CAJ | 학술논문

常染色体上一些基因与神经系统的发育和功能密切相关,突变后可导致非特异性精神发育迟滞.文章从基因定位、表达、生物学功能与突变后致病机理等方面,对常染色体非特异性精神发育迟滞相关基因的研究现状进行了综述,并展望了今后这一领域的研究前景.
상염색체상일사기인여신경계통적발육화공능밀절상관,돌변후가도치비특이성정신발육지체.문장종기인정위、표체、생물학공능여돌변후치병궤리등방면,대상염색체비특이성정신발육지체상관기인적연구현상진행료종술,병전망료금후저일영역적연구전경.
Some autosomal genes are associated with development and function of nervous system.Mutations of these genes can lead to nonsyndromic mental retardation.This paper reviews recent progresses on autosomal recessive nonsyndromic mental retardation related genes,including localization,expression,biological function and pathogenesis after mutations.The prospect in this field is also discussed.