Baxendale S, MacDonald M E, Mott R, Francis F, Lin C, Kirby S F, James M, Zehetner G, Hummerich H, Valdes J
Genome Analysis Laboratory, Imperial Cancer Research Fund, London, UK.
Nat Genet. 1993 Jun;4(2):181-6. doi: 10.1038/ng0693-181.
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 P1 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.
对导致亨廷顿舞蹈病（HD）的突变进行探寻，需要运用分子遗传学技术对4p16.3的很大一部分进行格外细致的分析，这使得这长达220万个碱基对的片段成为人类基因组中特征描述最为详尽的区域之一。在此，我们描述了跨越包含HD基因区域的黏粒和P1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从该区域鉴定出了几个基因，并且在近期亨廷顿舞蹈病基因的鉴定中发挥了至关重要的作用。限制性图谱为对一个编码序列极其丰富的区域进行详细分析提供了框架。这项研究还例证了许多用于分析人类基因组更大区域的策略。
