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Clinical Chemistry and Laboratory Medicine (CCLM)

Published in Association with the European Federation of Clinical Chemistry and Laboratory Medicine (EFLM)

Editor-in-Chief: Plebani, Mario

Ed. by Gillery, Philippe / Lackner, Karl J. / Lippi, Giuseppe / Melichar, Bohuslav / Payne, Deborah A. / Schlattmann, Peter / Tate, Jillian R.

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Identification of New Polymorphisms in the CACNA1S Gene

Antonella Carsana / Giuliana Fortunato / Claudia De Sarno / Virginia Brancadoro / Francesco Salvatore

Citation Information: Clinical Chemistry and Laboratory Medicine. Volume 41, Issue 1, Pages 20–22, ISSN (Print) 1434-6621, DOI: 10.1515/CCLM.2003.004, June 2005

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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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