CAJ | 학술논문

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。
목적：검측I형신경섬유류병환자적NF1기인돌변。방법：제취I형신경섬유류병1가계、1례산발환자급200명정상대조외주혈DNA，PCR확증NF1기인전부외현자급측익서렬병진행Sanger측서。결과：재가계적선증자급기모친외주혈DNA중검측도NF1기인c.3975-2 A>T돌변，기타가계성원미발현돌변위점；재산발병례중검측도c.3619delA돌변，위국제상수차보도。결론： I형신경섬유류병구유유전기인이질성。
Objective:To determine NF1 gene mutations in one family and one sporadic case with neurofi-bromatosis type I. Methods:All exons and flanking sequences of the NF1 gene of patients and controls were amplified by PCR and DNA sequencing was followed. Results:A heterozygous splicing mutation ( c.3975-2A>T) of NF1 gene in the proband and the mother of the proband of the family was identified. A heterozygous frameshift mutation ( c.3619delA) was identified in the sporadic patients with neurofibromatosis type I,which was the first report up to now. Conclusion:There exists a genetic heterogeneity in neurofibromatosis type I.