重庆地区汉族人群15个STR基因座遗传多态性研究

Study on genetic polymorphism of STR loci in Han nationality from Chongqing

目的对重庆地区汉族人群的15个短串连重复序列（STR）基因座进行遗传多态性调查。方法采用荧光标记STR—PCR复合扩增、毛细管电泳基因分型技术对225名无血缘关系的重庆地区汉族人群进行15个STR基因座的基因分型，计算基因频率，并得到杂合度（H）、个人识别力（DP）、匹配概率（Pro）、非父排除率（PE）、多态信息总量（PIC）、亲权指数（PI）等多态性统计学参数。结果在重庆地区汉族人群225名无血缘关系的个体中共检出162个等位基因，其频率分布0．0022～0．5089。15个STR基因座的杂合度0.6444～0．8705；个人识别力0．7782～0．9679；累积DP〉0．999999999；匹配概率0．0321～0．2218；累积Pm=1．21×10^-17；非父排除率0.3476～0．7357；累积PE=0．999999042；多态信息含量0.5604～0．8571；累积PIC=0．999999999；亲权指数1．4063～3.8621。结论此STR15个基因座具有高度多态性，是较理想的遗传标记，所得到的等位基因频率等数据可为重庆地区汉族的法医学个人识别、亲子鉴定及群体遗传学研究提供依据。

Objective To investigate the genetic polymorphism of 15 STR loci in Han nationality in Chongqing. Methods The technique of fluorescent dye labeling multiplex STR-PCR,capillary electrophoresis and DNA sequencer GeneScan,Genotyping was adopted in genotyping a sample of 225 unrelated individuals collected from Han nationality in Chongqing. The allele frequency of 15 STR loci was calculated, and the heterzygosity（H）, the power of discrimination（DP） ,the probability of matching（Pm）, the power of exclusion（PE） ,the polymorphism information content（PIC）and the paternity index（PI） were acquired. Result Among the Han population,we observed 162 alleles in 15 STR loci with their frequencies of 0. 002 2-0. 508 9. The genetype distributions meet Hardy-Weinberge equilibrium through 72 testing（P〉0.05）. Statistical result showed that the heterzygosity（H） were ranged from 0. 644 4-0. 870 5. The power of discrimination（DP） were 0. 778 2-0. 967 9,combined DP〉 0. 999,999,999. The probability of matching（Pm） were 0. 032 1-0. 221 8,combined Pm were 1.21 × 10^-17. The power of exclusion（PE） were 0. 347 6-0. 735 7, combined PE were 0. 999 999 042. The polymorphism information content（PIC） were 0. 560 4-0. 857 1, combined PIC= 0. 999 999 999. The paternity index（PI） were 1. 406 3-3. 862 1. Conclusion The 15 STR loci have higher polymorphism and ar6 satisfactory genetic markers. The data on the allele frequencies of these 15 STR loci can be used in individual identification, paternity testing and other population genetic researches for the Chongqing Han nationality.