Benign familial chronic pemphigus in a family: a clinical survey and mutation analysis of ATP2C1 gene / 中华皮肤科杂志

Objective To report a Chinese pedigree with benign familial chronic pemphigus (BFCP),and to screen mutations of ATP2C 1 gene in this family.Methods A 39-year-old male patient with BFCP andhis family members underwent a clinical investigation.Blood samples were collected from all the members in this family and from 50 unrelated healthy controls.Genomic DNA was extracted from the blood samples,and PCR was performed to amplify all the 28 exons and flanking sequences of the ATP2C1 gene followed by DNA direct sequencing.The resulted DNA sequences were compared with the reported sequences of APT2C1 gene in Genbank (Number:NM_014382.2 and NC_000003.9).Results There were 24 family members in the four-generation pedigree,with 8 members affected by BFCP.A single-nucleotide substitution,c(1696C→T),in exon 17 of the ATP2C1 gene was identified in all of the members with BFCP,but not in unaffected third-or second-generation members or unrelated healthy controls.This substitution was also found in 1 out of 4 family members of fourth-generation.Conclusions The nonsense mutation c(1696C→T) in the ATP2C1 gene,is likely to be responsible for BFCP in this Chinese four-generation pedigree.The underage family member of fourth-generation who carried the mutation c(1696C→T) but had no clinical symptoms of BFCP,should be closely followed.

Determination of human papillomavirus types in giant condyloma acuminatum / 中华皮肤科杂志

ObjectiveTo determine the genotypes of human papillomavirus(HPV) in patients with giant condyloma acuminatum.MethodsSixty-seven outpatients with giant condyloma acuminatum collected from January 2007 to January 2010 were included in this study.Lesional specimens were obtained from these patients.The genotypes of HPV were determined by flow-through hybridization and gene chip assay.ResultsOf the 67 cases of giant condyloma acuminatum,63 (94.02％) were positive for HPV DNA.Among the HPV DNA-positive specimens,84 (60.87％) harbored low risk types of HPV,54 (39.13％) high risk types of HPV.Type 6 and 11were the predominant low risk HPV types,while type 16 and 18 were the major high risk HPV types.