Fig. 1.
Identification of Met680Ile (2040 G>C) mutation.
(A) A 391-bp PCR fragment was digested with NlaIII. The normal allele is cut to 320-, 46-, and 25-bp fragments, whereas the mutation (which leads to a loss of a NlaIII site) results in 366- and 25-bp fragments. (B) This was confirmed by automated sequencing.