Hirst M C, Knight S M, Nakahori Y, Roche A, Davies K E
Institute of Molecular Medicine, John Radcliffe Hospital, Oxford, UK.
J Inherit Metab Dis. 1992;15(4):532-8. doi: 10.1007/BF01799612.
The molecular analysis of human X-linked disease has progressed rapidly over the last few years owing to advances in power of mapping techniques. Physical DNA maps covering more than 5 million base pairs have been constructed for several chromosomal regions. Many of these regions have now also been cloned into overlapping cosmid and YAC contigs facilitating the search for disease genes. The recent identification of the mutation in the fragile X syndrome is such an example of the power of YAC technology in the characterization of human genetic disease mutations.
在过去几年中，由于定位技术能力的提高，人类X连锁疾病的分子分析进展迅速。已经为几个染色体区域构建了覆盖超过500万个碱基对的物理DNA图谱。现在，这些区域中的许多也已被克隆到重叠的黏粒和酵母人工染色体连续群中，这有助于寻找疾病基因。脆性X综合征突变的最近鉴定就是酵母人工染色体技术在人类遗传疾病突变特征分析中强大作用的一个例子。
