study, howe...

journal_title：Annals of human genetics

authors： Gjessing HK,Lie RT

更新日期：2006-05-01 00:00:00

abstract：:Williams-Beuren syndrome (WBS) is a chromosomal microdeletion syndrome with variable phenotypic features such as supravalvular aortic stenosis (SVAS), facial appearance characteristics, growth retardation, and infantile hypercalcemia. This study aimed to detect the 7q11.23 microdeletion in 10 patients with early clini...

journal_title：Annals of human genetics

authors： Ghaffari M,Tahmasebi Birgani M,Kariminejad R,Saberi A

更新日期：2018-11-01 00:00:00

abstract：:Inbreeding patterns over the past two centuries have been studied more extensively in Spain and Italy than anywhere else in Europe. Consanguinity studies in mainland Spain have shown that populations settled along the Cantabrian cornice share inbreeding patterns that distinguish them from other populations further sou...

journal_title：Annals of human genetics

authors： Calderón R,Aresti U,Ambrosio B,González-Martín A

更新日期：2009-03-01 00:00:00

abstract：:Complex segregation analysis was conducted in a series of patients with hereditary non-polyposis colorectal cancer (HNPCC) ascertained through probands registered in the Cancer Registry of the Health Care District of Modena in Northern Italy. Altogether there were 71 nuclear families segregating for HNPCC in 28 pedigr...

journal_title：Annals of human genetics

authors： Scapoli C,Ponz De Leon M,Sassatelli R,Benatti P,Roncucci L,Collins A,Morton NE,Barrai I

更新日期：1994-07-01 00:00:00

abstract：:Stress is a significant risk factor in the development of drug addictions and in addiction relapse susceptibility. This hypothesis-driven study was designed to determine if specific SNPs in genes related to stress response are associated with heroin and/or cocaine addiction in African Americans. The analysis included ...

journal_title：Annals of human genetics

authors： Levran O,Randesi M,Li Y,Rotrosen J,Ott J,Adelson M,Kreek MJ

更新日期：2014-07-01 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：:An isoelectric focusing method for human GDH is described which reveals seven GDH phenotypes. Family studies demonstrate that the variation is genetically determined by three alleles at an autosomal locus with gene frequencies GDH1 = 0.723, GDH2 = 0.194, GDH3 = 0.083. Linkage analysis shows that GDH may be closely lin...

journal_title：Annals of human genetics

authors： King J,Cook PJ

更新日期：1981-05-01 00:00:00

abstract：:Risch and Zhang recently proposed to use extreme discordant sib pairs for mapping quantitative trait loci. Here, it is shown that the set of genetically possible distributions of the number of marker alleles in such sib-pairs is described by two inequalities. Thus, a likelihood ratio test analogous to Holmans's possib...

journal_title：Annals of human genetics

authors： Knapp M

更新日期：1998-01-01 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 index of opportunity for selection proposed by Crow has been calculated for the Italian population during the last century. The evolution of its two components, the pre-reproductive mortality and the variance in fertility, has been also analysed and compared with similar data for the United States. The results cle...

journal_title：Annals of human genetics

authors： Terrenato L,Ulizzi L,San Martini A

更新日期：1979-01-01 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：: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：:The routine performance of high-altitude (HA) natives in the hypoxic environment of HA exemplifies the process of adaptation mainly through natural selection. The recent therapeutic application of nitric oxide (NO) in HA disorders, for the improvement of oxygenation and vasodilation, ushered us to investigate the endo...

journal_title：Annals of human genetics

authors： Ahsan A,Norboo T,Baig MA,Qadar Pasha MA

更新日期：2005-05-01 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：:Gene-gene interaction plays an important role in association studies for complex diseases. There have been different approaches to incorporating gene-gene interactions in candidate gene or genome-wide association studies, especially for those genes with no marginal effects but with interaction effects. However, there ...

journal_title：Annals of human genetics

authors： Yang Y,He C,Ott J

更新日期：2009-01-01 00:00:00