Genetic polymorphism at spinocerebellar ataxia 1 and 2 loci in Brazil
Genet. mol. res. (Online)
;
2(4): 360-365, Dec. 2003.
Article
in English
| LILACS
| ID: lil-417594
RESUMO
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)
Full text:
Available
Index:
LILACS (Americas)
Main subject:
Spinocerebellar Ataxias
/
Gene Frequency
Limits:
Adolescent
/
Adult
/
Female
/
Humans
/
Male
Country/Region as subject:
South America
/
Brazil
Language:
English
Journal:
Genet. mol. res. (Online)
Journal subject:
Molecular Biology
/
Genetics
Year:
2003
Type:
Article
Affiliation country:
Brazil
Institution/Affiliation country:
State University of Rio de Janeiro/BR
Similar
MEDLINE
...
LILACS
LIS