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fragile x mental retardation中文是什么意思

  • 脆性x智力低下
  • 脆性x综合征

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  • 例句与用法
  • 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。
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