Y chromosome interstitial deletion induced Y-STR allele dropout in AMELY-negative individuals
Y chromosome interstitial deletion induced Y-STR allele dropout in AMELY-negative individuals
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DOI：
10.1007/s00414-012-0720-8
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发表时间：
2012-09-01
影响因子：
2.1
通讯作者：
Hou, Yi-Ping
中科院分区：
文献类型：
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作者：
Ma, Yan;Kuang, Jin-Zhi;Hou, Yi-Ping
以淀粉原蛋白（AMEL）基因为性别标记的短串联重复序列（STR）已被用作法医DNA分析的常规工具。有报道称，由于AMELY等位基因缺失，基于mel的性别检测可能会将已知的男性误认为女性。其他性别标记，如y染色体短串联重复序列（Y-STR），可能是AMEL的替代，有助于性别确定。本研究采用AmpFlSTRA (R) Sinofiler和AmpFlSTRA (R) Y-filer (TM) PCR扩增试剂盒，鉴定了18只amely阴性雄性。因此，中国人群AMELY辍学率为0.227欧度（18/ 79304）。AMELY等位基因测序和无精子因子区分析表明，18个性别错误中有3个是由AMELY引物结合区突变引起的，其余15个性别错误是由于Y染色体长度变异的微缺失引起的。此外，还观察了AMELY缺失和Y-STRs缺失的变异组合模式。我们的数据表明，Y-STR基因座缺失可能表明更多的问题，特别是在混合样本的解释中。单倍群预测结果显示，7个AMELY缺失与变异Y- str缺失可归类为J2亚型，表明其中一些Y染色体可能来自共同祖先。
Short tandem repeat (STR) multiplexes with the amelogenin (AMEL) gene as a gender marker have been used as a routine tool of forensic DNA analysis. It has been reported that AMEL-based gender detection could misidentify a known male as a female due to the dropout of amelogenin Y (AMELY) allele. Other gender markers, such as Y-chromosomal short tandem repeat (Y-STR), may be a substitution of AMEL and help the sex determination. In current study, employing AmpFlSTRA (R) Sinofiler and AmpFlSTRA (R) Y-filer (TM) PCR Amplification kit, 18 AMELY-negative males were identified. Accordingly, the incidence of the AMELY dropout was 0.227 aEuro degrees (18/79,304) in Chinese population. Sequencing of AMELY allele and analyzing of azoospermia factors region suggested that 3 out of 18 misidentifications were induced by mutations in the primer-binding region of the AMELY, while other 15 sex misidentifications were results of Y chromosome microdeletions with variant lengths. Moreover, variant combination patterns of AMELY dropout and Y-STRs deletions were also observed. Our data suggested that Y-STR locus dropout may indicate more problems, especially in the mixed sample's interpretation. Results of haplogroup prediction showed that seven AMELY dropouts combined with variant Y-STR deletions can be classified as the J2 subdivision, suggesting that some of these Y chromosomes might descend from a common ancestor.