title: A common polymorphism in exon 46 of the human autosomal dominant polycystic kidney disease 1 gene (PKD1).
abstract: Autosomal dominant polycystic kidney disease (ADPKD) is one of the most common single gene diseases in humans. We have identified a synonymous T to C transition polymorphism in exon 46 of the PKD1 gene (12838T-->C, Pro4209Pro). The polymorphism was present with similar frequencies in ADPKD patients and unaffected individuals. The heterozygosity, determined in 89 Italian individuals, was 0.347. The frequency of the rarer allele was 0.222. This polymorphism is easy to determine as it abolishes a naturally occurring Ddel restriction site. The availability of an additional intragenic marker in the PKD1 gene will improve the accuracy of linkage studies in ADPKD families.
authors.affiliation: Institute of Biology and Genetics, University Hospital Polyclinic Borgo Roma, Italy.
authors.forename: E
authors.initials: E
authors.lastname: Bresin
authors.forename: S
authors.initials: S
authors.lastname: Rossetti
authors.forename: S
authors.initials: S
authors.lastname: Englisch
authors.forename: S
authors.initials: S
authors.lastname: Corrà
authors.forename: P F
authors.initials: PF
authors.lastname: Pignatti
authors.forename: A E
authors.initials: AE
authors.lastname: Turco
mesh_terms: D002874:Chromosome Mapping; D002885:Chromosomes, Human, Pair 16; D005091:Exons; D005260:Female; D006801:Humans; D008297:Male; D010375:Pedigree; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011110:Polymorphism, Genetic; D011506:Proteins / Q000235:genetics*; D050396:TRPP Cation Channels
chemical_list: D011506:Proteins; D050396:TRPP Cation Channels