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Titolo:
Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12
Autore:
Pirulli, D; Puzzer, D; De Fusco, M; Crovella, S; Amoroso, A; Scolari, F; Viola, BF; Maiorca, R; Caridi, G; Savoldi, S; Ghiggeri, G; Casari, G;
Indirizzi:
Univ Trieste, Chair Genet, Reprod & Dev Dept, Trieste, Italy Univ TriesteTrieste Italy air Genet, Reprod & Dev Dept, Trieste, Italy
Titolo Testata:
JOURNAL OF NEPHROLOGY
fascicolo: 5, volume: 14, anno: 2001,
pagine: 392 - 396
SICI:
1121-8428(200109/10)14:5<392:MAOUAS>2.0.ZU;2-N
Fonte:
ISI
Lingua:
ENG
Soggetto:
JUVENILE HYPERURICEMIC NEPHROPATHY; TAMM-HORSFALL PROTEIN; LOCALIZATION; LOCUS; LINKAGE; CLONING; FAMILY;
Keywords:
ADMCKD2; mutation; DNA sequencing; SAH; uromodulin;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Clinical Medicine
Citazioni:
19
Recensione:
Indirizzi per estratti:
Indirizzo: Amoroso, A IRCCS Burlo Garofolo, Serv Genet, Via dell Istria 65-1, I-34137Trieste, Italy IRCCS Burlo Garofolo Via dell Istria 65-1 Trieste Italy I-34137
Citazione:
D. Pirulli et al., "Molecular analysis of uromodulin and SAH genes, positional candidates for autosomal dominant medullary cystic kidney disease linked to 16p12", J NEPHROL, 14(5), 2001, pp. 392-396

Abstract

Background. The location of a second genetic locus for autosomal dominant medullary cystic kidney disease (ADMCKD) at chromosome 16p12 led us to further investigate the molecular analysis of the critical region where two genes coding for uromodulin and SA proteins with renal specific functions, UMOD and SAH, are localized. Methods: We characterized the intron-exon boundary sequences by screening phage and BAC DNA genomic clones for the development of new molecular toolsfunctional to the mutation analysis of UMOD and SAH genes. Results: No consistent mutations for ADMCKD2 were found in the UMOD and SAH genes. We identified a silent polymorphism in the UMOD gene at codon C174which co-segregates with the disease in the ADMCKD2 family. Conclusions: This study excludes the involvement of uromodulin and SAH genes in ADMCKD2, and provides new tools for their molecular analysis in otherdiseases.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 30/09/20 alle ore 08:27:16