The neurological gene map is presented here to summarize the present state of knowledge concerning the positional map of the major neurologic diseases in 1993. Further gene loci associated with neurologic disease will inevitably have been mapped to specific chromosomal regions by the time this issue is published. The Table shows the chromosomal localization of loci for mutations causing neurologic disease and genes encoding proteins, enzymes, and transmitters involved in normal neurologic function.
The techniques used in gene mapping include genetic linkage studies using conventional (such as blood group antigens and protein polymorphisms) and DNA (eg, restriction fragment length polymorphism, variable tandem repeats, and microsatellite) markers, somatic cell hybridization, and in situ hybridization to specific chromosomal regions. The most immediate clinical application is the ability to diagnose genetic disorders preclinically and prenatally.
Rosenberg RN. A Neurological Gene Map. Arch Neurol. 1993;50(11):1269–1271. doi:10.1001/archneur.1993.00540110139013
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