Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23-q24.1
Details
Serval ID
serval:BIB_CA4D034EC0B4
Type
Article: article from journal or magazin.
Collection
Publications
Institution
Title
Genetic mapping of the spinocerebellar ataxia 2 (SCA2) locus on chromosome 12q23-q24.1
Journal
Genomics
ISSN
0888-7543 (Print)
Publication state
Published
Issued date
01/1995
Volume
25
Number
2
Pages
433-5
Notes
Journal Article
Research Support, Non-U.S. Gov't --- Old month value: Jan 20
Research Support, Non-U.S. Gov't --- Old month value: Jan 20
Abstract
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.
Keywords
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
Create date
25/01/2008 17:17
Last modification date
20/08/2019 16:45