Alves Cíntia, Gomes Verónica, Prata Maria João, Amorim António, Gusmão Leonor
Institute of Pathology and Molecular Immunology of the University of Porto (IPATIMUP), Rua Dr. Roberto Frias s/n, 4200-465 Porto, Portugal.
Forensic Sci Int. 2007 Sep 13;171(2-3):250-5. doi: 10.1016/j.forsciint.2006.10.022. Epub 2007 Feb 15.
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, DYS385, DYS437, DYS438, DYS439, DYS448, DYS456, DYS458, DYS635 and GATA H4.1) were typed in 250 samples from Portugal. A total of 231 different haplotypes were found, where 17 haplotypes were shared by two individuals and one haplotype by three. The overall haplotype diversity (HD) was 0.9994. DYS458 non-consensus alleles found in 5 samples (out of 85) are all associated with paragroup J*(xJ1,2). Population comparisons with available Yfiler loci data in European samples were undertaken, namely with Northern Portuguese data (N=174) where no significant differences were observed with our sample (Rst=0.0000; P=0.8649+/-0.0310). Since both Portuguese databases can be joined (N=424; HD=0.9997; 394 distinct haplotypes), a study on the best loci for HD increment in this sample was also undertaken: by fixing the haplotypes generated from the minimal haplotype and SWGDAM core set (www.yhrd.org) and adding the other Yfiler loci one by one, the order in which the loci contribute more is DYS458, DYS456, GATA H4.1, DYS437 or DYS635, and finally DYS448. Therefore, at least in this population sample, all Yfiler loci are contributing for haplotype discrimination.
对包含在AmpFlSTR YFiler扩增试剂盒(AB应用生物系统公司)中的17个Y染色体短串联重复序列(STR)(DYS19、DYS389I、DYS389II、DYS390、DYS391、DYS392、DYS393、DYS385、DYS437、DYS438、DYS439、DYS448、DYS456、DYS458、DYS635和GATA H4.1)在来自葡萄牙的250个样本中进行分型。共发现231种不同的单倍型,其中17种单倍型由两个人共享,一种单倍型由三个人共享。总体单倍型多样性(HD)为0.9994。在85个样本中的5个样本中发现的DYS458非一致性等位基因均与旁系群J*(xJ1,2)相关。与欧洲样本中可用的Yfiler基因座数据进行了群体比较,即与葡萄牙北部数据(N = 174)进行比较,在我们的样本中未观察到显著差异(Rst = 0.0000;P = 0.8649±0.0310)。由于两个葡萄牙数据库可以合并(N = 424;HD = 0.9997;394种不同的单倍型),因此还对该样本中增加HD的最佳基因座进行了研究:通过固定由最小单倍型和SWGDAM核心集(www.yhrd.org)生成的单倍型,并逐一添加其他Yfiler基因座,基因座贡献更大的顺序为DYS458、DYS456、GATA H4.1、DYS437或DYS635,最后是DYS448。因此,至少在这个群体样本中,所有Yfiler基因座都有助于单倍型鉴别。