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Figure 2 | Orphanet Journal of Rare Diseases

Figure 2

From: Molecular Genetic Analysis of the PLP1 Gene in 38 Families with PLP1-related disorders: Identification and Functional Characterization of 11 Novel PLP1 Mutations

Figure 2

Mutation c.436C>G (p.Leu146Val). a) RT-PCR performed with the minigene-specific 31GF/LACT2R primers (Additional file 1, Table S1b) on cDNA transfected into Oli-neu cells. Whereas the expected PLP1 and DM20 products were present in cells transfected with the wild-type construct (WT), only the DM20 product was present in cells transfected with the patient mutant construct (Pt). No product was present in untransfected cells (U) or in the negative control lacking DNA (B). ΦX174 DNA Hae III digest used as a marker (M). b) Real-time PCR quantification using [DM20]- [PLP]- and [DM20+PLP]-specific amplicons confirmed the altered ratio of DM20/(DM20+PLP) (blue bars) and PLP/(DM20+PLP) (red bars) in the patient carrying the mutation Leu146Val as compared to the healthy control.

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