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1型神经纤维瘤病(NF1)又称为VonRecklinghausen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。
Neurofibromatosis type 1 (NF1), also known as Von Recklinghausen’s disease, is an autosomal dominant genetic disorder that results from multiple systems damage resulting from abnormal differentiation of neural crest cells at a prevalence of 1 / 3000-1 / 3500, Its pathogenesis is related to the deletion of NF1 gene. In recent years, great progress has been made in the research of genetics and genetics of NF. The gene sequences, mutations and expression information of the gene have been obtained through gene linkage and “site-directed cloning” technology. In recent years, NF1 gene and genetics research results, NF1 gene structure and function, NF1 gene abnormal expression, the relationship between the genotype and the performance of the gene mutation prone areas.