落入相邻基因座范围的D13S325稀有等位基因分析  

Analysis of rare alleles of D13S325 falling in the range of adjacent locus

作　　者：陈文静[1] 彭珊[1] 王瑛[1] 童大跃[1] 陈勇[1] 陈维红[1] 孙宏钰[1] 

机构地区：[1]中山大学中山医学院法医学系,广州510080

出　　处：《中华医学遗传学杂志》2014年第2期247-249,共3页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（81273347）

摘　　要：目的探讨在STRtyper-10G体系中，落入D12S391基因座范围的D13S325基因座稀有等位基因的识别及其对法医物证鉴定的影响。方法采用SinofilerTM体系和单基因座扩增体系对疑为包含落入D12S391基因座范围的D13S325稀有等位基因的家系案例进行分型验证，分离等位基因并进行DNA序列测定。结果在2618份亲子鉴定中共检出5个家系包含被误判为D12S391等位基因20的D13S325稀有等位基因，根据其DNA序列命名为5．1，等位基因频率为0．156×10-2。结论STRtyper-10G体系中D13S325的稀有等位基因5．1易被错误判读，在进行亲子鉴定、个体识别和DNA数据库比对时应引起注意。Objective To analyze the rare alleles of D13S325 locus which fell in the size range of D12S391 locus with the STRtyper-10G kit. Methods Genotyping results of cases with suspected rare alleles of D13S325 were verified with SinofilerTM kit and a singleplex amplification system. The rare alleles were separated and sequenced. Results Five families were detected with rare alleles of the D13S325 locus, which were misread as allele 20 of D12S391 locus. The alleles were named as 5.1 based on DNA sequences and have a frequency of 0. 156 × 10-2. Conclusion As the rare allele 5. 1 of D13S325 locus with the STRtyper-10G kit is prone to be mistyped, attention should be paid in the paternity testing, personal identification and DNA database search.

关 键 词：D13S325等位基因 稀有等位基因 亲子鉴定 个体识别 

分 类 号：R394[医药卫生—医学遗传学]