通过系谱对亲属对进行血缘共享身份的概率测定。
The probabilistic determination of identity-by-descent sharing for pairs of relatives from pedigrees.
作者信息
Amos C I, Dawson D V, Elston R C
机构信息
Family Studies Section, National Cancer Institute, Bethesda, MD 20892.
出版信息
Am J Hum Genet. 1990 Nov;47(5):842-53.
Abstract
Methods for detecting genetic linkage are more powerful when they fully use all of the data collected from pedigrees. We first discuss a method for obtaining the probability that a pedigree member has a given genotype, conditional on the phenotypes of his relatives. We then develop a rapid method to obtain the conditional probabilities of identity-by-descent sharing of marker alleles for all related pairs of individuals from extended pedigrees. The method assumes that the individuals are noninbred and that the relationship between genotype and phenotype is known for the marker locus studied. The probabilities of identity-by-descent sharing among relative pairs, conditional on marker phenotype information, can then be used in any of the model free tests for linkage between a trait locus and a marker locus.
摘要
当能充分利用从家系收集的所有数据时，检测基因连锁的方法会更有效。我们首先讨论一种方法，该方法用于获得家系成员具有特定基因型的概率，此概率以其亲属的表型为条件。然后，我们开发了一种快速方法，用于从扩展家系中所有相关个体对获得标记等位基因通过血缘共享的条件概率。该方法假设个体是非近亲繁殖的，并且对于所研究的标记位点，基因型与表型之间的关系是已知的。然后，基于标记表型信息的相对个体对之间通过血缘共享的概率，可用于性状位点与标记位点之间连锁的任何无模型检验。
相似文献
1
The probabilistic determination of identity-by-descent sharing for pairs of relatives from pedigrees.通过系谱对亲属对进行血缘共享身份的概率测定。
Am J Hum Genet. 1990 Nov;47(5):842-53.
2
Nonparametric simulation-based statistics for detecting linkage in general pedigrees.基于非参数模拟的统计方法用于检测一般系谱中的连锁关系。
Am J Hum Genet. 1996 Apr;58(4):867-80.
3
Identity-by-descent estimation and mapping of qualitative traits in large, complex pedigrees.大型复杂家系中基于血缘同一性的定性性状估计与定位
Genetics. 2008 Jul;179(3):1577-90. doi: 10.1534/genetics.108.089912. Epub 2008 Jul 13.
4
Prediction of identity by descent probabilities from marker-haplotypes.基于标记单倍型的同源概率进行身份预测。
Genet Sel Evol. 2001 Nov-Dec;33(6):605-34. doi: 10.1186/1297-9686-33-6-605.
5
Multipoint quantitative-trait linkage analysis in general pedigrees.一般家系中的多点数量性状连锁分析。
Am J Hum Genet. 1998 May;62(5):1198-211. doi: 10.1086/301844.
6
Linkage analysis in the presence of errors IV: joint pseudomarker analysis of linkage and/or linkage disequilibrium on a mixture of pedigrees and singletons when the mode of inheritance cannot be accurately specified.存在错误情况下的连锁分析IV：当遗传模式无法准确确定时，对家系和单病例混合样本进行连锁和/或连锁不平衡的联合伪标记分析
Am J Hum Genet. 2000 Apr;66(4):1310-27. doi: 10.1086/302845. Epub 2000 Mar 23.
7
Linkage study in families with posterior helical ear pits and Wiedemann-Beckwith syndrome.伴有耳后螺旋状耳凹和威德曼-贝克威思综合征的家族连锁研究。
Am J Med Genet. 2001 Nov 22;104(2):120-6. doi: 10.1002/ajmg.1587.
8
Using risk calculation to implement an extended relative pair analysis.使用风险计算来实施扩展的相对配对分析。
Ann Hum Genet. 1994 May;58(2):151-62. doi: 10.1111/j.1469-1809.1994.tb01884.x.
9
Genome sharing in large pedigrees: multiple imputation of ibd for linkage detection.
Hum Hered. 2003;56(1-3):119-25. doi: 10.1159/000073739.
10
Exact trait-model-free tests for linkage detection in pedigrees.用于家系连锁检测的精确无性状模型检验。
Ann Hum Genet. 2008 Sep;72(Pt 5):676-82. doi: 10.1111/j.1469-1809.2008.00451.x. Epub 2008 May 28.
