Identification of a naturally occurring Pro15-Ser15 substitution in the serotonin5A receptor gene in alcoholics and healthy volunteers.
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.).
Laboratory of Neurogenetics, DICBR, National Institute on Alcohol Abuse and Alcoholism, Bethesda, MD 20892-8110, USA. nakao@box-n.nih.gov
N
N
Iwata
M
M
Virkkunen
M
M
Linnoila
D
D
Goldman
D000437:Alcoholism / Q000235:genetics*; D019943:Amino Acid Substitution; D017931:DNA Primers; D005091:Exons; D005787:Gene Frequency; D006801:Humans; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D012150:Polymorphism, Restriction Fragment Length; D011392:Proline; D011985:Receptors, Serotonin / Q000737:chemistry / Q000235:genetics*; D012016:Reference Values; D012694:Serine
D017931:DNA Primers; D011985:Receptors, Serotonin; C078730:serotonin 5 receptor; D012694:Serine; D011392:Proline