Molecular screening of genetic defects with RNA-SSCP analysis: The PKU and cystinuria model

S. Giannattasio, L. Bisceglia, P. Lattanzio, A. Grifa, I. Dianzani, P. Gasparini, E. Marra

Research output: Contribution to journalArticlepeer-review


RNA single-strand conformation polymorphism (rSSCP) is a recently developed method for detecting genetic defects. This technique requires DNA amplification with a polymerase chain reaction making use of one γ7 promoter-containing primer. Amplification products are subsequently transcribed in vitro and the labelled transcripts are analysed for single-strand conformation changes. rSSCP has been applied to mutation screening of the phenylalanine hydroxylase gene and rBAT cDNA, from PKU and cystinuric patients, respectively. Experimental evidence shows that 83% and 86% of screened PKU and cystinuric mutations, respectively, give rise to detectable rSSCP signals. Thus, results obtained show that RNA single-strand conformation polymorphism analysis is generally applicable and is a suitable technique for detecting genetic disease causing mutations, both in basic research and in clinical practice.

Original languageEnglish
Pages (from-to)201-205
Number of pages5
JournalMolecular and Cellular Probes
Issue number3
Publication statusPublished - 1995


  • Cystinuria
  • Mutations
  • Phenylketonuria
  • Screening

ASJC Scopus subject areas

  • Cell Biology
  • Molecular Biology


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