Persichetti F, Blasi P, Hammer M, Malaspina P, Jodice C, Terrenato L, Novelletto A
Department of Biology, University of Rome Tor Vergata, Italy.
Ann Hum Genet. 1992 Oct;56(4):303-10. doi: 10.1111/j.1469-1809.1992.tb01157.x.
We characterized four DNA polymorphisms on the Y chromosomes of 123 males from five Caucasian populations. Three markers on the male specific portion of the chromosome varied appreciably in frequency among the populations. When combined, these markers define a limited number of haplotypes compared with the maximum expected on the basis of random association. The associations found in the five groups are qualitatively similar and are thus considered to be relatively stable on an evolutionary time-scale and possibly to predate the divergence of Caucasian populations. However, the haplotype frequencies varied markedly among populations, even between weakly isolated areas such as northern vs. southern Sardinia. This may indicate rapid progression towards fixation of alternative types of Y chromosomes. We also report data suggesting that the same associations no longer hold when examining a marker as close as 275 bp from the boundary of the pseudoautosomal region on the Y chromosome.
我们对来自五个高加索人群的123名男性的Y染色体上的四种DNA多态性进行了特征分析。染色体男性特异性部分的三个标记在各人群中的频率有明显差异。综合起来，与基于随机关联的最大预期相比，这些标记定义的单倍型数量有限。在这五个群体中发现的关联在性质上相似，因此被认为在进化时间尺度上相对稳定，并且可能早于高加索人群的分化。然而，单倍型频率在不同人群中差异显著，即使在像撒丁岛北部和南部这样隔离程度较弱的地区之间也是如此。这可能表明朝着Y染色体替代类型的固定快速发展。我们还报告了数据，表明在检查距离Y染色体假常染色体区域边界近至275 bp的一个标记时，相同的关联不再成立。
