查看文章

The function of brain serotonin-2C (5-HT_2C) receptors, including behavioral and neurochemical responses to 5-HT_2C agonist challenge, has been suggested to be abnormal in individuals with neuropsychiatric disorders. Thus, it is important to identify polymorphisms and functional variants within this gene. Using SSCP analysis, we identified a Cys₂₃-Ser₂₃ substitution (designated 5-HT_2Ccys and 5-HT_2Cser) in the first hydrophobic region of the human 5-HT_2C receptor. Allele frequencies in unrelated Caucasians were 0.13 and 0.87 for 5-HT_2Cser and 5-HT2_Ccys, respectively. DNAs from informative CEPH families were typed for this polymorphism and analyzed with respect to 20 linked markers on the X chromosome. Linkage analysis placed the 5-HT_2C receptor gene (HTR2C) on Xq24. To evaluate whether this amino acid substitution causes a variant function of this receptor, recombinant human 5-HT_2Ccys …