关键词: Job综合征, STAT3, 基因, 突变

Abstract: XUE Li *, ZHANG Min, YANG Yuan, WANG Sheng. *Department of Dermatology, West China Hospital, Sichuan University, Chengdu 610041, China Corresponding author: WANG Sheng, Email: wangsheng1892@sina.com 【Abstract】 Objective To analyze mutations of the STAT3 gene in a patient with hyper-IgE syndrome （HIES）． Methods Clinical data were collected and blood samples were obtained from a 14-year-old patient with hyper-IgE syndrome （HIES） and her parents. Genomic DNA was extracted and subjected to PCR for the amplification of the entire encoding and splice sites of the STAT3 gene followed by bidirectional sequencing. Meanwhile, amplified ribosomal DNA restriction analysis was carried out. Results A heterozygous missense mutation A1843G, which caused a K615E substitution, was found in exon 19 encoding the SH2 domain of the STAT3 gene in the patient, but not in either of her parents. The result of amplified ribosomal DNA restriction analysis was consistent with the findings mentioned above. Conclusion The novel K615E missense mutation in the STAT3 gene may contribute to the development of HIES． 【Key words】 Job′s syndrome; STAT3; Genes; Mutation

Key words: STAT3