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Locating genes involved in human diseases

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The increasing amount of information that is becoming available about the structure and composition of the DNA constituting the human chromosomes has provided new opportunities to locate genes that affect susceptibilities to a range of diseases. The accurate location of these genes is important in genetic counselling and in understanding the effects of genes that may result in disease. Various methods of analysing the data when DNA information is available at a single marker locus for an affected child and his or her parents are reviewed and applied to data on insulin-dependent diabetes mellitus. The importance of distinguishing between the association of alleles at a marker locus and at a disease locus resulting from chromosomal linkage from that resulting from other causes is emphasized.

Keywords: Allelic association; Familial data; Gene location; Genetic disease; Genetic linkage; Transmission disequilibrium tests

Document Type: Original Article


Affiliations: University of Reading, UK

Publication date: January 1, 1998

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