Large pathogenic expansions in the SCA2 and SCA7 genes can be detected by fluorescent repeat-primed polymerase chain reaction assay

J Mol Diagn. 2006 Feb;8(1):128-32. doi: 10.2353/jmoldx.2006.050043.

Abstract

Large expansions in the SCA2 and SCA7 genes (>100 CAG repeats) have been associated with juvenile and infantile forms of cerebellar ataxias that cannot be detected using standard polymerase chain reaction (PCR). Here, we describe a successful application of the fluorescent short tandem repeat-primed PCR method for accurate identification of these expanded repeats. The test is robust, reliable, and inexpensive and can be used to screen large series of patients, although it cannot give a precise evaluation of the size of the expansion. This test may be of practical value in prenatal diagnoses offered to affected or pre-symptomatic at-risk parents, in which a very large expansion inherited from one of the parents can be missed in the fetus by standard PCR.

Publication types

  • Comparative Study
  • Evaluation Study
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ataxin-7
  • Ataxins
  • Case-Control Studies
  • Fluorescence
  • Genetic Carrier Screening
  • Genetic Testing
  • Humans
  • Nerve Tissue Proteins / genetics*
  • Nerve Tissue Proteins / metabolism
  • Polymerase Chain Reaction / methods*
  • Spinocerebellar Degenerations / diagnosis*
  • Spinocerebellar Degenerations / genetics
  • Trinucleotide Repeat Expansion / genetics*

Substances

  • ATXN7 protein, human
  • Ataxin-7
  • Ataxins
  • Nerve Tissue Proteins