fragile x mental retardation meaning in Chinese
脆性x智力低下
脆性x综合征
Examples
- Fxs is mainly caused by a kind of dynamic mutation , the expansion of a cgg repeat located in the 5 ' - untranslated region ( 5 ' - utr ) of the fmr1 ( fragile x mental retardation ) gene
该综合症由患者细胞中可见xq27 . 3的脆性位点fraxa而得名。绝大多数脆性x综合征患者的发病是由于fmr1基因5端非翻译区的三核苷酸cgg重复的不稳定扩增所致。 - 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
带有前突变( n = 43 200 )的个体其fmr1基因通常不会甲基化，可以正常转录和翻译产生fmrp ，故没有临床表型出现，但是，在向下一代传递的过程中却是非常不稳定的，会从前突变扩增成为全突变。