陕西汉族人群2号和11号染色体15个STR基因座的遗传多态性

Genetic polymorphism of 15 STR on chromosome 2 and 11 in Shaanxi Han people in China

目的：分析陕西汉族人群2号和11号染色体上15个短串联重复序列（shorttandem repeat，STR）住点的多态性。方法：采用荧光标记基因扫描技术对15个STR基因座在175例无血缘关系的陕西汉族人中的遗传多态性进行分析。结果：D2S335，D2S396，D2S338，D2S2382．D2S305．D25151，D2S2368，D2S391，D115912，D11S4090，D11S4147，D1154190，D11S4149．D11S4126．D11S4094分别检出11，11，11，10，8，8，9，12，7，11，8，10，5，5，6个等位基因，各位点等位基因型分布符合Hardy—Weinberg平衡，杂和度（heterozygosity，H）为0．4216～0．8517，个体识别力（power of discrimination，DP）为0．6568～0．9598，多态信息量（polymorphism information content，PIC）为0．4078～0．8366，非父排除率（probability of paternity exclusion，EPP）为0．3135～0，8537。结论：15个STR基因座在陕西汉族人群中具有较好的多态性，表明了陕西汉族人群15个STR基因座结构特征，为人类学、法医学研究提供了数据。

Objective To investigate the genetic polymorphism of 15 short tandem repeat （STR） loci on chromosome 2 and chromosome 11 in Shaanxl Han people in China. Methods Fluorescence-based gene scan technique was used to examine the genetic polymorphism of 15 STR loci in 175 unrelated individuals from Chinese Han population in Shannxi province. Results The number of alleles D2S335, D2S396, D2S338, D2S2382, D2S305, D2S151, D2S2368, D2S391, DllS912, DllS4090, DllS4147, DllS4190, DllS4149, DllS4126, and DllS4094 was 11,11,11,10,8,8,9,12 ,7,11,8,10,5,5, and 6. The distribution of allele frequencies of the 15 STR was consistent with Hard-Weinberg equilibrium （ P 〉 0. 05 ）. Heterozygosity （ H ） value was 0. 4216 -0.8517, the average power of discrimination （DP） was 0. 6568 -0. 9598 , polymorphism information content （ PIC ） was 0. 4078 - 0. 8366, and probability of paternity exclusion （EPP） was 0. 3135 -0. 8537. Conclusion The 15 STR loci have relatively high genetic polymorphism in Shaanxi Han population, which provides the genetic structure of Chinese Han groups, and is also useful in anthropology and forensic science.