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Adult muscle sodium channel alpha-subunit is a gene candidate for malignant hyperthermia susceptibility.
Authors:A Olckers  D A Meyers  S Meyers  E W Taylor  J E Fletcher  H Rosenberg  H Isaacs  R C Levitt
Affiliation:Department of Anesthesiology, Johns Hopkins Medical Institutions, Baltimore, Maryland 21205.
Abstract:Human myosin light chain-2 (MYL2) is an important protein involved in the regulation of myosin ATPase activity in smooth muscle. In cardiac muscle, the precise role of MYL2 is not well understood; however, an increase in ventricular MYL2 is observed during myocardial hypertrophy in cardiac patients with valve stenosis. The chromosomal location of the gene coding for MYL2 was identified using a cloned cDNA for human MYL2. Southern blot analysis of DNA from a human/rodent somatic cell hybrid mapping panel showed that the BamHI fragment that hybridized with this cDNA probe was concordant with chromosome 12. The 768-bp cDNA was hybridized to human metaphase chromosomes. The results revealed a significant clustering of silver grains over chromosome 12 bands q23-q24.3, indicating that the gene coding for MYL2 is located in this region.
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