Figure 3.

Family 2 with Exon 4 Splice Deletion

(A) Pedigree (black fill indicates clinically affected individual).

(B) Sanger sequencing of RT-PCR products generated in (B) with exons denoted by colors. Top: The CA5A structure (not to scale) and a schematic of the observed CA5A transcripts produced in a control subject and the index. Bottom: Sanger sequence of transcripts at exon 4 boundary in a control subject (+/+) and the index (−/−), along with WT CA5A cDNA sequence, color-coded as in the top panel.

(C) RT-PCR of CA5A mRNA from white blood cells (WBCs) or cultured liver cells (HepG2). Arrows indicate the products of differing size amplified from control subject (WT sequence) and index (II-1) WBCs. As controls, reverse transcriptase was omitted from the reaction (no RT) and a control gene (β-actin) was amplified in separate lane on a different cell type (denoted by the line).