Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography
Detection of numerous Y chromosome biallelic polymorphisms by denaturing high-performance liquid chromatography
复制标题
用变性高效液相色谱法检测大量 Y 染色体双倍型多态性
DOI：
10.1101/gr.7.10.996
复制
发表时间：
1997-10-01
期刊：
影响因子：
7
通讯作者：
Oefner, PJ
中科院分区：
文献类型：
--
作者：
Underhill, PA;Jin, L;Oefner, PJ
Y染色体单倍型在解读人类进化史方面特别有用，因为它们强调了漂移，迁移和范围扩张的影响。通过实施称为变性高效液相色谱（DHPLC）的创新且具有成本效益的方法，已经实现了Y双等位基因标记发现和随后涉及异源双链体检测的分型的显著加速。该方法的能力在于其灵敏度和以自动化方式快速比较扩增序列的能力。我们已经确定了22个Y多态性的等位基因状态，其中19个是未报告的，在718个不同的现存染色体，建立单倍型频率，并推断出一个同源性。所有主要的地理区域，包括欧亚大陆，其特征在于反映遗传漂变和扩张的突变。大多数双等位基因标记是区域性的。然而，一些显示更广泛的分散和指定的老，核心单倍型。一个颠换定义了一个主要的单倍群，区分一个以前未知的深，显然非非洲分支。它提供了古代瓶颈事件的证据。现在，我们有可能根据几十甚至几百个重要的多态性来预测人类Y染色体谱系的不可避免的详细重建。
Y chromosome haplotypes are particularly useful in deciphering human evolutionary history because they accentuate the effects of drift, migration, and range expansion. Significant acceleration of Y biallelic marker discovery and subsequent typing involving heteroduplex detection has been achieved by implementing an innovative and cost-efficient method called denaturing high-performance liquid chromatography (DHPLC). The power of the method resides in its sensitivity and ability to rapidly compare amplified sequences in an automated manner. We have determined the allelic states of 22 Y polymorphisms; 19 of which are unreported, in 718 diverse extant chromosomes; established haplotype frequencies; and deduced a phylogeny. All major geographic regions, including Eurasia, are characterized by mutations reflecting episodes of genetic drift and expansion, Most biallelic markers are localized regionally. However, some show wider dispersal and designate older, core haplotypes. One transversion defines a major haplogroup that distinguishes a previously unknown deep, apparently non-African branch. It provides evidence of an ancient bottleneck event. It is now possible to anticipate the inevitable detailed reconstruction of human Y chromosome genealogy based on several tens to even hundreds of these important polymorphisms.