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父母高同型半胱氨酸血症及C677T亚甲基四氢叶酸还原酶(MTHFR)基因多态性与复发性流产的相关性

Association of parental hyperhomocysteinemia and C677T Methylene tetrahydrofolate reductase (MTHFR) polymorphism with recurrent pregnancy loss.

作者信息

Govindaiah Vinukonda, Naushad Shaik Mohammad, Prabhakara Krishnamurthy, Krishna Prasad Chintakindi, Radha Rama Devi Akella

机构信息

Dept. of pathology, New York Medical College, Valhalla, NY 10595, USA.

出版信息

Clin Biochem. 2009 Mar;42(4-5):380-6. doi: 10.1016/j.clinbiochem.2008.12.003. Epub 2008 Dec 16.

Abstract

OBJECTIVES

To investigate the association of parental hyperhomocysteinemia, C677T Methylene tetrahydrofolate reductase (MTHFR) polymorphism and DNA damage with recurrent pregnancy loss (RPL).

DESIGN AND METHODS

A case-control study. Reverse phase HPLC, PCR-RFLP and Cytokinesis blocked micronuclei assay were used to assess total plasma homocysteine, C677T MTHFR polymorphism and DNA damage respectively. Student t-test, ANOVA and Fisher exact test were used for statistical analysis.

RESULTS

Maternal [mean: 11.6+/-5.0 versus 8.6+/-4.2 micromol/L, odds ratio (OR): 4.48] and paternal [mean: 19.6+/-9.5 versus 14.2+/-7.4 micromol/L, OR: 6.92] hyperhomocysteinemia, paternal age [OR: 1.16], paternal MTHFR 677T allele [OR: 2.30] and DNA damage were found to increase the risk for RPL. DNA damage showed positive correlation with plasma homocysteine and MTHFR 677T allele.

CONCLUSIONS

Parental hyperhomocysteinemia, paternal age, paternal C677T MTHFR polymorphism and DNA damage are risk factors for RPL. DNA damage showed positive correlation with plasma homocysteine and MTHFR 677T allele.

摘要

目的

研究父母高同型半胱氨酸血症、C677T亚甲基四氢叶酸还原酶(MTHFR)基因多态性及DNA损伤与复发性流产(RPL)之间的关联。

设计与方法

一项病例对照研究。分别采用反相高效液相色谱法、聚合酶链反应-限制性片段长度多态性分析(PCR-RFLP)和胞质分裂阻滞微核试验评估血浆总同型半胱氨酸水平、C677T MTHFR基因多态性及DNA损伤情况。采用学生t检验、方差分析和Fisher精确检验进行统计学分析。

结果

发现母亲[均值:11.6±5.0对8.6±4.2 μmol/L,比值比(OR):4.48]和父亲[均值:19.6±9.5对14.2±7.4 μmol/L,OR:6.92]高同型半胱氨酸血症、父亲年龄[OR:1.16]、父亲MTHFR 677T等位基因[OR:2.30]及DNA损伤会增加复发性流产的风险。DNA损伤与血浆同型半胱氨酸及MTHFR 677T等位基因呈正相关。

结论

父母高同型半胱氨酸血症、父亲年龄、父亲C677T MTHFR基因多态性及DNA损伤是复发性流产的危险因素。DNA损伤与血浆同型半胱氨酸及MTHFR 677T等位基因呈正相关。

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