Physical and genetic localization of a Shab subfamily potassium channel (KCNB1) gene to chromosomal region 20q13.2.
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.
Melis
R
R
Eccles Institute for Human Genetics, University of Utah, Salt Lake City 84112, USA.
Stauffer
D
D
Zhao
X
X
Zhu
X L
XL
Albrecht
B
B
Pongs
O
O
Brothman
A
A
Leppert
M
M
D001483:Base Sequence; D002874:Chromosome Mapping; D002890:Chromosomes, Human, Pair 20; D003001:Cloning, Molecular; D017931:DNA Primers; D005819:Genetic Markers; D015698:Genomic Library; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008214:Lymphocytes / Q000166:cytology / Q000378:metabolism; D008297:Male; D008969:Molecular Sequence Data; D005810:Multigene Family; D016133:Polymerase Chain Reaction; D015221:Potassium Channels / Q000235:genetics*; D051669:Shab Potassium Channels
D017931:DNA Primers; D005819:Genetic Markers; C496988:KCNB1 protein, human; D015221:Potassium Channels; D051669:Shab Potassium Channels