Abstract:

Duan Yan, Zeng Kang, Liang Yanhua, Zhang Qiguo, Zhao Xiaoyan Department of Dermatology, Inner Mongolia People′s Hospital, Hohhot 010010, China （Duan Y）; Department of Dermatology, Nanfang Hospital, Southern Medical University, Guangzhou 510515, China （Zeng K, Liang YH）; Department of Dermatology, First Affiliated Hospital of Xiamen University, Xiamen 361003, China （Zhang QG, Zhao XY） Corresponding author: Liang Yanhua, Email: liangdoctor @163.com 【Abstract】 Objective To explore the role of type Ⅶ collagen （COL7A1） gene in the pathogenesis of pretibial dominant dystrophic epidermolysis bullosa （DDEB-Pt）. Methods Peripheral blood samples were obtained from a sporadic Chinese patient of Han nationality with DDEB-Pt, his parents and 100 healthy human controls. A modified salting-out method was used to extract genomic DNA from the blood samples, and PCR was performed to amplify 118 exons of the COL7A1 gene followed by DNA sequencing. Results A G→A mutation was identified at position 6109 （G6109A） in exon 78 of the COL7A1 gene in this patient, which caused a change from GCT to ACT at codon 2037 in the triple helix region, and resulted in the substitution of glycine （Gly） by arginine （Arg） （p.Gly2037Arg）. Conclusion A novel glycine substitution mutation was identified in the COL7A1 gene in the patient with DDEB-Pt, which may be a pathogenic mutation.