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人类精子减数分裂重组产物的分析。

Analysis of meiotic recombination products from human sperm.

作者信息

Kauppi Liisa, May Celia A, Jeffreys Alec J

机构信息

Memorial Sloan-Kettering Cancer Center, New York, NY, USA.

出版信息

Methods Mol Biol. 2009;557:323-55. doi: 10.1007/978-1-59745-527-5_20.

Abstract

Traditional methods for surveying meiotic recombination in humans are limited to pedigree and linkage disequilibrium analyses. We have developed assays that allow the direct detection of crossover and gene conversion molecules in batches of sperm DNA. To date, we have characterized 26 recombination hotspots by allele-specific PCR and selectively amplified recombinant DNA molecules from these regions. These analyses have revealed that meiotic crossover hotspots in humans are highly localized and flanked by DNA segments where recombination is suppressed. The centers of crossover hotspots are also active in noncrossover recombination, displaying short conversion tracts.

摘要

传统的人类减数分裂重组检测方法仅限于系谱分析和连锁不平衡分析。我们开发了一些检测方法,可直接在批量精子DNA中检测交叉和基因转换分子。迄今为止,我们已通过等位基因特异性PCR鉴定了26个重组热点,并从这些区域选择性扩增了重组DNA分子。这些分析表明,人类减数分裂交叉热点高度定位,且两侧是重组受到抑制的DNA片段。交叉热点的中心在非交叉重组中也很活跃,表现出短的转换片段。

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