title: Mutational analysis of OB gene in obese and type 2 diabetes affected subjects.
abstract: Peripheral blood DNA from 12 subjects affected by familial obesity and from 35 subjects affected by type 2 diabetes were analysed for mutations in the coding sequence of the OB gene. Mutational analysis, conducted using the single strand conformation polymorphism (SSCP) technique, followed by direct sequencing did not reveal the presence of nucleotide variants in the coding region of the OB gene. The lack of mutations in the coding sequence is consistent with previous data suggesting that mutations in the coding sequence of the OB gene are not common in human familial obesity. In 2 samples displaying a non-informative pattern of SSCP and in 8 additional samples the nucleotide sequence of portion of the intron 2 bordering the coding sequence of exon 2 identified a G in the positions +14IVS and +18IVS, according to a sequence reported previously, but in contrast with some others. All samples were homozygous for these intron variants.
authors.affiliation: Department of Oncology and Neurosciences, Molecular Pathology Section, Faculty of Medicine, University <Gabriele D'Annunzio>, 1-66013 Chieti, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Arcuri
authors.forename: P
authors.initials: P
authors.lastname: Di Spirito
authors.forename: A
authors.initials: A
authors.lastname: Di Valerio
authors.forename: R
authors.initials: R
authors.lastname: Palmirotta
authors.forename: B
authors.initials: B
authors.lastname: Creati
authors.forename: S
authors.initials: S
authors.lastname: Mammarella
authors.forename: D L
authors.initials: DL
authors.lastname: Esposito
authors.forename: F G
authors.initials: FG
authors.lastname: Caramia
authors.forename: R
authors.initials: R
authors.lastname: Mariani-Costantini
authors.forename: A
authors.initials: A
authors.lastname: Cama
authors.forename: P
authors.initials: P
authors.lastname: Battista
mesh_terms: D000328:Adult; D000368:Aged; D004252:DNA Mutational Analysis; D003920:Diabetes Mellitus / Q000235:genetics; D003924:Diabetes Mellitus, Type 2 / Q000235:genetics*; D005260:Female; D006801:Humans; D007438:Introns; D020738:Leptin / Q000235:genetics*; D008297:Male; D008875:Middle Aged; D008969:Molecular Sequence Data; D009765:Obesity / Q000235:genetics*; D016133:Polymerase Chain Reaction; D018807:Polymorphism, Single-Stranded Conformational
chemical_list: D020738:Leptin