用于基于荧光的半自动基因组图谱绘制的染色体特异性微卫星集。

Chromosome-specific microsatellite sets for fluorescence-based, semi-automated genome mapping.

作者信息

Reed P W, Davies J L, Copeman J B, Bennett S T, Palmer S M, Pritchard L E, Gough S C, Kawaguchi Y, Cordell H J, Balfour K M

机构信息

Nuffield Department of Surgery, University of Oxford, John Radcliffe Hospital, Headington, UK.

出版信息

Nat Genet. 1994 Jul;7(3):390-5. doi: 10.1038/ng0794-390.

DOI:10.1038/ng0794-390

PMID:7920657

Abstract

To facilitate large-scale genetic mapping of the human genome, we have developed chromosome-specific sets of microsatellite marker loci suitable for use with a fluorescence-based automated DNA fragment analyser. We present 254 dinucleotide repeat marker loci (80% from the Généthon genetic linkage map) arranged into 39 sets, covering all 22 autosomes and the X chromosome. The average distance between adjacent markers is 13 centiMorgans, and less than 4% of the genome lies more than 20 cM from the nearest marker. Each set of microsatellites consists of up to nine marker loci, with allele size ranges that do not overlap. We selected marker loci on the basis of their reliability in the polymerase chain reaction, polymorphism content, map position and the accuracy with which alleles can be scored automatically by the Genotyper program.

摘要

为便于对人类基因组进行大规模遗传图谱绘制，我们开发了适用于基于荧光的自动化DNA片段分析仪的染色体特异性微卫星标记位点集。我们展示了254个二核苷酸重复标记位点（80%来自Généthon遗传连锁图谱），这些位点被排列成39组，覆盖了所有22条常染色体和X染色体。相邻标记之间的平均距离为13厘摩，基因组中不到4% 的区域距离最近标记超过20厘摩。每组微卫星由多达9个标记位点组成，其等位基因大小范围不重叠。我们根据标记位点在聚合酶链反应中的可靠性、多态性含量、图谱位置以及Genotyper程序自动评分等位基因的准确性来选择标记位点。