title: Keratin 14 gene point mutation in the Köbner and Dowling-Meara types of epidermolysis bullosa simplex as detected by the PASA method.
abstract: Recent advances in molecular biology have enabled the association of epidermolysis bullosa simplex (EBS) with point mutations of keratin 14 and/or keratin 5 genes to be established. We describe here the detection of point mutations in genomic DNA from formalin-fixed and paraffin-embedded sections from five cases of epidermolysis bullosa using the PCR amplification of specific alleles (PASA) method. In two of four cases of Köbner-type EBS a point mutation of helix 2b (384 Leu-Pro) was detected and in one case of Dowling-Meara-type EBS a mutation in helix 1a (125 Arg-Cys) was detected. The results of this study are consistent with previous reports and they demonstrate that the PASA method is a rapid and reproducible method for the detection of single-base changes and small deletions.
authors.affiliation: Department of Dermatology, Kurume University School of Medicine, Japan.
authors.forename: H
authors.initials: H
authors.lastname: Hachisuka
authors.forename: M
authors.initials: M
authors.lastname: Morita
authors.forename: T
authors.initials: T
authors.lastname: Karashima
authors.forename: Y
authors.initials: Y
authors.lastname: Sasai
mesh_terms: D000483:Alleles; D000595:Amino Acid Sequence; D001483:Base Sequence; D017931:DNA Primers; D016110:Epidermolysis Bullosa Simplex / Q000145:classification* / Q000235:genetics*; D006801:Humans; D007633:Keratins / Q000737:chemistry / Q000235:genetics*; D008969:Molecular Sequence Data; D017354:Point Mutation; D016133:Polymerase Chain Reaction / Q000379:methods*; D017433:Protein Structure, Secondary; D013698:Templates, Genetic
chemical_list: D017931:DNA Primers; D007633:Keratins