Identification of two single nucleotide polymorphisms in exon 8 of PAX2

Mol Genet Metab. 1999 Dec;68(4):507-10. doi: 10.1006/mgme.1999.2931.


We estimate the allele frequencies of two single nucleotide polymorphisms (1410 C --> T) and (1521 A --> C) in the coding region of PAX2. The coding region single nucleotide polymorphisms (cSNPs) were identified by sequencing of amplimers of PAX2 exon 8 exhibiting variant migration patterns in the course of genomic DNA mutation screening from patients with renal-coloboma syndrome. Allele frequencies of the two polymorphisms were 0.94 for 1410C and 0.72 for 1521A. Cosegregation analyses of both alleles suggest that they are each in Hardy-Weinberg equilibrium and jointly in linkage equilibrium and may represent ancient polymorphisms. Characterization of PAX2 exon 8 cSNPs will serve as useful tools for mapping at the PAX2 locus.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Alleles
  • Animals
  • Base Sequence
  • Chromosomes, Human, Pair 10
  • Coloboma / genetics*
  • DNA-Binding Proteins / genetics*
  • Exons
  • Gene Frequency
  • Haplotypes
  • Humans
  • Infant, Newborn
  • Kidney / abnormalities*
  • Linkage Disequilibrium
  • Mice
  • Molecular Sequence Data
  • PAX2 Transcription Factor
  • Polymorphism, Single Nucleotide
  • Sequence Alignment
  • Syndrome
  • Transcription Factors / genetics*


  • DNA-Binding Proteins
  • PAX2 Transcription Factor
  • PAX2 protein, human
  • Pax2 protein, mouse
  • Transcription Factors