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

• Published in: Psychiatric genetics Vol. 8; no. 4; p. 235
• Main Authors: Berrettini, W H, Vuoristo, J, Ferraro, T N, Buono, R J, Wildenauer, D, Ala-Kokko, L
• Format: Journal Article
• Language: English
• Published: England 1998
• Subjects: Alleles; Bipolar Disorder - epidemiology; Bipolar Disorder - genetics; Chromosomes, Human, Pair 18 - genetics; Genetic Predisposition to Disease; Germany - epidemiology; GTP-Binding Protein alpha Subunits; GTP-Binding Proteins - genetics; Heterotrimeric GTP-Binding Proteins; Humans; Introns - genetics; Nerve Tissue Proteins - genetics; Point Mutation; Polymorphism, Single-Stranded Conformational; Reverse Transcriptase Polymerase Chain Reaction; RNA Splicing; Schizophrenia - epidemiology; Schizophrenia - genetics; Germany
• ISSN: 0955-8829
• DOI: 10.1097/00041444-199808040-00006

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.