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Titolo:
Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1
Autore:
Feliubadalo, L; Bisceglia, L; Font, M; Dello Strologo, L; Beccia, E; Arslan-Kirchner, M; Steinmann, B; Zelante, L; Estivill, X; Zorzano, A; Palacin, M; Gasparini, P; Nunes, V;
Indirizzi:
Hosp Duran & Reynals, Ctr Genet Med & Mol IRO, Autovia Castelldefels, E-08907 Barcelona, Spain Hosp Duran & Reynals Barcelona Spain E-08907 s, E-08907 Barcelona, Spain Univ Barcelona, Fac Biol, Dept Bioquim & Biol Mol, E-08028 Barcelona, Spain Univ Barcelona Barcelona Spain E-08028 iol Mol, E-08028 Barcelona, Spain Serv Genet Med, Foggia, Italy Serv Genet Med Foggia ItalyServ Genet Med, Foggia, Italy Div Urol, Casa Sollievo della Sofferenza, Foggia, Italy Div Urol Foggia Italy ol, Casa Sollievo della Sofferenza, Foggia, Italy Osped Pediat Bambino Gesu, Div Nefrol & Dialisi, IRCCS, Rome, Italy Osped Pediat Bambino Gesu Rome Italy frol & Dialisi, IRCCS, Rome, Italy Hannover Med Sch, Dept Human Genet, D-3000 Hannover, Germany Hannover Med Sch Hannover Germany D-3000 Genet, D-3000 Hannover, Germany Univ Zurich, Childrens Hosp, Div Metab & Mol Dis, CH-8032 Zurich, Switzerland Univ Zurich Zurich Switzerland CH-8032 Dis, CH-8032 Zurich, Switzerland
Titolo Testata:
GENOMICS
fascicolo: 3, volume: 60, anno: 1999,
pagine: 362 - 365
SICI:
0888-7543(19990915)60:3<362:RFLTGF>2.0.ZU;2-K
Fonte:
ISI
Lingua:
ENG
Soggetto:
AMINO-ACID-TRANSPORT; METRIC PHYSICAL MAP; EXPRESSION CLONING; SLC3A1 GENE; RAT-KIDNEY; HUMAN-CHROMOSOME-19; IDENTIFICATION; HETEROGENEITY; CDNA;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
21
Recensione:
Indirizzi per estratti:
Indirizzo: Nunes, V Hosp Duran & Reynals, Ctr Genet Med & Mol IRO, Autovia Castelldefels, Km 2-7, E-08907 Barcelona, Spain Hosp Duran & Reynals Km 2-7 Barcelona Spain E-08907 elona, Spain
Citazione:
L. Feliubadalo et al., "Recombinant families locate the gene for non-type I cystinuria between markers C13 and D19S587 on chromosome 19q13.1", GENOMICS, 60(3), 1999, pp. 362-365

Abstract

Cystinuria is an autosomal recessive aminoaciduria in which three urinary phenotypes have been described. The gene responsible for type I, SLC3A1, encodes the amino acid transporter rBAT. This gene is not responsible for types II or III. Recently the type III locus (CSNU3) was mapped by two groups to overlapping 6-Mb regions on chromosome 19q. In the present study, we restrict the critical region for non-type I cystinuria to 2.4 Mb by recombination analysis in Italian, German, and Spanish families. For this purpose, wehave used the microsatellite markers described in the region plus new microsatellites that we have developed. Our results locate the non-type I cystinuria gene in an interval flanked by the markers C13 and D19S587, which areabout 2.8 cM apart. (C) 1999 Academic Press.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 01/12/20 alle ore 22:52:41