A genetic study of platelet adenylate cyclase activity: evidence for a single major locus effect in fluoride-stimulated activity

Am J Hum Genet. 1991 Aug;49(2):372-7.


The activity of membrane-bound platelet adenylate cyclase, when stimulated in vitro by several compounds (including fluoride), is significantly reduced in alcoholics compared with control subjects. We have begun a study of the genetics of this enzyme activity. Complex segregation analysis of basal (unstimulated) platelet adenylate cyclase activity in families reveals a mode of inheritance that cannot be accounted for by a simple mixed model of transmission. By contrast, adenylate cyclase activity stimulated by fluoride ion reveals a single major locus effect with a modest multifactorial background. These results suggest that a single factor in the second-messenger pathway may (a) account for the majority of individual differences in stimulation of adenylate cyclase of fluoride and (b) help explain the reduced activities previously observed in alcoholics.

Publication types

  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adenylyl Cyclases / blood
  • Adenylyl Cyclases / genetics*
  • Alcoholism / blood
  • Alcoholism / enzymology
  • Alcoholism / genetics*
  • Blood Platelets / enzymology*
  • Female
  • Fluorides / pharmacology*
  • Humans
  • Male
  • Models, Genetic
  • Pedigree
  • Second Messenger Systems


  • Adenylyl Cyclases
  • Fluorides