Human G(olf) gene polymorphisms and vulnerability to bipolar disorder

Psychiatr Genet. 1998 Winter;8(4):235-8. doi: 10.1097/00041444-199808040-00006.

Abstract

Two intronic polymorphisms of the human alpha subunit of the olfactory G-protein (G(olf)) are described. They were detected with single-stranded conformational polymorphism (SSCP) methods and confirmed by sequencing both strands. These single base pair (bp) substitutions occur in introns 3 (an A/G at 35 bp 3' from the exon 3/intron 3 5' splice site) and 10 (an T/G at 7 bp 5' from the 3' splice site). Both polymorphisms are relatively common, with minor allele frequencies of 31% (intron 3) and 16% (intron 10). The intron 3 variant shows no linkage disequilibrium with an intron 5 (CA)n microsatellite located approximately 50 kb 3' from the intron 3 variant, among a small group of German individuals with schizophrenia. The intron 3 variant is interesting because it may create an 'in-frame' cryptic splice site which, if activated, would add 12 residues to exon 3. The intron 10 variant is interesting because a purine is substituted for a pyrimidine in the 'polypyrimidine' tract of the 3' splice site, a single base substitution of the type which has been associated with aberrant splicing in the androgen receptor gene.

MeSH terms

  • Alleles
  • Bipolar Disorder / epidemiology
  • Bipolar Disorder / genetics*
  • Chromosomes, Human, Pair 18 / genetics*
  • GTP-Binding Protein alpha Subunits
  • GTP-Binding Proteins / genetics*
  • Genetic Predisposition to Disease
  • Germany / epidemiology
  • Heterotrimeric GTP-Binding Proteins*
  • Humans
  • Introns / genetics
  • Nerve Tissue Proteins / genetics*
  • Point Mutation*
  • Polymorphism, Single-Stranded Conformational*
  • RNA Splicing
  • Reverse Transcriptase Polymerase Chain Reaction
  • Schizophrenia / epidemiology
  • Schizophrenia / genetics

Substances

  • GTP-Binding Protein alpha Subunits
  • Nerve Tissue Proteins
  • olfactory G protein subunit alpha olf
  • GTP-Binding Proteins
  • Heterotrimeric GTP-Binding Proteins