MUTATION SCREENING AND IDENTIFICATION OF A SEQUENCE VARIATION IN THE HUMAN OB GENE CODING REGION

In the present study mRNA from the subcutaneous adipose tissue of 68 o bese (defined as a body mass index greater than or equal to 27.3 for m en and greater than or equal to 27.8 for women) and 38 lean subjects w as screened for mutations in the ob gene coding region. No mutations i n the coding region of the human oh gene were detected using Conformat ion Sensitive Gel Electrophoresis in 105 subjects. A first base substi tution (G to A) was detected in one individual, which changed a valine to a methionine at position 94. The mRNA of all subjects contained th e codon for glutamine-49, ruling out the possibility of a splice defec t occurring during the removal of intron 2. These observations suggest that defects in the oh gene sequence itself are not the primary cause of obesity in humans. (C) 1996 Academic Press, Inc.