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  • Rapid DNA-based prenatal diagnosis by genetic linkage in three families with Alport's syndrome
    Turco, Alberto E... ...
    Alport's syndrome (AS) is a clinically and genetically heterogeneous progressive inherited glomerulonephritis characterized by hematuria, sensorineural hearing loss, ocular lesions, and specific ... alterations of the glomerular basement membrane. Typically, AS shows an X-linked dominant patternof inheritance, with mutations affecting the collagen type IV alpha5 chain gene (COL4A5) at Xq22. Rarely, AS is caused in some families 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 of the 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. Inthese families, autosomal inheritance was also ruled out molecularly. In onefamily, despite careful 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 inone family, and female but carrier fetuses in the other two kindreds, who decided not to terminate their pregnancies. We used rapid nonisotopic polymerase chain reactionbased methods, and the results were available within 2 do 3 days. The genetic significantly affected the reproductive decisions of the parents. (abstract truncated at 2000 characters.)
    Vir: American journal of kidney diseases. - ISSN 0272-6386 (Let. 30, št. 2, 1997, str. 174-179)
    Vrsta gradiva - članek, sestavni del
    Leto - 1997
    Jezik - angleški
    COBISS.SI-ID - 7048665

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