19q13.2-qter区域可变简单序列基序的鉴定：强直性肌营养不良基因座的标记

Identification of variable simple sequence motifs in 19q13.2-qter: markers for the myotonic dystrophy locus.

作者信息

Smeets H J, Hermens R, Brunner H G, Ropers H H, Wieringa B

机构信息

Department of Human Genetics, Radboud Hospital, University of Nijmegen, The Netherlands.

出版信息

Genomics. 1991 Feb;9(2):257-63. doi: 10.1016/0888-7543(91)90250-i.

DOI:10.1016/0888-7543(91)90250-i

PMID:1840564

Abstract

Variable simple sequence motifs (VSSMs), or microsatellites, were used for the genetic delimitation of the myotonic dystrophy (DM) region at 19q. Three simple sequence motifs were identified in and around the ERCC1 DNA-repair gene at 19q13.2-13.3 and one in the vicinity of the RRAS gene at 19q13.3-qter. A (TG)n repeat, situated within the ninth intron of the ERCC1 gene, was converted into a highly informative multiallelic marker using PCR-mediated DNA amplification and high-resolution gel analysis. The structurally similar sequence motif in the RRAS gene yielded a marker system with only two alleles. Use of these VSSMs for linkage analysis and haplotyping in a selected set of DM families revealed that the DM gene is distal but close to the ERCC1 locus and can be excluded from the CKM-ERCC1 interval at 19q13.2. The order for RRAS and other distally located markers was established as DM-D19S50-[RRAS,KLK]-D19S22-ter.

摘要

可变简单序列基序（VSSM），即微卫星，被用于对19号染色体上强直性肌营养不良（DM）区域进行基因定位。在19q13.2 - 13.3的ERCC1 DNA修复基因内部及周围鉴定出三个简单序列基序，在19q13.3 - qter的RRAS基因附近鉴定出一个。位于ERCC1基因第九个内含子内的一个（TG）n重复序列，通过PCR介导的DNA扩增和高分辨率凝胶分析被转化为一个信息丰富的多等位基因标记。RRAS基因中结构相似的序列基序产生了一个只有两个等位基因的标记系统。在一组选定的DM家族中使用这些VSSM进行连锁分析和单倍型分析表明，DM基因位于远端，但靠近ERCC1基因座，并且可以排除在19q13.2的CKM - ERCC1区间之外。RRAS和其他位于远端的标记的顺序确定为DM - D19S50 - [RRAS，KLK] - D19S22 - 末端。