Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23-q24.1

Détails

ID Serval
serval:BIB_CA4D034EC0B4
Type
Article: article d'un périodique ou d'un magazine.
Collection
Publications
Titre
Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23-q24.1
Périodique
Genomics
Auteur(s)
Hernandez  A., Magarino  C., Gispert  S., Santos  N., Lunkes  A., Orozco  G., Heredero  L., Beckmann  J., Auburger  G.
ISSN
0888-7543 (Print)
Statut éditorial
Publié
Date de publication
01/1995
Volume
25
Numéro
2
Pages
433-5
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Jan 20
Résumé
A refined genetic map of the spinocerebellar ataxia 2 locus was constructed through linkage and haplotype analysis of 11 large pedigrees from the Holguin SCA2 family collective. Three-point analysis makes a localization of the SCA2 mutation in the 6-cM interval D12S84-D12S79 likely. This is consistent with haplotype results indicating a crossover event between two branches of the SCA2 family Rs and placing the mutation on the telomeric side of D12S84. The microsatellite D12S105 within this interval shows a peak two-point lod score of Z = 16.14 at theta = 0.00 recombination and complete linkage disequilibrium among affected individuals. These data together with the observation of a common disease haplotype among all family ancestors support the notion of an SCA2 founder effect in Holguin province.
Mots-clé
Adolescent Adult Age of Onset Aged Child Chromosome Mapping *Chromosomes, Human, Pair 12 Crossing Over, Genetic Cuba/epidemiology DNA, Satellite/genetics Female Founder Effect *Genes Haplotypes/genetics Humans Linkage Disequilibrium Lod Score Male Middle Aged Pedigree Polymerase Chain Reaction Spinocerebellar Degenerations/epidemiology/*genetics
Pubmed
Web of science
Création de la notice
25/01/2008 17:17
Dernière modification de la notice
03/03/2018 21:24
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