Inserm, U946, Paris, France.
Eur J Hum Genet. 2011 May;19(5):583-7. doi: 10.1038/ejhg.2010.205. Epub 2011 Mar 2.
Inbreeding coefficients and consanguineous mating types are usually inferred from population surveys or pedigree studies. Here, we present a method to estimate them from dense genome-wide single-nucleotide polymorphism genotypes and apply it to 940 unrelated individuals from the Human Genome Diversity Panel (HGDP-CEPH). Inbreeding is observed in almost all populations of the panel, and the highest inbreeding levels and frequencies of inbred individuals are found in populations of the Middle East, Central South Asia and the Americas. In these regions, first cousin (1C) marriages are the most frequent, but we also observed marriages between double first cousins (2 × 1C) and between avuncular (AV) pairs. Interestingly, if 2 × 1C marriages are preferred to AV marriages in Central South Asia and the Middle East, the contrary is found in the Americas. There are thus some regional trends but there are also some important differences between populations within a region. Individual results can be found on the CEPH website at ftp://ftp.cephb.fr/hgdp_hbd/.
近交系数和近亲交配类型通常是从群体调查或系谱研究中推断出来的。在这里，我们提出了一种从密集的全基因组单核苷酸多态性基因型中估计它们的方法，并将其应用于人类基因组多样性面板（HGDP-CEPH）中的 940 个无关个体。在面板的几乎所有群体中都观察到了近交，近交水平最高和近交个体频率最高的群体是中东、中南亚和美洲的群体。在这些地区，表亲（1C）婚姻最为常见，但我们也观察到了双重表亲（2 × 1C）和叔伯（AV）之间的婚姻。有趣的是，如果在中南亚和中东地区，2 × 1C 婚姻比 AV 婚姻更受欢迎，那么在美洲则相反。因此，存在一些地区趋势，但在一个地区内的不同群体之间也存在一些重要差异。个体结果可在 CEPH 网站上的 ftp://ftp.cephb.fr/hgdp_hbd/ 找到。
