摘要
目的分析妊娠早期孕妇MTHFR C677T和MTHFR A1298C两个位点基因型的单核苷酸多态性,并研究其与同型半胱氨酸水平的相关性。方法选取2024年8月-2025年2月英德市人民医院孕早期检查的妇女426例,采用PCR荧光探针熔解曲线法检测MTHFR C677T和MTHFR A1298C基因型,循环酶法检测同型半胱氨酸水平,分析两者关联。结果426例孕早期妇女中MTHFR C677T位点TT基因型32例(7.51%),CT基因型161例(37.79%),CC基因型233例(54.69%),TT基因型同型半胱氨酸水平为(6.48±2.59)μmol/L,明显高于CT基因型(5.48±2.15)μmol/L(P<0.05)和CC基因型(5.30±2.10)μmol/L(P<0.05);MTHFR A1298C位点CC基因型23例(5.40%),AC基因型171例(40.14%),AA基因型232例(54.46%),CC基因型同型半胱氨酸水平为(6.49±2.45)μmol/L,明显高于AC基因型(5.18±2.04)μmol/L(P<0.05)和AA基因型(5.51±2.40)μmol/L(P<0.05)。结论MTHFR基因多态性可影响孕早期妇女的同型半胱氨酸水平,C677T位点TT基因型和A1298C位点CC基因型孕早期妇女应关注同型半胱氨酸浓度,科学补充叶酸,降低妊娠风险。
Objective To investigate the single nucleotide polymorphisms of MTHFR C677T and A1298C genotypes and their association with homocysteine(Hcy)levels in first-trimester pregnant women.Methods A total of 426 pregnant women undergoing first-trimester examinations at Yingde People’s Hospital from August 2024 to February 2025 were enrolled.MTHFR C677T and A1298C genotypes were detected using PCR-fluorescent probe melting curve method,while Hcy levels were measured by enzymatic cycling assay.Statistical analysis was performed to evaluate genotype distribution and Hcy concentration correlations.Results Among 426 participants,the MTHFR C677T genotype frequencies were:TT 7.51%(32/426),CT 37.79%(161/426),and CC 54.69%(233/426).TT carriers exhibited significantly higher Hcy levels(6.48±2.59μmol/L)compared to CT(5.48±2.15μmol/L,P<0.05)and CC genotypes(5.30±2.10μmol/L,P<0.05).For MTHFR A1298C,genotype frequencies were:CC 5.40%(23/426),AC 40.14%(171/426),and AA 54.46%(232/426).CC carriers demonstrated elevated Hcy levels(6.49±2.45μmol/L)versus AC(5.18±2.04μmol/L,P<0.05)and AA genotypes(5.51±2.40μmol/L,P<0.05).Conclusion MTHFR polymorphisms significantly influence Hcy levels in first-trimester pregnant women.Enhanced monitoring of Hcy concentrations and rational folic acid supplementation should be recommended for TT(C677T)and CC(A1298C)genotype carriers to mitigate pregnancy risks.
作者
华小翠
陈淑娴
郭润
Hua Xiaocui;Chen Shuxian;Guo Run(Yingde People’s Hospital,Yingde,Guangdong 513000,China)
出处
《首都食品与医药》
2025年第13期77-79,共3页
Capital Food Medicine
