遗传学
生物
限制性片段长度多态性
基因座(遗传学)
系谱图
联动装置(软件)
遗传连锁
人类基因组
遗传标记
基因定位
DNA
DNA测序
基因
片段(逻辑)
基因组
等位基因
等位基因频率
多态性(计算机科学)
基因型
染色体
作者
David Botstein,Ray White,Mark H. Skolnick,Ronald W. Davis
出处
期刊:PubMed
日期:1980-05-01
卷期号:32 (3): 314-31
被引量:3253
摘要
We describe a new basis for the construction of a genetic linkage map of the human genome. The basic principle of the mapping scheme is to develop, by recombinant DNA techniques, random single-copy DNA probes capable of detecting DNA sequence polymorphisms, when hybridized to restriction digests of an individual's DNA. Each of these probes will define a locus. Loci can be expanded or contracted to include more or less polymorphism by further application of recombinant DNA technology. Suitably polymorphic loci can be tested for linkage relationships in human pedigrees by established methods; and loci can be arranged into linkage groups to form a true genetic map of "DNA marker loci." Pedigrees in which inherited traits are known to be segregating can then be analyzed, making possible the mapping of the gene(s) responsible for the trait with respect to the DNA marker loci, without requiring direct access to a specified gene's DNA. For inherited diseases mapped in this way, linked DNA marker loci can be used predictively for genetic counseling.
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