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

Francesca Capon, Salvatore Melchionda, Massimo Gennarelli, Stefania Lo Cicero, Manlio Giacanelli, Giuseppe Novelli, Bruno Dallapiccola

Research output: Contribution to journalArticle

Abstract

DNA was recovered from sections of muscles 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.

Original languageEnglish
Pages (from-to)221-226
Number of pages6
JournalMolecular and Cellular Probes
Volume7
Issue number3
DOIs
Publication statusPublished - Jun 1993

Keywords

  • Slide-PCR, microsatellites, spinal muscular atrophy

ASJC Scopus subject areas

  • Molecular Biology
  • Cell Biology

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