title: Novel mutations in the promoter and coding region of the human 5-HT1A receptor gene and association analysis in schizophrenia.
abstract: Dysfunction of serotonin systems has been implicated in schizophrenia. In the present study, the human 5-HT1A receptor gene containing the 5' untranslated region was screened in order to detect genetic variations, through which alteration of protein function or level of expression might contribute to schizophrenia. Genomic DNAs were isolated from whole-blood samples of 61 unrelated schizophrenic patients and 100 healthy controls. Genetic variations were screened systematically by single-strand conformational polymorphism (SSCP) analysis, followed by direct sequencing of polymerase chain reaction (PCR) product as well as restriction fragment-length polymorphism (RFLP). The novel mutations (-51T --> C, -152C --> G, -321G --> C, -480delA, and -581C --> A) were found in the 5' untranslated region. Furthermore, we found a novel missense mutation (Gly272Asp) in the coding region in addition to the mutations (Pro16Leu, 294G --> A, and 549C --> T) reported previously. No significant differences in genotype frequencies as well as allele frequencies were found between patients and controls. Our data provided no evidence of association between schizophrenia and the variants in the 5' untranslated region as well as the coding region of the human 5-HT1A receptor gene.
authors.affiliation: Department of Psychiatry, Institute of Clinical Medicine, University of Tsukuba, Tsukuba City, Ibaraki, Japan. qb2y-kwns@asahi-net.or.jp
authors.forename: Y
authors.initials: Y
authors.lastname: Kawanishi
authors.forename: S
authors.initials: S
authors.lastname: Harada
authors.forename: H
authors.initials: H
authors.lastname: Tachikawa
authors.forename: T
authors.initials: T
authors.lastname: Okubo
authors.forename: H
authors.initials: H
authors.lastname: Shiraishi
mesh_terms: D005819:Genetic Markers; D020022:Genetic Predisposition to Disease; D015894:Genome, Human; D006801:Humans; D009154:Mutation; D011401:Promoter Regions, Genetic / Q000235:genetics*; D011985:Receptors, Serotonin / Q000235:genetics*; D012559:Schizophrenia / Q000235:genetics*
chemical_list: D005819:Genetic Markers; D011985:Receptors, Serotonin