一种估算小型多基因家族中突变、基因转换和重组参数的方法。
A method for estimating the mutation, gene conversion and recombination parameters in small multigene families.
作者信息
Innan Hideki
机构信息
Department of Biological Science, University of Southern California, Los Angeles, California 90089-1340, USA.
出版信息
Genetics. 2002 Jun;161(2):865-72. doi: 10.1093/genetics/161.2.865.
A simple two-locus gene conversion model is considered to investigate the amounts of DNA variation and linkage disequilibrium in small multigene families. The exact solutions for the expectations and variances of the amounts of variation within and between two loci are obtained. It is shown that gene conversion increases the amount of variation within each locus and decreases the amount of variation between two loci. The expectation and variance of the amount of linkage disequilibrium are also obtained. Gene conversion generates positive linkage disequilibrium and the degree of linkage disequilibrium decreases as the recombination rate is increased. Using the theoretical results, a method for estimating the mutation, gene conversion, and recombination parameters is developed and applied to the data of the Amy multigene family in Drosophila melanogaster. The gene conversion rate is estimated to be approximately 60-165 times higher than the mutation rate for synonymous sites.
为了研究小型多基因家族中的DNA变异量和连锁不平衡，我们考虑了一个简单的双位点基因转换模型。得到了两个位点内和位点间变异量的期望和方差的精确解。结果表明，基因转换增加了每个位点内的变异量，减少了两个位点间的变异量。还得到了连锁不平衡量的期望和方差。基因转换产生正的连锁不平衡，并且连锁不平衡程度随着重组率的增加而降低。利用这些理论结果，我们开发了一种估计突变、基因转换和重组参数的方法，并将其应用于黑腹果蝇Amy多基因家族的数据。估计基因转换率比同义位点的突变率高约60 - 165倍。
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