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.
authors.affiliation: Dipartimento di Biologia, Università Tor Vergata, Roma, Italia.
authors.forename: L
authors.initials: L
authors.lastname: Veneziano
authors.forename: A R
authors.initials: AR
authors.lastname: D'Angelo
authors.forename: L
authors.initials: L
authors.lastname: Burrai
authors.forename: G
authors.initials: G
authors.lastname: Perugia
authors.forename: V
authors.initials: V
authors.lastname: Gentile
authors.forename: L
authors.initials: L
authors.lastname: Potenza
authors.forename: M P
authors.initials: MP
authors.lastname: Iampieri
authors.forename: A
authors.initials: A
authors.lastname: Novelletto
authors.forename: G
authors.initials: G
authors.lastname: Novelli
authors.forename: M
authors.initials: M
authors.lastname: Frontali
mesh_terms: D004247:DNA / Q000032:analysis*; D008040:Genetic Linkage; D005819:Genetic Markers; D006801:Humans; D010375:Pedigree; D016891:Polycystic Kidney, Autosomal Dominant / Q000175:diagnosis* / Q000235:genetics; D011110:Polymorphism, Genetic; D011296:Prenatal Diagnosis
chemical_list: D005819:Genetic Markers; D004247:DNA