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A Second Common Mutation in the Methylenetetrahydrofolate Reductase Gene: An Additional Risk Factor for Neural-Tube Defects?  Nathalie M.J. van der Put,

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Presentation on theme: "A Second Common Mutation in the Methylenetetrahydrofolate Reductase Gene: An Additional Risk Factor for Neural-Tube Defects?  Nathalie M.J. van der Put,"— Presentation transcript:

1 A Second Common Mutation in the Methylenetetrahydrofolate Reductase Gene: An Additional Risk Factor for Neural-Tube Defects?  Nathalie M.J. van der Put, Fons Gabreëls, Erik M.B. Stevens, Jan A.M. Smeitink, Frans J.M. Trijbels, Tom K.A.B. Eskes, Lambert P. van den Heuvel, Henk J. Blom  The American Journal of Human Genetics  Volume 62, Issue 5, Pages (May 1998) DOI: /301825 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

2 Figure 1 RFLP analysis for the 1298(A→C) mutation on a 163-bp PCR fragment with MboII. The 1298(A→C) mutation abolishes an MboII restriction site. Digestion of the 163-bp fragment of the 1298AA genotype gives five fragments, of 56, 31, 30, 28, and 18 bp, whereas the 1298CC genotype results in four fragments, of, namely, 84, 31, 30, and 18 bp. The figure depicts the three possible genotypes. The 18-bp fragment has been run off the gel. The American Journal of Human Genetics  , DOI: ( /301825) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

3 Figure 2 Specific MTHFR activities in the different observed genotype combinations for the 677(C→T) and 1298(A→C) mutations in this gene. The American Journal of Human Genetics  , DOI: ( /301825) Copyright © 1998 The American Society of Human Genetics Terms and Conditions


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