A simple and rapid nonisotopic method for sizing CAG repeats in the SCA1 gene

Hum Hered. 1997 Jan-Feb;47(1):47-51. doi: 10.1159/000154389.

Abstract

Spinocerebellar ataxia type 1 is caused by the expansion of a CAG trinucleotide repeat, located at the 5' end of the gene responsible for the disease (SCA1 gene). We propose a simple and rapid method for SCA1 diagnosis, avoiding both radioactive and Southern blotting analysis. The method allows an accurate allele sizing by visualization of polymerase chain reaction products through a silver nitrate-stained polyacrylamide gel.

MeSH terms

  • DNA Restriction Enzymes
  • Electrophoresis, Agar Gel
  • Genetic Markers
  • Humans
  • Spinocerebellar Degenerations / genetics*
  • Trinucleotide Repeats / genetics*

Substances

  • Genetic Markers
  • DNA Restriction Enzymes