生殖医学杂志

目的 探讨亚甲基四氢叶酸还原酶(MTHFR) C677T、A1298C及蛋氨酸合成酶还原酶(MTRR) A66G基因多态性在男性无精子症患者中的分布情况。方法 选取于2020年1月至2023年8月就诊于新疆佳音医院不孕不育门诊的97名无精子症患者，所有患者进行睾丸组织活检并基因测序MTHFR C677T、A1298C及MTRR A66G基因的多态性。按照手术中是否找到精子将患者分为有精子组(n=70)和无精子组(n=27),比较两组患者的基本资料以及MTHFR C677T、A1298C及MTRR A66G基因型多态性的频率及等位基因频率分布。结果 两组患者间年龄、体质量指数(BMI)以及是否伴随精索静脉曲张的差异均无统计学意义(P>0.05)。MTHFR C677T包括CC、CT、TT三个基因型及C、T两个等位基因，A1298C包括AA、AC、CC三个基因型及A、C等位基因；MTRR A66G包括AA、AG、GG三个基因型，A、G两个等位基因。有精子组和无精子组患者的MTHFR基因677位点TT基因型频率分别为18.6%、18.5%,T等位基因频率分别为42.1%、40.7%;MTHFR基因1298位点CT基因型频率分别为4.3%、3.7%,C等位基因频率分别为20.7%、18.5%;MTRR基因66位点GG基因型频率分别为9.2%、8.0%,G等位基因频率分别为34.6%、40.0%;两组患者间MTHFR C677T、A1298C及MTRR A66G的基因型频率和等位基因频率比较，差异均无统计学意义(P>0.05)。结论 MTHFR C677T、A1298C及MTRR A66G基因多态性在无精子症患者中的分布无显著变化，MTHFR基因和MTRR基因的多态性对睾丸内是否能找到精子也无显著影响。

Objective:To explore the distribution of methylene tetrahydrofolate reductase(MTHFR) C677T,MTHFR A1298C and methionine synthase reductase(MTRR) A66G gene polymorphisms in patients with azoospermia.Methods:Ninety-seven patients with azoospermia who visited the infertility clinic of Jiayin Hospital in Xinjiang were recruited for testicular tissue biopsy and gene sequencing of MTHFR C677T,MTHFR A1298C and MTRR A66G gene polymorphisms. According to whether sperm was found during surgery, patients were divided into two groups: the sperm group(n=70) and no sperm group(n=27). The basic characteristics as well as the frequency and allele frequency distribution of MTHFR C677T,MTHFR A1298C and MTRR A66G gene polymorphisms of the two groups were compared.Results:There were no significant differences in the age, body mass index(BMI) and concomitant of varicocele between the two groups(P>0.05). MTHFR C677T included three genotypes of CC,CT and TT as well as C and T alleles. MTHFR A1298C included three genotypes of AA,AC and CC as well as A and C alleles. MTRR C677T included three genotypes of AA,AG and GG as well as A and G alleles. The TT genotype frequencies at 677 locus of the MTHFR gene were 18.6% and 18.5% respectively, and the T allele frequencies were 42.1% and 40.7%. The CT genotype frequencies at 1298 locus of the MTHFR gene were 4.3% and 3.7% respectively, and the C allele frequencies were 20.7% and 18.5%. The GG genotype frequencies at 66 locus of the MTRR gene were 9.2% and 8.0% respectively, and the G allele frequencies were 34.6% and 40.0%. There were no significant differences in genotype frequency and allele frequency of MTHFR C677T,MTHFR A1298C and MTRR A66G between the two groups(P>0.05).Conclusions:No significant changes were found in the distribution of MTHFR C677T,MTHFR A1298C and MTRR A66G gene polymorphisms. The polymorphisms of MTHFR and MTRR genes can not make a good prediction of whether sperm can be found in the testes.