摘要
目的探讨亲子鉴定中23个STR基因座在本地区人群中的突变分布情况。方法通过使用华夏白金复合扩增体系分析广东汉族人群中23个STR基因座(D22S1045、D16S539、TPOX、TH01、D13S317、D10S1248、D2S441、D5S818、D1S1656、D2S1338、D19S433、Penta D、CSF1PO、D7S820、D6S1043、D3S1358、D8S1179、D21S11、vWA、D12S391、D18S51、Penta E、FGA)的突变率,并对突变来源及突变步数进行统计分析。结果在突变观察分析中,在7850次亲子减数分裂中发现了168次突变,观察到的突变率的范围从0~0.0029,所有基因座的总体突变率为0.0214。绝大多数突变是一步突变(95.83%),还有少部分为二步突变(3.57%)和半步突变(0.6%)。父源突变率高于母源突变率,比率为4.1727∶1。结论STR各基因座的突变率以及父源和母源的突变率均存在差异,本研究丰富了广东省汉族人群STR基因座的突变数据,为广东地区亲子鉴定实践提供参考。
Objective To explore the mutation distribution of 23 STR loci in DNA paternity testing in local population.Methods The mutation rates of 23 STR loci(D22S1045,D16S539,TPOX,TH01,D13S317,D10S1248,D2S441,D5S818,D1S1656,D2S1338,D19S433,Penta D,CSF1PO,D7S820,D6S1043,D3S1358,D8S1179,D21S11,vWA,D12S391,D18S51,Penta E,FGA)in Han population of Guangdong were analyzed by using the Huaxia platinum complex amplification system,and statistically analyzed the mutation sources and steps.Results 168 mutations were found through 7850 parental meiosis observations,the observed mutation rate ranges from 0 to 0.0029,The overall mutation rate of all loci is 0.0214.The vast majority of mutations are one-step mutations(95.83%),with a small number of two-step mutations(3.57%)and a half-step mutation(0.6%).The paternal mutation rate is higher than the maternal mutation rate,with a ratio of 4.1727∶1.Conclusion The mutation rate of STR loci and the mutation rate of paternal and maternal sources are different.This study enriches the mutation data of STR loci in Han population in Guangdong province,and provides a reference for the practice of DNA paternity testing in Guangdong.
作者
张晓燕
娄季武
赵颖
刘双爱
严提珍
ZHANG Xiaoyan;LOU Jiwu;ZHAO Ying;LIU Shuangai;YAN Tizhen(Forensic Material Evidence Judicial Identification Institute of Dongguan Maternal and Child Health Care Hospital,Dongguan,Guangdong 523000,China;Dongguan Key Laboratory of Reproduction and Birth Defects Prevention and Control,Dongguan,Guangdong 523000,China;Dongguan Genetic Disorder Prenatal Testing Precision Medicine Key Laboratory,Dongguan,Guangdong 523000,China)
出处
《中国优生与遗传杂志》
2023年第12期2485-2488,共4页
Chinese Journal of Birth Health & Heredity
关键词
短串联重复序列
亲子鉴定
突变率
short tandem repeat
paternity testing
mutation rate
作者简介
通讯作者:严提珍.439078813@qq.com。
