Calcium sensing receptor gene: analysis of polymorphism frequency.
The role that the Calcium Sensing Receptor (CASR) plays in extracellular calcium regulation had been ascertained through studies of inactivating as well as activating mutations of CASR gene in a number of multiplex families. We have extended these observations to a polymorphism analysis of the intercellular domain of CASR in a cohort of healthy young women. The results demonstrate significant allelic polymorphism as a result of nonconservative changes at two specific sites. Further studies will be required to determine what, if any, relationship this may have to CASR phenotype.
Rubin
L A
LA
Department of Medicine, University of Toronto, Canada.
Peltekova
V
V
Janicic
N
N
Liew
C C
CC
Hwang
D
D
Evrovski
J
J
Hendy
G N
GN
Cole
D E
DE
D000293:Adolescent; D000328:Adult; D000483:Alleles; D002118:Calcium / Q000378:metabolism*; D015331:Cohort Studies; D005260:Female; D005787:Gene Frequency; D006801:Humans; D011110:Polymorphism, Genetic; D011956:Receptors, Cell Surface / Q000235:genetics*
D011956:Receptors, Cell Surface; D002118:Calcium