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. 1999 Oct 15;65(5):1308–1320. doi: 10.1086/302623

Figure 2.

Figure 2

Identification of the Glu499Lys mutation in exon 15 of βMHC. A, Partial sequence of the coding strand of exon 15 of βMHC in an individual heterozygous for the Glu499Lys mutation, showing the g→a transition, which results in the amino acid substitution of Lys for Glu at codon 499. B, Genotyping the Glu499Lys mutation by ASREA. Products of MnlI digestion of the 243-bp PCR-amplified product of exon 15 were separated on a 12% polyacrylamide gel. Internal MnlI sites generated 87-, 73-, 37-, 16-, and 15-bp fragments in unaffected individuals (lane 2). Loss of one of these sites in an HCM-affected heterozygous individual resulted in an additional, undigested 102-bp fragment (lane 1). Lane 3, Lambda PstI molecular-size marker. The 16- and 15-bp fragments were not resolved on this gel.