- x染色體易裂癥
- x染色易裂癥
- 脆性x染色體綜合征
- 脆性x染色體綜合癥
- 七、脆性x綜合征
- 染色體綜合征
下載手機詞典可隨時隨地查詞查翻譯
fragile x syndrome中文什么意思
例句與用法
- The screnning and prenatal gene dignosis for fragile x syndrome using pfu dna
綜合征的篩查和產前基因診斷 - Fragile x syndrome ( fxs ) is the most common form of inherited mental retardation after down syndrome . it affects approximately 1 in 4000 males and 1 in 8000 females in the general population
脆性x綜合征( fragilexsyndrome ， fxs )是導致遺傳性智力低下的主要原因之一，發(fā)病率僅次于先天愚型，在男性中的發(fā)病率約為1 / 4000 ，在女性中發(fā)病率約為1 / 8000 。 - 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。 - The absence of the fmr1 gene product , fragile x mental retardation protein ( fmrp ) , is believed to be responsible for the typical physical and mental characteristics of the fragile x syndrome . alleles with between 43 and 200 cgg repeats are called permutation . they are generally unmethylated with normal transcript and protein level , but are extremely unstable during transmission to next generation
帶有前突變( n = 43 200 )的個體其fmr1基因通常不會甲基化，可以正常轉錄和翻譯產生fmrp ，故沒有臨床表型出現(xiàn)，但是，在向下一代傳遞的過程中卻是非常不穩(wěn)定的，會從前突變擴增成為全突變。