CAJ | 학술논문

1型神经纤维瘤病(NF1)又称为Von Recklinghausen病,为起源于神经嵴细胞分化异常而导致多系统损害的一种常染色体显性遗传病,患病率为1/3000～1/3500,其发病与NF1基因的缺失有关.近年来对NF遗传和基因学的研究取得了很大进展,通过基因连锁和"定点克隆"技术获得了该病基因序列、突变及其表达信息.对近年在NF1基因和遗传学方面的研究成果、NF1基因的结构和功能、NF1基因的异常表达、该病基因型和表现性的关系、基因的易突变区域等进行综述.
1형신경섬유류병(NF1)우칭위Von Recklinghausen병,위기원우신경척세포분화이상이도치다계통손해적일충상염색체현성유전병,환병솔위1/3000～1/3500,기발병여NF1기인적결실유관.근년래대NF유전화기인학적연구취득료흔대진전,통과기인련쇄화"정점극륭"기술획득료해병기인서렬、돌변급기표체신식.대근년재NF1기인화유전학방면적연구성과、NF1기인적결구화공능、NF1기인적이상표체、해병기인형화표현성적관계、기인적역돌변구역등진행종술.
Neurofibromatosis type 1 is a term of Von Recklinghausenan.It is an autosomal dominant inherited disease which derived by neural crest cell.Prevalence of this disease is 1/3000 1/3500 and is a disease with the highest mutation rate.The pathogenesis of neurofibromatosis type 1 is associated with the deficiency of NF1 gene.Recently,the genetics and genomics research of neurofibromatosis make a great progress.With the development of gene linkage and position cloning technology,the gene sequence of neurofibromatosis type 1 has been found.Recent research of genetics and genomics of NF1 and the structure and function,abnormal expression,the relation of genotype and phenotype,the mutation sensitivity domain of NF1 gene were reviewed.