Identification of two single nucleotide polymorphisms in exon 8 of PAX2

Heather H. Shim, Brooke N. Nakamura, Rita M. Cantor, Lisa A. Schimmenti

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8 Scopus citations


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.

Original languageEnglish (US)
Pages (from-to)507-510
Number of pages4
JournalMolecular Genetics and Metabolism
Issue number4
StatePublished - Dec 1999

Bibliographical note

Funding Information:
We thank N. Carolyn Schanen and an anonymous reviewer for thoughtful advice. This work was supported through an award from the Stein-Oppenheimer Foundation and the UCLA Academic Senate to L.A.S. B. N. Nakamura received support of the Marymount High School Reach-Out Program. Our laboratory is grateful for the generosity of Leslie and Susan Gonda.


  • Chromosome 10
  • Mapping
  • PAX2
  • Polymorphism
  • Renal-coloboma syndrome
  • cSNP


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