An Mse I RFLP in the Human CTLA4 Promotor

Biochem Biophys Res Commun. 1996 Aug 23;225(3):817-8. doi: 10.1006/bbrc.1996.1256.


We present a PCR-based Mse I restriction fragment length polymorphism (RFLP) in the promotor of the human CTLA4 gene at position -318 relative to the ATG start codon. In a random caucasian population including 239 individuals the allele frequency of the polymorphism was 13.4%, with a calculated heterozygosity rate of 23.2% and an observed one of 25.1%. CTLA4 and CD28 are two genes in close proximity on the long arm of chromosome 2. Both of them influence T-cell activity in an antigen-independent way. They represent candidate genes for several immunological disorders. Recently association between the CTLA4 gene and Graves' disease has been shown. The Mse I RFLP in the CTLA4 promotor might serve as a useful tool for further association studies.

Publication types

  • Research Support, Non-U.S. Gov't

MeSH terms

  • Abatacept
  • Alleles
  • Antigens, CD
  • Antigens, Differentiation / genetics*
  • Base Sequence
  • CD28 Antigens / genetics
  • CTLA-4 Antigen
  • Codon, Initiator / genetics
  • DNA Primers / genetics
  • Deoxyribonucleases, Type II Site-Specific
  • Gene Frequency
  • Graves Disease / genetics
  • Graves Disease / immunology
  • Humans
  • Immunoconjugates*
  • Molecular Sequence Data
  • Polymorphism, Restriction Fragment Length*
  • Promoter Regions, Genetic*


  • Antigens, CD
  • Antigens, Differentiation
  • CD28 Antigens
  • CTLA-4 Antigen
  • CTLA4 protein, human
  • Codon, Initiator
  • DNA Primers
  • Immunoconjugates
  • Abatacept
  • endodeoxyribonuclease MseI
  • Deoxyribonucleases, Type II Site-Specific

Associated data

  • GENBANK/Y08824