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  • Title: Mutation detection for exons 2 to 10 of the polycystic kidney disease 1 (PKD1)-gene by DGGE.
    Author: Peters DJ, Ariyurek Y, van Dijk M, Breuning MH.
    Journal: Eur J Hum Genet; 2001 Dec; 9(12):957-60. PubMed ID: 11840199.
    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.
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