Rett综合征 (RTT)是一种严重影响儿童精神运动发育的神经遗传病。目前提出的遗传方式主要包括 X连锁显性遗传 ,代谢干扰学说及线粒体受累学说。目前进行的 X染色体排除作图 ,基因型分析及多点连锁分析将家族性 RTT基因定位于 Xq2 8。在散发性及家族性 RTT均检查到 X连锁甲基 Cp G结合蛋白 2基因存在突变。动物模型的建立将会加深对其病理生理机制的认识 Rett syndrome (RTT) is a neurodegenerative disease that severely affects the mental development of children. The current proposed genetic methods include X-linked dominant inheritance, metabolic interference theory and mitochondrial involvement theory. The current X chromosome exclusion mapping, genotyping and multi-point linkage analysis locate the familial RTT gene at Xq28. Mutations in the X-linked methyl CpG binding protein 2 gene were detected in both sporadic and familial RTTs. The establishment of animal models will deepen their understanding of the pathophysiological mechanisms