Penta E基因座的遗传多态性及稀有等位基因分析  

Genetic study of the Penta E locus and identification of rare alleles

作　　者：赖力[1] 沈晓丽[1] 韩莉莉[1] 陈点[1] 胡洁[1] 

机构地区：[1]福建省立医院司法鉴定所、福建省心血管病重点实验室、福建医科大学省立临床学院,福州350001

出　　处：《中华医学遗传学杂志》2015年第5期657-660,共4页Chinese Journal of Medical Genetics

摘　　要：目的研究福建地区汉族群体PentaE基因座的遗传多态性并对出现的稀有等位基因进行分析，探讨该基因座的遗传学应用价值。方法采用聚合酶链反应一短串联重复序列技术对851名福建汉族无关个体进行PentaE基因座多态性分析，测定稀有等位基因的DNA序列，并统计分析494个亲权鉴定案例（共计674次减数分裂）中PentaE基因座的突变情况。结果在851名福建汉族无关个体中，共发现PentaE基因座的26个等位基因，基因频率范围为0．0006～0．1528；共检出7个稀有等位基因，并首次获得稀有等位基因28．4的DNA序列[AAAGA]29。统计福建汉族群体PentaE基因座的遗传学参数，其中多态信息含量为0．91，非父排除率为0．817，个体识别率为0．986及突变率为0．0015。结论福建汉族群体的PentaE基因座具有高度的多态性及较低的突变率，具有良好的遗传学应用前景。DNA测序技术对稀有等位基因的确认及命名具有重要的价值。Objective To study the genetic polymorphisms of Penta E locus in Fujian Han population. Methods Polymorphisms of the Penta E locus in 851 unrelated individuals were analyzed using polymerase chain reaction-short tandem repeat （PCR-STR）. The mutation rate of rare alleles was analyzed in 494 paternity identification cases （in a total of 674 meiosis）. Results Twenty-six alleles were identified for the Penta E locus, with their frequencies ranging from 0. 0006 to 0. 1528. There were 7 rare alleles, among which Penta E-28.4 （[AAAGA]29） was identified for the first time. Genetic parameters of the Penta E locus in Fujian Han population were obtained, including PIC= 0. 91, PE= 0. 817, PD= 0. 986, and mutation rate= 0. 0015. Conclusion The Penta E locus is highly polymorphic and has a low mutation rate in Fujian Han population. It also has a good prospect in genetics applications. DNA sequencing is a good method for identifying rare alleles.

关 键 词：Penta E基因座 基因频率 多态性 稀有等位基因 

分 类 号：R987[医药卫生—药品]