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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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 1044-1051 (May 1998) DOI: 10.1086/301825 Copyright © 1998 The American Society of Human Genetics Terms and Conditions

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 1998 62, 1044-1051DOI: (10.1086/301825) Copyright © 1998 The American Society of Human Genetics Terms and Conditions

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 1998 62, 1044-1051DOI: (10.1086/301825) Copyright © 1998 The American Society of Human Genetics Terms and Conditions