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Peutz-Jeghers综合征(PJS)是一常染色体显性遗传病,已证实LKB1突变与该病的发生有关。此文对LKB1基因的结构功能、PJS分子机制、遗传突变、相关的蛋白表达及药物干预性治疗等国内外研究成果进行综述。
Peutz-Jeghers syndrome (PJS) is an autosomal dominant genetic disease, LKB1 mutation has been confirmed with the occurrence of the disease. This article reviews the research results of LKB1 structural function, PJS molecular mechanism, genetic mutation, related protein expression and drug intervention therapy.