- 脆性x智力低下
- 脆性x综合征
- fragile: adj. 1.脆的，易碎的。 2.脆弱的，虚弱的。 短语 ...
- x: vt. (x-ed, x'd x-ing, x'ing) ...
- mental retardation: 智力缺陷，精神薄弱，智力迟钝。
- fragile x-associated mental retardation: 脆性x连锁智力低下
- x-linked mental retardation: x连锁智力障碍
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fragile x mental retardation中文什么意思
- 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。