title: Mapping of the human cone transducin alpha-subunit (GNAT2) gene to 1p13 and negative mutation analysis in patients with Stargardt disease.
abstract: We report localization of the human cone transducin (GNAT2) gene using fluorescence in situ hybridization on chromosome 1 in band p13. The recent assignment of a gene for Stargardt disease to the same chromosomal region by linkage analysis prompted us to investigate the possible role of GNAT2 in the pathogenesis of this disease. We investigated 66 unrelated patients for mutations in the coding region of the GNAT2 gene using polymerase chain reaction-single strand conformation polymorphism analysis (SSCP) and direct sequencing. No disease-specific mutations were found, indicating that GNAT2 is probably not involved in the pathogenesis of most cases of Stargardt disease.
authors.affiliation: Department of Genetics, Harvard Medical School, Brigham and Women's Hospital, Boston, Massachusetts, USA.
authors.forename: I
authors.initials: I
authors.lastname: Magovcevic
authors.forename: S
authors.initials: S
authors.lastname: Weremowicz
authors.forename: C C
authors.initials: CC
authors.lastname: Morton
authors.forename: S L
authors.initials: SL
authors.lastname: Fong
authors.forename: E L
authors.initials: EL
authors.lastname: Berson
authors.forename: T P
authors.initials: TP
authors.lastname: Dryja
mesh_terms: D001483:Base Sequence; D002871:Chromosome Banding; D002874:Chromosome Mapping; D002878:Chromosomes, Human, Pair 1; D004252:DNA Mutational Analysis; D017931:DNA Primers; D005091:Exons; D008040:Genetic Linkage; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D046911:Macromolecular Substances; D008268:Macular Degeneration / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction; D017949:Retinal Cone Photoreceptor Cells / Q000378:metabolism*; D015293:Transducin / Q000235:genetics*
chemical_list: D017931:DNA Primers; D046911:Macromolecular Substances; D015293:Transducin