摘要
目的分析中国汉族人群短串联重复序列(STR)D13S317基因座等位基因多态性,发现及鉴定中国人群中D13S317基因座新的STR三带型等位基因,排除非特异性扩增及侧翼序列基因变异产生的三带型等位基因,研究新的三带型等位基因序列特征及遗传方式。方法选取2017年10月17日至2018年12月28日于广东深光法医物证司法鉴定所进行鉴定的378例样本为研究对象。常规采用GlobalFiler™Express试剂盒作STR基因分型初检,对疑似三带型等位基因的家系采用PowerPlex®21试剂盒作STR基因分型复检,复检后采用分子克隆测序技术排除引物结合区及侧翼序列基因变异产生的三带型等位基因的可能。结果初检共计检出6个D13S317等位基因,基因频率分布特征分别是8(29.1%)、9(13.1%)、10(15.21%)、11(24.21%)、12(13.89%)和13(3.44%);其中有1个家系中先证者的D13S317基因座疑似为三带型等位基因(8、9、10)。复检与初检结果一致。先证者及其女儿D13S317基因座分子克隆测序分析未发现引物结合区及侧翼序列有基因变异,确认先证者D13S317基因座为三带型等位基因。结论在中国人群中确认了1例D13S317基因座2型三带型等位基因(8、9、10),该三带型等位基因未遗传给女性子一代,并首次被国际STRBase数据库收录。
Objective To study the genetic polymorphisms of short-tandem repeats(STR)for the D13S317 locus among an ethnic Han Chinese population and verify a novel tri-allelic pattern identified for the locus.Methods A total of 378 paternity test cases from Guangdong Forensic Authentication Institute from October 17,2017 to December 28,2017 were selected as the study subjects.A GlobalFiler™Express kit was used for the STR genotyping.Samples suspected for having a novel tri-allelic pattern were verified with a PowerPlex®21 kit.Potential variant of the primer-binding region and flanking sequences underlying the tri-allelic pattern was excluded by molecular cloning and sequencing.Results Six alleles were detected for the D13S317 locus,with the characteristic distribution frequencies being 8(29.1%),9(13.1%),10(15.21%),11(24.21%),12(13.89%)and 13(3.44%),respectively.In one of the families,the D13S317 locus of the proband was suspected to harbor a triband allele(8,9,10).A re-test has confirmed the result of initial test.Molecular cloning and sequencing analysis of the D13S317 locus in the proband and his daughter has failed to find allelic variants in the primer-binding region and flanking sequence,which has confirmed the novel tri-allelic pattern for the locus.Conclusion A novel type 2 tri-allelic pattern(8,9,10)at the D13S317 locus has been identified among the ethnic Han Chinese population.The pattern has not been transmitted to the female offspring,and has been included in the international STRBase database for the first time.
作者
高素青
何柳媚
李桢
张胤鸣
邓志辉
Gao Suqing;He Liumei;Li Zhen;Zhang Yinming;Deng Zhihui(Shenzhen Blood Center,Guangdong Shenguang Forensic Authentication Institute,Shenzhen,Guangdong 518020,China)
出处
《中华医学遗传学杂志》
CSCD
2024年第1期42-46,共5页
Chinese Journal of Medical Genetics
基金
深圳市医学重点学科(SZXK070)。
关键词
短串联重复
亲子鉴定
三带型等位基因
基因频率
Short tandem repeat
Paternity testing
Tri-allelic pattern
Allelic frequency
