title: Mutation screening of human 5-HT(2B)receptor gene in early-onset obsessive-compulsive disorder.
abstract: The serotonin receptor 2B gene (HTR2B; MIM 601122) is a pharmacological and positional candidate gene in early-onset obsessive-compulsive disorder. Sequences of a putative promoter region and splice regions were first elucidated, then sequenced along with HTR2B coding regions. Probands from seven families included in a previous genome scan in which one of the strongest linkage findings was to a region including HTR2B, along with two genomic DNA pools of 10 unrelated control subjects and 10 unrelated autism probands were screened. One single nucleotide polymorphism was found in intron 1, that may be useful as a marker in genetic linkage and association studies. It does not appear likely to affect splicing. No evidence for functional mutation was found in the sequenced regions of HTR2B.
authors.affiliation: Laboratory of Developmental Neuroscience, Child and Adolescent Psychiatry, Department of Psychiatry MC3077, 5841 S Maryland Avenue, Chicago, IL 60637, USA.
authors.forename: S J
authors.initials: SJ
authors.lastname: Kim
authors.forename: J
authors.initials: J
authors.lastname: Veenstra-VanderWeele
authors.forename: G L
authors.initials: GL
authors.lastname: Hanna
authors.forename: D
authors.initials: D
authors.lastname: Gonen
authors.forename: B L
authors.initials: BL
authors.lastname: Leventhal
authors.forename: E H
authors.initials: EH
authors.lastname: Cook
mesh_terms: D020121:5' Untranslated Regions; D000293:Adolescent; D017668:Age of Onset; D017398:Alternative Splicing; D019943:Amino Acid Substitution; D001483:Base Sequence; D015415:Biomarkers; D002648:Child; D002889:Chromosomes, Human, Pair 2; D004252:DNA Mutational Analysis; D005091:Exons; D005192:Family Health; D005787:Gene Frequency; D005820:Genetic Testing; D015894:Genome, Human; D006801:Humans; D007438:Introns; D008969:Molecular Sequence Data; D009771:Obsessive-Compulsive Disorder / Q000235:genetics*; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods; D011110:Polymorphism, Genetic; D011401:Promoter Regions, Genetic; D044403:Receptor, Serotonin, 5-HT2B; D011985:Receptors, Serotonin / Q000235:genetics*; D017422:Sequence Analysis, DNA
chemical_list: D020121:5' Untranslated Regions; D015415:Biomarkers; D044403:Receptor, Serotonin, 5-HT2B; D011985:Receptors, Serotonin