Mutation screening of human 5-HT2B receptor gene in early-onset obsessive-compulsive disorder

The serotonin receptor 2B gene (HTR2B; MIM 601122) is a pharmacological and positional candidate gene in early-onset obsessive-compulsive disorder. Se quences of a putative promoter region and splice regions were first elucida ted, then sequenced along with HTR2B coding regions. Probands from seven fa milies included in a previous genome scan in which one of the strongest lin kage findings was to a region including HTR2B, along with two genomic DNA p ools of 10 unrelated control subjects and 10 unrelated autism probands were screened. One single nucleotide polymorphism was found in intron 1, that m ay be useful as a marker in genetic linkage and association studies. It doe s not appear likely to affect splicing. No evidence for functional mutation was found in the sequenced regions of HTR2B. (C) 2000 Academic Press.