Research On Gene Mutations In Patients With Epidermolysis Bullosa Simplex With Mottled Pigmentation In Ningxia

Objective: To identify the K5and K14gene mutations in a family in Ningxiaaffected with Epidermolysis Bullosa Simplex with mottled pigmentation.Methods: Genomic DNA was extracted from peripheral blood samples obtainedfrom the eleven patients and nine non-affected members from the family and onehundred controls. All the exons of K5and K14gene were detected by polymerasechain reaction (PCR) and direct sequencing.Results: By DNA sequence analysis of eleven patients in the family, a missensemutation K5gene (c.237C>A) was detected. The same mutation was not present inunaffected members from this family nor in100alleles from normal individuals.The exon1(319G>A) was certified a nonsense mutation, but was not innon-affected members from this family and controls. The exon3(1228A>C) andthe exon9(1745A>G) of K5were not found in non-affected members from thisfamily, but this two mutations were present in5controls.Conclusion: Mutation in K5gene (c.237C>A) may be responsible for thedevelopment of disease in this family.