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熊 薇, 饶津宁, 谭世桥.MTHFR基因突变与中国汉族妇女特发性卵巢早衰相关性研究.四川大学学报(医学版),2018,49(6):904-909
MTHFR基因突变与中国汉族妇女特发性卵巢早衰相关性研究
Correlation Between MTHFR Mutation and Idiopathic Premature Ovarian Failure in Chinese Han Women
  
中文关键词:  卵巢早衰 亚甲基四氢叶酸还原酶 基因基因多态性
英文关键词:Premature ovarian failure MTHFR Gene polymorphisms
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中文摘要:
      目的 探讨亚甲基四氢叶酸还原酶(MTHFR)基因677C/T多态性与中国汉族核型为46,XX的特发性卵巢早衰(POF)发病的关系。方法 选择汉族特发性POF患者147例,同期收集汉族不孕(非卵巢功能性原因)患者166例为对照组。采用RT-PCR在基因水平测定外周血中MTHFR基因的表达,并通过限制性片段长度多态性分析(restriction fragment length polymorphism,RFLP)鉴定MTHFR基因677C/T基因型类型,统计基因型频率与等位基因频率,随机抽取PCR产物样本进行基因测序验证PCR扩增片段,探讨MTHFR基因多态性与特发性POF临床特征的关系。结果 基因测序结果显示,PCR扩增片段为目的基因片段,基因型类型与酶切显示基因型类型100%相符合。POF组与对照组MTHFR基因677C/T基因型分布均符合Hardy-Weinbreg平衡定律(P>0.05)。MTHFR 677C/T的CC、CT、TT基因型频率在POF组分别是48.3%、40.8%、10.9%,在对照组分别是37.3%、47.6%、15.1%,两组间基因型分布频率差异无统计学意义(χ2=4.04,P>0.05)。T、C等位基因分布频率在POF组分别为31.3%、68.7% ,对照组为38.9%、61.1%,两组之间等位基因分布频率差异无统计学意义(χ2=3.90,P=0.05)。对POF组者根据闭经年龄、卵泡刺激素、雌激素、子宫内膜厚度及窦卵泡数目进行亚组分析,发现CC与CT+TT基因型分布频率差异在各亚组间无统计学意义(P>0.05)。结论 MTHFR基因677 C/T可能不是中国汉族妇女特发性POF发生的易感基因。
英文摘要:
      Objective To investigate whether the methylene tetrahydrofolate reductase (MTHFR) 677C/T polymorphisms were related to the prevalence of 46,XX premature ovarian failure (POF) in Chinese Han women. Methods Infertile Chinese Han women were divided into 2 groups: POF group (n=147) and control group (n=166).The expression of MTHFR gene in peripheral blood was determined by RT-PCR. The 677C/T genotype of MTHFR gene was identified by restriction fragment length polymorphism (RFLP). Genotype frequencies and allele frequencies were counted. PCR product were randomly examined for gene sequencing to verify whether the amplified fragment. Relationship between MTHFR gene polymorphism and clinical characteristics of idiopathic POF was analyzed. Results The results of gene sequencing showed that the PCR amplification fragment was the target gene fragment, and the sequencing showed that the genotype was 100% consistent with the enzymatic display genotype. The MTHFR 677C/T genotype distribution in both the POF group and the control group was consistent with the Hardy-Weinbreg balance law (P>0.05). The frequencies of CC, CT and TT genotypes of MTHFR 677C/T were 48.3%, 40.8% and 10.9% in the POF group, and 37.3%, 47.6% and 15.1% in the control group, respectively. There was no statistically significant difference in the frequency of genotypes between the two groups (χ2=4.04, P>0.05). The T, C allele frequencies were 31.3% and 68.7% in POF, 38.9% and 61.1% in control group, there were no significant differences in the frequencies of T, C alleles between the two groups (χ2=3.90, P=0.05).Subgroup analyzes in POF group, no significant difference were detected between CC and CT+TT genotypes in ]menopause age, FSH, E2, endometrial thickness and antral follicle number. Conclusion The distribution of the MTHFR 677C/T polymorphisms in Chinese Han POF population was not significantly different from controls, implying that MTHFR gene polymorphisms may not be the risk factor of idiopathic POF occurred in Chinese.
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