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. Author manuscript; available in PMC: 2007 Nov 6.
Published in final edited form as: Mol Genet Metab. 2007 Jan 25;90(4):383–392. doi: 10.1016/j.ymgme.2006.12.003

Figure 4.

Figure 4

Genomic analysis of the GBE1 locus and affected cat mutation. Panel A shows a Southern blot of normal (lanes 1 and 3) and affected cat DNA (lanes 2 and 4) digested with Hind III (lanes 1 and 2) or Eco RI (lanes 3 and 4) hybridized to a GBE1 cDNA probe of exons 11–14 (upper) and thereafter to a probe of only exon 12 (lower). Migration of λ Hind III fragments is indicated on the right. Exons 11–14 of feline GBE1 cDNA have no Eco RI or Hind III recognition sites. Panel B shows PCR products amplified from genomic templates of a normal (lanes 1 and 2) and a GSD IV affected cat (lane 3). The products were variously amplified with primers in exons 11 and 12 (lane 1), in exon 12 and at a site in intron 12 that is 613 bp 5’ of exon 13 (lane 2), and in exon 11 and the same intron 12 site as in lane 2 (lane 3). Migration of λ Hind III/Eco RI double-digest fragments is indicated on the right. Panel C is a schematic indicating the normal cat exon-intron arrangement deduced from the size of products in panel B, sequencing the products in lanes 1 and 3 of panel B, and sequencing a genomic clone containing part of intron 12 through part of intron 14. The dashed portion of intron 12 was not sequenced. Exons (e11–e13) and Eco RI (R) and Hind III (H) sites are indicated. Sequence of the affected cat product in lane 3 of panel B revealed a deletion (dotted line) of ~ 6.2 kb, as indicated at the bottom.