Kehdy F S G, Pena S D J
Departamento de Bioquímica e Imunologia, Universidade Federal de Minas Gerais, Belo Horizonte, MG, Brasil.
Genet Mol Res. 2010 Aug 3;9(3):1525-34. doi: 10.4238/vol9-3gmr968.
Of all DNA markers on the human Y-chromosome, the tetra-local Y-linked microsatellite DYS464 is the most polymorphic. We genotyped DYS464 in 677 male samples collected worldwide, maintained in the HGDP-CEPH Human Genome Diversity Cell Line Panel. Fourteen different alleles were found, with allele lengths varying from 9 to 23 repeats. One hundred and seventy-five different genotypes were detected, of which 90 appeared to be continent-specific. The region with the highest percentage of unique genotypes was Africa. Genotype diversity was 0.98 for Europe, 0.97 for Central and East Asia, 0.95 for Africa, 0.94 for Oceania, 0.92 for the Middle East, and 0.90 for the Americas. A hierarchical analysis of molecular variance showed low levels of worldwide genetic structure; 88.42% of the genetic variance was found within populations, 9.62% between populations within regions and 1.96% between regions. Since the four DYS464 repeats are identical, one cannot assign each peak in the electropherogram to a specific locus. Thus, the same genotype may correspond to several haplotypes, with different permutations of alleles. Consequently, genotypes are degenerate, which limits phylogeographical analyses. Yet, because of its high variability, DYS464 still constitutes an informative tool for population and evolutionary studies.
在人类Y染色体上的所有DNA标记中，四定位Y连锁微卫星DYS464是多态性最高的。我们对保存在HGDP-CEPH人类基因组多样性细胞系面板中的全球收集的677个男性样本进行了DYS464基因分型。发现了14种不同的等位基因，等位基因长度从9到23个重复不等。检测到175种不同的基因型，其中90种似乎是特定大陆的。独特基因型比例最高的地区是非洲。欧洲的基因型多样性为0.98，中亚和东亚为0.97，非洲为0.95，大洋洲为0.94，中东为0.92，美洲为0.90。分子方差的层次分析表明全球遗传结构水平较低；88.42%的遗传方差存在于群体内部，9.62%存在于区域内群体之间，1.96%存在于区域之间。由于DYS464的四个重复序列相同，无法将电泳图中的每个峰分配到特定位点。因此，相同的基因型可能对应于几种单倍型，等位基因有不同的排列。因此，基因型是简并的，这限制了系统地理学分析。然而，由于其高变异性，DYS464仍然是群体和进化研究的一个信息丰富的工具。
