三例散发Ⅰ型神经纤维瘤病患者NF1基因突变检测

Mutation analysis in three cases with sporadic neurofibromatosis type 1

目的:对三例散发I型神经纤维瘤病(neurofibromatosis type 1,NF1)患者进行NFl基因检测。方法:提取3例患者及5名正常家系成员和100例无NF1家族史的正常人外周血DNA。PCR扩增NF1基因全部外显子及侧翼序列,经纯化后采用Sanger测序法对目标基因区域进行测序。结果:患者1,患者2和患者3分别检测到39号外显子发生碱基G缺失(c.5635 delG),47号外显子大片段碱基缺失(c.7041～7062+4del),21号外显子发生碱基A、C缺失(c.2714-2715delAC)。患者家属及100例正常对照均未检测到上述突变。结论:本研究在3例NFl患者中发现NFl基因3种新突变。

Objective:To detect the mutations of NF1 gene in three sporadic patients with neurofibromatosis type 1(NF1).Methods:DNA was extracted from peripheral blood of three cases and 5 family members and 100 unrelated healthy controls.NF1 gene was amplified by polymerase chain reaction(PCR).After purification,the PCR products were sequenced by sanger sequencing.Results:Three mutations of c.5635 delG in exon 39,c.7041~7062+4del in exon 47 and c.2714-2715delAC in exon 21 in NF1 gene were identified in the three patients respectively.These mutations were not found in other family members and the 100 healthy controls.Conclusion:Three novel mutations in NF1 gene were found in this study.