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Titolo:
X-LINKED ALPORT-SYNDROME - AN SSCP-BASED MUTATION SURVEY OVER ALL 51 EXONS OF THE COL4A5 GENE
Autore:
RENIERI A; BRUTTINI M; GALLI L; ZANELLI P; NERI T; ROSSETTI S; TURCO A; HEISKARI N; ZHOU J; GUSMANO R; MASSELLA L; BANFI G; SCOLARI F; SESSA A; RIZZONI G; TRYGGVASON K; PIGNATTI PF; SAVI M; BALLABIO A; DEMARCHI M;
Indirizzi:
POLICLIN LE SCOTTE,DEPT BIOL MOLEC,VIALE BRACCI 2 I-53100 SIENA ITALY UNIV PARMA I-43100 PARMA ITALY UNIV VERONA,INST BIOL SCI & GENET I-37100 VERONA ITALY DEPT BIOCHEM OULU FINLAND BIOCTR OULU OULU FINLAND BRIGHAM & WOMENS HOSP,DEPT MED BOSTON MA 02115 HARVARD UNIV,SCH MED BOSTON MA 00000 IST GIANNINA GASLINI,DEPT PEDIAT NEPHROL I-16148 GENOA ITALY OSPED BAMBINO GESU,DEPT PEDIAT NEPHROL ROME ITALY POLICLIN MAGGIORE,DEPT NEPHROL MILAN ITALY SPEDALI CIVILE,DEPT NEPHROL BRESCIA ITALY OSPED VIMERCATE,DEPT NEPHROL VIMERCATE ITALY UNIV TURIN,DEPT CLIN & BIOL SCI TURIN ITALY
Titolo Testata:
American journal of human genetics
fascicolo: 6, volume: 58, anno: 1996,
pagine: 1192 - 1204
SICI:
0002-9297(1996)58:6<1192:XA-ASM>2.0.ZU;2-1
Fonte:
ISI
Lingua:
ENG
Soggetto:
COLLAGEN GENE; CHAIN; IDENTIFICATION; HETEROGENEITY; DELETIONS; GLYCINE;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
44
Recensione:
Indirizzi per estratti:
Citazione:
A. Renieri et al., "X-LINKED ALPORT-SYNDROME - AN SSCP-BASED MUTATION SURVEY OVER ALL 51 EXONS OF THE COL4A5 GENE", American journal of human genetics, 58(6), 1996, pp. 1192-1204

Abstract

The COL4A5 gene encodes the alpha 5 (type IV) collagen chain and is defective in X-linked Alport syndrome (AS). Here, we report the first systematic analysis of all 51 exons of COL4A5 gene in a series of 201 Italian AS patients. We have previously reported nine major rearrangements, as well as 18 small mutations identified in the same patient series by SSCP analysis of several exons. After systematic analysis of all51 exons of COL4A5, we have now identified 30 different mutations: 10glycine substitutions in the triple helical domain of the protein, 3 frameshift mutations, 4 in-frame deletions, 1 start codon, 1 nonsense,and 5 splice-site mutations. These mutations were either unique or found in two unrelated families, thus excluding the presence of a commonmutation in the coding part of the gene. Overall, mutations were detected in only 45% of individuals with a certain or likely diagnosis of X-linked AS. This finding suggests that mutations in noncoding segments of COL4A5 account for a high number of X-linked AS cases. An alternative hypothesis is the presence of locus heterogeneity, even within the X-linked form of the disease. A genotype/phenotype comparison enabled us to better substantiate a significant correlation between the degree of predicted disruption of the alpha 5 chain and the severity of phenotype in affected male individuals. Our study has significant implications in the diagnosis and follow-up of AS patients.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/11/20 alle ore 10:26:03