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  • Title: Construction of a linkage map of the human genome, and its application to mapping genetic diseases.
    Author: Green P, Helms C, Weiffenbach B, Stephens K, Keith T, Bowden D, Smith D, Donis-Keller H.
    Journal: Clin Chem; 1989 Jul; 35(7 Suppl):B33-7. PubMed ID: 2568196.
    Abstract:
    A powerful method for localizing the genes responsible for genetic diseases is to "mark" each chromosomal region so as to permit its inheritance to be tracked in families carrying the disease; the disease gene must lie in the same region as any marker with which it is co-inherited. Chromosomes can be efficiently marked in this way by using restriction fragment length polymorphisms (RFLPs). We describe the construction of a map of the human genome with over 550 RFLP markers, such that over 95% of the genome is detectably linked to one or more of these markers. This map will make possible efficient searches for genes underlying a variety of disorders, both simple and complex, and lead to the development of presymptomatic diagnostic tests for these diseases.
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