Title: Problems and Pitfalls in Linkage Mapping of Human Genetic Diseases: Illustrations from Autosomal Dominant Retinitis Pigmentosa (ADRP)
Abstract: Abstract During the past four decades, linkage mapping in humans has become one of the most effective methods for establishing the molecular basis of genetic diseases. By linkage mapping we mean linkage testing in families with the related goals of assigning genetic loci both to linkage groups and to chromosome regions. The first autosomal linkage in humans, between the Lutheran blood group and the ABO secretor locus, was reported in 1954 by J. Mohr. Shortly thereafter, linkage between Rh and elliptocytosis was reported and the first instance of genetic heterogeneity was demonstrated (Morton, 1956). Since then the power oflinkage mapping in humans has expanded profoundly and the utility of linkage as a first step toward identification of disease loci and the cloning of mutant genes has been demonstrated repeatedly.
Publication Year: 1993
Publication Date: 1993-06-17
Language: en
Type: book-chapter
Indexed In: ['crossref']
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