A COSMID CONTIG AND HIGH-RESOLUTION RESTRICTION MAP OF THE 2 MEGABASE REGION CONTAINING THE HUNTINGTONS-DISEASE GENE
A COSMID CONTIG AND HIGH-RESOLUTION RESTRICTION MAP OF THE 2 MEGABASE REGION CONTAINING THE HUNTINGTONS-DISEASE GENE
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DOI：
10.1038/ng0693-181
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发表时间：
1993-06-01
期刊：
影响因子：
30.8
通讯作者：
BATES, GP
中科院分区：
文献类型：
--
作者：
BAXENDALE, S;MACDONALD, ME;BATES, GP
为了寻找导致亨廷顿病 (HD) 的突变，需要通过分子遗传学技术对 4p16.3 的大部分进行极其详细的分析，从而使这段 2.2 兆碱基的区域成为人类基因组中特征最明确的区域之一。在这里，我们描述了跨越含有HD基因的区域的粘粒和Pl克隆重叠群的构建，以及详细的高分辨率限制性图谱的建立。这个有序的克隆文库使得该地区的多个基因得以鉴定，并在最近亨廷顿病基因的鉴定中发挥了至关重要的作用。限制性图谱为详细分析编码序列极其丰富的区域提供了框架。这项研究还举例说明了用于分析人类基因组较大区域的许多策略。
The quest for the mutation responsible for Huntington's disease (HD) has required an exceptionally detailed analysis of a large part of 4p16.3 by molecular genetic techniques, making this stretch of 2.2 megabases one of the best characterized regions of the human genome. Here we describe the construction of a cosmid and Pl clone contig spanning the region containing the HD gene, and the establishment of a detailed, high resolution restriction map. This ordered clone library has allowed the identification of several genes from the region, and has played a vital role in the recent identification of the Huntington's disease gene. The restriction map provides the framework for the detailed analysis of a region extremely rich in coding sequences. This study also exemplifies many of the strategies to be used in the analysis of larger regions of the human genome.