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. 2011 Dec 12;6(12):e28582. doi: 10.1371/journal.pone.0028582

Figure 2. Molecular genetic analysis of K12 for the MECD families.

Figure 2

(A) Sequence excerpt from K12 exon 1 derived from a normal person. (B) A novel heterozygous transition mutation was found in the proband: c.395T>C in exon 1 of the KRT12 gene predicting a leucine to proline amino acid substitution at codon 132 (designated p.Leu132Pro, or for brevity, Leu132Pro). (C) The mutation destroys a recognition site for the restriction enzyme Mse I site, which allowed rapid exclusion of this sequence change from 50 normal, unrelated and ethnically matched control individuals by Mse I digestion of KRT12 exon 1 PCR fragments. Nor = unaffected members of Family I; Aff = affected persons from Family 1. White arrowhead = filamentous keratin; blue arrowhead = keratin aggregates.