1型神经纤维瘤病的基因学研究进展

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。

The advanced genomics research of neurofibromatosis type 1

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.