Hurles M E, Irven C, Nicholson J, Taylor P G, Santos F R, Loughlin J, Jobling M A, Sykes B C
Department of Genetics, University of Leicester, UK.
Am J Hum Genet. 1998 Dec;63(6):1793-806. doi: 10.1086/302147.
We have used Y-chromosomal polymorphisms to trace paternal lineages in Polynesians by use of samples previously typed for mtDNA variants. A genealogical approach utilizing hierarchical analysis of eight rare-event biallelic polymorphisms, seven microsatellite loci, and internal structural analysis of the hypervariable minisatellite, MSY1, has been used to define three major paternal-lineage clusters in Polynesians. Two of these clusters, both defined by novel MSY1 modular structures and representing 55% of the Polynesians studied, are also found in coastal Papua New Guinea. Reduced Polynesian diversity, relative to that in Melanesians, is illustrated by the presence of several examples of identical MSY1 codes and microsatellite haplotypes within these lineage clusters in Polynesians. The complete lack of Y chromosomes having the M4 base substitution in Polynesians, despite their prevalence (64%) in Melanesians, may also be a result of the multiple bottleneck events during the colonization of this region of the world. The origin of the M4 mutation has been dated by use of two independent methods based on microsatellite-haplotype and minisatellite-code diversity. Because of the wide confidence limits on the mutation rates of these loci, the M4 mutation cannot be conclusively dated relative to the colonization of Polynesia, 3,000 years ago. The other major lineage cluster found in Polynesians, defined by a base substitution at the 92R7 locus, represents 27% of the Polynesians studied and, most probably, originates in Europe. This is the first Y-chromosomal evidence of major European admixture with indigenous Polynesian populations and contrasts sharply with the picture given by mtDNA evidence.
我们利用Y染色体多态性，通过此前已对线粒体DNA（mtDNA）变体进行分型的样本，来追踪波利尼西亚人的父系血统。一种谱系学方法被用于定义波利尼西亚人的三个主要父系血统集群，该方法利用了对8个罕见事件双等位基因多态性、7个微卫星位点的分层分析，以及对高变微卫星MSY1的内部结构分析。其中两个集群，均由新型MSY1模块结构定义，占所研究波利尼西亚人的55%，在巴布亚新几内亚沿海地区也有发现。波利尼西亚人相对于美拉尼西亚人的多样性降低，体现在这些血统集群内存在多个相同的MSY1编码和微卫星单倍型实例。尽管M4碱基替换在美拉尼西亚人中很普遍（64%），但在波利尼西亚人中完全没有Y染色体携带该替换，这也可能是该地区殖民过程中多次瓶颈事件的结果。M4突变的起源已通过基于微卫星单倍型和微卫星编码多样性的两种独立方法进行了测定。由于这些位点突变率的置信区间较宽，相对于3000年前波利尼西亚的殖民时期，无法确定M4突变的确切年代。在波利尼西亚人中发现的另一个主要血统集群，由92R7位点的碱基替换定义，占所研究波利尼西亚人的27%，很可能起源于欧洲。这是欧洲人与波利尼西亚本土人群大量混合的首个Y染色体证据，与线粒体DNA证据所呈现的情况形成鲜明对比。
