Phillips J A
Department of Pediatrics, Vanderbilt University School of Medicine, Nashville, TN 37232.
Horm Res. 1994;41(5-6):157-68. doi: 10.1159/000183887.
DNA mapping techniques are being increasingly applied to familial and acquired disorders affecting growth and development. To understand the potential applications of these techniques, one must first have a good understanding of the components and basic structure of DNA, the genetic code, the basic structure of genes and the roles that various components of gene structure play in regulating gene expression. Following review of this basic information, a variety of DNA mapping techniques including in situ hybridization, Southern blotting, polymerase chain reaction amplification, DNA sequencing and linkage analysis will be covered. Applications of these techniques can enable mapping of unknown genes by detection of loss of allelic heterozygosity or use of linkage analysis and genetic maps. With increasing ease, mutations such as deletions, expansions, rearrangements and point mutations can be detected in diseases such as congenital adrenal hyperplasia, cystic fibrosis, diabetes insipidus, growth hormone deficiency, fragile X syndrome, Laron dwarfism and Turner syndrome. From this discussion, a better understanding of methods of gene localization, uses of genetic maps and rapid, convenient methods to detect a variety of molecular derangements causing familial disorders affecting growth and development will be gained.
DNA图谱技术正越来越多地应用于影响生长发育的家族性和后天性疾病。为了理解这些技术的潜在应用，首先必须很好地了解DNA的组成部分和基本结构、遗传密码、基因的基本结构以及基因结构的各个组成部分在调节基因表达中所起的作用。在回顾这些基本信息之后，将介绍包括原位杂交、Southern印迹、聚合酶链反应扩增、DNA测序和连锁分析在内的多种DNA图谱技术。这些技术的应用可以通过检测等位基因杂合性的丧失或使用连锁分析和遗传图谱来实现未知基因的定位。在先天性肾上腺皮质增生症、囊性纤维化、尿崩症、生长激素缺乏症、脆性X综合征、拉伦侏儒症和特纳综合征等疾病中，越来越容易检测到诸如缺失、扩增、重排和点突变等突变。通过这次讨论，将更好地理解基因定位方法、遗传图谱的用途以及快速、便捷地检测导致影响生长发育的家族性疾病的各种分子紊乱的方法。
