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拟南芥中连锁不平衡的程度。

The extent of linkage disequilibrium in Arabidopsis thaliana.

作者信息

Nordborg Magnus, Borevitz Justin O, Bergelson Joy, Berry Charles C, Chory Joanne, Hagenblad Jenny, Kreitman Martin, Maloof Julin N, Noyes Tina, Oefner Peter J, Stahl Eli A, Weigel Detlef

机构信息

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

出版信息

Nat Genet. 2002 Feb;30(2):190-3. doi: 10.1038/ng813. Epub 2002 Jan 7.

Abstract

Linkage disequilibrium (LD), the nonrandom occurrence of alleles in haplotypes, has long been of interest to population geneticists. Recently, the rapidly increasing availability of genomic polymorphism data has fueled interest in LD as a tool for fine-scale mapping, in particular for human disease loci. The chromosomal extent of LD is crucial in this context, because it determines how dense a map must be for associations to be detected and, conversely, limits how finely loci may be mapped. Arabidopsis thaliana is expected to harbor unusually extensive LD because of its high degree of selfing. Several polymorphism studies have found very strong LD within individual loci, but also evidence of some recombination. Here we investigate the pattern of LD on a genomic scale and show that in global samples, LD decays within approximately 1 cM, or 250 kb. We also show that LD in local populations may be much stronger than that of global populations, presumably as a result of founder events. The combination of a relatively high level of polymorphism and extensive haplotype structure bodes well for developing a genome-wide LD map in A. thaliana.

摘要

连锁不平衡(LD),即单倍型中等位基因的非随机出现,长期以来一直是群体遗传学家感兴趣的内容。最近,基因组多态性数据的迅速增加激发了人们对LD作为精细定位工具的兴趣,特别是用于人类疾病基因座的定位。在这种情况下,LD的染色体范围至关重要,因为它决定了为检测到关联图谱必须有多密集,反之,也限制了基因座能够定位的精细程度。由于自交程度高,预计拟南芥具有异常广泛的LD。多项多态性研究发现,在单个基因座内存在非常强的LD,但也有一些重组的证据。在这里,我们在基因组规模上研究了LD模式,结果表明,在全球样本中,LD在大约1厘摩(cM)或250千碱基(kb)范围内衰减。我们还表明,局部群体中的LD可能比全球群体中的LD强得多,这可能是奠基者效应的结果。相对高水平的多态性和广泛的单倍型结构相结合,预示着在拟南芥中开发全基因组LD图谱有良好的前景。

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