Recently, proteomic analysis of sex-specific amelogenin peptides in tooth enamel has been proposed as a promising new method for the assignment of sex to human skeletal remains in archaeological and forensic settings. The method was initially based on the surface acid etching of tooth enamel and subsequent identification of a marker peptide that could be attributed to sex-chromosome specific amelogenins via mass spectrometry. The previous three years have brought forth several technical improvements that increased sensitivity of the method, notably development of new enamel protein extraction techniques, advanced bioinformatic data processing for the detection of multiple sex-specific amelogenin peptides and statistical framework for the estimation of both male and female sexes. This focus article shows that the proteomic method, even after these technical improvements, has the same limitation as the PCR-based amelogenin sex tests do, which directly use amelogenin alleles as markers for the sex chromosomes. The fact is that tooth enamel in some phenotypically normal males lacks Y amelogenin-specific peptides as a result of the Y amelogenin allele (AMELY) deletion. The prevalence of AMELY negative males is generally lower than 1% but may approach 10% in Indian subcontinent populations. Genetic studies indicate that the alteration might be several thousand years old. Using a proteomic approach to sex estimation, these individuals would be falsely identified as females with a potentially significant impact on forensic investigations or archaeological work. Therefore, this possibility should be taken into consideration even in populations with a low frequency of AMELY deletion and regardless of the female sex probability predicted by the existing statistical model. Unfortunately, no proteomics-based control measures exist because the genes for non-amelogenin proteins (ameloblastin, enamelin, and tuftelin) are located on autosomal chromosomes.

近来，已经提出了在牙釉质中对性别特异性牙釉蛋白肽进行蛋白质组学分析的方法，作为在考古学和法医鉴定中将性别分配给人类骨骼遗骸的一种有前途的新方法。该方法最初是基于对牙釉质的表面酸蚀，随后是通过质谱鉴定可归因于性染色体特异性牙釉蛋白的标志物肽。在过去的三年中，已经进行了多项技术改进，提高了方法的灵敏度，特别是开发了新的牙釉质蛋白提取技术，用于检测多种性别特异性牙釉蛋白原肽的先进生物信息数据处理以及用于估计男性和女性的统计框架。女性。本文重点介绍蛋白质组学方法，即使经过这些技术改进，其局限性也与基于PCR的釉原蛋白性试验相同，后者直接使用釉原蛋白等位基因作为性染色体的标记。事实上，由于Y牙釉蛋白等位基因（AMELY）缺失，某些表型正常的男性牙釉质缺乏Y牙釉蛋白特异性肽。AMELY阴性男性的患病率通常低于1％，但在印度次大陆人群中可能接近10％。遗传研究表明，这种改变可能已有几千年的历史了。使用蛋白质组学方法进行性别估计，这些人将被错误地识别为女性，这可能会对法医调查或考古工作产生重大影响。所以，即使在AMELY缺失频率较低的人群中，也不应考虑这种可能性，而与现有统计模型预测的女性性别概率无关。不幸的是，不存在基于蛋白质组学的控制措施，因为非釉原蛋白蛋白（釉原蛋白，釉蛋白和tuftelin）的基因位于常染色体上。