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.