Calcium sensing receptor gene: analysis of polymorphism frequency

Scand J Clin Lab Invest Suppl. 1997:227:122-5.

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.

Publication types

  • Multicenter Study

MeSH terms

  • Adolescent
  • Adult
  • Alleles
  • Calcium / metabolism*
  • Cohort Studies
  • Female
  • Gene Frequency
  • Humans
  • Polymorphism, Genetic*
  • Receptors, Cell Surface / genetics*

Substances

  • Receptors, Cell Surface
  • Calcium