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中国南方汉族人群23个常染色体STR基因座的遗传参数评估。

Evaluation of genetic parameters of 23 autosomal STR loci in a Southern Chinese Han population.

作者信息

Li Hai-Xia, Peng Dan, Wang Ying, Wu Ri-Ga, Zhang Yin-Ming, Li Ran, Sun Hong-Yu

机构信息

a Faculty of Forensic Medicine, Zhongshan School of Medicine , Sun Yat-sen University , Guangzhou , PR China.

b Guangdong Province Translational Forensic Medicine Engineering Technology Research Center , Sun Yat-sen University , Guangzhou , PR China.

出版信息

Ann Hum Biol. 2018 Jun;45(4):359-364. doi: 10.1080/03014460.2018.1480731. Epub 2018 Sep 10.

Abstract

AIM

To evaluate the 23 autosomal short tandem repeat (STR) loci included in GoldenEye™ 25 A kit using forensic human identification and paternity testing.

SUBJECTS AND METHODS

In total, 3751 unrelated individuals from the Southern Chinese Han population were genotyped with the 5-dye GoldenEye™ 25 A multiplex amplification system. PCR products were separated using arrayed capillary electrophoresis. Allele frequencies and forensic parameters for the 23 autosomal STR loci were statistically analysed.

RESULTS

A total of 344 alleles were observed, with corresponding allelic frequencies ranging from 0.0001-0.5519 for the 23 STR loci. No significant deviation from the Hardy-Weinberg equilibrium and linkage disequilibrium was observed. The combined power of discrimination (CPD) was 1-1.6290 × 10 and the combined power of exclusion (CPE) was 0.999 999 999 89 and 0.999 999 286 93 for trio and duo cases, respectively. From 3865 meioses, 87 mutation events were discovered. The mutation rate varied from 0-0.00285 for each locus. One-step mutation accounted for 94.25% of total mutations. The ratio of paternal vs maternal mutation was 3.76:1.13 kinds of n/(n + 1) heterozygote genotypes were observed.

CONCLUSIONS

The results show that 23 STR loci of GoldenEye™ 25 A kit are highly polymorphic in the Southern Chinese Han population, indicating the kit is suitable for forensic application.

摘要

目的

使用法医人类身份鉴定和亲子鉴定评估包含在金睛25A试剂盒中的23个常染色体短串联重复序列(STR)基因座。

对象与方法

总共对3751名来自中国南方汉族人群的无关个体,使用5染料金睛25A多重扩增系统进行基因分型。PCR产物使用阵列毛细管电泳进行分离。对23个常染色体STR基因座的等位基因频率和法医参数进行统计分析。

结果

共观察到344个等位基因,23个STR基因座的相应等位基因频率范围为0.0001 - 0.5519。未观察到显著偏离哈迪-温伯格平衡和连锁不平衡的情况。三联体和二联体案件的联合鉴别力(CPD)分别为1 - 1.6290×10和联合排除力(CPE)分别为0.99999999989和0.99999928693。从3865个减数分裂中,发现了87个突变事件。每个基因座的突变率在0 - 0.00285之间变化。单步突变占总突变的94.25%。父系与母系突变的比例为3.76:1。观察到1.13种n/(n + 1)杂合子基因型。

结论

结果表明,金睛25A试剂盒的23个STR基因座在中国南方汉族人群中具有高度多态性,表明该试剂盒适用于法医应用。

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