Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR

Jesús Purroy, Luigi Bisceglia, Jaak Jaeken, Paolo Gasparini, Manuel Palacín, Virginia Nunes

Research output: Contribution to journalArticlepeer-review

Abstract

Cystinuria is an autosomal recessive aminoaciduria in which two clinical types have been described (type I and non-type I). Cystinuria type I is caused by mutations in SLC3A1, a gene located in 2p16 coding for an amino acid transporter named rBAT. Using multiplex semi-quantitative fluorescent PCR, we amplified the ten exons of SLC3A1 together with exon 5 of DSCR1 (located on chromosome 21) as a double-dose control gene. We detected two large novel deletions in a Belgian family, one comprising exons 2-10 and another one at exon 10. The method described here can be used to detect a range of deletions from single-base differences in size to entire missing exons, making it useful for scanning genes with a small to medium number of exons.

Original languageEnglish
Pages (from-to)373-379
Number of pages7
JournalHuman Mutation
Volume15
Issue number4
DOIs
Publication statusPublished - 2000

Keywords

  • Cystinuria
  • Fluorescent
  • Multiplex
  • PCR
  • Semi-quantitative
  • SLC3A1

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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