范可尼贫血(FA)是一少见的常染色体隐性遗传性疾病,临床表现复杂多样。现已成功克隆出六种FA基因,其基因型与临床表现有关,FA患者中存在FA基因的突变,FA患者体内FA基因及蛋白以复合体方式,通过一系列生化途径,即“FA分子途径”产生作用。本文围绕以上内容,综述FA的病理学机制在分子生物学领域的研究进展。 Fanconi anemia (FA) is a rare autosomal recessive disease with complex and diverse clinical manifestations. We have successfully cloned six kinds of FA genes, the genotype and clinical manifestations related to the FA patients with FA gene mutations in patients with FA FA genes and proteins in the complex way, through a series of biochemical pathways, namely “FA molecular pathway ”Have an effect. Based on the above contents, this article reviews the research progress of FA pathology in the field of molecular biology.