Malaspina P, Cruciani F, Ciminelli B M, Terrenato L, Santolamazza P, Alonso A, Banyko J, Brdicka R, García O, Gaudiano C, Guanti G, Kidd K K, Lavinha J, Avila M, Mandich P, Moral P, Qamar R, Mehdi S Q, Ragusa A, Stefanescu G, Caraghin M, Tyler-Smith C, Scozzari R, Novelletto A
Department of Biology, University of Rome "Tor Vergata," Carnevale, Rome, Italy.
Am J Hum Genet. 1998 Sep;63(3):847-60. doi: 10.1086/301999.
In a study of 908 males from Europe, northern Africa, and western Asia, the variation of four Y-linked dinucleotide microsatellites was analyzed within three "frames" that are defined by mutations that are nonrecurrent, or nearly so. The rapid generation and extinction of new dinucleotide length variants causes the haplotypes within each lineage to diverge from one another. We constructed networks of "adjacent" haplotypes within each frame, by assuming changes of a single dinucleotide unit. Two small and six large networks were obtained, the latter including 94.9% of the sampled Y chromosomes. We show that the phenetic relationships among haplotypes, represented as a network, result largely from common descent and subsequent molecular radiation. The grouping of haplotypes of the same network thus fits an evolutionarily relevant criterion. Notably, this method allows the total diversity within a sample to be partitioned. Networks can be considered optimal markers for population studies, because reliable frequency estimates can be obtained in small samples. We present synthetic maps describing the incidence of different Y-chromosomal lineages in the extant human populations of the surveyed areas. Dinucleotide diversity also was used to infer time intervals for the coalescence of each network.
在一项针对来自欧洲、北非和西亚的908名男性的研究中,分析了四个Y连锁二核苷酸微卫星在三个“框架”内的变异情况,这些框架由非重复性或几乎非重复性的突变所定义。新的二核苷酸长度变异的快速产生和消失导致每个谱系内的单倍型相互分化。我们通过假设单个二核苷酸单位的变化,构建了每个框架内“相邻”单倍型的网络。得到了两个小网络和六个大网络,后者包含了94.9%的抽样Y染色体。我们表明,以网络形式表示的单倍型之间的表型关系很大程度上源于共同祖先和随后的分子辐射。因此,同一网络中单倍型的分组符合一个与进化相关的标准。值得注意的是,这种方法允许对样本内的总多样性进行划分。网络可被视为群体研究的最佳标记,因为在小样本中也能获得可靠的频率估计。我们展示了描述被调查地区现存人类群体中不同Y染色体谱系发生率的综合地图。二核苷酸多样性还被用于推断每个网络合并的时间间隔。