Document Detail


Genetic polymorphism at spinocerebellar ataxia 1 and 2 loci in Brazil.
MedLine Citation:
PMID:  15011139     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
Dynamic mutation involves the expansion of a tandem arrayed DNA sequence that is polymorphic in the population. This mechanism is associated with neurological/neuromuscular disorders and the pathology depends on the extension of the repeated tract, with a specific threshold for each disease. We made a PCR-based characterization of allelic polymorphism of SCA1 and SCA2 loci in a sample of 200 pairs of chromosomes in a population in Rio de Janeiro and found 23 different alleles at the SCA1 locus, varying from 10 to 39 CAG repeats (mean 27.7 +/- 3.3, mode 28) and 10 different alleles ranging from 19 to 29 CAG (mean 22.1 +/- 1.0, mode 22) at the SCA2 locus. The level of heterozygosis was 53% (SCA1) and 8% (SCA2).
Authors:
Stenio F P Duarte; Raquel S Gestinari; Mário Campos Junior; Márcia M G Pimentel; Marcelo A Costa Lima
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Publication Detail:
Type:  Journal Article; Research Support, Non-U.S. Gov't     Date:  2003-12-30
Journal Detail:
Title:  Genetics and molecular research : GMR     Volume:  2     ISSN:  1676-5680     ISO Abbreviation:  Genet. Mol. Res.     Publication Date:  2003  
Date Detail:
Created Date:  2004-03-10     Completed Date:  2004-06-07     Revised Date:  2007-05-02    
Medline Journal Info:
Nlm Unique ID:  101169387     Medline TA:  Genet Mol Res     Country:  Brazil    
Other Details:
Languages:  eng     Pagination:  360-5     Citation Subset:  IM    
Affiliation:
Human Genetics Service, Department of Cell Biology and Genetics, State University of Rio de Janeiro, Rio de Janeiro, RJ, Brazi.
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MeSH Terms
Descriptor/Qualifier:
Adolescent
Adult
Brazil
DNA Mutational Analysis
Female
Gene Frequency*
Genetic Predisposition to Disease
Humans
Male
Middle Aged
Nerve Tissue Proteins / genetics
Nuclear Proteins / genetics
Polymerase Chain Reaction
Polymorphism, Genetic / genetics*
Proteins / genetics
Spinocerebellar Ataxias / genetics*
Chemical
Reg. No./Substance:
0/Nerve Tissue Proteins; 0/Nuclear Proteins; 0/Proteins; 0/SCA2 protein; 0/ataxin-1

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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