Channelpedia

PubMed 7774931


Referenced in: none

Automatically associated channels: Kv2.1 , Kv7.2



Title: Physical and genetic localization of a Shab subfamily potassium channel (KCNB1) gene to chromosomal region 20q13.2.

Authors: R Melis, D Stauffer, X Zhao, X L Zhu, B Albrecht, O Pongs, A Brothman, M Leppert

Journal, date & volume: Genomics, 1995 Jan 1 , 25, 285-7

PubMed link: http://www.ncbi.nlm.nih.gov/pubmed/7774931


Abstract
A human delayed rectifier K+ channel gene has been localized to the long arm of human chromosome 20q13.2 by fluorescence in situ hybridization of genomic P1 clones from this locus. A polymorphic (GA) microsatellite repeat was identified in one of the P1 clones. The new SSR marker (D20S436) was genotyped in four CEPH pedigrees. Two-point linkage analysis indicated linkage of this marker to a PCR marker, D20S109, with a maximum lod score of 9.32 at theta = 0.001. The assignment of this K+ channel gene to 20q13.2 eliminates it as a candidate for the gene associated with benign familial neonatal convulsions (BFNC), which has been localized to 20q13.3. Genetically, the K+ channel gene maps more than 30 cM proximal to the BFNC locus.