title: Calcium sensing receptor gene: analysis of polymorphism frequency.
abstract: 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.
authors.affiliation: Department of Medicine, University of Toronto, Canada.
authors.forename: L A
authors.initials: LA
authors.lastname: Rubin
authors.forename: V
authors.initials: V
authors.lastname: Peltekova
authors.forename: N
authors.initials: N
authors.lastname: Janicic
authors.forename: C C
authors.initials: CC
authors.lastname: Liew
authors.forename: D
authors.initials: D
authors.lastname: Hwang
authors.forename: J
authors.initials: J
authors.lastname: Evrovski
authors.forename: G N
authors.initials: GN
authors.lastname: Hendy
authors.forename: D E
authors.initials: DE
authors.lastname: Cole
mesh_terms: 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*
chemical_list: D011956:Receptors, Cell Surface; D002118:Calcium