From the Department of Pharmacology and Toxicology, Faculty of Pharmacy, King AbdulAziz University, Jeddah, Saudi Arabia.
From the Department of Pharmacology, Faculty of Medicine, Dalhousie University, Halifax, Nova Scotia.
Ann Saudi Med. 2021 Jan-Feb;41(1):1-7. doi: 10.5144/0256-4947.2021.1. Epub 2021 Feb 4.
Methylenetetrahydrofolate reductase, the encoded by the gene, plays a crucial role in converting the amino acid homocysteine to methionine. Two polymorphisms of the gene, C677T and A1298C, reportedly reduce enzyme activity, resulting in hyperhomocysteinemia. Patients with C677T and A1298C polymorphisms may be at higher risk for developing abnormal hyperhomocysteinemia, which has been linked to catastrophic neurological including fatal outcomes.
Determine the prevalence of the gene variants C677T and A1298C among pediatric dental patients treated at King Abdulaziz University Hospital.
Cross-sectional.
Clinics of pediatric dentistry department.
Healthy Saudi children 6-12 years old with no known allergies were screened for eligibility between May and December 2019. A single investigator collected saliva samples. The C677T and A1298C polymorphisms were analyzed using polymerase chain reaction and restriction fragment length polymorphism.
The prevalence of gene variants (C677T and A1298C) among the subjects.
C677T polymorphism was present in 36.2% of the sample and 90.0% of children carrying this allele were heterozygotes. A1298C polymorphism was present in 91.3% of the sample and 77.0% of the children carrying this allele were heterozygotes. No linkage disequilibrium between C677T and A1298C was observed within this sample.
Our study found a high frequency of the A1298C genotype, which was substantially more abundant than expected based on a Hardy-Weinberg distribution. Therefore, caution is advised in using NO in Saudi children as the increased prevalence of this allele may increase the incidence of serious adverse effects among these children.
Further studies are recommended with a larger sample size from randomly selected hospitals from different regions of Saudi Arabia.
None.
亚甲基四氢叶酸还原酶由 基因编码，在将氨基酸同型半胱氨酸转化为蛋氨酸方面发挥着关键作用。该基因的两个多态性，即 C677T 和 A1298C，据报道会降低酶的活性，导致高同型半胱氨酸血症。携带 C677T 和 A1298C 多态性的患者可能面临更高的发展异常高同型半胱氨酸血症的风险，而这种情况与灾难性的神经疾病有关，包括致命的后果。
确定在阿卜杜勒阿齐兹国王大学医院接受治疗的儿科牙科患者中 基因变体 C677T 和 A1298C 的流行率。
横断面研究。
儿科牙科系诊所。
2019 年 5 月至 12 月期间，筛选了无已知过敏史的健康沙特儿童（6-12 岁），以确定其是否符合入选标准。一名单独的调查员采集了唾液样本。使用聚合酶链反应和限制性片段长度多态性分析了 C677T 和 A1298C 多态性。
受试者中 基因变异（C677T 和 A1298C）的流行率。
138。
C677T 多态性存在于 36.2%的样本中，携带该等位基因的儿童中有 90.0%为杂合子。A1298C 多态性存在于 91.3%的样本中，携带该等位基因的儿童中有 77.0%为杂合子。在该样本中未观察到 C677T 和 A1298C 之间的连锁不平衡。
我们的研究发现 A1298C 基因型的频率很高，与基于哈迪-温伯格分布的预期相比，其丰度明显更高。因此，在沙特儿童中使用 NO 时应谨慎，因为这种 等位基因的高流行率可能会增加这些儿童发生严重不良反应的几率。
建议进一步研究，从沙特阿拉伯不同地区的随机选择的医院中抽取更大的样本量。
无。
