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重症肌无力发病机制尚不清楚,但与乙酰胆碱受体密切相关。随着分子生物学技术的发展,AChR的α、β、γ、δ及ε亚基的cDNA序列已经确定;不同亚基基因突变或使AChR合成减少,或影响AChR对ACh的反应,或使AChR功能障碍。本文从遗传学角度对重症肌无力乙酰胆碱受体各亚基及其基因的研究近况进行综述。
The pathogenesis of myasthenia gravis is not clear, but it is closely related to acetylcholine receptor. With the development of molecular biology techniques, the cDNA sequences of the α, β, γ, δ and ε subunits of AChR have been determined. Mutations of different subunit genes either reduce AChR synthesis or affect the AChR response to ACh, disfunction. This review summarizes the current status of the research on subunits of myasthenia gravis and its genes in genetics.