A tool for the molecular analysis of an early lethal disease: slide-PCR in spinal muscular atrophy patients

Mol Cell Probes. 1993 Jun;7(3):221-6. doi: 10.1006/mcpr.1993.1032.

Abstract

DNA was recovered from sections of muscle biopsies of 20 spinal muscular atrophy (SMA) patients fixed on microscopic slides and stored from one to 20 years at room temperature. Microsatellite DNA markers tightly linked to the SMA locus were amplified using the polymerase chain reaction (PCR) to obtain specific amplified products. The procedure was successful in all cases, and allowed prenatal diagnosis in one at-risk pregnancy. In our hands this procedure is quick, sensitive and reproducible.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alleles
  • Base Sequence
  • Biopsy
  • Chromosome Mapping
  • DNA, Satellite / analysis*
  • DNA, Satellite / genetics
  • Female
  • Gene Amplification
  • Humans
  • Male
  • Microscopy / instrumentation
  • Microscopy / methods
  • Molecular Sequence Data
  • Muscles / pathology
  • Muscular Atrophy, Spinal / diagnosis*
  • Muscular Atrophy, Spinal / genetics*
  • Muscular Atrophy, Spinal / pathology
  • Polymerase Chain Reaction / methods*
  • Retrospective Studies
  • Temperature

Substances

  • DNA, Satellite

Grants and funding