Identification of Two Single Nucleotide Polymorphisms in Exon 8 of PAX2 |
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Authors: | Heather H. Shim Brooke N. Nakamura Rita M. Cantor Lisa A. Schimmenti |
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Affiliation: | a Department of Human Genetics, UCLA School of Medicine, Los Angeles, California, 90095;b Department of Pediatrics, UCLA School of Medicine, Los Angeles, California, 90095 |
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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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Keywords: | PAX2 renal-coloboma syndrome cSNP polymorphism mapping chromosome 10 |
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