摘要
目的探究二代测序(NGS)技术平台在法医短串联重复(STR)分型中的应用。方法采集402个广东汉族无关个体样本,基于Ion PGM测序平台,对15个STR基因座(D3S1358、D5S818、D7S820、D8S1179、D13S317、D16S539、D18S51、D21S11、CSF1PO、FGA、TH01、TPOX、v WA、D2S1338和D19S433)进行序列测定和基因分型。分析基于STR重复序列多态性检出的STR等位基因,计算其等位基因频率,评估法医学应用效能。结果在15个STR基因座中共检测到202种不同重复序列的等位基因。在D3S1358、D5S818、D13S317、D21S11、FGA、v WA、TH01等7个基因座中检测到54种长度相同而重复序列不同的等位基因亚型,基于重复序列多态性分析的STR分型技术的杂合度、个体识别力、多态信息含量、非父排除率等法医学参数均大于基于片段长度检测的STR分型技术,随机匹配概率小于基于片段长度检测的STR分型技术。结论基于NGS技术平台的STR分型技术提高了STR基因座的多态性和检测效能,具有很好的法医学应用价值。
Objective To explore the potential application of next generation sequencing （NGS） platform in forensic short tandem repeat （STR）typing. Methods 15 STR loci （including D3S1358, D5S818, D7S820, D8Sl179, D13S317, D16S539, D18S51, D21S11, CSF1PO, FGA, TH01, TPOX, vWA, D2S1338 and D19S433） were detected in 402 unrelated Guangdong Han individuals based on Ion PGM platform. The STR alleles based on the repeat region sequences were obtained. The frequencies of alleles and other forensic parameters were calculated. Results 202 alleles were detected in 15 STR loci from 402 unrelated Guangdong Han individuals. 54 sub- structure alleles were detected in 7 STR loci including D3S1358, D5S818, D13S317, D21S11, FGA, vWA and TH01. The forensic parameters of 15 STR loci detected by NGS platform, such as discrimination power （DP） , polymorphism information content （PIC） , heterozygosity （HO） , probability of exclusion （PE） , were higher than those detected by length- based STR genotyping technology while the random matching probability was lower than that of length-based STR genotyping technology. Conclusions Sequence-based NGS- STR genotyping can improve the polymorphism and detection performance of STR locus. The NGS- STR method possesses the value of forensic applications.
作者
张楚楚
彭丹
李海燕
唐振亚
李燃
李海霞
乌日嘎
孙宏钰
ZHANG Chu-chu;PENG Dan;LI Hai-yan;TANG Zhen-y;LI Ran;LI Hai-xia;WU Ri-ga;SUN Hong-yu(Department of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, Guagndong 510080;The Center of Criminal Technology of Guangdong Province, Guangzhou , Guangdong 510050, China)
出处
《热带医学杂志》
CAS
2017年第12期1573-1576,1600,共5页
Journal of Tropical Medicine
基金
国家自然科学基金面上项目(81671873)
中山大学青年教师重点培育计划项目(16ykzd08)
关键词
二代测序
短串联重复
序列多态性
法医遗传学
Next generation sequencing
Short tandem repeat （STR）
Sequence polymorphism
Forensic genetics
