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河南汉族人群亚甲基四氢叶酸还原酶基因多态性 被引量:3

Detection of polymorphisms of methylenetetrahydrofolate reductase of Han population in Henan
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摘要 目的了解河南汉族人亚甲基四氢叶酸还原酶(methylenetetrahydrofolate reductase,MTHFR)基因的分布特点。方法应用PCR-RFLP技术对500例健康个体的MTHFRC677T基因进行基因多态性分析,并结合文献进行了不同种族间的分析比较。结果河南汉族人群中MTHFRC677T突变纯合子TT型频率为32.8%,突变杂合子CT型频率为34.6%,野生型CC型频率为32.6%,T等位基因频率51.1%,与其他种族相比较,MTHFRC677T基因型在中国河南汉族正常人群中的分布与其他人群中的分布差异显著。结论MTHFRC677T基因多态性在不同种族间分布存在着明显的差异。 Objective:To identify the distribution feature of MTHFR C677T genes in Han population in Henan province. Mehtords:The polymorphisms of MTHFR C677T gene were detected using PCR - RFLP. Results :There were three kinds of genetypes:homozygous mutation Tr- type,heterozygous mutation CT- type,and wild -type CC. The frequencies of the three genetypes were as follows :Tr-type 32. 8% ,CT - type 34. 6% ,CC - type 32. 6%. Conclution: MTHFR C677T,gene polymorphisms are common in Henan Han population. There were possibly exists ethic or geographic diference in these three polymorphisms. There may be diversity among diffenent races and regions.
出处 《中国优生与遗传杂志》 2007年第10期19-20,81,共3页 Chinese Journal of Birth Health & Heredity
基金 河南省高校杰出人才创新工程基金资助2005KYCX020 河南省杰出青年科学基金资助0612001300
关键词 河南汉族人 MTHFRC677T基因 多态性 Methylenetetraphydrofolate ruductase The Hans in Henan Province Polymorphism
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