Strong correlation between meiotic crossovers and haplotype structure in a 2.5-Mb region on the long arm of chromosome 21
Strong correlation between meiotic crossovers and haplotype structure in a 2.5-Mb region on the long arm of chromosome 21
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DOI：
10.1101/gr.4641706
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发表时间：
2006-02-01
期刊：
影响因子：
7
通讯作者：
Li, HH
中科院分区：
文献类型：
--
作者：
Greenawalt, DM;Cui, XF;Li, HH
虽然人类基因组的单倍型结构已经被研究得非常详细，但对其形成的机制知之甚少。为了研究减数分裂重组油单倍型块形成的作用，从人21号染色体的2.5-Mb区域以高密度选择单核苷酸多态性。通过对662个单精子的高通量多重基因分型直接分析减数分裂重组，鉴定出41个重组体。交叉非随机分布在16个小区域内。除了一个，所有这些交叉落在单倍型结构表现出故障的地区，显示了强有力的统计学正相关交叉和单倍型块之间的关联。数据还表明该区域内重组热点的特定聚类分布。这一发现支持了减数分裂重组对人类基因组单倍型块形成的主要贡献的假设。
Although the haplotype structure of the human genome has been studied in great detail, very little is known about the mechanisms underlying its formation. To investigate the role of meiotic recombination oil haplotype block formation, single nucleotide polymorphisms were selected at a high density from a 2.5-Mb region of human chromosome 21. Direct analysis of meiotic recombination by high-throughput multiplex genotyping of 662 single sperm identifies 41 recombinants. The crossovers were nonrandomly distributed within 16 small areas. All, except one, of these crossovers fall in areas where the haplotype structure exhibits breakdown, displaying a strong statistically positive association between crossovers and haplotype block breaks. The data also indicate a particular clustered distribution of recombination hotspots within the region. This finding supports the hypothesis that meiotic recombination makes a primary contribution to haplotype block formation in the human genome.