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Titolo:
A COMMON POLYMORPHISM IN EXON-46 OF THE HUMAN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE-1 GENE (PKD1)
Autore:
BRESIN E; ROSSETTI S; ENGLISCH S; CORRA S; PIGNATTI PF; TURCO AE;
Indirizzi:
UNIV VERONA,SCH MED,HOSP POLYCLIN BORGO ROMA,INST BIOL & GENET,STRADAGRAZIE 8 I-37134 VERONA ITALY UNIV VERONA,SCH MED,HOSP POLYCLIN BORGO ROMA,INST BIOL & GENET I-37134 VERONA ITALY
Titolo Testata:
Molecular and cellular probes
fascicolo: 6, volume: 10, anno: 1996,
pagine: 463 - 465
SICI:
0890-8508(1996)10:6<463:ACPIEO>2.0.ZU;2-S
Fonte:
ISI
Lingua:
ENG
Soggetto:
2ND GENE; LOCALIZATION; MUTATIONS; DELETION; FAMILY; LOCUS;
Keywords:
PKD1 GENE; ADPKD; POLYMORPHISM; PCR;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Science Citation Index Expanded
Science Citation Index Expanded
Citazioni:
19
Recensione:
Indirizzi per estratti:
Citazione:
E. Bresin et al., "A COMMON POLYMORPHISM IN EXON-46 OF THE HUMAN AUTOSOMAL-DOMINANT POLYCYSTIC KIDNEY-DISEASE-1 GENE (PKD1)", Molecular and cellular probes, 10(6), 1996, pp. 463-465

Abstract

Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common single gene diseases in humans. We have identified a synonymous T to C transition polymorphism in exon 46 of the PKD1 gene (12838T-->C, Pro4209Pro). The polymorphism was present with similar frequencies in ADPKD patients and unaffected individuals. The heterozygosity, determined in 89 Italian individuals, was 0.347. The frequency of the rarer allele was 0.222. This polymorphism is easy to determine as it abolishes a naturally occurring Ddel restriction site. The availability of an additional intragenic marker in the PKD1 gene will improve the accuracy of linkage studies in ADPKD families. (C) 1996 Academic Press Limited

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 03/12/20 alle ore 21:49:31