Figure 2. Sequence analysis in genomic DNA and cDNA of the female members.

Genomic DNA sequencing showed a heterozygous pattern of the A-to-G-transition in II5, II3, I 1 and III2 (A1, B1, D1 and E1), but not in II7 (C1). cDNA sequencing showed solely or mainly the mutant allele to be expressed in II5 and II3 (A2 and B2), while solely or mainly the wild-type allele to be expressed in III2 and I 1 (E2 and D2). The position of codon is underlined and the arrow indicates the mutated base.