Figure 5. A single-strand, conformation, polymorphism analysis and a 16% denaturing polyacrylamide gel electrophorese analysis. A: Single strand conformation polymorphism (SSCP) analysis for the heterozygous mutation c. 1876C>T revealed that the mutant pattern (four bands) co-segregated with the affected individuals and carriers, but not with the unaffected individuals and normal controls (three bands). B: SSCP analysis for c.7123delG showed that the mutant pattern (three bands) co-segregated with the affected individuals and carriers, but not with the unaffected individuals and normal controls (two bands). C: 16% denaturing polyacrylamide gel electrophorese analysis for the heterozygous mutation c.9472_9498delTGATGAG (p. D3165fs) revealed that the mutant pattern (two bands) co-segregated with the affected individuals, but not with the unaffected individuals and normal controls (one band). Participant identification numbers are listed above each lane and N represents the normal controls.