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

 

作者: Maria Bonati,   Rosanna Asselta,   Stefano Duga,   Luigi Ferini-Strambi,   Alessandro Oldani,   Marco Zucconi,   Massimo Malcovati,   Leda Dalprà,   Maria Tenchini,  

 

期刊: NeuroReport  (OVID Available online 2000)
卷期: Volume 11, issue 10  

页码: 2097-2101

 

ISSN:0959-4965

 

年代: 2000

 

出版商: OVID

 

关键词: Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE);CHRNA3/A5/B4 cluster;Genetic mapping;Nicotinic acetylcholine receptor (nAChR)

 

数据来源: OVID

 

摘要:

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 Généthon 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.

 

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