Riess O, Winkelmann B, Epplen J T
Molekulare Humangenetik Ruhr-Universität, Bochum, Germany.
Hum Genet. 1994 Jul;94(1):1-18. doi: 10.1007/BF02272834.
The identification of disease genes via molecular DNA cloning has revolutionized human genetics and medicine. Both the candidate gene approach and positional cloning have been used successfully. The defects causing Huntington's disease, facioscapulohumeral muscular dystrophy, piebaldism, Hurler/Scheie syndrome, one form of autosomal recessive retinitis pigmentosa, and a second locus for autosomal dominant polycystic kidney disease have recently been localized to chromosome 4. In addition to the rapid progress in the cloning of the 203-megabase chromosome, the presence of more than 60 closely spaced microsatellites on this chromosome will undoubtedly lead to the localization of additional disease genes. In order to consider cloned genes as potential candidates for disorders assigned to chromosome 4, it is important to collect and order all genes with respect to their chromosomal localization. Analysis of cytogenetically visible interstitial and terminal deletions should also be helpful in defining new disease gene loci and in mapping novel genes. These data represent the status quo of the integrated molecular map for chromosome 4.
通过分子DNA克隆来鉴定疾病基因，已经给人类遗传学和医学带来了革命性的变化。候选基因法和定位克隆法都已成功应用。导致亨廷顿氏病、面肩肱型肌营养不良症、斑驳病、Hurler/Scheie综合征、一种常染色体隐性视网膜色素变性以及常染色体显性多囊肾病的第二个位点的缺陷，最近已被定位到4号染色体上。除了在克隆这条203兆碱基的染色体方面取得快速进展外，该染色体上60多个紧密排列的微卫星的存在，无疑将导致更多疾病基因的定位。为了将克隆基因视为定位到4号染色体的疾病的潜在候选基因，重要的是收集所有基因并根据它们的染色体定位进行排序。对细胞遗传学上可见的中间缺失和末端缺失进行分析，也将有助于确定新的疾病基因位点并绘制新基因图谱。这些数据代表了4号染色体综合分子图谱的现状。
