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Identification of New Polymorphisms in the CACNA1S Gene

  • Antonella Carsana , Giuliana Fortunato , Claudia De Sarno , Virginia Brancadoro and Francesco Salvatore
Published/Copyright: June 1, 2005
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Clinical Chemistry and Laboratory Medicine (CCLM)
From the journal Volume 41 Issue 1

Abstract

We identified four novel polymorphisms in the CACNA1S gene that encodes the α1-subunit of the dihydropyridine receptor. Mutations in this gene are associated with two genetic diseases: malignant hyperthermia and hypokalemic periodic paralysis. The nucleotide substitutions c2403T→C and c5398T→C did not result in amino acid replacement, the nucleotide substitution c4475C→A caused the replacement of the Ala1492 with an Asp residue and an A insertion was identified in intron 36. By using methods based on digestion with restriction enzymes we calculated the frequencies of these novel polymorphisms, as well as heterozygosity, in normal subjects from southern Italy.

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Published Online: 2005-06-01
Published in Print: 2003-01-27

Copyright © 2003 by Walter de Gruyter GmbH & Co. KG

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https://doi.org/10.1515/CCLM.2003.004

Articles in the same Issue

  1. Evidence-Based Laboratory Medicine: Addressing Bias, Generalisability and Applicability in Studies on Diagnostic Accuracy. The STARD Initiative
  2. Semen Polymorphonuclear Neutrophil Leukocyte Elastase as a Diagnostic and Prognostic Marker of Genital Tract Inflammation – A Review
  3. Total Oxyradical Scavenging Capacity toward Different Reactive Oxygen Species in Seminal Plasma and Sperm Cells
  4. Identification of New Polymorphisms in the CACNA1S Gene
  5. 3-Nitrotyrosine in Atherosclerotic Blood Vessels
  6. Molecular Diagnosis of Cystic Fibrosis: Comparison of Four Analytical Procedures
  7. Assessment of Intestinal Permeability: Enzymatic Determination of Urinary Mannitol, Raffinose, Sucrose and Lactose on Hitachi Analyzer
  8. Effects of Calcium Carbonate, Magnesium Oxide and Sodium Citrate Bicarbonate Health Supplements on the Urinary Risk Factors for Kidney Stone Formation
  9. Glycerol Metabolism and the Determination of Triglycerides –Clinical, Biochemical and Molecular Findings in Six Subjects
  10. Plasma Lipid Composition and LDL Oxidation
  11. Modified Method to Measure Nasal Potential Difference
  12. Towards Complete and Accurate Reporting of Studies of Diagnostic Accuracy: The STARD Initiative
  13. Novel and Traditional Biomarkers of Bone Turnover in Postmenopausal Women
  14. Urinary Plasma Protein Patterns in Acute Prostatitis
  15. Adequate Sampling in Cryoglobulinaemia: Recommended Warmly
  16. A New Modification of the Chiron ACS Assay for Total Prostate-Specific Antigen Achieves Equimolar Response Characteristics and Improves the Detection of Prostate Cancer
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  18. Measurements of Complement Factor H-Related Protein (BTA-TRAK™ Assay) and Nuclear Matrix Protein (NMP22 Assay) – Useful Diagnostic Tools in the Diagnosis of Urinary Bladder Cancer?
  19. Erratum: The 18th International Congress of Clinical Chemistry and Laboratory Medicine. Special Supplement Abstracts Issue 2002
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