Abstract: 【Abstract】 Objective To detect susceptibility genes for toxic epidermal necrolysis （TEN） caused by carbamazepine in a patient. Methods Clinical data and peripheral blood samples were collected from a patient with carbamazepine-induced TEN. DNA was extracted from the peripheral blood sample, fluorescence in situ hybridization was performed to detect susceptibility gene loci for carbamazepine-induced TEN, including HLA-A*31:01（rs1633021）, HLA-B*58:01（rs3095318）, HLA-B*15:02（rs3909184）and HLA-B*15:02 （rs2844682）. Results The 40-year-old female patient of Han nationality presented with perioral erythema andblisters for 7 days, which had spread all over the body for 4 days. The patient had been treated with carbamazepine for 1 month before the occurrence of skin lesions. Genetic testing showed that the patient was negative for HLA-B*15:02 allele, but positive for HLA-A*31:01 allele. Conclusion The Chinese patient of Han nationality with carbamazepine-induced TEN was positive for HLA-A*31:01 allele.

Key words: Carbamazepine, Epidermal necrolysis, toxic, HLA antigens, Genetic predisposition to disease, HLA-A*31:01 allele gene