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Table 4 PKD1 polymorphisms detected in Thai population

From: Novel and de novo PKD1 mutations identified by multiple restriction fragment-single strand conformation polymorphism (MRF-SSCP)

Polymorphism Location Nucleotide change Amino acid change Frequency (%) Detection method Presence in HGsa
c.10078C>T Exon 29 g.41677C>T C3289C 16.4 (18/110) BsmA I (+) Yes
c.10120C>T Exon 29 g.41719C>T G3303G 4.5 (5/110) Hph I (+) Yes
c.10158G>A Exon 30 g.41847G>A S3316N 15.5 (17/110) Bsp1286 I (-) Yes
c.10318C>T Exon 31 g.43666C>T S3369S 0.9 (1/114) Pvu II (-) No
IVS41+20C>T IVS41 g.49833C>T - 1.0 (4/400) ASAb No
  1. aAnalyzed from multiple alignment of PKD1-genomic DNA with 6 homologous genes or pseudogenes [17, 34]. bAllele specific amplification.