法医学杂志 ›› 2016, Vol. 32 ›› Issue (6): 438-440.DOI: 10.3969/j.issn.1004-5619.2016.06.011

• 技术与应用 • 上一篇    下一篇

Y染色体微缺失和突变的全同胞关系鉴定

苏  芹1,步  凡2,陈  冲3,石  研3,路志勇1,刘雅诚3   

  1. (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)
  • 发布日期:2016-12-25 出版日期:2016-12-28
  • 作者简介:苏芹(1981—),女,主检法医师,主要从事法医DNA分析技术的应用和研究;E-mail:suqin925@163.com

Microdeletion and Mutation of Y Chromosome in Full Sibling Identification

SU QIN1, BU FAN2, CHEN CHONG3, SHI YAN3, LU ZHI-YONG1, LIU YA-CHENG3   

  1. (1. Forensic Science Service of Beijing Public Security Bureau, Beijing 100192, China; 2. Criminal Investigation Detachment, Xicheng Branch of Beijing Public Security Bureau, Beijing 100055, China; 3. Beijing Tongda Shoucheng Institute of Forensic Science, Beijing 100192, China)
  • Online:2016-12-25 Published:2016-12-28

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1.36×1016,远远大于19;全同胞-无关个体判别函数DFS2>DR2。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。

关键词: 法医遗传学, Y染色体, 同胞关系, 染色体缺失, 突变

Abstract: Objective To explore the identification method of full sibling between two males with microdeletion 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 calculated 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 1.36×1016 and far greater than 19. The discriminant function of full sibling-unrelated individual DFS2 was greater than DR2, which meant the two individuals tend to be full sibling. Conclusion The methods of IBS, ITO and discriminant functions of full sibling-unrelated individual can be used comprehensively to provide more reliable expert opinion in microdeletion and mutation of Y chromosome in full sibling identification.

Key words: forensic genetics, Y chromosome, sibling relations, chromosome deletion, mutation

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