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Methylenetetrahydrofolate Reductase Dimer Configuration as a Risk Factor for Maternal Meiosis I-Derived Trisomy 21
Human Heredity ( IF 1.8 ) Pub Date : 2021-03-30 , DOI: 10.1159/000515121
Jadranka Vraneković 1 , Ivana Babić Božović 2 , Iva Bilić Čače 3 , Bojana Brajenović Milić 1
Affiliation  

Background: Evidence suggests that the dimer configuration of methylenetetrahydrofolate reductase (MTHFR) enzyme might be destabilized by polymorphisms in monomers at the positions C677T and A1298C. It has been observed that these polymorphisms may lead to stable (CCAA, CCAC, CCCC) and unstable (CTAA, CTAC, TTAA) enzyme dimer configurations. Objective: The aim of this study was to evaluate the association of the MTHFR enzyme dimer configuration and folate dietary intake with the stage of meiotic nondisjunction in mothers of children with maternally derived trisomy 21. Methods: A total of 119 mothers of children with maternally derived free trisomy 21 were included in the study. The mean maternal age at the time of the birth of the child with trisomy 21 was 32.3 ± 6.4 (range 16–43) years. All mothers were Caucasian. Parental origin of trisomy 21 and meiotic stage of nondisjunction was determined using short tandem repeat markers spanning from the centromere to the telomere of chromosome 21q. The MTHFR C677T and A1298C polymorphism was evaluated by PCR-RFLP. Results: Increased frequency of the MTHFR genotype combinations CTAA, CTAC, and TTAA was found in the group of mothers with meiosis I (MI) nondisjunction (p = 0.007). No differences were found between study participants regarding dietary and lifestyles habits. Conclusion: The risk for MI nondisjunction of chromosome 21 was 4.6-fold higher in cases who had CTAA, CTAC, and TTAA MTHFR genotype combinations and who did not used folic acid supplements in the preconception period.
Hum Hered


中文翻译:

亚甲基四氢叶酸还原酶二聚体配置是母体减数分裂 I 衍生的 21 三体的危险因素

背景:有证据表明,亚甲基四氢叶酸还原酶 (MTHFR) 酶的二聚体构型可能因 C677T 和 A1298C 位单体的多态性而不稳定。已经观察到这些多态性可能导致稳定的(CCAA、CCAC、CCCC)和不稳定的(CTAA、CTAC、TTAA)酶二聚体构型。目的:本研究的目的是评估 MTHFR 酶二聚体构型和叶酸膳食摄入量与母源性 21 三体儿童母亲减数分裂不分离阶段的关系。方法:共有 119 名母系衍生的游离 21 三体儿童的母亲被纳入研究。21 三体患儿出生时的平均母亲年龄为 32.3 ± 6.4(范围 16-43)岁。所有的母亲都是白种人。使用从染色体 21q 的着丝粒到端粒的短串联重复标记确定 21 三体的亲本起源和不分离的减数分裂阶段。通过PCR-RFLP 评估MTHFR C677T 和A1298C多态性。结果:在减数分裂 I (MI) 不分离的母亲组中发现MTHFR基因型组合 CTAA、CTAC 和 TTAA的频率增加( p= 0.007)。研究参与者之间在饮食和生活习惯方面没有发现差异。结论:在具有 CTAA、CTAC 和 TTAA MTHFR基因型组合且在孕前未使用叶酸补充剂的情况下,21 号染色体 MI 不分离的风险高 4.6 倍。
赫瑞德
更新日期:2021-03-30
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