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...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。展开更多
We analyzed the clinical features and NF1 gene mutation in a Chinese pedigree of neurofibromatosis type 1（NF1）. Three members of this family were NF1 patients presenting with different clinical phenotypes and the ot...We analyzed the clinical features and NF1 gene mutation in a Chinese pedigree of neurofibromatosis type 1（NF1）. Three members of this family were NF1 patients presenting with different clinical phenotypes and the others were asymptomatic. Exons of NF1 were amplified by polymerase chain reaction, sequenced, compared with a reference database. One novel NF1 frame-shift mutation c.703_704delTA, which resulted in a premature stop signal at codon 720 and the synthesis of truncated, was revealed. This mutation segregated with the NF1 members is likely responsible for the pathogenesis of NF1 in the family.展开更多
文摘目的: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。
基金Supported by the National Major Scientific Equipment Program(No.2012YQ12008005)
文摘We analyzed the clinical features and NF1 gene mutation in a Chinese pedigree of neurofibromatosis type 1（NF1）. Three members of this family were NF1 patients presenting with different clinical phenotypes and the others were asymptomatic. Exons of NF1 were amplified by polymerase chain reaction, sequenced, compared with a reference database. One novel NF1 frame-shift mutation c.703_704delTA, which resulted in a premature stop signal at codon 720 and the synthesis of truncated, was revealed. This mutation segregated with the NF1 members is likely responsible for the pathogenesis of NF1 in the family.
