PowerPlex~(TM) 16体系在中国人群中罕见等位基因及其类型

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。

The frequencies of rare alleles in Chinese population using PowerPlexTM 16 System

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.