Figure 1. Pedigree and mutation analysis of family CCMC0112

A: Pedigree CCMC0112 is shown. B: DNA sequencing of individual CCMC0112-II:1 shows a C>A transition, which results in a substitution of arginine to serine. C: Restriction enzyme of CCMC0112, SacII digest, demonstrates the mutant allele (36 bp and 371 bp) and the wild type allele (36 bp, 102 bp, and 269 bp) in all affected individuals and only the wild type allele in the two spouses and in one unrelated unaffected person (N). Uncut PCR product (407 bp) is shown together with a 100 bp ladder (M).