利用限制性片段长度多态性构建人类遗传连锁图谱。
Construction of a genetic linkage map in man using restriction fragment length polymorphisms.
作者信息
Botstein D, White R L, Skolnick M, Davis R W
出版信息
Am J Hum Genet. 1980 May;32(3):314-31.
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.
我们描述了一种构建人类基因组遗传连锁图谱的新方法。该图谱构建方案的基本原理是，通过重组DNA技术开发出随机单拷贝DNA探针，当这些探针与个体DNA的限制性酶切片段杂交时，能够检测出DNA序列多态性。每个这样的探针将定义一个基因座。通过进一步应用重组DNA技术，可以增加或减少基因座中的多态性。可以采用已有的方法在人类家系中检测具有适当多态性的基因座之间的连锁关系；并且可以将这些基因座排列成连锁群，以形成一个真正的“DNA标记基因座”遗传图谱。然后可以对已知存在遗传性状分离的家系进行分析，从而有可能将负责该性状的基因相对于DNA标记基因座进行定位，而无需直接获取特定基因的DNA。对于以这种方式定位的遗传性疾病，连锁的DNA标记基因座可用于遗传咨询的预测。
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