NCOI RESTRICTION-FRAGMENT-LENGTH-POLYMORPHISM AT -308 OF THE TUMOR-NECROSIS-FACTOR-ALPHA (TNFA) PROMOTER REGION IN KOREAN

Tumor necrosis factor alpha (TNFA) is a cytokine, which is secreted fr om activated macrophage, with a broad range of biological activities. The gene encoding TNFA is located in tandem with the TNFB gene within the HLA complex on chromosome 6p21.3. We detected a single base polymo rphism in the human TNFA gene promoter region in 300 unrelated Korean individuals. The TNFA promoter region which showed a G to A transition at position of - 308 was investigated by NcoI restriction fragment le ngth polymorphism analysis. A biallelic polymorphism of TNFA gene show ed fragments of 87/20 bp and 107 bp acting as TNFA1 allele and TNFA*2 allele, respectively. The allele frequencies of TNFA1 and TNFA*2 wer e 0.8783 and 0.1217, respectively. The 21.7% of heterozygosity was obs erved. No association between promoter region phenotypes of TNFA and t he first intron phenotypes of TNFB was observed in Korean. Allele freq uencies of Koreans were compared with that of Europeans.