D18S51基因座等位基因丢失的亲子鉴定案例分析  

Case analysis of allelic drop-out at D18S51 locus by parentage testing

作　　者：张晨[1,3] 朱明赫 李淑萍 Zhang Chen;Zhu Minghe;Li Shuping(Teaching and Research Section of Biochemistry,Changchun Medical College,Changchun 130031,China;Teaching and Research Section of Forensic Medicine,Harbin Medical University,Harbin 150081,China;Jilin Jinke Judicial Identification Center,Changchun 130012,China)

机构地区：[1]长春医学高等专科学校生化教研室,长春130031 [2]哈尔滨医科大学法医学教研室,哈尔滨150081 [3]吉林津科司法鉴定中心,长春130012

出　　处：《国际遗传学杂志》2024年第5期351-354,共4页International Journal of Genetics

基　　金：长春医学高等专科学校项目(2020KJ009);哈尔滨医科大学大学生创新创业训练计划项目(202310226088)。

摘　　要：目的区别"等位基因丢失"和"基因突变"现象,得到本案检材在D18S51基因座上的正确基因型。方法针对本案"被检父与孩子仅在D18S51基因座上不符合孟德尔遗传定律"的初检结果,通过深入分析其基因型和等位基因峰高特点,拟定其原因为"等位基因丢失",并换用包含D18S51基因座的其他试剂盒进行复检。结果复检结果显示,被检父与孩子在D18S51基因座上均存在等位基因19,二者的正确基因型分别为13,19和18,19,符合孟德尔遗传定律。结论本案在D18S51基因座上的初检结果发生了"等位基因丢失",而非"基因突变",支持被检父为孩子的生物学父亲。Objective To distinguish the appearance of"allelic drop-out"and"gene mutation"and obtain the correct genotype at D18S51 locus.Methods In view of the preliminary results of the case that"the alleged father and the child only did not conform to the Mendelian inheritance at D18S51 locus",through the deep analysis of the genotype results and allele peak characteristics,the proposed reason was"allelic drop-out"and tested by other kit containing the D18S51 locus again.Results The review results demonstrated that the allele 19 existed both in the alleged father and the child,their correct genotype results were 13,19 and 18,19 respectively,which fitted to Mendel′s law of inheritance.Conclusion The preliminary results at the D18S51 locus in this case demonstrated"allelic loss"rather than"genetic mutation",supporting the biological father of the child.

关 键 词：法医物证学 亲子鉴定 D18S51基因座 等位基因丢失 

分 类 号：D919.2[医药卫生—法医学]