Figure 4
Molecular analysis of the
PDSS1 gene.
Sequence analysis of PDSS1 gene in patient 1 (A), parents (B), and controls (C). (D) MnlI restriction analysis of the T→G mutation at nt 977. MnlI restriction generated 2 fragments of 393 and 180 bp in controls and 3 fragments of 352, 180, and 41 bp in the patient. P, patient; C, controls; MW, molecular weight marker (DNA molecular weight marker VIII; Roche Applied Science). (E) Sequence alignment of the prenyldiphosphate synthase, FPP synthase, and GPP synthase from human and nonhuman sources. The box shows the polyprenyl synthase signature.
