【摘要】 Ⅱ型神经纤维瘤病(neurofibromatosisⅡ,NF2)是一种由NF2基因突变引起的常染色体显性遗传性疾病,基因定位于22q12.2,其突变类型多但无明确的突变热点,蛋白产物Merlin具有肿瘤抑制功能。近年来,关于NF2基因和遗传学的研究取得了较大进展,本文就NF2基因、Merlin蛋白及基因型和表现型的关系等研究进展作一综述。更多还原

【Abstract】 Neurofibromatosis type 2 (NF2) is an autosomal dominant disease caused by mutation of NF2 gene, which islocated at chromosome 22q12.2. A wide variety of NF2 mutations had been found in patients with NF2. But no frequentlyrecurring mutation had been identified. The NF2 protein, which is called Merlin, plays an important role in tumorsuppression. In recent years, research of NF2 gene and genetics has been rapidly developed. Advances involving NF2gene, Merlin and genotype- phenotype correlations were reviewed in this article. Supported by Key Project of the NationalNatural Science Foundation of China (30330580) and Shanghai Leading Academic Discipline Project (Y02030).更多还原