Chen Ai-ping, Chen Yong, Wang Hui-pin, Chen Wei-hong, Chen Hao, Chen Li-xian, Sun Hong-yu
Department of Forensic Medicine, Zhongshan School of Medicine, Sun Yat-sen University, Guangzhou, Guangdong, 510089 PR China.
Zhonghua Yi Xue Yi Chuan Xue Za Zhi. 2007 Dec;24(6):615-9.
To investigate the types and frequencies of variants in Amelogenin gene in Chinese population and to explore the mutations' influence to the sex test.
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.
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 plostq 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.
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.
研究中国人群中牙釉蛋白基因变异的类型和频率，并探讨这些突变对性别检测的影响。
采用PowerPlex 16系统对8850名无血缘关系的中国个体的牙釉蛋白基因进行分型。对分型结果异常的样本直接进行计算，并用不同引物组、Y-STR分型和测序进行验证。
在男性个体中观察到2例X染色体牙釉蛋白（AMELX）等位基因缺失和2例Y染色体牙釉蛋白（AMELY）等位基因缺失，总突变率为0.045%，男性突变率为0.085%。在plostq AMELX等位基因的引物结合区观察到两种可能导致无效等位基因的点突变，男性突变率为0.042%。AMELY等位基因的突变率也为0.042%。1个样本在12个Y-STR位点中有10个未能扩增，推测可能发生了包含AMELY和其他Y-STR位点的Y染色体大片段间质缺失。
牙釉蛋白基因突变可能导致AMELX或AMELY等位基因缺失，从而干扰性别检测并导致错误的性别鉴定。
