Estimation of heterozygosity for single-probe multilocus DNA fingerprints.
Estimation of heterozygosity for single-probe multilocus DNA fingerprints.
复制标题
单探针多位点 DNA 指纹杂合性的估计。
DOI：
10.1093/oxfordjournals.molbev.a040755
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发表时间：
1992
影响因子：
10.7
通讯作者：
O'Brien,SJ
中科院分区：
文献类型：
--
作者：
Stephens,JC;Gilbert,DA;Yuhki,N;O'Brien,SJ
尽管DNA指纹技术越来越多地应用于自然种群和人类的遗传鉴定，但还没有开发出从DNA指纹数据中估计基本种群遗传参数的显式方法。造成这一遗漏的一个原因是，对于多位点指纹探针，无法确定相对重要的遗传信息，如基因座的数量、等位基因的数量以及这些等位基因在特定基因座的分布。从这些数据中可以得出的最有用的遗传参数之一是平均杂合度，它传统上被用来衡量种群内的遗传变异水平，并比较不同基因座之间的遗传变异。我们在这里推导出了多个高变量座位的平均杂合度估计和该估计的最大值的显式公式。这些估计是基于人类和自然种群指纹研究中典型的DNA限制模式矩阵。对于我们实验室的几个经验数据集，平均杂合度和最大杂合度的估计彼此相对接近。此外，基于模拟研究的这些统计数据的方差相对较小。这些观察，以及对缺失等位基因和基因座交替数量的影响的考虑，表明可以使用表型DNA指纹模式准确地估计平均杂合度，因为这个参数对某些遗传信息的缺乏相对不敏感。
In spite of the increasing application of DNA fingerprinting to natural populations and to the genetic identification of humans, explicit methods for estimation of basic population genetic parameters from DNA fingerprinting data have not been developed. Contributing to this omission is the inability to determine, for multilocus fingerprinting probes, relatively important genetic information, such as the number of loci, the number of alleles, and the distribution of these alleles into specific loci. One of the most useful genetic parameters that could be derived from such data would be the average heterozygosity, which has traditionally been employed to measure the level of genetic variation within populations and to compare genetic variation among different loci. We derive here explicit formulas for both the estimation of average heterozygosity at multiple hypervariable loci and a maximum value for this estimate. These estimates are based upon the DNA restriction-pattern matrices that are typical for fingerprinting studies of humans and natural populations. For several empirical data sets from our laboratory, estimates of average and maximal heterozygosity are shown to be relatively close to each other. Furthermore, variances of these statistics based on simulation studies are relatively small. These observations, as well as consideration of the effect of missing alleles and alternate numbers of loci, suggest that the average heterozygosity can be accurately estimated using phenotypic DNA fingerprint patterns, because this parameter is relatively insensitive to the lack of certain genetic information.