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单核苷酸多态性和微卫星标记的独特连锁不平衡(LD)区段;对基于LD的定位中混合标记单倍型使用的影响。

Distinct linkage disequilibrium (LD) runs of single nucleotide polymorphisms and microsatellite markers; implications for use of mixed marker haplotypes in LD-based mapping.

作者信息

Lee Kyung-A, Sohn Kwang-Min, Cho Seung-Hee, Hwang Hyokkee, Kim Sun Woo, Won Hong-Hee, Kim Hee-Jin, Kim Min Ji, Cho Sang Sun, Park Jun Hee, Kim Jong-Won

机构信息

Department of Laboratory Medicine, College of Medicine, Hallym University, Chunchon, Korea.

出版信息

J Korean Med Sci. 2007 Jun;22(3):425-30. doi: 10.3346/jkms.2007.22.3.425.

Abstract

It has been suggested that the haplotypic relationship between microsatellite markers and single nucleotide polymorphisms (SNPs) is of considerable importance, as microsatellite markers can potentially be incorporated into haplotypes containing SNPs to increase marker density across a region of interest. However, SNPs and microsatellite markers have different mutation rates and durations, and it is conceivable that the linkage disequilibrium (LD) patterns between the genetic markers may considerably differ. We assessed the LD patterns using 1,661 SNPs and 65 microsatellite markers along chromosome 22 and investigated whether common patterns of LD between the two genetic markers are deduced from the results. The results demonstrated that the patterns of LD among microsatellite markers varied considerably and the LD runs of SNPs and microsatellite markers showed distinct patterns. Microsatellite markers have a much higher mutation rate and the evolution of microsatellite markers is a more complex process which has distinct mutation properties from those of SNPs. We consider that these might contribute to the different LD patterns between the two genetic markers. Therefore, it would seem inadvisable to make assumptions about persistence of LD across even a relatively small genetic distance among microsatellite markers and to construct mixed marker haplotypes/LD maps employing microsatellite markers.

摘要

有人提出,微卫星标记与单核苷酸多态性(SNP)之间的单倍型关系具有相当重要的意义,因为微卫星标记有可能被纳入包含SNP的单倍型中,以增加感兴趣区域的标记密度。然而,SNP和微卫星标记具有不同的突变率和持续时间,可以想象,遗传标记之间的连锁不平衡(LD)模式可能会有很大差异。我们使用沿着22号染色体的1661个SNP和65个微卫星标记评估了LD模式,并研究了是否能从结果中推断出这两种遗传标记之间常见的LD模式。结果表明,微卫星标记之间的LD模式差异很大,SNP和微卫星标记的LD连续片段呈现出不同的模式。微卫星标记具有更高的突变率,微卫星标记的进化是一个更复杂的过程,其具有与SNP不同的突变特性。我们认为,这些可能导致了这两种遗传标记之间不同的LD模式。因此,即使在微卫星标记之间相对较小的遗传距离内,对LD的持续性进行假设以及构建包含微卫星标记的混合标记单倍型/LD图谱似乎都是不可取的。

https://cdn.ncbi.nlm.nih.gov/pmc/blobs/0277/2693632/aefec68bb5d1/jkms-22-425-g001.jpg

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