Fig. 3.
Fig. 3. Restriction enzyme analysis of exon 52 PCR products from affected members of families 1 and 2. / ScaI-restricted PCR products of patients F1-P1, F1-P2, F1-P3, F1-P4 (lanes 2 to 5) and a healthy person (lane 6). Lanes 8 and 9 contain the SacI-digested PCR products from 2 affected members of family 2 (F2-P1-and F2-P2). Lanes 1 and 10 contain unrestricted PCR products from F1-P1 and F2-P2. Amino acid substitutions of the 2 mutations in exon 52 create a newScaI and SacI restriction site, respectively, and the 399-bp PCR product is restricted to 225-bp and 174-bp fragments. All the patients show the 225-bp and 174-bp fragments in addition to a 399-bp PCR product, whereas the 2 normal samples show only the unrestricted 399-bp PCR product. Lane 7 contains the plasmid pBR322 digested with EcoRI and AvaII as a molecular-weight marker.

Restriction enzyme analysis of exon 52 PCR products from affected members of families 1 and 2.

ScaI-restricted PCR products of patients F1-P1, F1-P2, F1-P3, F1-P4 (lanes 2 to 5) and a healthy person (lane 6). Lanes 8 and 9 contain the SacI-digested PCR products from 2 affected members of family 2 (F2-P1-and F2-P2). Lanes 1 and 10 contain unrestricted PCR products from F1-P1 and F2-P2. Amino acid substitutions of the 2 mutations in exon 52 create a newScaI and SacI restriction site, respectively, and the 399-bp PCR product is restricted to 225-bp and 174-bp fragments. All the patients show the 225-bp and 174-bp fragments in addition to a 399-bp PCR product, whereas the 2 normal samples show only the unrestricted 399-bp PCR product. Lane 7 contains the plasmid pBR322 digested with EcoRI and AvaII as a molecular-weight marker.

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