Summary
Tumor necrosis factor alpha (TNFA) is a cytokine, which is secreted from activated macrophage, with a broad range of biological activities. The gene encodingTNFA is located in tandem with theTNFB gene within the HLA complex on chromosome 6p21.3. We detected a single base polymorphism in the humanTNFA gene promoter region in 300 unrelated Korean individuals. TheTNFA promoter region which showed a G to A transition at position of −308 was investigated byNcoI restriction fragment length polymorphism analysis. A biallelic polymorphism ofTNFA gene showed fragments of 87/20 bp and 107 bp acting asTNFA*1 allele andTNFA*2 allele, respectively. The allele frequencies ofTNFA*1 andTNFA*2 were 0.8783 and 0.1217, respectively. The 21.7% of heterozygosity was observed. No association between promoter region phenotypes ofTNFA and the first intron phenotypes ofTNFB was observed in Korean. Allele frequencies of Koreans were compared with that of Europeans.
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Park, K.S., Kim, MY. & Mok, JW. NcoI restriction fragment length polymorphism at — 308 of the tumor necrosis factor alpha (TNFA) promoter region in korean. Jap J Human Genet 42, 241–247 (1997). https://doi.org/10.1007/BF02766929
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DOI: https://doi.org/10.1007/BF02766929