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Titolo:
RAPID DNA-BASED PRENATAL-DIAGNOSIS BY GENETIC-LINKAGE IN 3 FAMILIES WITH ALPORTS-SYNDROME
Autore:
TURCO AE; BRESIN E; ROSSETTI S; PETERLIN B; MORANDI R; PIGNATTI PF;
Indirizzi:
UNIV HOSP VERONA,POLICLIN BORGO ROMA,SCH MED,GENET INST,STR GRAZIE 8 I-37134 VERONA ITALY DEPT OBSTET & GYNECOL,DIV MED GENET LJUBLJANA SLOVENIA UNIV BOLOGNA,DEPT OBSTET & GYNECOL,PRENATAL PATHOPHYSIOL UNIT BOLOGNAITALY
Titolo Testata:
American journal of kidney diseases
fascicolo: 2, volume: 30, anno: 1997,
pagine: 174 - 179
SICI:
0272-6386(1997)30:2<174:RDPBGI>2.0.ZU;2-2
Fonte:
ISI
Lingua:
ENG
Soggetto:
COL4A5 COLLAGEN GENE; MUTATIONS; IDENTIFICATION; HETEROGENEITY; DISEASE; REPEAT; CHAIN;
Keywords:
ALPORTS SYNDROME; LINKAGE ANALYSIS; GENETIC HETEROGENEITY; GENETIC COUNSELING; PRENATAL DIAGNOSIS; MOLECULAR DIAGNOSIS;
Tipo documento:
Article
Natura:
Periodico
Settore Disciplinare:
Science Citation Index Expanded
Citazioni:
27
Recensione:
Indirizzi per estratti:
Citazione:
A.E. Turco et al., "RAPID DNA-BASED PRENATAL-DIAGNOSIS BY GENETIC-LINKAGE IN 3 FAMILIES WITH ALPORTS-SYNDROME", American journal of kidney diseases, 30(2), 1997, pp. 174-179

Abstract

Alport's syndrome (AS) is a clinically and genetically heterogeneous progressive inherited glomerulonephritis characterized by hematuria, sensorineural hearing loss, ocular lesions, and specific alterations ofthe glomerular basement membrane. Typically, AS shows an X-linked dominant pattern of inheritance, with mutations affecting the collagen type IV alpha5 chain gene (COL4A5) at Xq22. Rarely, AS is caused in somefamilies by mutations of the COL4A3/A4 genes on chromosome 2q, showing an autosomal recessive transmission. Very few families have been described with possible autosomal dominant AS, but no mutations in any ofthe COL4 genes have been found. We describe three unrelated families affected with a severe AS phenotype in which DNA-based prenatal diagnosis by linkage analysis was made in fetuses at risk for the disease. In two families, the pedigree structure and the clinical picture were consistent with typical X-linked dominant AS. In these families, autosomal inheritance was also ruled out molecularly. In one family, despitecareful clinical and molecular evaluation, the mode of transmission could not be firmly established. We used tightly linked and intragenic COL4A5 markers, as well as COL4A3/A4-linked markers. A chromosome Y-specific marker for fetal sex determination was simultaneously used. In all the families, before the fetal analysis, the putative at-risk X haplotype was identified with high diagnostic accuracy. We diagnosed a healthy male fetus in one family, and female but carrier fetuses in theother two kindreds, who decided not to terminate their pregnancies. We used rapid nonisotopic polymerase chain reaction-based methods, and the results were available within 2 to 3 days. The genetic results significantly affected the reproductive decisions of the parents. This report illustrates the application of genetic linkage analysis as an additional tool for molecular diagnosis in AS, and also addresses the issue of the attitudes of the families toward prenatal testing. To our knowledge, prenatal diagnosis of AS using a genetic linkage approach hasnot been previously reported. (C) 1997 by the National Kidney Foundation, Inc.

ASDD Area Sistemi Dipartimentali e Documentali, Università di Bologna, Catalogo delle riviste ed altri periodici
Documento generato il 29/11/20 alle ore 07:47:52