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用于法医鉴定的DNA指纹识别:亚群体异质性和条带数量变异性对数据解读的潜在影响。

DNA fingerprinting for forensic identification: potential effects on data interpretation of subpopulation heterogeneity and band number variability.

作者信息

Cohen J E

机构信息

Rockefeller University, New York, NY 10021-6399.

出版信息

Am J Hum Genet. 1990 Feb;46(2):358-68.

PMID:2301401
原文链接:https://pmc.ncbi.nlm.nih.gov/articles/PMC1684977/
Abstract

Some methods of statistical analysis of data on DNA fingerprinting suffer serious weaknesses. Unlinked Mendelizing loci that are at linkage equilibrium in subpopulations may be statistically associated, not statistically independent, in the population as a whole if there is heterogeneity in gene frequencies between subpopulations. In the populations where DNA fingerprinting is used for forensic applications, the assumption that DNA fragments occur statistically independently for different probes, different loci, or different fragment size classes lacks supporting data so far; there is some contrary evidence. Statistical association of alleles may cause estimates based on the assumption of statistical independence to understate the true matching probabilities by many orders of magnitude. The assumptions that DNA fragments occur independently and with constant frequency within a size class appear to be contradicted by the available data on the mean and variance of the number of fragments per person. The mistaken use of the geometric mean instead of the arithmetic mean to compute the probability that every DNA fragment of a randomly chosen person is present among the DNA fragments of a specimen may substantially understate the probability of a match between blots, even if other assumptions involved in the calculations are taken as correct. The conclusion is that some astronomically small probabilities of matching by chance, which have been claimed in forensic applications of DNA fingerprinting, presently lack substantial empirical and theoretical support.

摘要

一些用于DNA指纹数据统计分析的方法存在严重缺陷。如果亚群体之间基因频率存在异质性,那么在亚群体中处于连锁平衡的不连锁孟德尔位点在整个群体中可能存在统计学关联,而非统计学独立。在将DNA指纹用于法医鉴定的群体中,关于不同探针、不同位点或不同片段大小类别的DNA片段在统计上独立出现的假设,目前缺乏支持数据;反而有一些相反的证据。等位基因的统计学关联可能导致基于统计独立性假设的估计将真实匹配概率低估许多个数量级。关于DNA片段在一个大小类别内独立且以恒定频率出现的假设,似乎与每人片段数的均值和方差的现有数据相矛盾。在计算随机选择个体的每个DNA片段都存在于样本的DNA片段中的概率时,错误地使用几何均值而非算术均值,可能会大幅低估印迹之间匹配的概率,即使计算中涉及的其他假设被认为是正确的。结论是,DNA指纹法医鉴定应用中所声称的一些极小的偶然匹配概率,目前缺乏充分的实证和理论支持。

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