The study on correlativity between mental retardation and chromosome fragile site 精神發(fā)育遲滯者與染色體脆性部位相關(guān)性的研究
Objective : to explore the correlatitiy between mental retardation , chromosome aberrtion rate and fragile site expression rate 目的:探討精神發(fā)育遲滯者與染色體畸變率和脆性部位表達(dá)率的相關(guān)性。
Conclusion : the mental retardation is correlative with the chromosome aberration and the fragile site expression rate 結(jié)論:提示精神發(fā)育遲滯與染色體的畸變率和脆性部位的表達(dá)率有一定的相關(guān)性。
Other mutations of the fmr1 gene , s uch a s d eletions a nd p oint m utations a mong p atients w ith usual phenotype but without fragile site expression , are also identified 另外,在少數(shù)患者中還檢測到fmr1基因的其它突變,如基因全部或部分的缺失和發(fā)生在fmr1基因內(nèi)部的點突變。
To detect the patients and carriers of the fragile x syndrome , various analytic methods could be used . one is cytogenetic diagnosis to observe the expression of the fragile site fraxa located at xq27 . 3 對脆x綜合征的診斷,可以通過細(xì)胞遺傳學(xué)方法觀察分析x染色體相應(yīng)脆性位點的表達(dá)情況,或是通過southern印跡雜交的方法直接分析cgg重復(fù)的擴(kuò)增突變。
Methods : using the peripheral blood lymphocyte chromosome preparation technique and fragile site technique , to analyze chromosome aberrtion rate and fragile site expression rate of 30 cases of mental retardation sufferer and 30 cases of normal person respectively 方法:采用外周血淋巴細(xì)胞染色[摘要]目的:探討精神發(fā)育遲滯者與染色體畸變率和脆性部位表達(dá)率的相關(guān)性。
About the control group , the chromosome aberration rate of is 1 . 55 % ; the fragile site expression rate is 0 . 89 % . both the chromosome aberration rate and the fragile site expression rate of two groups are distinct from each other ( p 0 . 01 ) 結(jié)果:精神發(fā)育遲滯者染色體的畸變率為4 . 32 ,脆性部位的表達(dá)率為2 . 18 % ,而正常對照組染色體畸變率為1 . 55 ,脆性部位的表達(dá)率為0 . 89 ,兩者的染色體畸變率和脆性部位表達(dá)率有明顯的差異( p 0 . 01 ) 。
Fxs is characterized by x - linked mental retardation with additional features such as a long face with large protruding ears , macroorchidism , and eye - gaze avoidance etc . fxs is associated with a fragile site , designated fraxa ( fragile site , x chromosome , a site ) , at xq27 . 3 near the end of the long arm 其主要臨床特征為智力低下、特殊的外貌特征(包括長臉、大耳廓、下頜突出、巨頭、腭弓高、大睪丸等) 、行為及認(rèn)知障礙、多動、注意力難集中以及孤獨、自閉等癥狀。