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박경숙,Podskarbi, T .,유은아,신윤숙 한국유전학회 1998 Genes & Genomics Vol.20 No.1
The C677T mutation in the methylenetetrahydrofolate reductase (MTHFR) gene converts an alanine to a valine in a conserved part of the enzyme and is associated with a thermolabile phenotype and decreased the enzyme activity. The genetic thermolability of the C677T MTHFR mutation is common in general population, but its frequency varies in different ethnic groups. In homozygotes, the mutation is also related to hyperhomocysteinemia and increased risk for atherosclerotic disease and venous thrombosis, but decreased as the age of the subject is increased. We have investigated the frequency of the C677T mutation in the MTHFR gene in 460 Koreans. The genotype frequency of the heterozygote was 53.5% and that of the homozygote 16.1%. The allele frequency of the C677T was 0.4283 which is similar in Japanese, Caucasians, higher than Blacks and American Indians. The C677T MTHFR mutation data could be useful for studying human population differences and significance of the mutation in disease.