常染色体STR基因座肩峰基因型的判别  

Discrimination of shoulder peak genotypes in autosomal STR loci

作　　者：陈玲[1] 邱平明[1] 余嘉欣 陆慧洁 黄恩平[1] 台运春[1] 

机构地区：[1]南方医科大学基础医学院法医学系,广东广州510515

出　　处：《分子诊断与治疗杂志》2014年第3期183-186,共4页Journal of Molecular Diagnostics and Therapy

摘　　要：目的观察亲子鉴定常用的27个STR基因座检验分型中的肩峰图谱,探讨相差一个碱基的两等位基因分型结果(肩峰基因型)的特点。方法对11 985宗亲子鉴定案例(含29 111个个体)的STR分型数据进行分析,观察肩峰基因型的图谱,统计肩峰基因型的频率,分析肩峰基因型的特点。结果87个个体在10个基因座上检出19种肩峰基因型。其中TH01基因座的9.3/10基因型检出率最高,为0.1983%(22/11 096);其次为D21S11基因座的30.3/31基因型,检出率为0.0481%(14/29 111)。肩峰基因型的电泳图谱表现为典型或不典型的肩峰形状,且结果可重复。结论对肩峰图谱判读须慎重,避免肩峰基因型的漏判和误判。Objective To observe the shoulder peak profiles in 27 autosomal STR loci used for paternity analysis and analyze the genotypes of single base pair difference （shoulder peak genotypes）. Methods STR data of 11985 paternity cases （29 111 individuals） was analyzed.The profiles of shoulder peak genotypes were observed.The frequency of shoulder peak genotypes was calculated. The characteristic of shoulder peak genotypes was analyzed. Results 19 kinds of shoulder peak genotypes of 10 loci were observed in 87 individuals. The frequency of THO1 ＂9.3,10＂ genotypes was 0.1983% （22/11 096）. The frequency of D21Sll ＂30.3/31＂ genotypes was 0.0481% （14/29 111）. The typical or atypical shoulder peaks were observed in profiles of shoulder peak genotypes, which can be repeated. Conclusion The careful assessment is needed for shoulder peak profiles, and the misreading of shoulder peak genotypes should be avoided.

关 键 词：法医物证学 STR基因座 肩峰 肩峰基因型 

分 类 号：R394[医药卫生—医学遗传学]