The study on correlativity between mental retardation and chromosome fragile site 精神發育遲滯者與染色體脆性部位相關性的研究
Objective : to explore the correlatitiy between mental retardation , chromosome aberrtion rate and fragile site expression rate 目的:探討精神發育遲滯者與染色體畸變率和脆性部位表達率的相關性。
Conclusion : the mental retardation is correlative with the chromosome aberration and the fragile site expression rate 結論:提示精神發育遲滯與染色體的畸變率和脆性部位的表達率有一定的相關性。
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生在fmr1基因內部的點突變。
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,可以通過細胞遺傳學方法觀察分析x染色體相應脆性位點的表達情況,或是通過southern印跡雜交的方法直接分析cgg重復的擴增突變。