Antonella Carsana, Giuliana Fortunato, Claudia De Sarno, Virginia Brancadoro, Francesco Salvatore
Identification of New Polymorphisms in the
CACNA1S Gene
We identified four novel polymorphisms in the
CACNA1S gene that encodes the ?1-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.
Clinical Chemical Laboratory Medicine, Walter de Gruyter
Print ISSN: 1434-6621
Volume: 41, 01/2003
Pages: 20 - 22
Show full article (external site)
Show all available items of this journal
Search
