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[中国南方汉族人群23个常染色体短串联重复序列位点的基因多态性]

[Genetic polymorphisms of 23 autosomal short tandem repeat loci among ethnic Han Chinese from southern China].

作者信息

Zhang Yaqing, Yang Chao, Chen Sen, Zhang Ying'ai

机构信息

Institute of Blood Transfusion, Blood Center of Hainan Province, Haikou, Hainan 570311, China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2019 Feb 10;36(2):171-174. doi: 10.3760/cma.j.issn.1003-9406.2019.02.020.

DOI:10.3760/cma.j.issn.1003-9406.2019.02.020
PMID:30703241
Abstract

OBJECTIVE

To study genetic polymorphisms of 23 autosomal short tandem repeat (STR) loci among ethnic Han Chinese from southern China.

METHODS

The 23 autosomal STR loci among 331 unrelated healthy Han Chinese from southern China were genotyped with fluorescent multiplex amplification and capillary electrophoresis. Genetic parameters were subjected to statistical analysis.

RESULTS

In total 265 alleles and 890 genotypes were detected for the 23 STR loci. The numbers of alleles were 5-22, allelic frequency was 0.0015-0.5483, heterozygosity was 0.5891-0.9124, power of discrimination was 0.7818-0.9831, polymorphic information content was 0.5425-0.9031, probability of exclusion for trio-paternity testing was 0.2780-0.8208, and probability of exclusion for duo-paternity testing was 0.193-0.693. The combined power of discrimination was over 0.999 999 999 999 99, the combined probability of exclusion for trio-paternity identification was 0.999 999 999 729 813, and the combined probability of exclusion for duo-paternity identification was 0.999 999 207 508 474, respectively. The 23 STR loci showed no significant deviation from Hardy-Weinberg disequilibrium after Bonferroni correction (P> 0.05).

CONCLUSION

The 23 autosomal STR loci were highly polymorphic among ethnic Han Chinese from southern China, which showed a high efficiency for paternity testing, personal identification and population genetics.

摘要

目的

研究中国南方汉族人群中23个常染色体短串联重复序列(STR)位点的基因多态性。

方法

采用荧光多重扩增和毛细管电泳技术,对331名来自中国南方的无血缘关系的健康汉族个体的23个常染色体STR位点进行基因分型,并对遗传参数进行统计分析。

结果

23个STR位点共检测到265个等位基因和890种基因型。等位基因数为5 - 22个,等位基因频率为0.0015 - 0.5483,杂合度为0.5891 - 0.9124,鉴别力为0.7818 - 0.9831,多态信息含量为0.5425 - 0.9031,三联体亲权鉴定排除概率为0.2780 - 0.8208,二联体亲权鉴定排除概率为0.193 - 0.693。累积鉴别力超过0.999 999 999 999 99,三联体亲权鉴定累积排除概率为0.999 999 999 729 813,二联体亲权鉴定累积排除概率为0.999 999 207 508 474。经Bonferroni校正后,23个STR位点均未显示出与哈迪-温伯格平衡有显著偏差(P>0.05)。

结论

23个常染色体STR位点在中国南方汉族人群中具有高度多态性,在亲权鉴定、个体识别和群体遗传学研究中具有很高的效能。

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