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目的:检测Ⅰ型神经纤维瘤病患者的NF1基因突变。方法:提取Ⅰ型神经纤维瘤病1家系、1例散发患者及200名正常对照外周血DNA,PCR扩增NF1基因全部外显子及侧翼序列并进行Sanger测序。结果:在家系的先证者及其母亲外周血DNA中检测到NF1基因c.3975-2 A>T突变,其他家系成员未发现突变位点;在散发病例中检测到c.3619delA突变,为国际上首次报道。结论:Ⅰ型神经纤维瘤病具有遗传基因异质性。
Objective: To detect NF1 gene mutation in patients with type Ⅰ neurofibromatosis. Methods: 1 type 1 neurofibromatosis was extracted from peripheral blood of patients with one type of neurofibromatosis, one case of sporadic patients and 200 normal controls. All exons and flanking sequences of NF1 gene were amplified by PCR and sequenced. Results: The c.3975-2 A> T mutation of NF1 gene was detected in the peripheral blood DNA of the probands and their mothers in the pedigrees, and no mutation was found in other pedigree members. The c.3619delA mutation was detected in sporadic cases International first reported. Conclusion: Type Ⅰ neurofibromatosis has genetic heterogeneity.