前突变 meaning in English
premutation
Examples
- Therefore in order to detect the carriers in the population and fxs patients with full mutation exactly , it will be very helpful to study the variable distribution of cgg repeats of fmr1 in chinese
准确掌握中国人群中该重复序列的变异分体情况,有助于进一步对脆性x综合征进行前突变和全突变的诊断及对群体中携带者的检出提供有意义的依据。 - 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。