title: Novel mutations of the PKD1 gene in Korean patients with autosomal dominant polycystic kidney disease.
abstract: The gene for the most common form of autosomal dominant polycystic kidney disease (ADPKD), PKD1, has recently been characterized and shown to encode an integral membrane protein, polycystin-1, which is involved in cell-cell and cell-matrix interactions. Until now, approximately 30 mutations of the 3' single copy region of the PKD1 gene have been reported in European and American populations. However, there is no report of mutations in Asian populations. Using the polymerase chain reaction and single-strand conformation polymorphism (SSCP) analysis, 91 Korean patients with ADPKD were screened for mutation in the 3' single copy region of the PKD1 gene. As a result, we have identified and characterized six mutations: three frameshift mutations (11548del8bp, 11674insG and 12722delT), a nonsense mutation (Q4010X), and two missense mutations (R3752W and D3814N). Five mutations except for Q4010X are reported here for the first time. Our findings also indicate that many different mutations are likely to be responsible for ADPKD in the Korean population. The detection of additional disease-causing PKD1 mutations will help in identifying the location of the important functional regions of polycystin-1 and help us to better understand the pathophysiology of ADPKD.
authors.affiliation: Department of Molecular Biology, Seoul National University, South Korea.
authors.forename: U K
authors.initials: UK
authors.lastname: Kim
authors.forename: D K
authors.initials: DK
authors.lastname: Jin
authors.forename: C
authors.initials: C
authors.lastname: Ahn
authors.forename: J H
authors.initials: JH
authors.lastname: Shin
authors.forename: K B
authors.initials: KB
authors.lastname: Lee
authors.forename: S H
authors.initials: SH
authors.lastname: Kim
authors.forename: J J
authors.initials: JJ
authors.lastname: Chae
authors.forename: D Y
authors.initials: DY
authors.lastname: Hwang
authors.forename: J G
authors.initials: JG
authors.lastname: Lee
authors.forename: Y
authors.initials: Y
authors.lastname: Namkoong
authors.forename: C C
authors.initials: CC
authors.lastname: Lee
mesh_terms: D016368:Frameshift Mutation; D005820:Genetic Testing; D006801:Humans; D007723:Korea; D009154:Mutation / Q000235:genetics*; D020125:Mutation, Missense; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational; D011506:Proteins / Q000235:genetics*; D050396:TRPP Cation Channels
chemical_list: D011506:Proteins; D050396:TRPP Cation Channels