Excavating Y-chromosome haplotype strata in Anatolia
Excavating Y-chromosome haplotype strata in Anatolia
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DOI：
10.1007/s00439-003-1031-4
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发表时间：
2004-01-01
期刊：
影响因子：
5.3
通讯作者：
Underhill, PA
中科院分区：
文献类型：
--
作者：
Cinnioglu, C;King, R;Underhill, PA
对523个土耳其Y染色体上的89个双等位基因多态性进行分析，揭示出52种不同的单倍型，其具有相当大的单倍群亚结构，这从它们在10个短串联重复（STR）位点上各自积累的多样性水平就可以看出。主要成分（单倍群E3b、G、J、I、L、N、K2和R1；占94.1%）与欧洲和邻近的近东人群共享，与之形成对比的是，只有一小部分单倍群与中亚（C、Q和O；占3.4%）、印度（H、R2；占1.5%）和非洲（A、E3*、E3a；占1%）有亲缘关系。根据相关的STR多样性估计了20个单倍群组合的扩张时间。这种对Y染色体遗传特征的全面描述涉及安纳托利亚史前史的许多方面，包括：（1）最常见的单倍群J分为两个亚分支，其中一个（J2）的方差随着纬度的增加而减小，这与向北扩张相符；（2）单倍群G1和L在地理分布以及STR基序方面与南高加索人群有亲缘关系；（3）起源于欧洲的单倍群I的频率随着经度的增加而降低，表明基因流来自欧洲；（4）相反，单倍群G2向欧洲辐射；（5）单倍群E3b3呈现出与向北频率降低相关的纬度相关性；（6）单倍群R1b3从土耳其向东南欧和高加索地区扩散；（7）高分辨率单核苷酸多态性（SNP）分析提供了一个可检测但微弱信号的证据（
Analysis of 89 biallelic polymorphisms in 523 Turkish Y chromosomes revealed 52 distinct haplotypes with considerable haplogroup substructure, as exemplified by their respective levels of accumulated diversity at ten short tandem repeat (STR) loci. The major components (haplogroups E3b, G, J, I, L, N, K2, and R1; 94.1%) are shared with European and neighboring Near Eastern populations and contrast with only a minor share of haplogroups related to Central Asian (C, Q and O; 3.4%), Indian (H, R2; 1.5%) and African (A, E3*, E3a; 1%) affinity. The expansion times for 20 haplogroup assemblages was estimated from associated STR diversity. This comprehensive characterization of Y-chromosome heritage addresses many multifaceted aspects of Anatolian prehistory, including: (1) the most frequent haplogroup, J, splits into two sub-clades, one of which (J2) shows decreasing variances with increasing latitude, compatible with a northward expansion; (2) haplogroups G1 and L show affinities with south Caucasus populations in their geographic distribution as well as STR motifs; (3) frequency of haplogroup I, which originated in Europe, declines with increasing longitude, indicating gene flow arriving from Europe; (4) conversely, haplogroup G2 radiates towards Europe; (5) haplogroup E3b3 displays a latitudinal correlation with decreasing frequency northward; (6) haplogroup R1b3 emanates from Turkey towards Southeast Europe and Caucasia and; (7) high resolution SNP analysis provides evidence of a detectable yet weak signal (