title: Mutation detection for exons 2 to 10 of the polycystic kidney disease 1 (PKD1)-gene by DGGE.
abstract: The PKD1-gene encodes a 14 kb transcript spanning a 50 kb genomic interval. Two-thirds of the gene is reiterated at another locus on the same chromosome. Using Long Range PCR with primers in intron 1 and exon 11, 6.8 kb PKD1 specific fragments were generated on genomic DNA. These products were used as templates for nested PCR's to screen exons 2-10 by Denaturing Gradient Gel Electrophoresis (DGGE). Upon analysis of 36 patients, a total of 11 different sequence variants were observed: A nonsense mutation in exon 2, a frameshift mutation in exon 8 and furthermore, two amino acid changes, two silent polymorphisms and five intronic variants.
authors.affiliation: Department of Human and Clinical Genetics, Leiden University Medical Center, Leiden, The Netherlands. d.j.m.peters@lumc.nl
authors.forename: D J
authors.initials: DJ
authors.lastname: Peters
authors.forename: Y
authors.initials: Y
authors.lastname: Ariyurek
authors.forename: M
authors.initials: M
authors.lastname: van Dijk
authors.forename: M H
authors.initials: MH
authors.lastname: Breuning
mesh_terms: D000328:Adult; D000368:Aged; D004586:Electrophoresis; D005091:Exons / Q000235:genetics; D006801:Humans; D008297:Male; D008875:Middle Aged; D009154:Mutation; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*; D011506:Proteins / Q000235:genetics*; D050396:TRPP Cation Channels
chemical_list: D011506:Proteins; D050396:TRPP Cation Channels