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 between 0 and 0.5 and the test is based on the maximum value of the lod score Zmax. The impact of this deviation of the test on the probability that in fact linkage does not exist, when linkage was concluded, is documented here. This posterior probability of no linkage can be derived by using Bayes' theorem. It is less than 5% when the lod score at a predetermined theta 1 is used for the test. But, for a Zmax of +3, we showed that it can reach 16.4%. Thus, considering a composite alternative hypothesis instead of a single one decreases the reliability of the test. The reliability decreases rapidly when Zmax is less than +3. Given a Zmax of +2.5, there is a 33% chance that linkage does not exist. Moreover, the posterior probability depends not only on the value of Zmax but also jointly on the family structures and on the genetic model. For a given Zmax, the chance that linkage exists may then vary.
journal_name
Ann Hum Genetjournal_title
Annals of human geneticsauthors
Génin E,Martinez M,Clerget-Darpoux Fdoi
10.1111/j.1469-1809.1995.tb01610.xsubject
Has Abstractpub_date
1995-01-01 00:00:00pages
123-32issue
1eissn
0003-4800issn
1469-1809journal_volume
59pub_type
杂志文章abstract:BACKGROUND:The association between interleukin-10 (IL-10)-1082 (-1087) A > G polymorphism and either chronic (CP) or aggressive periodontitis (AgP) susceptibility was conflicting. This meta-analysis aimed to quantitatively estimate the association. METHODS:Pubmed, Embase, Web of Science, and WANFAN databases were sear...
journal_title:Annals of human genetics
pub_type: 杂志文章,meta分析
doi:10.1111/ahg.12321
更新日期:2019-09-01 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
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1990.tb00373.x
更新日期:1990-05-01 00:00:00
abstract::Multiple imputation based on chained equations (MICE) is an alternative missing genotype method that can use genetic and nongenetic auxiliary data to inform the imputation process. Previously, MICE was successfully tested on strongly linked genetic data. We have now tested it on data of the HBA2 gene which, by the exp...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12065
更新日期:2014-07-01 00:00:00
abstract::We have used the HLA-DQB1 gene as a Southern hybridization probe with TaqI-digested genomic DNA in a study of 600 haplotypes from unrelated individuals and have characterized HLA-DQB1 RFLP patterns associated with the DR specificities DR1-DRw10 and DN1. For six of the specificities (DR2, 4, w6, 7, w8 and 9), we have a...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1989.tb01802.x
更新日期:1989-10-01 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
pub_type: 杂志文章
doi:10.1017/S0003480000007946
更新日期:2000-01-01 00:00:00
abstract::Interaction between genetic variants is hypothesized to be one of several putative explanations for the 'case of missing heritability.' Therefore, Genome-Wide Interaction Analysis (GWIA) has recently gained substantial interest. GWIA is computationally challenging and respective power type I error studies are particul...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2010.00610.x
更新日期:2011-01-01 00:00:00
abstract::Statistical methods are developed for tracing quantitative measurements on human chromosomes from parents to offspring. Tests for transmission are briefly considered. ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1977.tb01963.x
更新日期:1977-07-01 00:00:00
abstract::A study has been made of 36 body and 11 craniofacial measurements in a selected sample of 251 Bulgarian families, comprising parents and their children over 15 years. The mid parent-offspring and correlation coefficients indicate that the extent of genetic determination varies considerably from one measurement to anot...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1996.tb01618.x
更新日期:1996-11-01 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
pub_type: 杂志文章,meta分析
doi:10.1111/ahg.12016
更新日期:2013-05-01 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
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1990.tb00388.x
更新日期:1990-10-01 00:00:00
abstract::Families segregating for PEPD have been investigated for linkage between PEPD and CYP1. The results provide evidence for close linkage between PEPD and CYP1 in males. ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1987.tb00862.x
更新日期:1987-01-01 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
pub_type: 杂志文章,meta分析
doi:10.1111/ahg.12262
更新日期:2018-11-01 00:00:00
abstract::Previous analyses have provided evidence for one or more loci affecting body weight in the H19-IGF2-INS-TH region on chromosome 11p15. To identify the location of a possible causal locus or loci we applied association analysis by composite likelihood to a large cohort under the Malecot model for body weight. A random ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2006.00290.x
更新日期:2006-11-01 00:00:00
abstract::Published data on the association between the methylenetetrahydrofolate reductase (MTHFR) gene A1298C (rs1801131) polymorphism and male infertility risk are inconclusive. To derive a more precise estimation of the relationship, a meta-analysis was performed. In this meta-analysis, a total of seven case-control studies...
