Summary
The tumor necrosis factor B (TNFB) gene is closely liked with tumor necrosis factor A (TNFA) gene between theHLA-B andC2 genes on chromosome 6p21.3. Several genetic variabilities at the humanTNFB loci have been identified, which are theNcoI restriction fragment length polymorphism (RFLP) in the first intron, amino acid substitution at codon 26 of exon 3 andEcoRI RFLP in untranslated exon 4. TheNcoI RFLP ofTNFB gene gives two allelic fragments of 238/259 bp and 497 bp, corresponding toTNFB*1 andTNFB*2 alleles, respectively. To investigate the frequency ofNcoI RFLP in the first intron ofTNFB in Koreans and to compare to that of other ethnic population, genomic DNAs were extracted from leukocytes of 305 unrelated healthy Koreans and amplified the first intron ofTNFB gene by PCR. The phenotype frequencies ofNcoI RFLP such asTNFB*1/TNFB*1, TNFB*1/TNFB*2 andTNFB*2/TNFB*2 were 8.6% (n=26), 45.2% (n=138) and 46.2% (n=141), respectively. The estimated allele frequencies forTNFB*1 andTNFB*2 were 0.3115 and 0.6885, respectively. The observed and expected frequencies were in good agreement with the Hardy-Weinberg’s equilibrium. The heterozygosity revealed 45.2% and the allele frequencies ofNcoI RFLP ofTNFB in Koreans were observed comparatively similar to those of other ethnic groups.
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Park, KS., Mok, JW. & Kim, MY. Analysis of the first intron ofTNFB gene byNcoI RFLP in koreans. Jap J Human Genet 42, 357–362 (1997). https://doi.org/10.1007/BF02766959
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DOI: https://doi.org/10.1007/BF02766959