TY - JOUR
T1 - Refined of CHRNA3/A5/B4 gene cluster its implication in ADNFLE
AU - Bonati, Maria Teresa
AU - Asselta, Rosanna
AU - Duga, Stefano
AU - Ferini-Strambi, Luigi
AU - Oldani, Alessandro
AU - Zucconi, Marco
AU - Malcovati, Massimo
AU - Dalprà, Leda
AU - Tenchini, Maria Luisa
PY - 2000/7/14
Y1 - 2000/7/14
N2 - 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.
AB - 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.
KW - Autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE)
KW - CHRNA3/AS/B4 cluster
KW - Genetic mapping
KW - Nicotinic acetylcholine receptor (nAChR)
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M3 - Article
C2 - 10923651
AN - SCOPUS:0034647382
SN - 0959-4965
VL - 11
SP - 2097
EP - 2101
JO - NeuroReport
JF - NeuroReport
IS - 10
ER -