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題名 | Reduced Folic Acid Intake and Absence of MTHFR Polymorphism in Egyptian Mothers of Children with Down Syndrome=埃及罹患唐氏症孩童的母親葉酸攝取不足和無MTHFR基因多形性 |
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作者姓名(外文) | Abdel-Meguid,Nagwa; Wahba,Soad Ishak; Dardir,Ahmed Abdel-mohsen; El Ghar,Hanna Mohamed Abou; El-Said,Ola Hossny; Rakha,Amal Mohamed; El Awady,Mostafa Kamel; | 書刊名 | Journal of Medical Sciences |
卷期 | 24:1 2004.02[民93.02] |
頁次 | 頁27-32 |
分類號 | 417.509 |
關鍵詞 | 無MTHFR基因多形性; 唐氏症; 葉酸; Down syndrome; MTHFR; Polymorphism; |
語文 | 英文(English) |
英文摘要 | Background: The incidence of Down syndrome in Egypt is 1/750 live births. Recent reports linking Down syndrome (DS) to maternal polymorphisms at the methylenetetrahydrofolate reductase (MTHFR) gene locus have generated great interest. It was suggested that 677C T polymorphism in MTHFR gene may predispose to aberrant DNA methylation and increased risk of meiotic nondisjunction and that abnormal folate and methyl metabolism are associated with the risk of Down syndrome. Methods: The present study included 30 mothers with their affected outcomes and 30 control mothers. The aim of this work is to investigate the frequency of C677T MTHFR gene polymorphism in mothers with DS children as a risk factor for nondisjunction. All mothers were subjected to complete medical and nutritional history with special emphasis on folate intake through food or oral supplementation, estimation of blood homocysteine level, and study of MTHFR gene mutation at site 677 by PCR amplification and Hinf1 enzyme digestion. Results: The results of detailed nutritional history indicated that folic acid intake from food and from vitamin supplements was significantly lower (below the Recommended Daily Allowance) in the group of mothers with DS children compared to control mothers (P< 0.01) using Student T-test. Blood homocysteine was normal in both control and DS mothers. MTHFR analysis showed absence of polymorphism at 677 site in both mothers with DS children and control mothers. These results suggest that reduced folate intake, without polymorphisms in the folate pathway, may be sufficient to increase the risk of having a child with DS. Conclusions: Our results are emphasizing that MTHFR C677T mutation, unlike earlier studies, is not a remarkable genetic polymorphism among Egyptian females with or without DS children. Therefore, other gene loci in MTHFR gene as well as other genes encoding folate biosynthetic pathway enzymes should be studied. Sufficient folate intake and supplementation is an important preventive strategy in overcoming the risk of nondisjunction. Homocysteine was not found to be a sensitive biomarker for folate deficiency in young mothers with DS children. |
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