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5,10-亚甲基四氢叶酸还原酶(MTHFR)基因常见的677C>T突变对卵巢对重组促卵泡激素反应性的影响。

Effects of the common 677C>T mutation of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene on ovarian responsiveness to recombinant follicle-stimulating hormone.

作者信息

Thaler Christian J, Budiman Helen, Ruebsamen Heike, Nagel Dorothea, Lohse Peter

机构信息

Department of Obstetrics and Gynecology-Grosshadern, University Hospital, Ludwig-Maximilians-University, Munich, Germany.

出版信息

Am J Reprod Immunol. 2006 Apr;55(4):251-8. doi: 10.1111/j.1600-0897.2005.00357.x.

Abstract

PROBLEM

The common 677C>T mutation of the 5,10-methylenetetrahydrofolate reductase (MTHFR) gene is less prevalent in mothers of spontaneously conceived dichorionic twins than in those with singleton pregnancies. (Hasbargen U, Lohse P, Thaler CJ: Hum Reprod 2000; 15:2659-2662). As polyovulation is a pre-requisite for dichorionic pregnancies, we investigated whether the T allele is associated with reduced ovarian responsiveness to follicle-stimulating hormone (FSH).

MATERIALS AND METHODS

We studied 105 infertility patients undergoing a total of 269 A.R.T cycles stimulated with recombinant (r)-FSH. The MTHFR 677C>T genotype was analyzed by digestion of polymerase chain reaction-amplified DNA fragments.

RESULTS

Homozygous 677C patients older than 35, required significantly (P <0.02) less r-FSH and produced significantly more oocytes (P < 0.04) and higher maximal serum estradiol concentrations (P < 0.002) than heterozygous or homozygous carriers of the 677T allele.

CONCLUSION

Our results suggest that, in patients of advanced reproductive age, the MTHFR 677C>T mutation affects ovarian responsiveness.

摘要

问题

与单胎妊娠的母亲相比,自然受孕的双绒毛膜双胎母亲中常见的5,10 - 亚甲基四氢叶酸还原酶(MTHFR)基因677C>T突变的发生率较低。(哈斯巴根U,洛泽P,塔勒CJ:《人类生殖》2000年;15:2659 - 2662)。由于多卵泡排卵是双绒毛膜妊娠的一个先决条件,我们研究了T等位基因是否与卵巢对促卵泡激素(FSH)的反应性降低有关。

材料与方法

我们研究了105例接受重组(r)-FSH刺激的共269个辅助生殖技术(ART)周期的不孕患者。通过聚合酶链反应扩增的DNA片段消化来分析MTHFR 677C>T基因型。

结果

年龄大于35岁的纯合677C患者比677T等位基因的杂合或纯合携带者需要显著更少的r-FSH(P < 0.02),产生显著更多的卵母细胞(P < 0.04)以及更高的血清雌二醇峰值浓度(P < 0.002)。

结论

我们的结果表明,在高龄生育患者中,MTHFR 677C>T突变影响卵巢反应性。

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