来自9号染色体长臂34区结节性硬化症候选区域的黏粒重叠群

Cosmid contigs from the tuberous sclerosis candidate region on chromosome 9q34.

作者信息

van Slegtenhorst M, Janssen B, Nellist M, Ramlakhan S, Hermans C, Hesseling A, van den Ouweland A, Kwiatkowski D, Eussen B, Sampson J

机构信息

MGC Department of Clinical Genetics, Erasmus University Rotterdam, The Netherlands.

出版信息

Eur J Hum Genet. 1995;3(2):78-86. doi: 10.1159/000472280.

DOI:10.1159/000472280

PMID:7552145

Abstract

Tuberous sclerosis (TSC) is a heterogeneous multisystem disorder with loci on 9q34 (TSC1) and 16p13.3 (TSC2). The TSC2 gene has recently been isolated, while the TSC1 gene has been mapped to a 5-cM region between the markers D9S149 and D9S114. In our effort to localise and clone TSC1, we have obtained three adjacent cosmid contigs that cover the core of the candidate region. The three contigs comprise approximately 600 kb and include 80 cosmids, 2 P1 clones, 1 YAC, 5 anonymous markers and 4 sequence-tagged sites. The ABO blood group locus, the Surfeit gene cluster, the dopamine beta-hydroxylase gene (DBH) and VAV2, a homologue of the vav oncogene, have all been mapped within the contigs. Exon trapping and mutation screening experiments, aimed at identifying the TSC1 gene, are currently in progress.

摘要

结节性硬化症（TSC）是一种多系统异质性疾病，其基因座位于9q34（TSC1）和16p13.3（TSC2）。TSC2基因最近已被分离出来，而TSC1基因已被定位到标记D9S149和D9S114之间的一个5厘摩区域。为了定位和克隆TSC1，我们获得了三个相邻的黏粒重叠群，它们覆盖了候选区域的核心。这三个重叠群约包含600 kb，包括80个黏粒、2个P1克隆、1个酵母人工染色体、5个无名标记和4个序列标签位点。ABO血型基因座、Surfeit基因簇、多巴胺β-羟化酶基因（DBH）以及vav癌基因的同源物VAV2，都已被定位在这些重叠群内。目前正在进行旨在鉴定TSC1基因的外显子捕获和突变筛查实验。