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目的:检测1例斑驳病并发多发性咖啡斑患者的KIT基因突变情况。方法:收集患者临床资料,提取患者外周血DNA,聚合酶链式反应(PCR)扩增KRT5、KRT14、ABCB6、POFUT1、POGLUT1及KIT基因编码区的全部外显子及其侧翼序列并测序,明确突变位点。结果:Sanger测序发现该例患者KIT基因14号外显子的第2017位碱基发生T→G杂合突变(c.2017T>G),导致其编码第673位氨基酸发生错义突变(p.C673G)。其余上述基因均未发现致病性突变。结论:该例患者最终确诊为KIT基因突变导致的斑驳病,基因检测是确诊临床表现不典型的色素遗传性疾病的重要方法。
Objective: To detect the mutation of KIT gene in 1 case of mottle complicated with multiple coffee spots. Methods: The clinical data of patients were collected and the peripheral blood DNA of patients was extracted. All the exons and their flanking sequences of KRT5, KRT14, ABCB6, POFUT1, POGLUT1 and KIT gene coding region were amplified by PCR and sequenced. Mutation site. Results: Sanger sequencing found that the mutation of T → G at the 2017th base of exon 14 in KIT gene (c.2017T> G) resulted in a missense mutation at amino acid 673 (p.C673G ). No other pathogenic mutations were found in the above genes. Conclusion: This patient is finally diagnosed as mottle caused by KIT gene mutation. Gene test is an important method to diagnose atypical clinical manifestations of pigmented diseases.