中国人群Amelogenin基因的突变频率和突变类型  

Types and frequencies of variants in Amelogenin gene in Chinese population

作　　者：陈爱萍[1] 陈勇[1] 王会品[1] 陈维红[1] 陈浩[1] 陈丽娴[1] 孙宏钰[1] 

机构地区：[1]中山大学中山医学院法医学系,广州510089

出　　处：《中华医学遗传学杂志》2007年第6期615-619,共5页Chinese Journal of Medical Genetics

基　　金：国家自然科学基金（30400519）;广州市科委科技攻关重大项目（200521-E0051）

摘　　要：目的调查Amelogenin基因在中国人群的突变频率和突变类型,评估其对性别鉴定的影响。方法采用PowerPlexR16系统对8850名已知性别的中国无关个体进行Amelogenin基因内含子1区6bp缺失的检测,统计分型异常的个体,采用Amelogenin基因其它引物体系和Y染色体短串联重复序列（Yshort tandem repeats,Y-STR）基因座对突变样本进行验证并测序。结果在男性群体中检出2例X染色体Amelo-genin（AMELX）等位基因丢失的样本和2例Y染色体Amelogenin（AMELY）等位基因丢失的样本,总突变率为0.045%,男性群体中的突变率为0.085%。对丢失的AMELX等位基因测序,在其正向引物结合区检出2种点突变,推测因此产生无效等位基因,该类突变在男性群体中约为0.042%;AMELY等位基因丢失在男性群体中的突变率也为0.042%,其中1个样本在12个Y-STR基因座中有10个基因座扩增失败,推测在Y染色体上包括AMELY和Y-STR基因座在内的较大片段缺失。结论Amelogenin基因突变会造成AMELX等位基因或AMELY等位基因丢失,将干扰性别鉴定,导致性别错判,在检验时值得注意。Objective To investigate the types and frequencies of variants in Amelogenin gene in Chinese population and to explore the mutations＇ influence to the sex test. Methods The Amelogenin gene of 8850 unrelated Chinese individuals was typed with PowerPlex 16 system. The samples with abnormal typing results were calculated directly, validated with different primer sets, Y-STR typing and sequencing. Results Two samples with X chromosomal Amelogenin （AMELX） allelic dropout and 2 samples with Y chromosomal Amelogenin （AMELY） allelic dropout were observed in male individuals, the total rate of mutation was 0. 045 % and the rate in the male was 0.085 %. Two types of point mutation which may result in null allele were observed in the primer binding region of the ＂lost＂ AMELX alleles, and the mutation rate in the male was 0.042%. The mutation rate of AMELY allele was also 0.042%. One sample failed to amplify 10 Y-STR loci out of 12 loci, which could be speculated that large interstitial deletion of the Y chromosome encompassing the AMELY and other Y-STR loci occurred. Conelusinn AMELX or AMELY allelic dropout may occur due to the mutation of Amelogenin gene, which may interfere with the sex test and induce wrong gender identification.

关 键 词：Amelogenin基因 性别鉴定 突变 

分 类 号：R686[医药卫生—骨科学]