Mutational analysis of OB gene in obese and type 2 diabetes affected subjects.

P. Arcuri, P. Di Spirito, A. Di Valerio, R. Palmirotta, B. Creati, S. Mammarella, D. L. Esposito, F. G. Caramia, R. Mariani-Costantini, A. Cama, P. Battista

Research output: Contribution to journalArticle

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.

Original languageEnglish
Pages (from-to)97-99
Number of pages3
JournalInternational Journal of Molecular Medicine
Volume6
Issue number1
Publication statusPublished - Jul 2000

ASJC Scopus subject areas

  • Genetics

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    Arcuri, P., Di Spirito, P., Di Valerio, A., Palmirotta, R., Creati, B., Mammarella, S., Esposito, D. L., Caramia, F. G., Mariani-Costantini, R., Cama, A., & Battista, P. (2000). Mutational analysis of OB gene in obese and type 2 diabetes affected subjects. International Journal of Molecular Medicine, 6(1), 97-99.