Analysis Of SLC17A9 Gene Mutations In Shandong Patients With Disseminated Superficial Actinic Porokeratosis

Background: Porokeratosis(PK)is a kind of keratosic dermatosis which related to autosomal dominant inheritance.And it is also a chronic progressive disease.The disease was firstly reported by Mibelli in 1893.In the clinic,we can usually find five subtypes of porokeratosis,and disseminated superficial actinic porokeratosis(DSAP)is distinguished by the abnormal keratosic lesions which is associated with artificial ultraviolet or/and exposure to sunlight.DSAP was firstly descriped by Chenosky in 1969,and it is generally known that DSAP is the most common type of porokeratosis and often happened to the patients of 30-40 years old.Up to date,six susceptible loci have been determined for PK,12q23.2-24.1(DSAP1),12q24.1-24.2,15q25.1-26.1,1p31.3-p31.1,16q24.1-24.3 and 20q13.33.Moreover,SSH,ART3,MVK,SLC17A9,PMVK,MVD and FDPS genes located in PK have been identified as the causal genes in PK patients.But only MVK gene is identified clearly as the causal gene in DSAP patients.PCR and sequencing of the SLC17A9 gene were carried on this study to confirm the mutations in DSAP patients.Objective: For the familial as well as sporadic DSAP patients,whether SLC17A9 gene mutations were exist in the patients of DSAP in Shandong area.Methods: DNA were extracted from the peripheral blood of the patients and real-time polymerase chain reaction(PCR)assay of SLC17A9 were performed.And then direct sequencing was performed in patients to identify the mutations in the gene.Results: No mutation was found in any of the exons in SLC17A9 gene from the eleven patients.Conclusion: The pathogenesis of the eleven patients with DSAP has nothing to do with the sequence of coding region in SLC17A9 gene.