Genetic and radiation hybrid mapping of the hyperekplexia region on chromosome 5q.

摘要: Hyperekplexia, or startle disease (STHE), is an autosomal dominant neurologic disorder characterized by muscular rigidity of central nervous system origin, particularly in the neonatal period, and exaggerated response to sudden, unexpected acoustic tactile stimuli. STHE responds dramatically benzodiazepine drug clonazepam, which acts at gamma-aminobutyric acid type A (GABA-A) receptors. The locus (STHE) was recently assigned chromosome 5q, on basis tight linkage colony-stimulating factor 1-receptor (CSF1-R) a single large family. We performed analysis original three additional pedigrees with eight 5q microsatellite markers placed several most closely linked existing radiation hybrid (RH) map region. results provide strong evidence for genetic homogeneity assign 5.9-cM interval defined CSF1-R D5S379, are separated RH distance 74 centirays (roughly 2.2-3.7 Mb). Two polymorphic (D5S119 D5S209) lie within this region, but they could not be ordered respect STHE. mapping eliminated candidate genes GABRA1 GABRG2, encode GABA-A receptor components, showing that telomeric target