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Locating Genetic Modifiers for Inherited Neurodegenerative Diseases

  • Chapter
Cerebral Cortex

Part of the book series: Cerebral Cortex ((CECO,volume 14))

Abstract

Advances in molecular and statistical genetics have heralded discoveries of the basis of many disorders, including those affecting the central nervous system. The principal strategy, often referred to as “reverse genetics,” does not require any knowledge of the biochemistry or pathogenesis of a disease. This approach, however, presumes the existence of a major disease susceptibility gene whose various forms, called alleles, are faithfully transmitted from one generation to the next in a predictable Mendelian fashion. The first step entails localizing the gene to a chromosome using one of several methodologies, most frequently genetic linkage analysis. Then other strategies, including positional cloning and physical mapping, are employed to isolate (i.e., clone) the gene. Next the gene is sequenced to deduce the predicted primary protein structure that it encodes and is evaluated for mutations associated with the disease. Finally, experiments are pursued to delineate the expression of the gene product in various tissues from individuals with and without disease.

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Authors and Affiliations

  1. Departments of Medicine (Genetics Program) and Neurology, Boston University School of Medicine, Boston, Massachusetts, 02118, USA

    Lindsay A. Farrer

  2. Department of Epidemiology and Biostatistics, Boston University School of Public Health, Boston, Massachusetts, 02118, USA

    Lindsay A. Farrer

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  1. Boston University School of Medicine, Boston, Massachusetts, USA

    Alan Peters

  2. Mount Sinai Medical Center, New York, New York, USA

    John H. Morrison

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Farrer, L.A. (1999). Locating Genetic Modifiers for Inherited Neurodegenerative Diseases. In: Peters, A., Morrison, J.H. (eds) Cerebral Cortex. Cerebral Cortex, vol 14. Springer, Boston, MA. https://doi.org/10.1007/978-1-4615-4885-0_12

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