Fundamental examination of repeat structure of the Y chromosome STR locus

最近描述的Y短串联重复序列（Y-STR）多态性可以作为信息单倍型进行分析，这在法医学领域是有用的。为了将这些系统纳入法医学常规，对DYS 19、DYS 389 I、DYS 389 II、DYS 390、DYS 391、DYS 392和DYS 393的7种范围（位点）进行了序列分析。DYS 389 Ⅰ、DYS 389 Ⅱ、DYS 390和DYS 393表现为两种不同单位不规则地相互混合的重复。我们利用8个Y-STR基因座的数据，对一起父亲死亡的亲子关系纠纷进行了调查（DYS 19、DYS 389 I、DYS 389 II、DYS 390、DYS 391、DYS 392、DYS 393和DYS 385：两个基因座）。对每个系统（DYS 385除外）的各种等位基因进行测序。在8个Y-STR中，两个婚生子女和已故推定父亲的另一个子女携带相同的等位基因。本研究展示了Y-STR的结构和Y-STR分型作为解决此类案件的工具的力量。

Recently described Y short tandem repeat (Y-STR) polymorphisms can be analyzed as informative haplotypes, which are useful in the forensic field. In order to include these systems in our forensic routine, sequence analysis was conducted about the 7 kinds of range (the locus) of DYS19, DYS389 I, DYS389 II, DYS390, DYS391, DYS392 and DYS393.DYS391 showed the repetition of unique, simple unit. DYS389 I, DYS389 II, DYS390 and DYS393 showed the repetition that irregularly, 2 kinds of different units, were mixed each other. Furthermore, there was the insertion of a special arrangement in the font or middle of the unit which DYS19 and DYS392 were decide.We have investigated a case of disputed paternity where the alleged father was dead, using data from the surviving children for eight Y-STR loci (DYS19, DYS389 I, DYS389 II, DYS390, DYS391, DYS392, DYS393 and DYS385: two loci). Various alleles for each system (except DYS385) were sequenced. In the eight Y-STRs both the two legitimate children and a further additional child of the deceased putative father carried the same allele. The present study demonstrates the structure of Y-STRs and the power of Y-STR typing as a tool for solving this kind of case.