Genetic polymorphisms of human complement components BF and C2 in Korean: Population and association studies

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Summary

Polymorphisms of the factor B and the second component of human complement were investigated in 220 unrelated healthy Koreans. In the BF system, three phenotypes, S, FS, and F, were observed, while no rare variants were detected. The estimated allele frequencies forBF * S andBF * F were 0.775 and 0.225 respectively. In the C2 system, one common phenotype, C, and three heterozygous types, BC, BHC, and ATC, were observed. The estimated allele frequencies forC2 * C,C2 * B,C2 * BH, andC2 * AT were 0.961, 0.018, 0.011, and 0.009, respectively. Significant positive association betweenC2 * AT andBF * F was found. Gene frequencies in Korean were compared with those in other populations.

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Keywords

  • Major Histocompatibility Complex
  • Genetic Polymorphism
  • Human Complement
  • Estimate Allele Frequency
  • Human Major Histocompatibility Complex Class

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