ABSENCE OF MUTATIONS IN THE HUMAN OB GENE IN OBESE-DIABETIC SUBJECTS

Citation
M. Maffei et al., ABSENCE OF MUTATIONS IN THE HUMAN OB GENE IN OBESE-DIABETIC SUBJECTS, Diabetes, 45(5), 1996, pp. 679-682
Citations number
14
Categorie Soggetti
Endocrynology & Metabolism","Medicine, General & Internal
Journal title
ISSN journal
00121797
Volume
45
Issue
5
Year of publication
1996
Pages
679 - 682
Database
ISI
SICI code
0012-1797(1996)45:5<679:AOMITH>2.0.ZU;2-X
Abstract
The product of the obese (ob) gene, leptin, is a secreted protein that is important in the regulation of body weight. Mice with mutations in the ob gene are obese and diabetic and manifest reduced physical as w ell as metabolic activity. In this study, we tested the possibility th at mutations tin the OB gene may contribute to human obesity, We repor t the isolation and partial sequence of the human OB gene and the scre ening of 105 obese patients for mutations in the protein coding sequen ce using the technique of single-strand conformational polymorphism. N o coding sequence polymorphism was found, suggesting that mutations in the coding sequence of the OB gene do not constitute a common cause o f increased body weight in humans, We also identified a highly polymor phic simple dinucleotide repeat DNA polymorphism in this gene that wil l be useful for genetic studies.