Bianchi N O, Bailliet G, Bravi C M, Carnese R F, Rothhammer F, Martínez-Marignac V L, Pena S D
IMBICE, Argentina.
Am J Phys Anthropol. 1997 Jan;102(1):79-89. doi: 10.1002/(SICI)1096-8644(199701)102:1<79::AID-AJPA7>3.0.CO;2-8.
We analysed the frequency of six Y-specific polymorphisms in 105 Amerindian males from seven different populations, 42 Caucasian males, and a small number of males of African, Chinese, and Melanesian origin. The combination of three of the six polymorphisms studied produced four different Y-haplogroups. The haplogroups A (non-variant) was the most frequent one. Eighty-five percent of Amerindians showing haplogroup A have the alphoid II (alpha hII) and the DYS19A Y-specific markers, an association that is found only in 10% of Caucasians and that has not been detected in Asiatics and Africans. Haplogroups C (YAP+) and D (YAP+ plus an A-->G transmission in the locus DYS271) are of African origin. Four percent of Amerindians and approximately 12% of Caucasians showed haplogroup C; approximately 1% of Amerindians and approximately 2% of Caucasians had haplogroup D. Haplogroup B is characterized by a C-->T transition in nucleotide position 373 of the SRY gene domain; this haplogroup is found in Caucasians (approximately 12%) and Amerindians (approximately 4%). None of the Amerindians exhibiting the haplogroups B, C, or D show the haplotype alpha hII/DYS19A. By haplotyping the the Alu insert and the DNA region surrounding the insert in YAP+ individuals, we could demonstrate that Amerindian Y chromosomes bearing African markers (haplogroups C and D) are due to recent genetic admixture. Most non-alpha hII/DYS19A Amerindian Y-chromosomes in haplogroup A and most cases in haplogroup B are also due to gene flow. We show that haplotype alpha hII/DYS19A is in linkage disequilibrium with a C-->T transition in the locus DYS19A. Our results suggest that most Amerindian Y-chromosomes derive from a single paternal lineage characterized by the alpha hII/DYS19A/DYS199T Amerindian-specific haplotype. The analysis of a larger sample of native American Y-chromosome will be required in order to confirm or correct this hypothesis.
我们分析了来自七个不同群体的105名美洲印第安男性、42名高加索男性以及少数非洲、中国和美拉尼西亚裔男性中六种Y染色体特异性多态性的频率。所研究的六种多态性中的三种组合产生了四种不同的Y单倍群。单倍群A（无变异）是最常见的。显示单倍群A的美洲印第安人中有85%具有α卫星II（αhII）和DYS19A Y染色体特异性标记，这种关联仅在10%的高加索人中发现，在亚洲人和非洲人中未被检测到。单倍群C（YAP+）和D（YAP+加上DYS271位点的A→G传递）起源于非洲。4%的美洲印第安人和大约12%的高加索人显示为单倍群C；大约1%的美洲印第安人和大约2%的高加索人具有单倍群D。单倍群B的特征是SRY基因域核苷酸位置373处的C→T转换；该单倍群在高加索人（约12%）和美洲印第安人（约4%）中被发现。表现出单倍群B、C或D的美洲印第安人都没有显示出αhII/DYS19A单倍型。通过对YAP+个体中的Alu插入片段和插入片段周围的DNA区域进行单倍型分析，我们可以证明携带非洲标记（单倍群C和D）的美洲印第安Y染色体是由于最近的基因混合。单倍群A中大多数非αhII/DYS19A美洲印第安Y染色体以及单倍群B中的大多数情况也是由于基因流动。我们表明，单倍型αhII/DYS19A与DYS19A位点的C→T转换处于连锁不平衡状态。我们的结果表明大多数美洲印第安Y染色体源自一个单一的父系谱系，其特征为αhII/DYS19A/DYS199T美洲印第安特异性单倍型。为了证实或修正这一假设，需要对更大样本的美洲原住民Y染色体进行分析。
