A quantitative-PCR protocol rapidly detects αGAL deletions/duplications in patients with Anderson-Fabry disease

Mol Genet Metab. 2012 Apr;105(4):687-9. doi: 10.1016/j.ymgme.2012.01.012. Epub 2012 Jan 21.

Abstract

The Anderson-Fabry disease (AFD) is an X-linked glycosphingolipidosis leading to a progressive systemic disease. A particular variant of the disease of AFD presents only with left ventricular hypertrophy (LVH). Molecular diagnosis with bidirectional sequencing fails to detect genomic re-arrangements in female patients because of the presence of the wt allele. We here propose a quantitative PCR-based method alternative/complementary to the MLPA.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Cohort Studies
  • DNA / analysis
  • DNA / genetics
  • Fabry Disease / genetics*
  • Feasibility Studies
  • Female
  • Gene Duplication*
  • Humans
  • Hypertrophy, Left Ventricular / genetics*
  • Middle Aged
  • Polymerase Chain Reaction / methods*
  • Sequence Deletion*
  • alpha-Galactosidase / genetics*

Substances

  • DNA
  • alpha-Galactosidase