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

Identification of two single nucleotide polymorphisms in exon 8 of PAX2

H H Shim  1 , B N Nakamura, R M Cantor, L A Schimmenti
Affiliations

Identification of two single nucleotide polymorphisms in exon 8 of PAX2

H H Shim et al. Mol Genet Metab. 1999 Dec.

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.

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