Figure 4.

Family 3 with Exon 6 Deletion

(A) Pedigree (black fill indicates clinically affected individual, II-5).

(B) Top: Schematic representation of the 4,078 bp deletion that encompasses exon 6 of CA5A. Bottom: Sanger sequencing of PCR products generated from genomic DNA of the index (II-5) with a 21 bp repeated sequence (gray) at the breakpoint found in both intron 5 (green) and intron 6 (blue).

(C) Immunoblot analyses of control subject (WT) and index (II-5) liver homogenates. Samples were probed for CA-VA,²⁵ cytochrome c (Cyto-c), carbonic anhydrase XIV (CA 14),²⁶ and carbonic anhydrase II (CA 2)²⁷ via specific antibodies.