title: Detection of two novel large deletions in SLC3A1 by semi-quantitative fluorescent multiplex PCR.
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.
authors.affiliation: Centre de Genètica Mèdica i Molecular-IRO, L'Hospitalet de Llobregat, Spain.
authors.forename: J
authors.initials: J
authors.lastname: Purroy
authors.forename: L
authors.initials: L
authors.lastname: Bisceglia
authors.forename: J
authors.initials: J
authors.lastname: Jaeken
authors.forename: P
authors.initials: P
authors.lastname: Gasparini
authors.forename: M
authors.initials: M
authors.lastname: Palacín
authors.forename: V
authors.initials: V
authors.lastname: Nunes
mesh_terms: D026923:Amino Acid Transport Systems, Basic; D015139:Blotting, Southern; D002352:Carrier Proteins / Q000235:genetics*; D003555:Cystinuria / Q000235:genetics; D005091:Exons / Q000235:genetics; D005260:Female; D005456:Fluorescent Dyes / Q000378:metabolism; D005784:Gene Amplification; D006579:Heterozygote; D006801:Humans; D008297:Male; D008562:Membrane Glycoproteins / Q000235:genetics*; D016133:Polymerase Chain Reaction / Q000379:methods*; D017384:Sequence Deletion / Q000235:genetics*
chemical_list: D026923:Amino Acid Transport Systems, Basic; D002352:Carrier Proteins; D005456:Fluorescent Dyes; D008562:Membrane Glycoproteins; C499489:SLC7A9 protein, human