基因检测确诊表现为多发性咖啡斑的1型神经纤维瘤病2例

发布时间：2018-03-16 17:30

本文选题：型神经纤维瘤病　切入点：NF基因　出处：《中国皮肤性病学杂志》2016年04期 　论文类型：期刊论文

【摘要】：目的对2例表现为多发性牛奶咖啡斑的散发患儿进行神经纤维瘤病致病基因检测,早期确定其诊断。方法提取患儿及其父母外周血DNA,采用PCR扩增先证者NF1基因所有外显子及其侧翼序列并测序,并以200例无关正常人作为对照。结果 2例散发患儿除多发性咖啡斑以外均无神经纤维瘤病的其他表现。我们在患者1和患者2基因组DNA中发现NF1基因分别发生c.4600CT杂合无义突变(p.R1534X)以及c.7348CT杂合无义突变(p.R2450X)。这两个突变位点既往均未见报道。2例患儿的父母及200例健康正常人均未检测到相应突变位点。结论 2例多发性咖啡斑患儿经基因诊断均确诊为1型神经纤维瘤病,NF1基因的p.R1534X及p.R2450X突变分别为其致病突变。基因诊断是早期确诊神经纤维瘤病的有效方法。
[Abstract]:Objective to detect the pathogenic genes of neurofibromatosis in 2 sporadic children with multiple milk coffee spots. Methods the peripheral blood DNA of the children and their parents was extracted. All exons and their flanking sequences of the proband NF1 gene were amplified by PCR and sequenced. Results there were no neurofibromatosis in 2 sporadic children except multiple coffee spots. We found that NF1 gene was found in patients 1 and 2 genomic DNA, respectively. C. 4600CT heterozygous mutation p. R1534X) and c. 7348CT heterozygous mutation p. R2450X.Conclusion No corresponding mutation sites were detected in the parents of 2 children and 200 healthy controls. Conclusion there are 2 cases of polycoffee spot. The mutation of p. R1534X and p. R2450X in the NF1 gene of neurofibromatosis type 1 were confirmed by gene diagnosis, respectively. Gene diagnosis is an effective method for early diagnosis of neurofibromatosis.
【作者单位】：内蒙古民族大学附属医院皮肤科;内蒙古民族大学蒙医药学院;
【分类号】：R725.9;R440

【相似文献】