CAJ | 학술논문

唐氏综合征(Down’s syndrome,DS)是由于21号染色体的配子减数分裂异常造成的,并且会出现异常的表型,例如,认知损害、学习和记忆能力降低、智力低下、先天性心脏病、早发的阿尔茨海默病以及白血病等.DS个体之间会出现表型的差异,即并不是每个DS患者都会出现所有表型,以及每种表型的严重程度在DS患者之间也是有差异的,这种差异可能与环境、遗传因素有关.因此明确表型和基因的相关性对于致病基因的定位及以后的基因治疗都有着非常重要的意义.现对DS患者以及动物模型的表型和基因相关性研究的进展进行综述.
당씨종합정(Down’s syndrome,DS)시유우21호염색체적배자감수분렬이상조성적,병차회출현이상적표형,례여,인지손해、학습화기억능력강저、지력저하、선천성심장병、조발적아이자해묵병이급백혈병등.DS개체지간회출현표형적차이,즉병불시매개DS환자도회출현소유표형,이급매충표형적엄중정도재DS환자지간야시유차이적,저충차이가능여배경、유전인소유관.인차명학표형화기인적상관성대우치병기인적정위급이후적기인치료도유착비상중요적의의.현대DS환자이급동물모형적표형화기인상관성연구적진전진행종술.
Down' s syndrome results form abnormal meiosis of 21 chromosome and has many kinds of abnormal phenotypes,for example,cognitive impairment,learning disability,mental retardation,congenital heart defect,early onset of Alzeimer' s disease and leukaemia.There are different each phenotypes among Down' s syndrome individuals.That is,not each individual will have all kinds of these abnormal phenotypes,moreover,the severe degree of each phenotype is also various,which may be related to the environment and genetic factors.Therefore,It is important to identify the correlation between genes and phenotyes,which has very important significance for susceptibility gene locating and gene therapy.This article will review the progress in the correlation between genes and phenotypes in patients and animal models with Down' s syndrome.