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Titolo:
Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients
Autore:
Harnevik, L; Fjellstedt, E; Molbaek, A; Tiselius, HG; Denneberg, T; Soderkvist, P;
Indirizzi:
Fac Hlth Sci, Dept Biomed & Surg, Div Cell Biol, SE-58185 Linkoping, Sweden Fac Hlth Sci Linkoping Sweden SE-58185 Biol, SE-58185 Linkoping, Sweden Motala Hosp, Dept Internal Med, Motala, Sweden Motala Hosp Motala Sweden otala Hosp, Dept Internal Med, Motala, Sweden Huddinge Univ Hosp, Dept Urol, S-14186 Huddinge, Sweden Huddinge Univ Hosp Huddinge Sweden S-14186 rol, S-14186 Huddinge, Sweden Fac Hlth Sci, Dept Biomed & Surg, Div Urol, SE-58185 Linkoping, Sweden FacHlth Sci Linkoping Sweden SE-58185 Urol, SE-58185 Linkoping, Sweden
Titolo Testata:
HUMAN MUTATION
fascicolo: 6, volume: 18, anno: 2001,
pagine: 516 - 525
SICI:
1059-7794(2001)18:6<516:IO1NMI>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
AMINO-ACID-TRANSPORT; MOLECULAR-GENETICS; POINT MUTATIONS; RBAT; LOCALIZATION; POLYMORPHISM; HETEROGENEITY; CLONING; CDNA;
Keywords:
cystinuria; CSNU; CNSU1; CNSU3; SLC3A1; SLC7A9; transporter; amino acid;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
33
Recensione:
Indirizzi per estratti:
Indirizzo: Soderkvist, P Fac Hlth Sci, Dept Biomed & Surg, Div Cell Biol, SE-58185 Linkoping, Sweden Fac Hlth Sci Linkoping Sweden SE-58185 5 Linkoping, Sweden
Citazione:
L. Harnevik et al., "Identification of 12 novel mutations in the SLC3A1 gene in Swedish cystinuria patients", HUM MUTAT, 18(6), 2001, pp. 516-525

Abstract

Cystinuria is an autosomal recessive disorder that affects luminal transport of cystine and dibasic amino acids in the kidneys and the small intestine. Three subtypes of cystinuria can be defined biochemically, and the classical form (type I) has been associated with mutations in the amino acid transporter gene SLC3A1. The mutations detected in SLC3A1 tend to be population specific and have not been previously investigated in Sweden. We have screened the entire coding sequence and the intron/exon boundaries of the SLC3A1 gene in 53 cystinuria patients by means of single strand conformation polymorphism (SSCP) and DNA sequencing. We identified 12 novel mutations (a 2bp deletion, one splice site mutation, and 10 missense mutations) and detected another three mutations that were previously reported. Five polymorphisms were also identified, four of which were formerly described. The most frequent mutation in this study was the previously reported M467T and it wasalso detected in the normal population with an allelic frequency of 0.5%. Thirty,seven patients were homozygous for mutations in the SLC3A1 gene and another seven were heterozygous which implies that other genes may be involved in cystinuria. Future investigation of the non-type I cystinuria gene SLC7A9 may complement our results but recent studies also suggest the presence of other potential disease genes. Hum Mutat 18:516-525, 2001. (C) 2001 Wiley-Liss, Inc.

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Documento generato il 28/01/20 alle ore 21:00:16