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. 1999 Jun 8;96(12):6982–6987. doi: 10.1073/pnas.96.12.6982

Figure 4.

Figure 4

Mutation at the ALG6 allele in CDGS patients. (a) Electropherograms of the genomic ALG6 sequence obtained from a control subject, a CDGS type-Ic patient (CDGS-Ic), and a parent of a CDGS type-Ic patient. The region surrounding the 998C/T base transition is shown. (b) Pedigree of CDGS type-Ic family. CDGS patients are indicated in black. The bottom panel shows the bands obtained after HhaI digestion of genomic PCR ALG6 fragments effected on parent (P1–P4) and patient (C1–C4) DNA. The mutant allele remains uncut and runs at 400 bp whereas the wild-type allele is cleaved by HhaI and yields two fragments of 350 bp and 50 bp, but only the larger fragment (350 bp) is visible.