海南人群23个常染色体STR位点突变分析

Wei-hua Xu, N. Yao, Xiaojuan Li, Zhichao Ma, Hongtao Zhou, S. Fu, Xin-ping Chen
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引用次数: 1

摘要

[目的]分析海南地区23例亲子鉴定病例常染色体STR位点的突变特征及规律。【方法】收集我院法医鉴定中心2017 - 2020年来自海南省各县市受理的2715例亲子鉴定病例,选取含有基因突变的病例,统计各位点的突变率及细节,分析23个STR位点的突变规律。[结果]在2715例“支持”病例中,三联体病例1487例,双联体病例1640例,共4614例;共有50个基因突变事件(其中三联体突变17个,二联体突变33个),平均突变率为0.0047%,累积突变率为1.0837%。23个STR位点中有19个发生突变,其中D12S391位点的突变率为0.1301%,TPOX、D1S1656、D2S441、D22S1045和PentaD位点的突变率为0.0217%,D19S433、TH01、D13S317和D7S820位点未发现突变事件。
本文章由计算机程序翻译,如有差异,请以英文原文为准。
Mutation Analysis of STR Locus on 23 Autosomes in Hainan Population
[Objective] To analyze the mutation signature and regularity of STR locus on 23 autosomes in paternity testing cases in Hainan. [Methods] A total of 2715 paternity testing cases accepted by the Forensic Medical Identification Centre of our hospital from 2017 to 2020 derived from counties and cities in Hainan Province were collected, the cases containing gene mutations were selected, the mutation rate and details of each locus were counted, and the mutation regularity of 23 STR loci was analyzed. [Results] Of the 2715 cases identified as “support”, 1487 were triplet cases and 1640 were dyad cases, totaling 4614 meioses; There were 50 gene mutation events (including 17 triplet mutations and 33 dyad mutations), with an average mutation rate of 0.0047% and a cumulative mutation rate of 1.0837%. A total of 19 of the 23 STR loci were mutated, with a mutation rate of 0.1301% at the D12S391 locus and 0.0217% at five loci, TPOX, D1S1656, D2S441, D22S1045, and PentaD, while no mutation events were found at four loci, D19S433, TH01, D13S317, and D7S820.
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