title: 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.affiliation: Department of Human Genetics, UCLA School of Medicine, Los Angeles, California 90095, USA.
authors.forename: H H
authors.initials: HH
authors.lastname: Shim
authors.forename: B N
authors.initials: BN
authors.lastname: Nakamura
authors.forename: R M
authors.initials: RM
authors.lastname: Cantor
authors.forename: L A
authors.initials: LA
authors.lastname: Schimmenti
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics*; D000483:Alleles; D000818:Animals; D001483:Base Sequence; D002879:Chromosomes, Human, Pair 10; D003103:Coloboma / Q000235:genetics*; D004268:DNA-Binding Proteins / Q000235:genetics*; D005091:Exons; D005787:Gene Frequency; D006239:Haplotypes; D006801:Humans; D007231:Infant, Newborn; D007668:Kidney / Q000002:abnormalities*; D015810:Linkage Disequilibrium; D051379:Mice; D008969:Molecular Sequence Data; D051762:PAX2 Transcription Factor; D020641:Polymorphism, Single Nucleotide; D016415:Sequence Alignment; D013577:Syndrome; D014157:Transcription Factors / Q000235:genetics*
chemical_list: D004268:DNA-Binding Proteins; D051762:PAX2 Transcription Factor; C497318:PAX2 protein, human; C497319:Pax2 protein, mouse; D014157:Transcription Factors