引用本文的文献
1
Linkage analysis in the next-generation sequencing era.下一代测序时代的连锁分析。
Hum Hered. 2011;72(4):228-36. doi: 10.1159/000334381. Epub 2011 Dec 23.
2
Genome-wide evaluation for quantitative trait loci under the variance component model.基于方差成分模型的数量性状基因座全基因组评估。
Genetica. 2010 Oct;138(9-10):1099-109. doi: 10.1007/s10709-010-9497-1. Epub 2010 Sep 12.
3
Homozygosity haplotype allows a genomewide search for the autosomal segments shared among patients.纯合单倍型允许在全基因组范围内搜索患者之间共享的常染色体片段。
Am J Hum Genet. 2007 Jun;80(6):1090-102. doi: 10.1086/518176. Epub 2007 May 2.
4
A quantitative linkage score for an association study following a linkage analysis.连锁分析后用于关联研究的定量连锁分数。
BMC Genet. 2006 Jan 20;7:5. doi: 10.1186/1471-2156-7-5.
5
Mapping loci influencing blood pressure in the Framingham pedigrees using model-free LOD score analysis of a quantitative trait.利用数量性状的无模型LOD评分分析，在弗雷明汉姆家系中定位影响血压的基因座。
BMC Genet. 2003 Dec 31;4 Suppl 1(Suppl 1):S74. doi: 10.1186/1471-2156-4-S1-S74.
6
Multipoint quantitative-trait linkage analysis in general pedigrees.一般家系中的多点数量性状连锁分析。
Am J Hum Genet. 1998 May;62(5):1198-211. doi: 10.1086/301844.
7
Nonparametric simulation-based statistics for detecting linkage in general pedigrees.基于非参数模拟的统计方法用于检测一般系谱中的连锁关系。
Am J Hum Genet. 1996 Apr;58(4):867-80.
8
Gametogenesis processes and multilocus gene identity by descent.配子发生过程与多位点基因同源性。
Am J Hum Genet. 1996 Feb;58(2):408-19.
9
Genotype relative risks: methods for design and analysis of candidate-gene association studies.基因型相对风险：候选基因关联研究的设计与分析方法
Am J Hum Genet. 1993 Nov;53(5):1114-26.
10
Robust variance-components approach for assessing genetic linkage in pedigrees.用于评估家系中基因连锁的稳健方差成分法。
Am J Hum Genet. 1994 Mar;54(3):535-43.
本文引用的文献
1
HLA and disease: predictions for HLA haplotype sharing in families.人类白细胞抗原与疾病：家庭中人类白细胞抗原单倍型共享的预测
Am J Hum Genet. 1981 Sep;33(5):776-84.
2
Power of the affected-sib-pair method to defect disease susceptibility loci of small effect: an application to multiple sclerosis.患病同胞对法检测小效应疾病易感性位点的效能：在多发性硬化症中的应用
Am J Med Genet. 1982 Jul;12(3):309-26. doi: 10.1002/ajmg.1320120309.
3
A polymorphic DNA marker genetically linked to Huntington's disease.一种与亨廷顿舞蹈症基因连锁的多态性DNA标记。
Nature. 1983;306(5940):234-8. doi: 10.1038/306234a0.
4
[The concept of identity and its importance in genetics].
Ann Genet. 1966 Jun;9(2):58-65.
5
A general model for the genetic analysis of pedigree data.家系数据遗传分析的通用模型。
Hum Hered. 1971;21(6):523-42. doi: 10.1159/000152448.
6
The investigation of linkage between a quantitative trait and a marker locus.数量性状与标记位点之间的连锁研究。
Behav Genet. 1972 Mar;2(1):3-19. doi: 10.1007/BF01066731.
7
Tight linkage of apolipoprotein C2 to myotonic dystrophy on chromosome 19.载脂蛋白C2与19号染色体上的强直性肌营养不良紧密连锁。
Neurology. 1986 Nov;36(11):1418-23. doi: 10.1212/wnl.36.11.1418.
8
The affected sib-pair method using identity by state relations.使用状态一致性关系的受累同胞对法。
Am J Hum Genet. 1986 Jul;39(1):148-50.
9
The affected-pedigree-member method of linkage analysis.连锁分析的受累家系成员法。
Am J Hum Genet. 1988 Feb;42(2):315-26.
10
The power of identity-by-state methods for linkage analysis.状态一致性方法在连锁分析中的效能。
Am J Hum Genet. 1990 Feb;46(2):254-65.
Zotero 插件