journal_title:Annals of human genetics
pub_type: 杂志文章,meta分析
doi:10.1111/j.1469-1809.2011.00691.x
更新日期:2012-01-01 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
pub_type: 杂志文章
doi:10.1046/j.1529-8817.2004.00129.x
更新日期:2005-01-01 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
pub_type: 杂志文章
doi:10.1046/j.1469-1809.1997.6160497.x
更新日期:1997-11-01 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
pub_type: 杂志文章
doi:10.1046/j.1529-8817.2003.00115.x
更新日期:2004-09-01 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
pub_type: 杂志文章
doi:10.1111/ahg.12064
更新日期:2014-07-01 00:00:00
abstract::In order to study the matrilineal genetic composition in Cabo Verde (Republic of Cape Verde), an archipelago that used to serve as a Portuguese entrepôt of the Atlantic slave trade, we have analysed a total of 292 mtDNAs sampled from the seven inhabited islands for the hypervariable segment I (HVS-I) and some characte...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1017/S0003480001001002
更新日期:2002-01-01 00:00:00
abstract:OBJECTIVE:Preeclampsia (PE) is a life-threatening complication of pregnancy that accounts for 12% of all maternal deaths worldwide. The aim of this study is to investigate the relationships between the polymorphisms of angiotensinogen (AGT) gene and preeclampsia. MATERIAL AND METHODS:In this study, 240 unrelated preec...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/ahg.12323
更新日期:2019-11-01 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
pub_type: 杂志文章
doi:10.1111/ahg.12033
更新日期:2013-09-01 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
pub_type: 杂志文章
doi:10.1046/j.1469-1809.2003.00024.x
更新日期:2003-03-01 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
pub_type:
doi:10.1111/j.1469-1809.2011.00659.x
更新日期:2011-07-01 00:00:00
abstract::The tissue distribution of the adenylate kinase isozymes in man has been examined using various substrates. The isozymes attributable to the AK1 and AK2 loci were identified, and an additional set of isozymes probably attributable to a third locus was also found. This locus has been provisionally designated AK3. The A...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1976.tb00134.x
更新日期:1976-01-01 00:00:00
abstract::Seven phage clones containing human sequences were picked at random from a human genomic library cloned in Charon 4A. The clones are devoid of repetitive sequences and can be used to recognize restriction fragment length polymorphisms (Feder et al. 1985). The chromosomal locations of the sequences defined by the seven...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1986.tb01033.x
更新日期:1986-05-01 00:00:00
abstract::The author proposes a method to test the genetic relation between two individuals using a panel of SNPs. The method does not require information about the allele frequencies, and as such it can be used to test any pair of individuals from any population(s). ...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1046/j.1529-8817.2003.00063.x
更新日期:2003-11-01 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
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2007.00361.x
更新日期:2007-09-01 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
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2006.00383.x
更新日期:2008-01-01 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
pub_type: 杂志文章
doi:10.1111/j.1469-1809.2009.00548.x
更新日期:2010-01-01 00:00:00
abstract::The proportion of hex S to hex C in normal and Sandhoff's fibroblasts was determined to be between 1:1 and 1:2 by differential staining of hex S at pH 4.4 with 4-methylumbelliferyl-beta-N-acetylgalactosaminide and of hex C at pH 7.0 with 4-methylumbelliferyl-beta-N-acetylglucosaminide. Hex S and hex C were also semi-q...
journal_title:Annals of human genetics
pub_type: 杂志文章
doi:10.1111/j.1469-1809.1977.tb01911.x
更新日期:1977-10-01 00:00:00