Construction of a genetic linkage map in man using restriction fragment length polymorphisms.
Construction of a genetic linkage map in man using restriction fragment length polymorphisms.
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DOI：
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发表时间：
1980-05
影响因子：
9.8
通讯作者：
D. Botstein;R. White;M. Skolnick;R. W. Davis
中科院分区：
文献类型：
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作者：
D. Botstein;R. White;M. Skolnick;R. W. Davis
我们描述了人类基因组遗传连锁图谱构建的新基础。定位方案的基本原理是，通过重组DNA技术，开发能够检测DNA序列多态性的随机单拷贝DNA探针，当杂交到个体DNA的限制性消化时。每个探针将定义一个轨迹。通过进一步应用重组DNA技术，基因座可以扩展或收缩以包含或多或少的多态性。适当的多态位点可以通过既定的方法测试人类家系的连锁关系；和位点可以排列成连锁组，形成真正的“DNA标记位点”遗传图谱。然后，可以对已知具有分离性的遗传性状的系谱进行分析，从而可以根据DNA标记位点绘制负责该性状的基因，而无需直接访问特定基因的DNA。对于以这种方式绘制的遗传性疾病，链接DNA标记位点可用于遗传咨询的预测性。
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.