Identification of two single nucleotide polymorphisms in exon 8 of PAX2

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

doi:10.1006/mgme.1999.2931

Identification of two single nucleotide polymorphisms in exon 8 of PAX2

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

Pediatrics - Genetics and Metabolism

Research output: Contribution to journal › Article › peer-review

8 Scopus citations

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.

Original language	English (US)
Pages (from-to)	507-510
Number of pages	4
Journal	Molecular Genetics and Metabolism
Volume	68
Issue number	4
DOIs	https://doi.org/10.1006/mgme.1999.2931
State	Published - 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.

Keywords

Chromosome 10
Mapping
PAX2
Polymorphism
Renal-coloboma syndrome
cSNP

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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.",

keywords = "Chromosome 10, Mapping, PAX2, Polymorphism, Renal-coloboma syndrome, cSNP",

author = "Shim, {Heather H.} and Nakamura, {Brooke N.} and Cantor, {Rita M.} and Schimmenti, {Lisa A.}",

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.",

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AU - Shim, Heather H.

AU - Nakamura, Brooke N.

AU - Cantor, Rita M.

AU - Schimmenti, Lisa A.

N1 - 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.

PY - 1999/12

Y1 - 1999/12

N2 - 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.

AB - 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.

KW - Chromosome 10

KW - Mapping

KW - PAX2

KW - Polymorphism

KW - Renal-coloboma syndrome

KW - cSNP

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JO - Molecular Genetics and Metabolism

JF - Molecular Genetics and Metabolism

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ER -

Identification of two single nucleotide polymorphisms in exon 8 of PAX2

Abstract

Bibliographical note

Keywords

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