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。
Objective：To analyze the relationship of the embryonic development termination and the gene polymorphism of MTHFR and MTRR. Methods ：MTHFRC677T,A1298C and MTRRA66G genotypes were analyzed by quantitative PCR in 90 women with em- bryonic stop fertility history（case group） and 99 normal pregnant women（control group）. The characteristics of distribution were ana- lyzed bystatistical software. Results：In case group, possibilities of MTHFRC677T 33（puremutant, 41 samples）, CT （heterozy gousmu- tant, 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, CT, and CC （χ2TT=39.358,PTT=0.000,χ2CT=7.591,PCT=0.006,χ2cc=8.684,PCC=0.003）;（2）MTHFRA1298C 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 （x2=0.010,P=0.919）. There was only CT＋AC when MTHFRA1298C mutated in collaboration with MTHFRC677T;the frequencies of CT＋AC homozygote in case group and control group were 14.4% and 4.00%（X2=6.234,P=0.013）. The comparison of the MTRRA66G 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 were 0.029,0.001,0.005）. Conclusion：Single gene mutation of MTHFRC677T and MTRRA66G gene locus can easily lead to embryonic development termination. The mutation of MTHFR1298A-C can not induce embryonic development termination,but it may become arisk factor for embryonic development termination when it oc- curs with the mutation of 677C-T.
出处
《重庆医科大学学报》
CAS
CSCD
北大核心
2016年第3期243-246,共4页
Journal of Chongqing Medical University
