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目的检测郴州市一个Ⅰ型神经纤维瘤家族NF1基因的18～19外显子区段是否发生突变。方法应用PCR技术扩增NF1基因18～19外显子区段,并对PCR产物进行测序。结果该家系的IV1患者的18外显子的一对碱基发生置换(错义突变),II2患者的18～19外显子之间的内含子一对碱基发生置换,但家系中另两名患者和正常成员18～19外显子区段序列均正常。结论 NF1具多突变性。两处碱基置换可能与II2和IV1患神经纤维瘤发生有关,但不是该家族引起神经纤维瘤的共享突变位点。
Objective To detect the mutation of exon 18 ~ 19 in NF1 gene of a type Ⅰ neurofibroma in Chenzhou City. Methods The 18-19 exon of NF1 gene was amplified by PCR and the PCR products were sequenced. Results A single base pair exon 18 substitution (missense mutation) occurred in IV1 patients of this pedigree. A pair of intron pair substitution occurred between exons 18 to 19 of II2 patients. However, Both patients and normal members 18-19 exon sequences were normal. Conclusion NF1 has multiple mutations. Two base substitutions may be associated with the occurrence of neurofibromas in II2 and IV1, but not in the family as shared mutations in neurofibromas.