PowerPlex^(TM) 16体系在中国人群中罕见等位基因及其类型  

The frequencies of rare alleles in Chinese population using PowerPlex^TM 16 System

作　　者：曾艳红[1] 孙宏钰[1] 童大跃[1] 陆惠玲[1] 黄艳梅[1] 台运春[1] 

机构地区：[1]中山大学中山医学院法医物证学教研室,广东广州510089

出　　处：《中国法医学杂志》2004年第2期78-79,83,共3页Chinese Journal of Forensic Medicine

摘　　要：目的 分析PowerPlexTM 16体系基因座在中国人群中的罕见等位基因及其类型。方法 应用PCR-STR和DNA序列分析技术,对4650个无关个体在15个STR基因座中的罕见等位基因进行检测。结果 在PowerPlexTM16体系中的D7S820、D16S539、Penta E基因座,检测到2种类型的罕见等位基因,而TH01、D21S11、D5S818、D13S317、Penta D、D8S1179、TPOX、FGA基因座检测出1种类型。其等位基因频率均较低(0.215‰-7.097‰)。结论 超出ladder范围的罕见等位基因序列比相邻等位基因增加(或减少)1个或数个重复单位,因碱基的插入或缺失的罕见等位基因出现在两等位基因之间。Objective To analyze the frequencies and types of rare alleles in Chinese population using PowerPlex?16 System. Methods PCR-STR and DNA sequencing technology were used to detect rare alleles at 15 STR loci for 4650 unrelated individuals. Results Two types of rare alleles were detected at D7S820, D16S539, Penta E loci and one type was detected at TH01, D21S11, D5S818, D13S317, Penta D, D8S1179, TPOX, FGA loci. The frequencies of rare alleles were around 0. 215‰-7. 097‰. Conclusion Alleles outside bounds of allelic ladder standard were result of adding (or reducing) one or more repeat unit comparing to border upon allele, and alleles off-ladder but within allelic ladder standard were result of insertion (or deletion) of bases.

关 键 词：PowerPlex^TM16体系 中国人群 等位基因 法医物证学 短串联重复序列 PCR-STR DNA序列 

分 类 号：D919[医药卫生—法医学]