浙江温州汉族人群D6S474等十八个短串联重复序列基因座的遗传多态性

Genetic polymorphism of eighteen short tandem repeat loci in Wenzhou, Zhejiang Han population

目的研究并分析来自浙江温州地区汉族人群的18个STR基因座(包括D6S474、D12ATA63、D22S1045、D1S1677、D11S4463、D1S1627、D3S4529、D6S1017、D4S2408、D17S1301、D1GATA113、D18S853、D20S482、D14S1434、D9S1122、D2S1776、D10S1435、D5S2500)的等位基因和基因型频率。方法从无血缘关系的555名温州汉族个体的末梢血中提取DNA,采用AGCU_EX21+1_STR_3.0人类荧光标记STR复合扩增检测试剂对18个STR基因座进行PCR复合扩增,用AB公司的3500型遗传分析仪和GeneMapperID-X1.4软件检测每个样本基因座的等位基因型,并进行Hardy-Weingberg平衡检验,用PowerState V12.xls分析软件对各个STR基因座的各等位基因的频率及法医学常用参数进行统计分析。结果各基因座的基因型采用正合检验,除D12ATA63、D3S4529、D17S1301、D9S1122及D10S14355基因座外,其余基因座均符合Hardy-Weinberg平衡定律。杂合度在0.5586~0.8054,匹配概率在0.0911~0.2102,单一STR基因座的个体识别力在0.7898~0.9089,多态信息含量在0.5497~0.7293,非父排除率在0.3223~0.6091。结论浙江温州汉族人群的这18个非CODIS系统基因座均具有较高的遗传多态性,联合应用其他基因座能有效解决二联体亲权鉴定中的大部分突变案例。

Objective To investigate the alleles and genotype frequencies of eighteen short tandem repeats loci, those are D6S474、D12ATA63、D22S1045、D1S1677、D11S4463、D1S1627、D3S4529、D6S1017、D4S2408、D17S1301、D1GATA113、D18S853、D20S482、D14S1434、D9S1122、D2S1776、D10S1435、D5S2500 of Han Population in Wenzhou,Zhejiang. Methods Extract DNA respectively from peripheral blood of 555 unrelated individual samples of Han population living in Wenzhou. Deal the eighteen STR loci of the samples with multiple PCR amplification by AGCU_EX21+1_STR_3.0 kit. Analyze the PCR products by 3500 genetic analyzer and GeneMapper ID-X 1.4 software of AB company. Verify the results by Hardy-Weingberg equilibrium. Deal the results with statistical analysis on the allele frequency and common forensic parameters by PowerState V12.xls software. Results All loci in Wenzhou Han population in meet the Hardy-Weinberg equilibrium expectation except 5 loci(including D12ATA63, D3S4529, D17S1301, D9S1122 and D10S1435), The Heterozygosity are between 0.5586 and 0.8054, Matching probability are between 0.0911 and 0.2102, Discrimination power of single STR loci are between 0.7898 and 0.9089, Polymorphism information content are between 0.5497 and 0.7293,Probability of exclusion chance are between 0.3223 and 0.6091. Conclusion All of the eighteen STR loci, those are Non CODIS system loci of Han Population in Wenzhou in this study have high genetic Polymorphism, and it can be used with other loci as effective solution in most duo-paternity testing with inconsistent-loci.