Identification of two single nucleotide polymorphisms in exon 8 of PAX2.

Abstract

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.

• Authors: H H Shim, B N Nakamura, R M Cantor, L A Schimmenti
• Journal: Molecular genetics and metabolism (Mol Genet Metab) Vol. 68 Issue 4 Pg. 507-10 (Dec 1999) ISSN: 1096-7192 [Print] United States
• PMID: 10607481 (Publication Type: Journal Article, Research Support, Non-U.S. Gov't)
• Copyright: Copyright 1999 Academic Press.

Chemical References

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

Topics

• 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)