Mapping Complex Genetic Traits in Humans: New Methods Using a Complete RFLP Linkage Map

  1. E.S. Lander*,, and
  2. D. Botstein
  1. *Whitehead Institute for Biomedical Research, Nine Cambridge Center, Cambridge, Massachusetts 02142
  2. Department of Biology, Massachusetts Institute of Technology, Cambridge, Massachusetts 02139
  3. Harvard University, Cambridge, Massachusetts 02138

This extract was created in the absence of an abstract.

Excerpt

It has been clear since the rediscovery of Mendel that humans obey laws of heredity identical with those of other organisms. The central features of Mendelism were observable in humans by following simply inherited common traits, including some diseases. However, the systematic study of human heredity using the standard concepts (complementation and recombination, tests of epistasis, etc.) has been infeasible in humans for two reasons: (1) because Homo sapiens is not an experimental animal that can be manipulated at will and (2) because few genetic markers had been found that were heterozygous often enough to allow random matings to be informative. The advent of recombinant DNA technology led to the suggestion (Botstein et al. 1980) that common polymorphisms in DNA sequence (conveniently observed as restriction fragment length polymorphisms, or RFLPs) could be used as generally informative genetic markers allowing the systematic study of heredity in humans, including the construction of...

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