Núcleo de Genética Humana e Molecular-Departamento de Ciências Biológicas-Universidade Federal do Espírito Santo, Vitória 29075-910, Espirito Santo, Brazil.
Laboratório de DNA Forense-Polícia Civil do Espírito Santo, Vitória 29045-402, Espirito Santo, Brazil.
Genes (Basel). 2022 Sep 7;13(9):1597. doi: 10.3390/genes13091597.
Microsatellite genetic markers are the gold standard for human genetic identification. Forensic analyses around the world are carried out through protocols using the analysis of STR markers in autosomal chromosomes and in the Y chromosome to solve crimes. However, these analyses do not allow for the resolution of all cases, such as rape situations with suspicion of incest, paternity without a maternal sample for comparison, and biological traces with DNA mixture where the profile sought is female, among other situations. In these complex cases, the study of X-chromosome STR markers significantly increases the probability of identification by complementing the data obtained for autosomal and Y-chromosome markers, due to the unique structure of the X chromosome and its exclusive method of inheritance. However, there are currently no validated Brazilian protocols for this purpose, nor are there any population data necessary for statistical analyses that must be included in the issuance of expert reports. Thus, the aim of this article is to provide a literary review of the applications of X-chromosomal markers in population genetics.
微卫星遗传标记是人类遗传识别的金标准。世界各地的法医分析都是通过使用分析常染色体和 Y 染色体上的 STR 标记的协议来解决犯罪。然而，这些分析并不能解决所有案件，例如涉嫌乱伦的强奸情况、没有母亲样本进行比较的亲子鉴定，以及 DNA 混合的生物痕迹，其中寻求的特征是女性，以及其他情况。在这些复杂的情况下，研究 X 染色体 STR 标记通过补充常染色体和 Y 染色体标记获得的数据，极大地增加了识别的可能性，这是由于 X 染色体的独特结构及其独特的遗传方式。然而，目前没有为此目的验证过的巴西协议，也没有进行统计分析所需的人口数据，这些数据必须包含在专家报告的发布中。因此，本文的目的是对 X 染色体标记在群体遗传学中的应用进行文献综述。
