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

• Published in: Molecular and cellular probes 1998-10, Vol.12 (5), p.331-333
• Main Authors: Mylona, P, Gokhale, D.A, Taylor, G.M, Sibley, C.P
• Format: Article
• Language: English
• Subjects: DNA - blood; DNA Primers; European Continental Ancestry Group - genetics; Fetal Blood; Heterozygote; Homozygote; Humans; Infant, Newborn; Kir2.1 gene, polymerase chain reaction, polymorphism, single strand conformation polymorphism; Point Mutation; Polymerase Chain Reaction - methods; Polymorphism, Single-Stranded Conformational; Potassium Channels - genetics; Potassium Channels, Inwardly Rectifying; United Kingdom
• ISSN: 0890-8508; 1096-1194
• DOI: 10.1006/mcpr.1998.0192

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%