Chromosomal localization of 15 ion channel genes (original) (raw)

1996, Somatic Cell and Molecular Genetics

Several human Mendelian diseases, including the long-QT synd#vme, malignant hyperthermia, and episodic ataxia/myokymia syndrome, have recently been demonstrated to be due to mutations in ion channel genes. Systematic mapping of ion channel genes may therefore reveal candidates for other heritable disorders. In this study, the GenBank and dbEST databases were used to identi~; members of several ion chamwI families (voltage-gated calcium and sodium, cardiac chloride, arm all classes of potassium channels). Genes and ESTs" without prior map locaIirxttion were identified based on GDB and OWL databa,~e b~wmation and 15 genes and ESZs" were selected ,[Or mapping. Of" these 15, only the se#vtonin receptor 5HT3R had been previously mapped to a chromosome. A somatic cell hybrid panel (SCH) was screened with an STS from each gene and, !f neeessat3~ the results verified by a second SCH panel. For three ESTs, rodent derived PCR products c?f the same size as the human S'liS precluded SCH mapping. For these three, human PI clones were isolated and the genomic location was determined by memphase FISH. These genes and ESTs" can now be further evaluated as candidate genes for inheriwd ca~ffiac, neuromusculaz and psLvchiatric dis'orders mapped to these chromosomes. Furthermore, the ESTs developed in this study can he used to isolate genomic clones, enabling the de.termination of each transcript's genomie structure and physical map location. This appn>ach may also be applicable to othec gene fiunilies and may aM in the ident(fication of candidate genes ~br groups of related heritable disorders.