Barbujani Guido, Belle Elise M S
Dipartimento di Biologia, Università di Ferrara, Ferrara, Italy.
Hum Hered. 2006;61(1):15-21. doi: 10.1159/000091832. Epub 2006 Mar 7.
Different authors disagree on whether human genome variation should be described as continuous or discontinuous; in the latter case, by attributing an individual's genotype to one genetic cluster, one would also obtain information on the individual's genome in general. An analysis of 377 microsatellites of the CEPH human diversity panel was interpreted as evidence that most genotypes cluster into one of five distinct groups, approximately corresponding to continents, which were pro- posed by some authors as the major biological subdivisions of humankind. Here we analyse the same dataset by a specific numerical method, designed to detect genomic boundaries, i.e. zones of increased change in maps of genomic variation. We show that statistically significant boundaries can be described between groups of populations, but different clusters are identified, depending on the assumptions of the model. In addition, these clusters do not correspond to the clusters inferred from previous analyses of the same or of other polymorphisms. We conclude that it is indeed possible to cluster genotypes according to geography, but no study so far identified unambiguously anything that can be regarded as a major genetic subdivision of humankind, and hence discontinuous models of human diversity are unsupported by data.
不同作者对于人类基因组变异应被描述为连续的还是不连续的存在分歧;在后一种情况下,通过将个体的基因型归为一个基因簇,人们通常也能获得该个体基因组的信息。对CEPH人类多样性样本的377个微卫星的分析被解释为这样的证据:大多数基因型聚集成五个不同群体之一,大致对应于各大洲,一些作者将这些群体视为人类主要的生物学亚群。在此,我们通过一种专门设计用于检测基因组边界(即基因组变异图谱中变化增加的区域)的特定数值方法来分析同一数据集。我们表明,在人群组之间可以描述出具有统计学意义的边界,但根据模型假设会识别出不同的簇。此外,这些簇与之前对相同或其他多态性的分析所推断出的簇并不对应。我们得出结论,确实有可能根据地理因素对基因型进行聚类,但迄今为止,尚无研究能明确识别出任何可被视为人类主要遗传亚群的事物,因此人类多样性的不连续模型缺乏数据支持。