Amelogenin基因遗传变异及其法医学应用研究进展  

Genetic variations of Amelogenin gene and development of its application in forensic medicine

作　　者：王克杰 郭利伟 黄艳梅 Wang Kejie;Guo Liwei;Huang Yanmei(Department of Forensic Genetics,School of Forensic Medicine,Xinxiang Medical University,Xinxiang City 453003,Henan Province;Xinxiang Key Laboratory of Forensic Science Evidence,Xinxiang City,453003,Henan Province)

机构地区：[1]新乡医学院法医学院法医物证学教研室,河南新乡453003 [2]新乡市法庭科学证据重点实验室,河南新乡453003

出　　处：《中国法医学杂志》2020年第4期422-425,421,共5页Chinese Journal of Forensic Medicine

基　　金：河南省教育厅自然科学基金资助项目13A310849;河南省高等学校重点科研项目16B310006。

摘　　要：人类牙釉质蛋白基因(Amelogenin, AMEL)为X、Y染色体同源基因,分别称为AMEL-X和AMEL-Y。根据二者在扩增序列大小的不同可以确定性别,在法医学实践和临床医学等应用中具有重要意义。但是,AMEL基因在不同个体和人群中的遗传变异而导致性别决定并不是100%准确;通常由于特异性产物扩增异常,有可能导致性别错判。本文重点从AMEL基因的遗传变异、分型技术、以及引起性别误判的应对策略方面进行综述。The Amelogenin gene is encoded by two single-copy genes which is located on Xp22.1-Xp22.3(AMEL-X) and Yp11.2(AMEL-Y), respectively. There are differences in size and sequence between AMEL-X and AMEL-Y that can be used for sex identification, which has significant value in forensic practice and clinical medicine. However, because of variation of Amelogenin among individuals and populations, this method of sex determination is not 100% accurate. The failure of amplification of X or Y chromosome specific products usually leads to the misjudgement of sex. This review is highlighted by the genetic variation of Amelogenin gene, genotyping technology, and the protocols of addressing the gender misjudgment.

关 键 词：人类牙釉质蛋白基因 性别鉴定 遗传变异 法医学 

分 类 号：DF795.1[医药卫生—法医学]