摘要
目的对2例无家族史、主要表现为多发咖啡斑、怀疑为Ⅰ型神经纤维瘤病的患儿进行NF1基因突变检测。方法抽取2例患儿及其表型正常父母的血液样本，同时采集正常对照血样100份，应用PCR技术对NF1基因全部编码区进行扩增，并进行直接测序。结果直接测序结果显示例1NF1基因第12外显子存在1个新的c．1948delT（p．Leu650TyrfsX38）移码突变；例2NF1基因第4b外显子存在1个已报道的c．541C〉T（p．Glnl81X）无义突变。二者的父母检测均为阴性，在100份正常对照也未发现上述突变。结论应用基因突变检测确诊2例散发的Ⅰ型神经纤维瘤病例。NF1基因突变分别为C．1948delT和C．541C〉T。
Objective To report on two children manifesting multiple caf6-au-lait spots suspected as neurofibromatosis type 1, and perform NF1 gene mutation analysis. Methods Blood samples were collected from the 2 children, their unaffected parents and 100 normal controls. The entire coding region of the NF1 gene was amplified by PCR and subjected to direct sequencing. Results In patient 1, a novel frameshift mutation c. 1948delT （p. Leu650TyrfsX38） was identified in exon 12 of the NF1 gene. And in patient 2, a previously reported nonsense mutation c. 541C〉 T （p. Gln181X） was revealed in exon 4b. The same mutations were not detected in their unaffected parents or 100 normal controls. Conclusion The two patients were diagnosed with neurofibromatosis type 1 by molecular genetic testing. The pathogenic mutations were c. 1948delT and c. 541C〉T, respectively.
出处
《中华医学遗传学杂志》
CAS
CSCD
北大核心
2016年第2期200-202,共3页
Chinese Journal of Medical Genetics
基金
上海市自然科学基金（12ZR1420000）
志谢感谢所有研究对象的参与和配合
