Genetic polymorphism at spinocerebellar ataxia 1 and 2 loci in Brazil

Genet Mol Res. 2003 Dec 30;2(4):360-5.

Abstract

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).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Ataxin-1
  • Ataxins
  • 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*

Substances

  • ATXN1 protein, human
  • Ataxin-1
  • Ataxins
  • Nerve Tissue Proteins
  • Nuclear Proteins
  • Proteins