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rdf:type |
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lifeskim:mentions |
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pubmed:issue |
1
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pubmed:dateCreated |
1995-7-7
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pubmed:databankReference |
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pubmed:abstractText |
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.
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pubmed:language |
eng
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pubmed:journal |
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pubmed:citationSubset |
IM
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pubmed:chemical |
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pubmed:status |
MEDLINE
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pubmed:month |
Jan
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pubmed:issn |
0888-7543
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pubmed:author |
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pubmed:issnType |
Print
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pubmed:day |
1
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pubmed:volume |
25
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pubmed:geneSymbol |
KCNB1
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pubmed:owner |
NLM
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pubmed:authorsComplete |
Y
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pubmed:pagination |
285-7
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pubmed:dateRevised |
2006-11-15
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pubmed:meshHeading |
pubmed-meshheading:7774931-Base Sequence,
pubmed-meshheading:7774931-Chromosome Mapping,
pubmed-meshheading:7774931-Chromosomes, Human, Pair 20,
pubmed-meshheading:7774931-Cloning, Molecular,
pubmed-meshheading:7774931-DNA Primers,
pubmed-meshheading:7774931-Genetic Markers,
pubmed-meshheading:7774931-Genomic Library,
pubmed-meshheading:7774931-Humans,
pubmed-meshheading:7774931-In Situ Hybridization, Fluorescence,
pubmed-meshheading:7774931-Lymphocytes,
pubmed-meshheading:7774931-Male,
pubmed-meshheading:7774931-Molecular Sequence Data,
pubmed-meshheading:7774931-Multigene Family,
pubmed-meshheading:7774931-Polymerase Chain Reaction,
pubmed-meshheading:7774931-Potassium Channels,
pubmed-meshheading:7774931-Shab Potassium Channels
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pubmed:year |
1995
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pubmed:articleTitle |
Physical and genetic localization of a Shab subfamily potassium channel (KCNB1) gene to chromosomal region 20q13.2.
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pubmed:affiliation |
Eccles Institute for Human Genetics, University of Utah, Salt Lake City 84112, USA.
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pubmed:publicationType |
Journal Article,
Research Support, Non-U.S. Gov't
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