Relationship between MTHFR,MTRR gene polymorphism and embryonic development termination

Qin Qi; You Fengzhi; Zhang Yi

doi:10.13406/j.cnki.cyxb.000745

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Relationship between MTHFR,MTRR gene polymorphism and embryonic development termination

更新时间：2024-01-17

- Relationship between MTHFR,MTRR gene polymorphism and embryonic development termination
- Journal of Chongqing Medical University Vol. 41, Issue 3, Pages: 243-246(2016)
- 作者机构：
  
  郑州大学第三附属医院妇产科
- 作者简介：
- 基金信息：
- DOI：10.13406/j.cnki.cyxb.000745
  CLC： R714.21
- Published：2016，
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[1]秦奇,有风芝,张仪.亚甲基四氢叶酸还原酶和甲硫氨酸合成酶还原酶基因多态性与胚胎停止发育的相关性研究[J].重庆医科大学学报,2016,41(03):243-246.

Qin Qi, You Fengzhi, Zhang Yi. Relationship between MTHFR,MTRR gene polymorphism and embryonic development termination. [J]. Journal of Chongqing Medical University 41(3):243-246(2016)
[1]秦奇,有风芝,张仪.亚甲基四氢叶酸还原酶和甲硫氨酸合成酶还原酶基因多态性与胚胎停止发育的相关性研究[J].重庆医科大学学报,2016,41(03):243-246. DOI： 10.13406/j.cnki.cyxb.000745.

Qin Qi, You Fengzhi, Zhang Yi. Relationship between MTHFR,MTRR gene polymorphism and embryonic development termination. [J]. Journal of Chongqing Medical University 41(3):243-246(2016) DOI： 10.13406/j.cnki.cyxb.000745.

摘要

目的:分析亚甲基四氢叶酸还原酶（methylenetetrahydrofolate reductase

MTHFR）和甲硫氨酸合成酶还原酶（methionine synthase reductase

MTRR）基因多态性与胚胎停育的相关性。方法:采用q RT-PCR检测有胚胎停育史的妇女90例（病例组）和正常妊娠妇女99例（对照组）口腔黏膜细胞MTHFRC677T、A1298C和MTRRA66G的基因多态性

并对分布特点进行统计分析。结果:（1）病例组90例中MTHFRC677T纯合突变TT型41例45.6%

杂合突变CT型32例35.6%

野生基因型CC型17例18.8%

对照组99例MTHFRC677T TT型6例6.1%

CT型55例55.5%

CC型38例38.4%

3组基因型比较均有统计学差异（χ2TT=39.358

PTT=0.000

χ2CT=7.591

PCT=0.006

χ2cc=8.684

PCC=0.003）;（2）MTHFRA1298C位点单基因突变

病例组中等位基因A、C频率分别为87.2%、12.8%

对照组分别为86.9%、13.1%。两组间A、C等位基因的出现频率无明显差异（χ2=0.010

P=0.919）;（3）MTHFRA1298C与MTHFRC677T协同突变时只有1种CT+AC型

病例组与对照组的CT+AC基因分布频率分别为14.4%和4.00%（χ2=6.234

P=0.013）;（4）2组MTRRA66G基因型AA

AG+GG及等位基因A的χ2值分别为4.78、11.343、7.846

P值分别为0.029、0.001、0.005

差异有统计学意义。结论:MTHFRC677T、MTRRA66G两位点单基因突变易造成胚胎停育;MTHFRA1298C位点单基因突变与胚胎停止发育无相关性;MTHFRC677T与MTHFRA1298C协同突变可能是导致胚胎停育的原因。

Abstract

Objective:To analyze the relationship of the embryonic development termination and the gene polymorphism of MTHFR and MTRR. Methods:MTHFRC677T

A1298 C and MTRRA66 G genotypes were analyzed by quantitative PCR in 90 women with embryonic stop fertility history(case group)and 99 normal pregnant women(control group). The characteristics of distribution were analyzed bystatistical software. Results:In case group

possibilities of MTHFRC677 T TT(puremutant

41 samples)

CT(heterozy gousmutant

55 samples)

CC(wild type

17 samples)genotypes were 45.6%

35.6%

18.8% respectively

comparing with 6.1%

55.5%

38.4%in control group. The results showed obvious difference in genortypes of TT

and CC(χ2TT=39.358

PTT=0.000

χ2CT=7.591

PCT=0.006

χ2cc=8.684

PCC=0.003). When A1298 C mutated alone

the frequencies of A allele in case group and control group were 87.2% and 86.9%;the frequencies of C allele in case group and control group were 12.8% and 13.1%;there was no significant difference between them(χ2=0.010

P=0.919). There was only CT+AC when MTHFRA1298 C mutated in collaboration with MTHFRC677T;the frequencies of CT+AC homozygote in case group and control group were 14.4% and 4.00%(χ2=6.234

P=0.013). The comparison of the MTRRA66 G polymorphism between case group and control group:Chi-square values of AA

AG+GG

allele A were 4.78

11.343

7.846(P values were0.029

0.001

0.005). Conclusion:Single gene mutation of MTHFRC677 T and MTRRA66 G gene locus can easily lead to embryonic development termination. The mutation of MTHFR1298A-C can not induce embryonic development termination

but it may become a risk factor for embryonic development termination when it occurs with the mutation of 677C-T.

关键词

胚胎停止发育MTHFR和MTRR基因基因多态性

Keywords

embryonic development terminationMTHFR and MTRR genespolymorphism

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