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Fig. 2 | Molecular Medicine

Fig. 2

From: Detection of Novel LAMC2 Mutations in Herlitz Junctional Epidermolysis Bullosa

Fig. 2

Demonstration of the paternal mutation in LAMC2 in the proband with H-JEB in Family 1

(A) Conformation sensitive gel electrophoresis (CSGE) of DNA spanning exon 8 and flanking intronic sequences demonstrates heteroduplex bands (He) with the father’s (F) and the proband’s (P) DNA, while the mother (M) shows a homoduplex band (Ho) only. (B) Direct automated sequencing of the proband’s PCR product reveals a heterozygous deletion of T at nucleotide position 1154 (upper panel) when compared with the normal sequence (lower panel). (C) The mutation results in the loss of a restriction enzyme site for MnlI, which cuts the normal allele to 141 and 114 bp bands, whereas the mutant allele remains 255 bp in size (MW, molecular weight marker ϕX174 digested with HaeIII).

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