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Tumor necrosis factor alpha (TNFA) is a cytokine, which is secreted from 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 polymorphism 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 length polymorphism analysis. A biallelic polymorphism of TNFA gene showed fragments of 87/20 bp and 107 bp acting as TNFA*1 allele and TNFA*2 allele, respectively. The allele frequencies of TNFA*1 and TNFA*2 were 0.8783 and 0.1217, respectively. The 21.7% of heterozygosity was observed. No association between promoter region phenotypes of TNFA and the first intron phenotypes of TNFB was observed in Korean. Allele frequencies of Koreans were compared with that of Europeans.

NcoI restriction fragment length polymorphism at — 308 of the tumor necrosis factor alpha (TNFA) promoter region in korean