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Molecular and Cellular Probes
Article . 1998 . Peer-reviewed
License: Elsevier TDM
Data sources: Crossref
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Detection of a high-frequency silent polymorphism (C→T) in the Kir2.1 (KCNJ2) inwardly rectifying potassium channel gene by polymerase chain reaction and single strand conformation polymorphism

Authors: P, Mylona; D A, Gokhale; G M, Taylor; C P, Sibley;

Detection of a high-frequency silent polymorphism (C→T) in the Kir2.1 (KCNJ2) inwardly rectifying potassium channel gene by polymerase chain reaction and single strand conformation polymorphism

Abstract

The aim of this work was to determine the frequency of a base substitution (C-->T) identified in the Kir2.1 gene (approved gene symbol: KCNJ2; OMIM number: 600681). Polymerase chain reaction (PCR) of the area of the Kir2.1 gene containing this substitution was performed on 52 genomic DNA samples. Using single strand conformation polymorphism (SSCP) analysis, the genotype and allele frequencies were subsequently determined and the polymorphism identified in this study was verified by cycle sequencing. The data demonstrate that the C-->T nucleotide change identified corresponds to a silent polymorphism with a relatively high frequency. The deduced genotype frequencies of homozygotes and heterozygotes were: C/C: 73%; T/T: 2% and C/T: 25%. The deduced allele frequencies were C: 85.6% and T: 14.4%.

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Keywords

Heterozygote, Potassium Channels, Homozygote, Infant, Newborn, DNA, Fetal Blood, Polymerase Chain Reaction, United Kingdom, White People, Humans, Point Mutation, Potassium Channels, Inwardly Rectifying, Polymorphism, Single-Stranded Conformational, DNA Primers

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selected citations
These citations are derived from selected sources.
This is an alternative to the "Influence" indicator, which also reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Citations provided by BIP!
popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
BIP!Popularity provided by BIP!
influence
This indicator reflects the overall/total impact of an article in the research community at large, based on the underlying citation network (diachronically).
BIP!Influence provided by BIP!
impulse
This indicator reflects the initial momentum of an article directly after its publication, based on the underlying citation network.
BIP!Impulse provided by BIP!
2
Average
Average
Average
gold