高IgE综合征患者STAT3基因突变研究  

Mutation analysis of the STAT3 gene in a patient with hyper-IgE syndrome

作　　者：李仲桃 汪盛[1] 王曦[1] 

机构地区：[1]四川大学华西医院皮肤性病科,成都610041

出　　处：《中华皮肤科杂志》2015年第10期735-737,共3页Chinese Journal of Dermatology

摘　　要：目的探讨1例以全身多发冷脓肿为主要表现的高IgE综合征患者STAT3基因突变。方法收集患者及其父母的临床资料及外周血，提取基因组DNA，PCR扩增STAT3基因外显子与剪切位点序列。通过DNA测序查找基因突变。结果发现患者STAT3基因第16号外显子存在一个错义突变1427C→T，导致密码子由TCC变为TTC，致使位于STAT3蛋白DNA连接区第476位氨基酸从丝氨酸（S）变为苯丙氨酸（F）（p．S476F）。患者父母均未发现此突变。酶切分析的结果与上述发现一致。结论STAT3基因S476F突变为新型错义突变，该例高IgE综合征患者以全身广泛冷脓肿为突出表现。Objective To analyze mutations of the STAT3 gene in a patient with hyper-IgE syndrome （HIES） mainly manifesting as multiple cold abscesses. Methods Clinical data were collected and blood samples were obtained from a 17-year-old male patient with HIES and his parents. Genomic DNA was extracted and subjected to PCR for the amplification of the entire coding region and splice sites of the STAT3 gene followed by bidirectional sequencing. Results A heterozygous missense mutation C1427T,which caused a codon change fi＇om TCC to TTC and resulted in the substitution of serine by phenylalanine at amino acid residue 476 （p. S476F）, was found in exon 16 encoding the DNA- binding domain in the STAT3 gene in the patient, but not in either of his parents. The results of amplified ribosomal DNA restriction analysis were consistent with the findings mentioned above. Conclusion A novel missense mutation S426F was found in the STAT3 gene in the HIES patient with generalized cold abscesses as the prominent clinical manifestation.

关 键 词：Job综合征 脓肿 STAT3转录因子 突变 

分 类 号：R593.2[医药卫生—内科学]