Identification of a naturally occurring Pro15-Ser15 substitution in the serotonin5A receptor gene in alcoholics and healthy volunteers

Brain Res Mol Brain Res. 1998 Jul 15;58(1-2):217-20. doi: 10.1016/s0169-328x(98)00111-9.

Abstract

We screened the serotonin5A receptor gene coding region in 186 unrelated alcoholic patients and 187 controls. A relatively abundant amino acid substitution and two synonymous DNA substitutions were detected. Two synonymous variants, A12T and C789T, had rarer-allele frequencies of 23% and 1%, respectively. The Pro15Ser substitution is located in the amino terminal, extracellular domain of the receptor adjacent to a putative phosphorylation site. Pro15Ser had rarer-allele frequencies of 8.1% and 5.9% in Finnish alcoholic patients and controls, respectively (p=n.s.).

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Alcoholism / genetics*
  • Amino Acid Substitution
  • DNA Primers
  • Exons
  • Gene Frequency
  • Humans
  • Point Mutation*
  • Polymerase Chain Reaction
  • Polymorphism, Restriction Fragment Length
  • Proline*
  • Receptors, Serotonin / chemistry
  • Receptors, Serotonin / genetics*
  • Reference Values
  • Serine*

Substances

  • DNA Primers
  • Receptors, Serotonin
  • serotonin 5 receptor
  • Serine
  • Proline