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Titolo:
A NOVEL NONSENSE MUTATION IN THE PKD1 GENE (C3817T) IS ASSOCIATED WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN A LARGE 3-GENERATION ITALIAN FAMILY
Autore:
TURCO AE; ROSSETTI S; BRESIN E; CORRA S; GAMMARO L; MASCHIO G; PIGNATTI PF;
Indirizzi:
UNIV VERONA,SCH MED,INST BIOL & GENET I-37134 VERONA ITALY UNIV VERONA,SCH MED,DIV MED NEPHROL I-37134 VERONA ITALY
Titolo Testata:
Human molecular genetics
fascicolo: 8, volume: 4, anno: 1995,
pagine: 1331 - 1335
SICI:
0964-6906(1995)4:8<1331:ANNMIT>2.0.ZU;2-D
Fonte:
ISI
Lingua:
ENG
Soggetto:
DIAGNOSIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
20
Recensione:
Indirizzi per estratti:
Citazione:
A.E. Turco et al., "A NOVEL NONSENSE MUTATION IN THE PKD1 GENE (C3817T) IS ASSOCIATED WITH AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE (ADPKD) IN A LARGE 3-GENERATION ITALIAN FAMILY", Human molecular genetics, 4(8), 1995, pp. 1331-1335

Abstract

We have looked for disease-causing mutations in the PKD1 gene in 20 unrelated ADPKD probands from northern Italy, all members of families in which our previous studies had indicated linkage to PKD1, Using PCR with primer pairs located in the 3' unique region of the gene and heteroduplex DNA analysis, we have detected novel aberrant bands in five affected individuals from the same family, which were absent in 13 other unaffected family members, Cloning and automated DNA sequencing revealed a C to T transition at nucleotide position 3817 of the published cDNA sequence, which created a premature stop codon, The mutation destroyed a MspA1l restriction site, and the abnormal restriction pattern was observed on genomic DNA from all the affected family members, RT-PCR and restriction analysis performed on peripheral white blood cell mRNA showed that in the affected members, both the mutant and the normal transcript are represented, This mutation was not found in the probands of the other families studied, To our knowledge, this is the firstnonsense mutation described in the PKD1 gene.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 04/12/20 alle ore 01:37:55