We report the results of a biological and molecular study carried out on 11 Italian families, with a total of 111 individuals in which adult dominant polycystic kidney disease segregates. A restriction fragment length polymorphism analysis was performed. Two families have shown a genetic heterogeneity even if not phenotypically different from the other ones: they resulted unlinked to 16p markers. A prenatal diagnosis has been performed in a family of the linked type.

DNA markers in diagnosis of adult dominant polycystic kidney disease

Veneziano L;Frontali M
1992

Abstract

We report the results of a biological and molecular study carried out on 11 Italian families, with a total of 111 individuals in which adult dominant polycystic kidney disease segregates. A restriction fragment length polymorphism analysis was performed. Two families have shown a genetic heterogeneity even if not phenotypically different from the other ones: they resulted unlinked to 16p markers. A prenatal diagnosis has been performed in a family of the linked type.
1992
Inglese
21
57
59
3
Sì, ma tipo non specificato
Autosomal Dominant Polycystic Kidney Disease
Presymptomatic diagnosis
DNA
Genetic Heterogeneity
2
info:eu-repo/semantics/article
262
Veneziano L; D'Angelo AR; Burrai L; Perugia G; Gentile V; Potenza L; Iampieri MP; Novelletto A; Novelli G; Frontali M.
01 Contributo su Rivista::01.01 Articolo in rivista
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Utilizza questo identificativo per citare o creare un link a questo documento: https://hdl.handle.net/20.500.14243/163898
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