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. Author manuscript; available in PMC: 2014 Apr 15.
Published in final edited form as: J Dermatol Sci. 2009 Jan 20;53(3):192–197. doi: 10.1016/j.jdermsci.2008.11.005

Figure 3. Identification of mutations in the DSG1 gene.

Figure 3

(A) Heterozygous mutation p.R26X in exon 2 of the DSG1 gene in Family 1. (B) Heterozygous mutation c.Ivs4-2A>G in intron 4 of the DSG1 gene in Family 2. (C) Screening assays for the mutation c.Ivs4-2A>G. PCR products from the mutant allele, 274 bp in size, were digested into 200 bp and 74 bp fragments by the restriction enzyme HpaII. The 74 bp fragments are not shown. (D) Heterozygous mutation c.515C>T in exon 5 of the DSG1 gene in Family 3. (E) Screening assays for the mutation c.515C>T. Mismatch PCR products from the wild type allele, 203 bp in size, were digested into 166 bp and 37 bp fragments by the restriction enzyme BsmI. The 37 bp fragments are not shown. (F) Heterozygous mutation c.Ivs9-3C>G in intron 9 of the DSG1 gene in Family 4. (G) Screening assays for the mutation c.Ivs9-3C>G. PCR products from the mutant allele, 231 bp in size, were digested into 117 bp and 114 bp fragments by the restriction enzyme MnlI. (H) Heterozygous mutation c.1399delA in exon 10 of the DSG1 gene in Family 5. (I) Screening assays for the mutation c.1399delA. PCR products from the mutant allele, 397 bp in size, were digested into 259 bp and 138 bp fragments by the restriction enzyme DdeI. In (C), (E), (G), and (I), affected individuals are colored in red. MWM, molecular weight markers.