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定义为固定区间的可变数目串联重复序列(VNTR)等位基因的独立性。

Independence of VNTR alleles defined as fixed bins.

作者信息

Weir B S

机构信息

Department of Statistics, North Carolina State University, Raleigh 27695-8203.

出版信息

Genetics. 1992 Apr;130(4):873-87. doi: 10.1093/genetics/130.4.873.

Abstract

An analysis is presented of data collected by the Federal Bureau of Investigation at six unlinked variable number of tandem repeats (VNTR) loci for the United States population. Databases have been constructed of VNTR profiles of Caucasians, Blacks and Hispanics from Florida, Texas and California. There was very little evidence for correlations between lengths for pairs of VNTR fragments, within or between loci. When the fragment lengths were amalgamated into discrete bins, there was also little evidence for disequilibrium over all genotypes, within or between loci, for the Caucasian database, although some disequilibrium was found for the Black and Hispanic databases. No disequilibrium was found for the Caucasian or Black databases when tests were confined to heterozygous individuals. In cases of global disequilibrium, local tests can be applied to specific genotypes. The results suggest that, at the bin level, frequencies of VNTR profiles can generally be estimated as the products of the frequencies of the constituent elements. This overcomes the problem of estimating population frequencies when any particular profile does not exist in the database. There is some evidence for different frequencies, at the individual bin level, between geographic samples within each of the Caucasian, Black and Hispanic databases, and considerable evidence for differences between the three databases. These differences are less evident for the frequencies of four-locus profiles.

摘要

本文对美国联邦调查局收集的关于美国人群六个不连锁串联重复序列(VNTR)位点的数据进行了分析。已构建了来自佛罗里达州、得克萨斯州和加利福尼亚州的白种人、黑人和西班牙裔的VNTR图谱数据库。几乎没有证据表明在基因座内或基因座间VNTR片段对的长度之间存在相关性。当将片段长度合并为离散区间时,对于白种人数据库,在所有基因型上,无论在基因座内还是基因座间,也几乎没有不平衡的证据,尽管在黑人和西班牙裔数据库中发现了一些不平衡。当测试仅限于杂合个体时,在白种人或黑人数据库中未发现不平衡。在存在全局不平衡的情况下,可以对特定基因型应用局部测试。结果表明,在区间水平上,VNTR图谱的频率通常可以估计为组成元素频率的乘积。这克服了数据库中不存在任何特定图谱时估计群体频率的问题。有一些证据表明,在白种人、黑人和西班牙裔数据库中,每个数据库内不同地理样本在单个区间水平上的频率存在差异,并且有大量证据表明三个数据库之间存在差异。对于四基因座图谱的频率,这些差异不太明显。

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