Unidade de Xenética, Facultade de Medicina, Instituto de Ciencias Forenses, Universidade de Santiago de Compostela, Galicia, Spain.
Forensic Sci Int Genet. 2012 Dec;6(6):834-9. doi: 10.1016/j.fsigen.2012.03.003. Epub 2012 Apr 8.
The 17 Y-chromosomal short tandem repeats (STRs) included in the AmpFlSTR Yfiler Amplification Kit (AB Applied Biosystems) (DYS19, DYS389I, DYS389II, DYS390, DYS391, DYS392, DYS393, DYS385ab, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 and GATA H4.1) were typed in 292 samples from seven Italian regions. Population comparisons with other European samples were undertaken; for this purpose, two databases were collated from the literature: (a) 19 population samples including >2900 Yfiler profiles, and (b) 67 population samples including >15,000 minimum haplotype profiles. A total of 276 different Yfiler haplotypes were observed in Italy, and only one of them was shared among our seven population samples. The overall haplotype diversity (0.9996) was comparable to other European samples. AMOVA indicates that among population variance depends on the amount of Y-STRs used, being higher when using minimal haplotypes. This is probably due to the fact that Yfiler profiles are represented by singleton haplotypes in all the population samples raising the diversity values to the maximum theoretical value. AMOVA results seems to depend even more strongly on the amount of population samples used, the among population variance in Italy ranging from 2.82% to 11.03% (using 15 and 32 Italian populations samples, respectively). Variance is not as strongly stratified geographically within Italy, although it is notorious that latitude is more important than longitude in the distribution of variance. The results also indicated that Italy is less stratified than other European samples. The present study contributes to enrich the Y-chromosome databases regarding high-resolution Y-chromosome data sets and demonstrates that extended Y-STR profiles substantially increases the discriminatory capacity in individual identification for forensic purposes.
本研究使用 AmpFlSTR Yfiler Amplification Kit（AB Applied Biosystems）中的 17 个 Y 染色体短串联重复序列（STRs）（DYS19、DYS389I、DYS389II、DYS390、DYS391、DYS392、DYS393、DYS385ab、DYS437、DYS438、DYS439、DYS448、DYS456、DYS458、DYS635 和 GATA H4.1）对来自意大利 7 个地区的 292 个样本进行了分型。与其他欧洲样本进行了人群比较；为此，从文献中整理了两个数据库：（a）包括>2900 个 Yfiler 图谱的 19 个人群样本，以及（b）包括>15000 个最小单倍型图谱的 67 个人群样本。在意大利共观察到 276 种不同的 Yfiler 单倍型，其中只有一种在我们的 7 个人群样本中共享。总体单倍型多样性（0.9996）与其他欧洲样本相当。AMOVA 表明，人群间方差取决于所用 Y-STRs 的数量，使用最小单倍型时更高。这可能是由于 Yfiler 图谱在所有人群样本中均由单倍型表示，从而将多样性值提高到最大理论值。AMOVA 结果似乎更强烈地依赖于所使用的人群样本数量，意大利的人群间方差范围为 2.82%至 11.03%（分别使用 15 个和 32 个意大利人群样本）。方差在意大利内部的地理分布上并没有那么明显，尽管众所周知，在方差的分布中，纬度比经度更为重要。结果还表明，意大利的分层程度低于其他欧洲样本。本研究有助于丰富 Y 染色体数据库，提供高分辨率 Y 染色体数据集，并证明扩展的 Y-STR 图谱大大提高了法医学个体识别的鉴别能力。
