The chromosome 15q24 region, containing the CHRNA3/A5/B4 gene cluster, coding for the α3, α5 and β4 subunits of neuronal nicotinic acetylcholine receptors, has been reported to be linked to autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE) in one family. However, nor the gene nor the mutation involved have been identified. We report the refined mapping of CHRNA3/A5/B4 cluster. Segregation analyses of CHRNA3/A5/B4 polymorphisms in families showing recombinations for 15q24 Genethon STR markers allowed to position the cluster in a 0.6cM interval, between STRs D15S1027 and D15S1005. This location is external to the 15q24-ADNFLE-linked region, therefore excluding the involvement of this cluster in the pathogenesis of ADNFLE in the 15q24-linked family. Moreover, these data provide more precise information for further linkage studies. (C) 2000 Lippincott Williams and Wilkins.
|Number of pages||5|
|Publication status||Published - Jul 14 2000|
- Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
- CHRNA3/AS/B4 cluster
- Genetic mapping
- Nicotinic acetylcholine receptor (nAChR)
ASJC Scopus subject areas