[日本人群中Hardy-Weinberg平衡的检验]。

Y Katsumata, M Mizutani, H Nozawa, R Uchihi, T Yamamoto, K Tamaki
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引用次数: 0

摘要

在群体遗传学中,当对某个DNA标记进行群体研究,以证明观察到的等位基因频率代表整个群体的等位基因频率时,通常会测试是否偏离Hardy-Weinberg平衡(HWE)。假设chi 2近似的拟合优度检验(chi 2检验)经常用于具有少量等位基因的经典血型标记。然而,近年来出现了适合于具有多等位基因的DNA标记的新检测方法,如纯合子检验、似然比检验和Guo-Thompson’s (G-T’)精确检验。在本研究中,利用具有9个不同短串联重复位点的206名日本人的种群数据,研究了适当的HWE检测方法。首先,我们发现NRC II关于罕见等位基因频率处理的建议(如果数据库中的一个bin包含少于5个条目,则将其与相邻的bin合并,以便每个bin都不少于5个)对于法医学中的个人识别是非常合理的。其次,我们提出纯合性检验、似然比检验和G-T精确检验应同时应用,只有当三个检验都通过时,样本总体的HWE才有效。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
[Tests for Hardy-Weinberg equilibrium in Japanese population].

In population genetics, the absence of the departure from Hardy-Weinberg equilibrium (HWE) is usually tested when a population study of a certain DNA marker is performed to show the observed allele frequencies represent those of the whole population. The goodness-of-fit test (chi 2 test) assuming chi 2 approximation has frequently been used with classical blood type markers having a few alleles. However, new tests suitable for DNA markers having many alleles, such as homozygosity test, likelihood ratio test and Guo-Thompson's (G-T') exact test, have recently been devised. In the present study, appropriate tests for HWE was studied using population data of 206 Japanese individuals with 9 different short tandem repeat loci. Firstly, we found that the recommendation of NRC II for the treatment of rare allele frequencies (If a bin in the database contains fewer than five entries, it is pooled with adjacent bins so that no bin has fewer than five) is quite reasonable for personal identification in forensic sciences. Secondly, we proposed that homozygosity test, likelihood ratio test and G-T's exact test should be applied altogether and HWE of the sample population should be valid only when all of the three tests were cleared.

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