Single nucleotide polymorphism discovery and haplotype analysis of Ca2+-dependent K+ channel beta-1 subunit.

Single nucleotide polymorphism discovery and haplotype analysis of Ca2+-dependent K+ channel beta-1 subunit. Research Abstract Details 

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Single nucleotide polymorphism discovery and haplotype analysis of Ca2+-dependent K+ channel beta-1 subunit. Abstract Text:

Yan Gong,Amber L Beitelshees,Jennifer Wessel,Taimour Y Langaee,Nicholas J Schork,Julie A Johnson,

The large-conductance, Ca-dependent K channel plays a key role in the control of vascular tone. Variation in the gene encoding the beta-1 subunit of the Ca-dependent K channel (KCNMB1) has been reported to be associated with hypertension, however, variants in KCNMB1 have not been systematically characterized to date. In this study, we have performed the most comprehensive evaluation to date of single nucleotide polymorphisms in KCNMB1 using genomic DNA from 60 individuals of European, African and native American ancestry. We identified and characterized single nucleotide polymorphisms in the exons, intron/exon junctions, upstream region and 3' untranslated regions of KCNMB1 using denaturing high-performance liquid chromatography combined with direct DNA sequencing. A total of 25 single nucleotide polymorphisms in KCNMB1 were identified. Seven of the polymorphisms (28%) are novel single nucleotide polymorphisms not reported previously. Allele frequencies range from less than 1.7 to 50% and 19 single nucleotide polymorphisms had a minor allele frequency greater than 5%. A lack of strong linkage disequilibrium among the 25 single nucleotide polymorphisms was observed in all three race/ethnicity groups; therefore the identification of haplotype 'tag' single nucleotide polymorphisms for genetic association studies is not likely to be appropriate for KCNMB1. Multiple species comparative analysis and in-silico functional analysis were performed to identify potential functionally important single nucleotide polymorphisms within the gene. These data highlight that a tag single nucleotide polymorphism approach will not be appropriate for the study of genes such as KCNMB1, although potentially important functionally significant single nucleotide polymorphisms are suggested for future studies investigating the influence of this gene's variability on disease and drug response.

Single nucleotide polymorphism discovery and haplotype analysis of Ca2+-dependent K+ channel beta-1 subunit. Publishing Authors By Initials

Y Gong,AL Beitelshees,J Wessel,TY Langaee,NJ Schork,JA Johnson,

For similar genetic phenomena: variation (genetics): polymorphism, genetic: polymorphism, single nucleotide research abstracts see: genetic phenomena: variation (genetics): polymorphism, genetic: polymorphism, single nucleotide research

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Single nucleotide polymorphism discovery and haplotype analysis of Ca2+-dependent K+ channel beta-1 subunit. Journal Published:

PUBLICATION TYPE: Research Support, N.I.H., Extr

Journal: Pharmacogenetics and genomics

VOLUME: 17

Page Numbers: 267-75

Journal Abbreviation: Pharmacogenet. Genomics

ISSN: 1744-6872

DAY: 3

MONTH: Apr

YEAR: 2007

Single nucleotide polymorphism discovery and haplotype analysis of Ca2+-dependent K+ channel beta-1 subunit. Information

Number of References:

LANGUAGE: eng

NlmUniqueID: 101231005

Single nucleotide polymorphism discovery and haplotype analysis of Ca2+-dependent K+ channel beta-1 subunit. Keywords Mesh Terms:

KEYWORDS: Polymorphism, Single Nucleotide

MESH TERMS: genetics

Chemical & Substance for Abstract: Single nucleotide polymorphism discovery and haplotype analysis of Ca2+-dependent K+ channel beta-1 subunit. Information

Substance Name: Large-Conductance Calcium-Activated Pota

Registry Number: 0

Grant and Affiliation Information for Single nucleotide polymorphism discovery and haplotype analysis of Ca2+-dependent K+ channel beta-1 subunit.

AFFILIATION: Center for Pharmacogenomics, College of Pharmacy, University of Florida, Gainesville, FL 32610, USA.

Country: United States

AGENCY: United States NHLBI

GRANT: HL74730

ACRONYM: HL

MEDLINETA: Pharmacogenet Genomics

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