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

Hum Mutat. 2000;15(4):373-9. doi: 10.1002/(SICI)1098-1004(200004)15:4<373::AID-HUMU10>3.0.CO;2-O.


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.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Amino Acid Transport Systems, Basic*
  • Blotting, Southern
  • Carrier Proteins / genetics*
  • Cystinuria / genetics
  • Exons / genetics
  • Female
  • Fluorescent Dyes / metabolism
  • Gene Amplification
  • Heterozygote
  • Humans
  • Male
  • Membrane Glycoproteins / genetics*
  • Polymerase Chain Reaction / methods*
  • Sequence Deletion / genetics*


  • Amino Acid Transport Systems, Basic
  • Carrier Proteins
  • Fluorescent Dyes
  • Membrane Glycoproteins
  • SLC7A9 protein, human