遗传性无纤维蛋白原血症是一种由于纤维蛋白原基因缺陷所致的常染色体隐性遗传性疾病。引起该病的突变皆为纯合突变或复合杂合突变,其中FGA基因IVS4+1G>T剪接突变为其突变热点。但无论何种突变都可引起纤维蛋白原基因的异常表达,从而造成血浆中纤维蛋白原缺如,最终导致无纤维蛋白原血症的临床表现。本文对近年来该病分子机制的研究进展作一综述。 Hereditary fibrinogen is an autosomal recessive disease caused by defects in the fibrinogen gene. The mutations that cause the disease are homozygous mutation or compound heterozygous mutation, in which FGS gene IVS4 + 1G> T splicing mutation hot spot. But no matter what kind of mutations can cause the abnormal expression of fibrinogen gene, resulting in lack of plasma fibrinogen, eventually leading to the clinical manifestations of fibrinogen. This article reviews the recent advances in the molecular mechanism of the disease.