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河北汉族人群9个非DNA联合索引系统短串联重复序列位点的遗传多态性及其在亲子鉴定中的应用

[Genetic polymorphisms of nine non-DNA combined index system short tandem repeat loci in Hebei Han population and application in paternity testing].

作者信息

Guan Ya-qing, Fu Li-hong, Zhang Xiao-jing, Li Shu-jin, Cong Bin, Ma Chun-ling

机构信息

Hebei Key Laboratory of Forensic Medicine, Department of Forensic Medicine, Hebei Medical University, Shijiazhuang, Hebei, 050017 PR China.

出版信息

Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2011 Feb;28(1):103-7. doi: 10.3760/cma.j.issn.1003-9406.2011.01.023.

Abstract

OBJECTIVE

To investigate the polymorphisms of 9 non-DNA combined index system (CODIS) short tandem repeats (STRs), i.e., D7S3048, D8S1132, D11S2368, D2S1772, D6S1043, D13S325, D12S391, GATA198B05, D18S1364 in Hebei Han population, and evaluate the usage of them in paternity testing.

METHODS

One hundred and forty-seven unrelated healthy individuals from the Han population of Hebei province were genotyped using STRtyper10G kit including 9 STR loci on ABI 3130 Genetic Analyzer. Hardy-Weinberg equilibrium and population genetic parameters were calculated. Fourteen cases of motherless paternity testing and 2 cases of standard trios with mutation in 1 locus were detected using STRtyper10G.

RESULTS

(1) Ninety-nine alleles and 336 genotypes were observed in the 9 STR loci in the population. The cumulative discrimination power(DP) was higher than 0.999,999,999. The cumulative probability of exclusion (PE) for trios and duos were 0.999,974 and 0.998,759 respectively. Departure from Hardy-Weinberg equilibrium was not observed in any of the 9 loci. (2) The combined paternity index (PI) of the 14 cases of motherless paternity testing ranged from 10³-10⁶ for 15 STR loci in ID, whereas it reached 10⁵-10⁹ for 22 independent STR loci included in ID and STRtyper 10G. Possible mutation in FGA and vWA was observed in 2 cases of trios, and the combined PI was 5945 and 1840 respectively for 15 STR loci in ID. Adding STRtyper 10G to detect these 2 cases, the combined PI reached 2.76 × 10⁷ and 4.88 × 10⁷ respectively.

CONCLUSION

The genetic polymorphism of the 9 non-CODIS STR loci included in STRtyper 10G was quite high in Chinese Hebei Han population, indicating the 9 STR loci are valuable as complement markers for ID and PP16 kit in motherless paternity testing, paternity testing with mutation and other kinds of complicated paternity testing.

摘要

目的

研究河北汉族人群中9个非DNA联合索引系统(CODIS)短串联重复序列(STR),即D7S3048、D8S1132、D11S2368、D2S1772、D6S1043、D13S325、D12S391、GATA198B05、D18S1364的多态性,并评估其在亲子鉴定中的应用。

方法

采用STRtyper10G试剂盒对147名来自河北汉族人群的无血缘关系健康个体进行基因分型,该试剂盒包含9个STR位点,在ABI 3130遗传分析仪上进行检测。计算Hardy-Weinberg平衡和群体遗传参数。使用STRtyper10G检测14例无母亲参与的亲子鉴定案例以及2例有1个位点发生突变的标准三联体案例。

结果

(1)在该人群的9个STR位点中观察到99个等位基因和336种基因型。累积鉴别力(DP)高于0.999,999,999。三联体和二联体的累积排除概率(PE)分别为0.999,974和0.998,759。9个位点均未观察到偏离Hardy-Weinberg平衡的情况。(2)14例无母亲参与的亲子鉴定案例中,15个STR位点在身份鉴定(ID)中的联合父权指数(PI)范围为10³ - 10⁶,而在ID和STRtyper 10G中包含的22个独立STR位点时,联合PI达到10⁵ - 10⁹。在2例三联体案例中观察到FGA和vWA可能发生突变,对于ID中的15个STR位点,联合PI分别为5945和1840。添加STRtyper 10G检测这2例案例时,联合PI分别达到2.76×10⁷和4.88×10⁷。

结论

STRtyper 10G中包含的9个非CODIS STR位点在中国河北汉族人群中的遗传多态性相当高,表明这9个STR位点作为ID和PP16试剂盒的补充标记物,在无母亲参与的亲子鉴定、有突变的亲子鉴定及其他复杂亲子鉴定中具有重要价值。

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