Forster P, Kayser M, Meyer E, Roewer L, Pfeiffer H, Benkmann H, Brinkmann B
Institute of Legal Medicine, University of Münster, Germany.
Mol Biol Evol. 1998 Sep;15(9):1108-14. doi: 10.1093/oxfordjournals.molbev.a026018.
Y-chromosomal short tandem repeats (STRs) are used for the study of male aspects of human evolution as well as for forensic applications and paternity testing. Both applications require an understanding of the underlying mutational mechanisms that create variability. We describe complex mutations at the substructured DYS390 STR locus in 97 natives of the New Guinea/Australian region. Sequencing of short alleles in these populations indicates multirepeat deletions. All samples are further characterized using the five additional Y-STR loci DYS19, DXYS156-Y, DYS391, DYS392, and DYS393. Phylogenetic analysis of the resulting haplotypes yields ethnically specific clusters predating the settlement of Australia and Papua New Guinea (although archaic Homo sapiens or Homo erectus lineages are absent). The phylogeny confirms that DYS390 violates the stepwise mutation model and demonstrates that the DYS390 locus mutates relatively rapidly and retains its variability after structural change.
Y染色体短串联重复序列（STRs）用于研究人类进化中的男性方面，以及法医应用和亲子鉴定。这两种应用都需要了解产生变异性的潜在突变机制。我们描述了新几内亚/澳大利亚地区97名当地人中结构化DYS390 STR位点的复杂突变。对这些人群中的短等位基因进行测序表明存在多重复缺失。所有样本进一步使用另外五个Y-STR位点DYS19、DXYS156-Y、DYS391、DYS392和DYS393进行特征分析。对所得单倍型的系统发育分析产生了在澳大利亚和巴布亚新几内亚定居之前的特定种族聚类（尽管不存在古老的智人或直立人谱系）。系统发育证实DYS390违反了逐步突变模型，并表明DYS390位点突变相对较快，且在结构变化后仍保留其变异性。
