title: An Mse I RFLP in the human CTLA4 promotor.
abstract: 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.
authors.affiliation: University Children's Hospital, University of Freiburg, Germany.
authors.forename: K
authors.initials: K
authors.lastname: Deichmann
authors.forename: A
authors.initials: A
authors.lastname: Heinzmann
authors.forename: E
authors.initials: E
authors.lastname: Brüggenolte
authors.forename: J
authors.initials: J
authors.lastname: Forster
authors.forename: J
authors.initials: J
authors.lastname: Kuehr
mesh_terms: D000069594:Abatacept; D000483:Alleles; D015703:Antigens, CD; D000943:Antigens, Differentiation / Q000235:genetics*; D001483:Base Sequence; D018106:CD28 Antigens / Q000235:genetics; D060908:CTLA-4 Antigen; D018387:Codon, Initiator / Q000235:genetics; D017931:DNA Primers / Q000235:genetics; D015252:Deoxyribonucleases, Type II Site-Specific; D005787:Gene Frequency; D006111:Graves Disease / Q000235:genetics / Q000276:immunology; D006801:Humans; D018796:Immunoconjugates; D008969:Molecular Sequence Data; D012150:Polymorphism, Restriction Fragment Length; D011401:Promoter Regions, Genetic
chemical_list: D015703:Antigens, CD; D000943:Antigens, Differentiation; D018106:CD28 Antigens; D060908:CTLA-4 Antigen; C556706:CTLA4 protein, human; D018387:Codon, Initiator; D017931:DNA Primers; D018796:Immunoconjugates; D000069594:Abatacept; C055927:endodeoxyribonuclease MseI; D015252:Deoxyribonucleases, Type II Site-Specific