ABSTRACT
<p><b>OBJECTIVE</b>To study a Chinese pedigree with Hailey-Hailey disease (HHD) and examine the ATP2C1 gene mutation in this family.</p><p><b>METHOD</b>All exons of ATP2C1 gene were analyzed with polymerase chain reaction and DNA sequencing in all patients of this family and 100 unrelated population-match controls.</p><p><b>RESULTS</b>We identified a novel heterozygous nucleotide A --> G transition at position 235 - 2 in intron 3 of ATP2C1 gene. This splice site mutation was not found in the healthy members of this pedigree and in the controls.</p><p><b>CONCLUSION</b>The splicing mutation can affect the result of transcription and translation, and it is a specific novel mutation of ATP2C1 gene.</p>
Subject(s)
Humans , Asian People , Calcium-Transporting ATPases , Genetics , Mutation , Pedigree , Pemphigus, Benign Familial , GeneticsABSTRACT
<p><b>BACKGROUND</b>The study was designed to investigate the status of molecular epidemiology of HCMV in Urumqi through genetic comparison of clinical isolates.</p><p><b>METHODS</b>DNA sequences of 2.0-2.6 kb were amplified by polymerase chain reaction from three relatively conservative gene regions (DNA polymerase, glycoproteins H, and major immediate-early antigen) of 28 clinical HCMV strains and then were analysed by restriction enzymes.</p><p><b>RESULTS</b>The restriction patterns of the clinical isolates which did not have relation in epidemiology were greatly different, but the patterns of the clinical isolates related in epidemiology such as strains paired in mother and infant were quite similar. Of eight mother and infant pairs, from whom HCMV were isolated, four pairs showed identity of restriction profiles within each pair for all three amplified regions, four pairs showed differences between mother and infant.</p><p><b>CONCLUSION</b>These results confirm the high degree of genetic variability among cytomegalovirus strains in Urumqi. Analysis of PCR-RFLP can indicate transmission of HCMV infection and facilitate its molecular epidemiologic studies.</p>