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2003•Di-Si Junyi Daxue xuebaoRequires access

Two genetic polymorphisms of 5, 10-methylenetetrahydrofolate reductase among the Han people in Xian area

Wen Sun

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Abstract

AIM: To find out two genetic polymorphisms of MTHFR among the Han people in Xian area. METHODS: PCR RFLP technique was used to detect C677T and A1298C polymorphisms of MTHFR. RESULTS: The allele frequencies of 677T and 1298C were 45% and 20%, respectively and the homozygote frequencies of 677TT and 1298CC were 18% and 3%, respectively. The frequence of combined heterozygosity for the C677T and A1298C mutations was 21%. CONCLUSION: The genetic polymorphism of MTHFR from our study is different from those previously reported by others, which may due to differences between populations.

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AIM: To find out two genetic polymorphisms of MTHFR among the Han people in Xian area. METHODS: PCR RFLP technique was used to detect C677T and A1298C polymorphisms of MTHFR. RESULTS: The allele frequencies of 677T and 1298C were 45% and 20%, respectively and the homozygote frequencies of 677TT and 1298CC were 18% and 3%, respectively. The frequence of combined heterozygosity for the C677T and A1298C mutations was 21%. CONCLUSION: The genetic polymorphism of MTHFR from our study is different from those previously reported by others, which may due to differences between populations.

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Available abstract

AIM: To find out two genetic polymorphisms of MTHFR among the Han people in Xian area. METHODS: PCR RFLP technique was used to detect C677T and A1298C polymorphisms of MTHFR. RESULTS: The allele frequencies of 677T and 1298C were 45% and 20%, respectively and the homozygote frequencies of 677TT and 1298CC were 18% and 3%, respectively. The frequence of combined heterozygosity for the C677T and A1298C mutations was 21%. CONCLUSION: The genetic polymorphism of MTHFR from our study is different from those previously reported by others, which may due to differences between populations.

Key concepts: Methylenetetrahydrofolate reductase, Loss of heterozygosity, Allele, Genetics, Restriction fragment length polymorphism, Polymorphism (computer science), Biology, Heterozygote advantage

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