ABSTRACT
<p><b>OBJECTIVE</b>To investigate the mutations of ATP2C1 gene in Chinese patients with Hailey-Hailey disease (HHD).</p><p><b>METHODS</b>Genomic DNA was extracted from peripheral blood leukocytes. PCR and direct DNA sequencing were used to detect the mutations in all 27 exons of ATP2C1 gene in patients of two Chinese families and a sporadic patient with HHD.</p><p><b>RESULTS</b>Three mutations in ATP2C1 gene were found, including 1 nonsense mutation, 1 deletion/frameshift mutation and 1 missense mutation. All of them were novel mutations.</p><p><b>CONCLUSION</b>All the three mutations could affect the transcription and translation, and further the function of protein encoded by ATP2C1 gene.</p>
Subject(s)
Adult , Female , Humans , Male , Middle Aged , Asian People , Genetics , Base Sequence , Calcium-Transporting ATPases , Genetics , Case-Control Studies , Codon, Nonsense , DNA Mutational Analysis , Exons , Genetics , Mutation , Mutation, Missense , Pedigree , Pemphigus, Benign Familial , Genetics , Sequence Alignment , Sequence DeletionABSTRACT
<p><b>OBJECTIVE</b>To investigate the changes in cell proliferation and retinoic acid receptor gamma (RARgamma) mRNA expression in normal human keratinocytes after acitretin treatment and/or narrow-band ultraviolet-B irradiation.</p><p><b>METHODS</b>Normal human keratinocytes were exposed to irradiation with 100 mJ/cm square NB-UVB and/or subsequent 12-hour incubation with 1x10(-6) mol/L acitretin, and the expression of RARgamma mRNA in the cells was examined using RT-PCR and real-time quantitative RT-PCR.</p><p><b>RESULTS</b>A 0.9- and a 2.3-fold increase in RARgamma mRNA expression was induced in the cells by exposure to 100 mJ/cm square NB-UVB and 10(-6) mol/L acitretin, respectively, and the expression was synergistically enhanced by 2.8-fold after their combined treatment.</p><p><b>CONCLUSION</b>Upregulated expression of RARgamma mRNA can be associated with keratinocyte growth inhibition after treatment with acitretin and NB-UVB irradiation.</p>