摘要
目的:分析宁夏地区汉族人群19个短串联重复序列(STR)基因座(D19S433、D5S818、D21S11、D18S51、D6S1043、D3S1358、D13S317、D7S820、D16S539、CSF1PO、Penta D、vWA、D8S1179、TPOX、Penta E、TH01、D12S391、D2S1338、FGA)的基因频率、期望杂合度、个体鉴别力等法医学参数。方法:收集宁夏籍汉族个体347例为研究对象。用血样卡采集研究对象的外周静脉血,应用GoldeneyeTM DNA(免提取)身份鉴定系统20A对上述19个STR基因座及牙釉基因直接进行复合扩增。采用ABI-3130XL型基因分析仪进行毛细管电泳法检测19个位点基因座的基因型及等位基因。应用HWE精确检验软件对研究对象的19个STR基因座位点的基因型频率分布进行Hardy-Weinberg平衡检验。采用PowerStats分析软件对STR基因座等位基因及基因型数据进行处理。结果:19个STR基因座的基因型分布均符合Hardy-Weinberg平衡。19个STR遗传比标记具有高度多态性。宁夏汉族19个STR基因座共检出120个等位基因,共775种基因型,等位基因频率分布在0.001至0.503。19个STR基因座的期望杂合度(He)在0.631～0.905之间,匹配概率(Pm)在0.032～0.186,个体鉴别力(DP)在0.814～0.986,非父排除率(PE)在0.330～0.770,亲权指数在1.360～5.260,多态性信息含量在0.590～0.920。结论:19个STR组成的复合检测系统在宁夏汉族人群中具有高度的多态性和鉴别能力,可用于该群体法医学个体识别、亲权鉴定及群体遗传学研究。
To study the 19 genetic short tandem repeat(STR)loci including D19S433,D5S818,D21S11,D18S51,D6S1043,D3S1358,D13S317,D7S820,D16S539,CSF1PO,PentaD,vWA,D8S1179,TPOX,PentaE,TH01,D12S391,D2S1338 and FGA in Ningxia Han population,and their allelic frequencies,power of discrimination(DP),probability match(Pm),expected heterozyogosity(He),paternity index(PI),polymorphism information content(PIC),and power of exclusion(PE).Methods:A total of 347 specimens were collected from Han population in Ningxia province.Samples were coagulated with FTA and amplification of 19 STR loci were performed using the Goldeneye TM DNA multiple STR kits.PCR products were separated by ABI 3130XL sequencer and genotyped with Gene Mapper V3.2 software.Allele frequencies and forensic parameters were calculated with diverse software.Statistics of each STR loci genotypic frequency were collected,and the Hardy-Weinberg Genetic balance test was carried out.The Power-Stats software was used to obtain allele frequencies of the 19 STR loci.Results:No deviation was observed of the allele frequency from Hardy-Weinberg equilibrium.All of the 19 loci were highly polymorphic.120 alleles and 775 genotypes of 19 STR loci were recognized in 347 unrelated Han individuals from Ningxia.The allele frequencies ranged from 0.001 to 0.503.He ranged from 0.631 to 0.905,Pm was 0.032-0.1860,DP of signal STR loci was 0.814-0.986,PE was 0.330-0.770,Paternity index(PI)was 1.360-5.260,PIC was 0.590-0.920.Conclusion:The 19 STR multiple system affords high genetic polymorphism and discrimination power in Ningxia Han population,and it is significant in forensic identification,paternity testing,and population genetic study.
作者
马佳
郝绍文
赵新艳
戴晓婧
焦海燕
Ma Jia;Hao Shaowen;Zhao Xinyan;Dai Xiaojing;Jiao Haiyan(School of Basic Medicine Science,Ningxia Medical University,Yinchuan 750004;Department of Emergency of General Hospital,Ningxia Medical University,Yinchuan 750004;;Key Laboratory of Fertility Preservation and Maintenance of Ministry of Education,Ningxia Medical University,Yinchuan 750004;;Public Security Bureau of Yinchuan,Yinchuan 750004,China;Health Science Center,University of Texas Houston,77030 Texas,USA)
出处
《解剖学杂志》
CAS
CSCD
2018年第6期694-698,共5页
Chinese Journal of Anatomy
基金
宁夏回族自治区自然科学基金(NZ16074)
关键词
宁夏
汉族
短串联重复序列
遗传多态性
Ningxia
Han nationality
short tandem repeat
genetic polymorphism
