山西陵川地区汉族人群19个STR基因座遗传多态性调查及法医学应用

Forensic medicine application and genetic polymorphisms of 19 STR loci in Han population in Lingchuan

目的:通过对山西省陵川县汉族人群19个STR基因座的遗传多态性进行调查,为本地区人群的同一认定和亲权鉴定活动提供计算基础。方法:STR复合扩增选取Goldeneye 20A系统,扩增对象为随机选取的山西省陵川县汉族201份无关个体血样,扩增产物的电泳使用3130XL遗传分析仪,并利用Genemapper3.2软件分析电泳结果。统计201份无关个体血样19个STR基因座的法医遗传学参数。结果:19个STR基因座分别检出12、8、14、17、13、6、7、7、7、8、10、7、9、6、18、6、12、12、18个等位基因,计算出19个STR基因座的基因频率、杂合度期望值(He)、杂合度观察值(Ho)、个人识别能力(DP)、偶合率(PM)、非父排除率(PE)、多态信息总量(PIC)等法医遗传学参数,并得到Goldeneye 20A系统效能数据:累积个人识别率为1~8.11×10^(-23),累积非父排除率为0.999 999 988。结论:在山西陵川地区汉族人群中,Goldeneye 20A复合扩增系统19个STR基因座的识别能力和遗传多态性较高,为山西陵川地区区域性法医学个体识别和亲权鉴定提供强有力的基础数据支撑。

Objective：To study the genetic polymorphisms of short tandem repeats（ STR） loci in Han population in Lingchuan county of Shanxi province,and evaluate their forensic application. Methods：All 201 unrelated individuals of Han population in Lingchuan county were amplified by using a Goldeneye 20 A STR amplification Kit,and analyzed by 3130 XL genetic analyzed,and were investigated to determine the distributions of allele frequencies. Results：Allele distributions of the 19 loci have been obtained. 12,8,14,17,13,6,7,7,7,8,10,7,9,6,18,6,12,12 and 18 alleles were found in the preview 19 STR loci. We also obtained some parameter of forensic genetics respectively,such as gene frequency,expected heterozygosity（ He）,observed heterozygosity（ Ho）,discrimination power（ DP）,matching probability（ PM）,probability of paternity exclusion（ PE） and polymorphism information contents（ PIC）. The cumulative discrimination power and cumulative probability of exclusion of 19 loci is1 - 8. 11 × 10- 23 and 0. 999 999 988. Conclusion：The 19 STR loci are highly polymorphic and suitable for forensic personal identification and paternity testing in Lingchuan county.