A narcolepsy susceptibility locus maps to a 5 Mb region of chromosome 21q.

Détails

ID Serval
serval:BIB_C784E4048EAD
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
A narcolepsy susceptibility locus maps to a 5 Mb region of chromosome 21q.
Périodique
Annals of Neurology
Auteur(s)
Dauvilliers Y., Blouin J.L., Neidhart E., Carlander B., Eliaou J.F., Antonarakis S.E., Billiard M., Tafti M.
ISSN
0364-5134
Statut éditorial
Publié
Date de publication
2004
Peer-reviewed
Oui
Volume
56
Numéro
3
Pages
382-328
Langue
anglais
Résumé
The genetic basis of human narcolepsy remains poorly understood. Multiplex families with full-blown narcolepsy-cataplexy are rare, whereas families with both narcolepsy-cataplexy and excessive daytime sleepiness without cataplexy are more common. We performed a genomewide linkage analysis in a large French family with four members affected with narcolepsy-cataplexy and 10 others with isolated recurrent naps or lapses into sleep. Only three regions showed logarithm of odds (LOD) scores greater than 1 in two-point linkage analysis (D6S1960, D11S2359, and D21S228). Genotyping additional markers provided support for linkage to 9 markers on chromosome 21 (maximum two-point LOD score, 3.36 at D21S1245). The multipoint linkage analysis using SimWalk2 provided further evidence for linkage to the same region (maximum parametric LOD score, 4.00 at 21GT26K). A single haplotype was shared by all affected individuals and informative crossovers indicated that the elusive gene that confers susceptibility to narcolepsy is likely to be located between markers D21S267 and ABCG1, in a 5.15 Mb region of 21q.
Mots-clé
Child, Chromosomes, Human, Pair 21, Female, Genetic Markers, Genetic Predisposition to Disease, Humans, Linkage (Genetics), Lod Score, Male, Narcolepsy, Pedigree, Physical Chromosome Mapping
Pubmed
Web of science
Création de la notice
24/01/2008 16:55
Dernière modification de la notice
03/03/2018 21:19
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