Fig. 2.
Detection of the 5279A/G mutation (FV Y1702C).
(A) Detection by direct sequencing: The heterozygous sequencing pattern of the propositus is shown. The “R” in the nucleotide sequence indicates that either an A or a G may be present at this position. (B) Detection by restriction analysis: Mutagenized (bold) primer P1, which creates an AccI restriction site (highlighted in gray) in the normal (A, underlined) allele, is used in combination with reverse primer P2 to amplify a 120-bp DNA fragment. The fragments obtained byAccI digestion of the polymerase chain reaction products are visualized by agarose gel electrophoresis. C43, individual from the general population; M, molecular weight marker.
