[Mutation analysis of keratin 5 and keratin 14 genes in a family with epidermolysis bullosa simplex with mottled pigmentation].

[epidermolysis bullosa simplex]

To identify keratin 5 (K 5 ) and keratin 14 (K 14 ) gene mutations in a family affected with epidermolysis bullosa simplex with mottled pigmentation .G enomic DNA was extracted from peripheral blood samples obtained from eleven patients from the family and controls . All the exons of K 5 and K 14 genes were amplified using polymerase chain reaction (PCR ) and directly sequenced .By DNA sequence analysis , a missense mutation in K 5 gene (c .237 C >T ) was detected . The same mutation was not found in non-affected members from the family and normal controls .Mutation in K 5 gene (c .237 C >T ) may be responsible for the development of disease in this family .