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Detection of two novel large deletions in SLC3A1 by semi‐quantitative fluorescent multiplex PCR
Author(s) -
Purroy Jesús,
Bisceglia Luigi,
Jaeken Jaak,
Gasparini Paolo,
Palacín Manuel,
Nunes Virginia
Publication year - 2000
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/(sici)1098-1004(200004)15:4<373::aid-humu10>3.0.co;2-o
Subject(s) - biology , multiplex , fluorescence , multiplex polymerase chain reaction , microbiology and biotechnology , genetics , computational biology , polymerase chain reaction , gene , physics , quantum mechanics
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. Hum Mutat 15:373–379, 2000. © 2000 Wiley‐Liss, Inc.