The Gene Detection And Analysis In KRT1 And KRT9-exonl Of A Diffuse Palmoplantar Keratoderma Family

ObjectiveThrough detecting and analysising the gene mutation in a diffuse palmoplantar keratoderma family, to identify the type of this family and to find the gene causing of this family, to provid advices about inbreed of members and give prenatal disgnosises to patients.MethodsHistopathology assessment was performed to analyze the epidermis in the palm of the probands. Genomic DNA of 16 family individuals and 30 collators without disease and blood relationship was used for amplification of 9 exons of keratin 1 (KRT1) and exon 1 of keratin 9(KRT9). The amplificatins were determined by direct sequencing.ResultEpidermal abnormalitie in the palm of the proband was characterized by thickening of the living epidermis and stratum corneum, but we can't find the vacuolar changes of suprabasal keratinocytes and make sure that the type of disease in this family is diffuse nonepidermolytic palmoplantar keratoderma. Direct sequencing of polymerase chain reaction products revealed that the mutation was not found in the 16 individuals of family and 30 collators.ConclusionKRT1 and exon 1 of KRT9 was not the causing of this diffuse palmoplantar keratoderma family.