位于人类8号染色体短臂上的韦尔纳综合征区域内的一个3.1兆碱基对的酵母人工染色体连续克隆系。

A 3.1-Mb YAC contig within the Werner syndrome region, on the short arm of human chromosome 8.

作者信息

Chaffanet M, Imbert A, Adélaïde J, Le Paslier D, Wagner M J, Wells D E, Birnbaum D, Pébusque M J

机构信息

Laboratoire d'Oncologie Moléculaire, U.119 INSERM, Marseille, France.

出版信息

Cytogenet Cell Genet. 1996;72(1):63-8. doi: 10.1159/000134164.

DOI:10.1159/000134164

PMID:8565638

Abstract

The locus for Werner syndrome (WRN) has been localized to human chromosome 8p21 --> p12, close to the anonymous marker D8S339. A 3.1-Mb contig of yeast artificial chromosomes (YACs) was assembled around D8S339. Results from analyses of somatic cell hybrids, FISH, and physical mapping suggest the following loci order: tel-NEFL-D8S131-D8S339-[D8S540/GSR]-D8S124 -D8S259-D8S87-FGFR1-cen. Close physical linkage between D8S540 and GSR was established within a DNA fragment of 200 kb. These two loci are not more than 400 kb from D8S339. In addition, D8S339, D8S540, D8S124, and GSR are within 1.1 Mb. These data establish a primary physical map of the Werner syndrome region and identify useful YAC clones for the isolation of new markers and of the corresponding gene.

摘要

沃纳综合征（WRN）基因座已被定位到人类染色体8p21→p12，靠近无名标记D8S339。围绕D8S339构建了一个由酵母人工染色体（YAC）组成的3.1兆碱基重叠群。体细胞杂种分析、荧光原位杂交（FISH）和物理图谱分析结果表明基因座顺序如下：端粒-NEFL-D8S131-D8S339-[D8S540/GSR]-D8S124-D8S259-D8S87-成纤维细胞生长因子受体1（FGFR1）-着丝粒。在一个200千碱基的DNA片段内确定了D8S540和谷氨酸脱氢酶（GSR）之间紧密的物理连锁。这两个基因座与D8S339的距离不超过400千碱基。此外，D8S339、D8S540、D8S124和GSR位于1.1兆碱基范围内。这些数据建立了沃纳综合征区域的初步物理图谱，并鉴定出用于分离新标记和相应基因的有用YAC克隆。