Elsevier

Genomics

Volume 39, Issue 1, 1 January 1997, Pages 113-116
Genomics

SHORT COMMUNICATION
The Human Inward Rectifying K+Channel Kir 2.2 (KCNJ12) Gene: Gene Structure, Assignment to Chromosome 17p11.1, and Identification of a Simple Tandem Repeat Polymorphism

https://doi.org/10.1006/geno.1996.4450Get rights and content

Abstract

K+channels are essential for a variety of cellular functions in both excitable and nonexcitable cells, and K+channel gene alteration has been recently described in cardiac and neurological disorders. To explore further the relations between hereditary human diseases and K+channels, we isolated from a human cosmid library the gene encoding the inwardly rectifying K+channel α-subunit Kir 2.2 (KCNJ12). PCR analysis performed on this clone indicates that the entire open reading frame is contained in one unique exon. A polymorphic (CA)16sequence was localized 2.2 kb upstream of the ATG start codon. Fluorescencein situhybridization on human metaphases assigns the gene to band 17p11.1. The implication of a deletion of the Kir 2.2 gene in the Smith–Magenis syndrome, which is also localized at 17p11, is unlikely since a Kir 2.2-linked microsatellite sequence could be amplified from the DNA of a Smith–Magenis syndrome affected patient bearing a 17p interstitial deletion.

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