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Titolo:
A NOVEL MISSENSE MUTATION IN EXON-3 OF THE COL4A5 GENE ASSOCIATED WITH LATE-ONSET ALPORT SYNDROME
Autore:
TURCO AE; ROSSETTI S; BIASI MO; RIZZONI G; MASSELLA L; SAARINEN NH; RENIERI A; PIGNATTI PF; DEMARCHI M;
Indirizzi:
UNIV VERONA,HOSP POLYCLIN BORGO ROMA,SCH MED,INST GENET,ST LE GRAZIE 8 I-37134 VERONA ITALY PEDIAT HOSP BAMBINO GESU,IRCCS,DIV NEPHROL ROME ITALY UNIV OULU,DEPT BIOCHEM OULU FINLAND UNIV OULU,BIOCTR OULU FINLAND UNIV SIENA,DEPT MOLEC BIOL & MED GENET SIENA ITALY UNIV TURIN,DEPT CLIN & BIOL SCI ORBASSANO ITALY
Titolo Testata:
Clinical genetics
fascicolo: 5, volume: 48, anno: 1995,
pagine: 261 - 263
SICI:
0009-9163(1995)48:5<261:ANMMIE>2.0.ZU;2-Y
Fonte:
ISI
Lingua:
ENG
Soggetto:
ALPHA-5(IV) COLLAGEN CHAIN; IDENTIFICATION;
Keywords:
ALPORT SYNDROME; COL4A5 GENE; HETERODUPLEX ANALYSIS; MUTATION DETECTION; SSCP ANALYSIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
13
Recensione:
Indirizzi per estratti:
Citazione:
A.E. Turco et al., "A NOVEL MISSENSE MUTATION IN EXON-3 OF THE COL4A5 GENE ASSOCIATED WITH LATE-ONSET ALPORT SYNDROME", Clinical genetics, 48(5), 1995, pp. 261-263

Abstract

We have identified a novel missense transition (362G-->A) in exon 3 of the COL4A5 gene in a male patient with late-onset Alport syndrome. We used non-isotopic single strand conformation polymorphism, heteroduplex analysis, and automated DNA sequencing. The mutation changes a conserved glycine at codon 54 for an aspartic acid (Gly54Asp), which abolishes a BstNI site. Using restriction analysis, we identified the heterozygous carrier status in the two daughters of the proband. Our findings are in keeping with the hypothesis that slower progressive forms of Alport syndrome are more often associated with missense mutations rather than large deletions or frameshifts. This is the first mutation described in the N-terminus triple helical 7S domain of the COL4A5 genein an Alport syndrome patient.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/11/20 alle ore 09:20:21