X染色体Amelogenin等位基因缺失的研究  

Allelic dropout of amelogenin gene on X chromosome

作　　者：陈勇[1] 孙宏钰[1] 陈爱萍[1] 陈维红[1] 何树文[2] 

机构地区：[1]广州中山大学中山医学院法医物证学教研室,广州510089 [2]广州市公安局水上分局刑警大队技术中队,广州510089

出　　处：《中华检验医学杂志》2008年第4期446-449,共4页Chinese Journal of Laboratory Medicine

摘　　要：目的 探讨采用Amelogenin基因常规Sullivan106／112bp体系进行性别鉴定时X染色体Amelogenin等位基因片段（Amel-X）缺失的原因以及缺失后对法医物证性别鉴定和临床疾病诊断的影响。方法 采用Sullivan212／218bp和Haas-Rochholz80／83bp引物体系对Amel-X缺失的样本进行验证，并对缺失的Amel-X进行序列分析。结果 采用Sullivan212／218 bp和Haas-Rochholz80／83bp引物体系分型时均可重获缺失的等位基因。测序分析在Sullivan106／112 bp体系的正向引物结合区检出3种点突变，包括分别位于3’端第2位、第13位的单点突变以及第2位和第13位同时发生的杂合多点突变。结论 引物结合区点突变导致的无效扩增是Amel-X等位基因缺失的原因，这在实践中会干扰性别鉴定，需引起重视。Objective To investigate the mechanism that cause allelic dropout of amelogenln gene on X chromosome （Amel-X） when using routine Sullivan106/112 bp primer set in sex identification and discuss its influence on the forensic sex identification and the clinical diagnosis. Methods Amel-X dropout was validated with Sullivan212/218 bp and Haas-Rochholz80/83 bp primer sets. Amplification of amelogenin gene was used to analyze dropout of the Amex-X followed by sequencing. Results Sullivan212/218 bp and Haas-Rochholz80/83 bp primer sets could be used to identify gender correctly. Three types of point mutation were observed in the forward primer binding region of the Sullivan106/112 bp primer set by sequencing in the lost Amel-X, including single point mutation at 2nd and 13th sites, respectively, and heterozygous multiple point mutations at 2nd and 13th sites. Conclusions Point mutation in the primer binding region may result in a failure to amplify amelogenin allele and thus lead to a null allele. This finding should be paid attention to because it may interfere with the sex identification.

关 键 词：X染色体 牙釉质蛋白质类 杂合子丢失 突变 

分 类 号：R686[医药卫生—骨科学]