Abstract To analyze the distribution of 5, 10-methylenetetrahydro folic acidreductase (MTHFR) C677T locus polymorphism of women of childbearing age, and to study its correlation with the adverse pregnancy outcomes of the women in Changji of Xinjiang. Methods: 642 women of childbearing age were collected in control group from May 2023 to February 2024. Another 285 women with pregnant history (in study group) were selected in study group, including 146 cases with adverse pregnant history in group A and 139 cases without adverse pregnant history in group B. The blood samples of the women in the control group and the study group were collected, and the polymorphism of MTHFR gene C677T locus of these women was detected by fluorescence quantitative polymerase chain reaction. The characteristics of the gene polymorphism of the women in these groups were analyzed. Results: The genotype frequencies of CC, CT and TT of MTHFR C677T locus of 642 women of childbearing age were 26.0%, 51.3% and 22.7%, respectively, which were significantly different from those of the women in the southern and northern cities of China (P<0.05). In this study, there was no significant differences in the gene types and the frequency of alleles among the women with different age (P>0.05). The proportions of the normal non-risk genotype (CC genotype) of the women in group A and group B were 22.6% and 27.3%, the proportions of the moderate risk genotype (CT genotype) of the women in group A and group B were 50.7% and 51.8%, and the proportions of the high risk genotype (TT genotype) of the women in group A and group B were 26.7% and 20.9%. There were significant differences in the proportions of the different genotype of the women between group A and group B (P<0.05). Conclusion: The distribution of MTHFR C677T genotype of the women of childbearing age has significantly regional different and the homozygous mutation (TT Type) of the women may be associated with their adverse pregnancy outcomes.
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