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

被引：12

作者：

Bonati, MT

Asselta, R

Duga, S

Ferini-Strambi, L

Oldani, A

Zucconi, M

Malcovati, M

Dalprà, L

Tenchini, ML

机构：

[1] Univ Milan, Dept Biol & Genet Med Sci, I-20133 Milan, Italy

[2] Univ Milan, Osped San Raffaele, IRCCS, Sleep Disorders Ctr, I-20127 Milan, Italy

来源：

NEUROREPORT | 2000年 / 11卷 / 10期

关键词：

autosomal dominant nocturnal frontal lobe epilepsy (ADNFLE); CHRNA3/A5/B4; cluster; genetic mapping; nicotinic acetylcholine receptor (nAChR);

D O I：

10.1097/00001756-200007140-00008

中图分类号：

Q189 [神经科学];

学科分类号：

071006 ;

摘要：

The chromosome 15q24 region, containing the CHRNA3/A5/B4 gene cluster, coding for the alpha 3, alpha 5 and beta 4 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 0.6 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. NeuroReport 11:2097-2101 (C) 2000 Lippincott Williams & Wilkins.

引用

页码：2097 / 2101

页数：5

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