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Titolo:
Linkage of Type II and Type III cystinuria to 19q13.1: Codominant inheritance of two cystinuric alleles at 19q13.1 produces an extreme stone-forming phenotype
Autore:
Stoller, ML; Bruce, JE; Bruce, CA; Foroud, T; Kirkwood, SC; Stambrook, PJ;
Indirizzi:
Univ Cincinnati, Coll Med, Dept Cell Biol Neurobiol & Anat, Cincinnati, OH45267 USA Univ Cincinnati Cincinnati OH USA 45267 l & Anat, Cincinnati, OH45267 USA Univ Calif San Francisco, Dept Urol, San Francisco, CA 94143 USA Univ Calif San Francisco San Francisco CA USA 94143 ancisco, CA 94143 USA Indiana Univ, Sch Med, Dept Med & Mol Genet, Indianapolis, IN USA Indiana Univ Indianapolis IN USA t Med & Mol Genet, Indianapolis, IN USA
Titolo Testata:
AMERICAN JOURNAL OF MEDICAL GENETICS
fascicolo: 2, volume: 86, anno: 1999,
pagine: 134 - 139
SICI:
0148-7299(19990910)86:2<134:LOTIAT>2.0.ZU;2-8
Fonte:
ISI
Lingua:
ENG
Soggetto:
BRUSH-BORDER VESICLES; DIBASIC AMINO-ACIDS; GENE; MUTATIONS; TRANSPORT; RBAT; IDENTIFICATION; CELLS;
Keywords:
cystinuria; metabolic disease; linkage; human genetics; kidney stone disease;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Life Sciences
Citazioni:
25
Recensione:
Indirizzi per estratti:
Indirizzo: Stambrook, PJ Univ Cincinnati, Coll Med, Dept Cell Biol Neurobiol & Anat, POB 670521, Cincinnati, OH 45267 USA Univ Cincinnati POB 670521 Cincinnati OH USA 45267 45267 USA
Citazione:
M.L. Stoller et al., "Linkage of Type II and Type III cystinuria to 19q13.1: Codominant inheritance of two cystinuric alleles at 19q13.1 produces an extreme stone-forming phenotype", AM J MED G, 86(2), 1999, pp. 134-139

Abstract

Cystinuria, a renal tubule disease affecting urinary cystine excretion with or without kidney stone formation, previously was mapped to chromosome region 2p.21, Mutations in the gene SLC3A1 or NBAT, the reported candidate gene for cystinuria at 2p.21, have been demonstrated in individuals with the autosomal recessive Type I cystinuria phenotype. Recently, the Type III cystinuria phenotype was mapped to chromosome region 19q13.1, Here we report akindred of 39 persons in two families of cystinurics, Types II and III, that support linkage to 19q13.1 and exclude 2p.21, Based on a dominant model of inheritance, two-point analysis of the entire pedigree produced a maximum lod score (Z(max)) of 3.82 at marker D19S425. Multipoint analysis yieldeda lod score of 4.96 at this marker, and a resultant lod score of 5.90 using a codominant model of inheritance. Furthermore, a candidate gene intervalof 8.9 cM, flanked by markers D19S225 and D19S223, was obtained using multipoint and haplotype analyses. Thus, this kindred demonstrates the linkage of Type II cystinuria to 19q13.1 and confirms the linkage of Type III cystinuria at 19q13.1 while excluding the marker D19S225 that was previously included in the critical interval. (C) 1999 Wiley-Liss, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 06/07/20 alle ore 04:25:34