Chromosome mapping of Y chromosomal STR DYS385 loci

我们开发了一种Y染色体连锁同源DYS 385位点基因分型的方法，结合位点特异性PCR扩增和以前报道的程序。重复的DYS 385 a（5'端）和DYS 385 b（3'端）末端）基因座在Y染色体上相距约41 K bp，相互倒置，在每个基因座的上游和下游424 bp处发现序列差异。基因座特异性扩增使用设计用于该基因间区域的引物进行，并产生长度约900 bp的片段。根据先前报道的程序对PCR产物中的多态性四核苷酸阵列进行分型。使用该方法对20名男性受试者进行基因分型。在DYS 385 a基因座上检测到等位基因（GAAA）_13 ~（GAAA）_21，在DYS 385 b基因座上检测到等位基因（GAAA）_9 ~（GAAA）_15。DYS 385 a等位基因（不包括相同阵列的等位基因）在同一受试者中总是大于DYS 385 b等位基因。结果表明，DYS 385 a和DYS 385 b基因座可完全扩增，并可用于鉴别，其等位基因的基因型可为法医学和群体遗传学研究提供有用的信息。

We developed a method for genotyping Y chromosome-linked homologous DYS385 loci individually, combining locus-specific PCR amplification and previously reported procedures. Duplicated DYS385a (5' -end) and DYS385b (3' ?end) loci were located about 41K bp apart and inverted to each other in the Y chromosome, which data was obtained from the human genome sequence in NCBI, and sequence differences were found at 424 bp down- and upstream of each locus. The locus-specific amplifications were performed using primers designed for this intergenic region, and fragments about 900 bp in length were produced. Polymorphic tetranucleotide arrays in the PCR products were typed according to procedures reported previously. Twenty male subjects were genotyped using this method. Alleles (GAAA)_13 to (GAAA)_21 were observed at the DYS385a locus, and those at DYS385b included alleles (GAAA)_9 to (GAAA)_15. DYS385a alleles, excluding those of identical arrays, were always larger than DYS385b alleles in the same subjects. These data suggest that the DYS385a and DYS385b loci can be amplified completely for discrimination, and the genotypes of the alleles provide information useful for forensic case work and population genetics.