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[考虑突变的亲子鉴定研究]

[A study of paternity testing with considering mutation].

作者信息

Hou Yi-ping, Wu Jin, Hou Jia-yi, Yan Jin, Li Ying-bi, Gao Shuang, Sun Xiao-ming, Luo Hai-bo

机构信息

Department of Forensic Genetics, West China School of Preclinical and Forensic Medicine, Sichuan University, Chengdu, Sichuan, 610041 P. R. China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Aug;24(4):417-21.

Abstract

OBJECTIVE

To formulate recommendations in the evaluation of results of genetic analyses in paternity testing under considering mutations.

METHODS

A total of 15 short tandem repeat(STR) loci were employed for this study, which were included CSF1PO, FGA, TH01, TPOX, VWA, D3S1358, D5S818, D7S820, D8S1179, D13S317, D16S539, D18S51, D21S11, PentaD and PentaE. Both 100 cases of true trio and 100 cases of false trio were investigated.

RESULTS

The numbers of mismatch alleles in different STR loci were observed in 100 cases of false trio. The different distributions of paternity index were obtained, including the changes of paternity index in each case of true trio under simulated mutations.

CONCLUSION

In order to avoid the effect of mutations, the exclusion of paternity was never considered on the basis of a single locus. The threshold values of the combined probability of exclusion and the paternity index were important for both exclusion and inclusion of paternity. The scientific evidence for paternity testing can be obtained when both the combined probability of exclusion and the paternity index meet the threshold values. However, when either the combined probability of exclusion or the paternity index can not meet the threshold values, more genetic markers should be added.

摘要

目的

制定在考虑突变情况下亲子鉴定中基因分析结果评估的建议。

方法

本研究共采用15个短串联重复序列(STR)基因座,包括CSF1PO、FGA、TH01、TPOX、VWA、D3S1358、D5S818、D7S820、D8S1179、D13S31,7、D16S539、D18S51、D21S11、五核苷酸D和五核苷酸E。对100例真实三联体和100例虚假三联体进行了调查。

结果

在100例虚假三联体中观察到不同STR基因座中错配等位基因的数量。获得了不同的父权指数分布,包括模拟突变下每例真实三联体中父权指数的变化。

结论

为避免突变的影响,绝不能仅基于单个基因座考虑排除父权。排除概率和父权指数的阈值对于排除和认定父权都很重要。当排除概率和父权指数都达到阈值时,可获得亲子鉴定的科学证据。然而,当排除概率或父权指数不能达到阈值时,应增加更多的遗传标记。

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