The SCN5A gene, responsible for the principal cardiac sodium channel, is located on chromosome 3p21, providing foundational genetic mapping for future arrhythmia research.
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Offers a chromosomal target for arrhythmia genetics research; leaves open translation to human clinical practice.
The chromosomal location of SCN5A, the gene encoding the principal voltage-gated Na+ channel expressed in human heart, has been determined by three independent methodologies: somatic cell hybrid mapping, chromosomal microdissection-polymerase chain reaction, and fluorescence in situ hybridization. The SCN5A gene was assigned to the short arm of chromosome 3 (band 3p21) by all three approaches. These data are further evidence that striated muscle Na+ channel genes are dispersed in the genome.
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George et al. (2008) studied this question.
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