Mutation screening and identification of a sequence variation in the human ob gene coding region

Biochem Biophys Res Commun. 1996 Mar 27;220(3):735-9. doi: 10.1006/bbrc.1996.0473.


In the present study mRNA from the subcutaneous adipose tissue of 68 obese (defined as a body mass index > or = 27.3 for men and > or = 27.8 for women) and 38 lean subjects was screened for mutations in the ob gene coding region. No mutations in the coding region of the human ob gene were detected using Conformation Sensitive Gel Electrophoresis in 105 subjects. A first base substitution (G to A) was detected in one individual, which changed a valine to a methionine at position 94. The mRNA of all subjects contained the codon for glutamine-49, ruling out the possibility of a splice defect occurring during the removal of intron 2. These observations suggest that defects in the ob gene sequence itself are not the primary cause of obesity in humans.

Publication types

  • Comparative Study
  • Research Support, Non-U.S. Gov't
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Adipose Tissue / metabolism*
  • Alternative Splicing*
  • Base Sequence
  • DNA Primers
  • Electrophoresis, Polyacrylamide Gel / methods
  • Female
  • Genetic Variation*
  • Glutamine
  • Humans
  • Introns
  • Leptin
  • Male
  • Methionine
  • Molecular Sequence Data
  • Nucleic Acid Conformation
  • Obesity / genetics*
  • Obesity / metabolism
  • Point Mutation*
  • Polymerase Chain Reaction
  • Proteins / genetics*
  • RNA, Messenger / analysis
  • RNA, Messenger / biosynthesis
  • Reference Values
  • Restriction Mapping
  • Sex Characteristics


  • DNA Primers
  • Leptin
  • Proteins
  • RNA, Messenger
  • Glutamine
  • Methionine