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基于单精子分型的人类拟常染色体区域多点连锁图谱:男性减数分裂期间会发生双交换吗?

Multipoint linkage map of the human pseudoautosomal region, based on single-sperm typing: do double crossovers occur during male meiosis?

作者信息

Schmitt K, Lazzeroni L C, Foote S, Vollrath D, Fisher E M, Goradia T M, Lange K, Page D C, Arnheim N

机构信息

Department of Biological Sciences, University of Southern California, Los Angeles 90089-1340.

出版信息

Am J Hum Genet. 1994 Sep;55(3):423-30.

Abstract

Sperm typing was used to measure recombination fractions among pseudoautosomal markers and the beginning of the X/Y-specific sequences located at the pseudoautosomal boundary. These experiments included primer-extension preamplification and PCR followed by allele typing using gel electrophoresis. A newly developed data-analysis program allowed the construction of the first multipoint-linkage sperm-typing map, using results obtained on seven loci from three individuals. The large sample size not only confirmed the increased recombination activity of the pseudoautosomal region but allowed an estimate of interference of recombination to be made. The coefficient of coincidence was calculated to be .26 over a physical distance of only approximately 1,800 kb. The observation of a few sperm presumably resulting from double recombination argues that more than one crossover event can occur in this region during male meiosis.

摘要

精子分型被用于测量假常染色体标记之间以及位于假常染色体边界的X/Y特异性序列起始处的重组率。这些实验包括引物延伸预扩增和聚合酶链反应(PCR),随后使用凝胶电泳进行等位基因分型。一个新开发的数据分析程序利用从三个个体的七个基因座获得的结果构建了首个多点连锁精子分型图谱。大样本量不仅证实了假常染色体区域重组活性的增加,还使得对重组干扰进行估计成为可能。在仅约1800 kb的物理距离上,并发系数计算为0.26。观察到一些可能由双重组产生的精子表明,在雄性减数分裂期间该区域可能发生不止一次交叉事件。

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