Y染色体微缺失和突变的全同胞关系鉴定  

Microdeletion and Mutation of Y Chromosome in Full Sibling Identification

作　　者：苏芹 步凡[2] 陈冲 石研 路志勇 刘雅诚 

机构地区：[1]北京市公安司法鉴定中心,北京100192 [2]北京市公安局西城分局刑侦支队,北京100055 [3]北京通达首诚司法鉴定所,北京100192

出　　处：《法医学杂志》2016年第6期438-440,共3页Journal of Forensic Medicine

摘　　要：目的探讨Y染色体微缺失和突变时,两男性个体间的全同胞关系鉴定。方法提取两样本DNA,检测Y-STR分型及常染色体STR分型,通过IBS法、ITO法及全同胞-无关个体判别函数法计算两个体间的全同胞关系。结果 33个Y-STR基因座中有2个基因座存在突变,其中一样本存在19个基因座的缺失。两样本IBS为53,大于阈值42;累积全同胞关系指数为1.36×10^(16),远远大于19;全同胞-无关个体判别函数D_(FS2)>D_(R2)。因此倾向于认为两个体为全同胞。结论对于Y染色体微缺失和突变需要进行父系鉴定的情况,可以综合应用IBS法、ITO法以及全同胞-无关个体判别函数法以得出更为可靠的鉴定意见。Objective To explore the identification method of full sibling between two males with mi-crodeletion and mutation of Y chromosome. Methods DNA were extracted from two samples. The type testing of Y-STR and autosomal STR were performed. Full sibling between two individuals was calcu-lated by IBS, ITO and discriminant functions methods. Results There were 2 loci mutations existed in 33 Y-STR loci and one of the two samples had 19 loci deletions. The IBS of two samples was 53 and greater than the threshold which was 42; FSI was 1.36xl016 and far greater than 19. The discriminant function of full sibling-unrelated individual was greater than which meant the two individuals tend to be full sibling. Conclusion The methods of IBS, ITO and discriminant functions of full siblingunrelated individual can be used comprehensively to provide more reliable expert opinion in microdele-tion and mutation of Y chromosome in full sibling identification.

关 键 词：法医遗传学 Y染色体 同胞关系 染色体缺失 突变 

分 类 号：R698.2[医药卫生—泌尿科学]