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

Details

Serval ID
serval:BIB_C784E4048EAD
Type
Article: article from journal or magazin.
Collection
Publications
Title
A narcolepsy susceptibility locus maps to a 5 Mb region of chromosome 21q.
Journal
Annals of Neurology
Author(s)
Dauvilliers Y., Blouin J.L., Neidhart E., Carlander B., Eliaou J.F., Antonarakis S.E., Billiard M., Tafti M.
ISSN
0364-5134
Publication state
Published
Issued date
2004
Peer-reviewed
Oui
Volume
56
Number
3
Pages
382-328
Language
english
Abstract
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.
Keywords
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
Create date
24/01/2008 15:55
Last modification date
20/08/2019 15:42
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