title: Amplification of a 13.5-kb region of the PKD1 gene containing the 2.5-kb polypyrimidine tract in intron 21 facilitates mutation detection in this gene.
abstract: Mutation detection in the PKD1 gene proved to be difficult because two-thirds of the gene is reiterated several times on chromosome 16. Long-range PCR has been used previously to overcome this limitation, but due to a 2.5-kb polypyrimidine tract in intron 21, the screening capacity of the PKD1 gene using this technique was hindered. Here we report the measures that we have used to overcome this limitation.
authors.affiliation: Department of Medical Genetics, St. George's Hospital Medical School, London UK.
authors.forename: A R
authors.initials: AR
authors.lastname: Afzal
authors.forename: S
authors.initials: S
authors.lastname: Jeffery
mesh_terms: D004252:DNA Mutational Analysis / Q000379:methods*; D017931:DNA Primers / Q000235:genetics; D005091:Exons / Q000235:genetics; D006801:Humans; D007438:Introns / Q000235:genetics*; D016891:Polycystic Kidney, Autosomal Dominant / Q000235:genetics*; D016133:Polymerase Chain Reaction; D011506:Proteins / Q000235:genetics*; D012091:Repetitive Sequences, Nucleic Acid / Q000235:genetics*; D050396:TRPP Cation Channels
chemical_list: D017931:DNA Primers; D011506:Proteins; D050396:TRPP Cation Channels