DNA markers in diagnosis of adult dominant polycystic kidney disease

L. Venezianoa; A. R. D'Angelo; L. Burrai; G. Perugia; V. Gentile; L. Potenza; M. P. Iampieri; A. Novelletto; G. Novelli; M. Frontali

DNA markers in diagnosis of adult dominant polycystic kidney disease

L. Venezianoa, A. R. D'Angelo, L. Burrai, G. Perugia, V. Gentile, L. Potenza, M. P. Iampieri, A. Novelletto, G. Novelli, M. Frontali

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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.

Original language	English
Pages (from-to)	57-59
Number of pages	3
Journal	European Urology
Volume	21
Issue number	SUPPL. 1
Publication status	Published - 1992

Keywords

Autosomal-dominant polycystic kidney disease
DNA
Genetic heterogeneity
Presymptomatic diagnosis

ASJC Scopus subject areas

Urology

Cite this

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title = "DNA markers in diagnosis of adult dominant polycystic kidney disease",

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.",

keywords = "Autosomal-dominant polycystic kidney disease, DNA, Genetic heterogeneity, Presymptomatic diagnosis",

author = "L. Venezianoa and D'Angelo, {A. R.} and L. Burrai and G. Perugia and V. Gentile and L. Potenza and Iampieri, {M. P.} and A. Novelletto and G. Novelli and M. Frontali",

year = "1992",

language = "English",

volume = "21",

pages = "57--59",

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T1 - DNA markers in diagnosis of adult dominant polycystic kidney disease

AU - Venezianoa, L.

AU - D'Angelo, A. R.

AU - Burrai, L.

AU - Perugia, G.

AU - Gentile, V.

AU - Potenza, L.

AU - Iampieri, M. P.

AU - Novelletto, A.

AU - Novelli, G.

AU - Frontali, M.

PY - 1992

Y1 - 1992

N2 - 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.

AB - 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.

KW - Autosomal-dominant polycystic kidney disease

KW - DNA

KW - Genetic heterogeneity

KW - Presymptomatic diagnosis

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JO - European Urology

JF - European Urology

SN - 0302-2838

IS - SUPPL. 1

ER -

DNA markers in diagnosis of adult dominant polycystic kidney disease

Abstract

Keywords

ASJC Scopus subject areas

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