Qamar R, Ayub Q, Khaliq S, Mansoor A, Karafet T, Mehdi S Q, Hammer M F
Biomedical and Genetic Engineering Division, Khan Research Laboratories, Islamabad, Pakistan.
Hum Biol. 1999 Oct;71(5):745-55.
We surveyed 9 Pakistani subpopulations for variation on the nonrecombining portion of the Y chromosome. The polymorphic systems examined were the Y-chromosome Alu insertion polymorphism (YAP) at DYS287, 5 single nucleotide polymorphisms, and the tetranucleotide microsatellite DYS19. Y chromosomes carrying the YAP element (YAP+) were found in populations from southwestern Pakistan at frequencies ranging from 2% to 8%, whereas northeastern populations appeared to lack YAP+ chromosomes. In contrast to other South Asian populations, several Pakistani subpopulations had a high frequency of the DYS19*B allele, the most frequent allele in West Asian, North African, and European populations. The combination of alleles at all polymorphic sites gave rise to 9 YAP-DYS19 combination haplotypes in Pakistani populations, including YAP+ haplotypes 4-A, 4-B, 5-C, and 5-E. We hypothesize that the geographic distributions of YAP+ haplotypes 4 and 5 trace separate migratory routes to Pakistan: YAP+ haplotype 5 may have entered Pakistan from the Arabian Peninsula by means of migrations across the Gulf of Oman, whereas males possessing YAP+ haplotype 4 may have traveled over land from the Middle East. These inferences are consistent with ethnohistorical data suggesting that Pakistan's ethnic groups have been influenced by migrations from both African and Levantine source populations.
我们调查了9个巴基斯坦亚群体，以研究Y染色体非重组部分的变异情况。所检测的多态系统包括位于DYS287的Y染色体Alu插入多态性（YAP）、5个单核苷酸多态性以及四核苷酸微卫星DYS19。在巴基斯坦西南部人群中发现携带YAP元件（YAP+）的Y染色体，频率在2%至8%之间，而东北部人群似乎缺乏YAP+染色体。与其他南亚人群不同，几个巴基斯坦亚群体中DYS19*B等位基因的频率较高，该等位基因在西亚、北非和欧洲人群中最为常见。所有多态位点的等位基因组合在巴基斯坦人群中产生了9种YAP - DYS19组合单倍型，包括YAP+单倍型4 - A、4 - B、5 - C和5 - E。我们推测，YAP+单倍型4和5的地理分布追溯到了不同的向巴基斯坦的迁徙路线：YAP+单倍型5可能通过跨越阿曼湾的迁徙从阿拉伯半岛进入巴基斯坦，而拥有YAP+单倍型4的男性可能从中东陆路而来。这些推断与民族历史数据一致，表明巴基斯坦的族群受到了来自非洲和黎凡特源人群迁徙的影响。
