Identification of New Polymorphisms in the
CACNA1S Gene

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

doi:10.1515/CCLM.2003.004

Published by De Gruyter June 1, 2005

Identification of New Polymorphisms in the CACNA1S Gene

Antonella Carsana , Giuliana Fortunato , Claudia De Sarno , Virginia Brancadoro and Francesco Salvatore

From the journal Clinical Chemistry and Laboratory Medicine (CCLM)

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

Showing a limited preview of this publication:

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.

Published Online: 2005-06-01

Published in Print: 2003-01-27

Identification of New Polymorphisms in the CACNA1S Gene

Abstract

Journal and Issue

Articles in the same Issue