title: Search for alpha4 and alpha7 nicotinic acetylcholine receptor markers in a pedigree of benign familial infantile convulsions (BFIC).
abstract: In this study we investigate the possible involvement of the recently reported locus for benign familial infantile convulsions (BFIC) in human chromosome 19 and that of the neuronal acetylcholine receptor alpha4 (CHRNA4) and alpha7 (CHRNA7) subunits in a family with at least twelve clinically diagnosed cases of BFIC. Six polymorphic microsatellite markers covering the BFIC locus on chromosomal region 19q, one marker for CHRNA4 (chromosome 20) and two for CHRNA7 (chromosome 15) were used for the screening. The two-point lod score analysis showed no evidence of BFIC phenotype on chromosome 19. Similarly, when markers for chromosome 20 (CHRNA4 intron1, Amplimer: CHRNA4. PCR.1) and chromosome 15 (D15S165 and D15S1010) were used, score analysis showed no indication of linkage. The most likely interpretation of these results is that BFIC is a genetically heterogeneous form of epilepsy.
authors.affiliation: Instituto de Investigaciones Bioquímicas and UNESCO Chair of Biophysics and Molecular Neurobiology, Universidad Nacional del Sur-CONICET, C.C. 857, B8000FWB Bahia Blanca, Argentina.
authors.forename: M B
authors.initials: MB
authors.lastname: Rauschemberger
authors.forename: C
authors.initials: C
authors.lastname: Vecchi
authors.forename: F J
authors.initials: FJ
authors.lastname: Barrantes
mesh_terms: D020936:Epilepsy, Benign Neonatal / Q000235:genetics*; D005260:Female; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D008297:Male; D010375:Pedigree; D011978:Receptors, Nicotinic / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D011978:Receptors, Nicotinic