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Abstract

Linkage analysis is a powerful tool for identifying and characterizing the genetic basis for human disease. Most successes have been in the localization of diseases whose inheritance is known to follow simple patterns of Mendelian inheritance like X-linked hypophosphatemic rickets, neurofibromatosis, and Duchenne muscular dystrophy. For these diseases, linkage analysis follows a standard approach — identifying the chromosomal location of the disease gene, determining the minimum candidate interval by the identification of critical recombination events, and systematically narrowing the interval to as small a region as possible by typing additional markers and individuals. This approach is well established: if enough informative meioses are available, the diagnosis is correctly assigned and the power of the available pedigree material is sufficient, the locus will be mapped.

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Leal, S.M., Speer, M.C. (2000). Genetic Linkage Analysis in Human Disease. In: Econs, M.J. (eds) The Genetics of Osteoporosis and Metabolic Bone Disease. Humana Press, Totowa, NJ. https://doi.org/10.1007/978-1-59259-033-9_20

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