Refined mapping of CHRNA3/A5/B4 gene cluster and its implications in ADNFLE.

Abstract

The chromosome 15q24 region, containing the CHRNA3/A5/B4 gene cluster, coding for the alpha3, alpha5 and beta4 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 G¿en¿ethon STR markers allowed to position the cluster in a 0.6 cM 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.

• Authors: M T Bonati, R Asselta, S Duga, L Ferini-Strambi, A Oldani, M Zucconi, M Malcovati, L Dalprà, M L Tenchini
• Journal: Neuroreport (Neuroreport) Vol. 11 Issue 10 Pg. 2097-101 (Jul 14 2000) ISSN: 0959-4965 [Print] England
• PMID: 10923651 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)

Chemical References

• Genetic Markers
• Protein Subunits
• Receptors, Nicotinic
• nicotinic receptor subunit alpha3

Topics

• Chromosome Mapping
• Chromosomes, Human, Pair 15
• Circadian Rhythm
• Consanguinity
• Epilepsy, Frontal Lobe (genetics, physiopathology)
• Female
• Genetic Markers
• Humans
• Male
• Microsatellite Repeats
• Multigene Family
• Pedigree
• Polymorphism, Genetic
• Protein Subunits
• Receptors, Nicotinic (genetics)