脆性X智力障碍1基因（fragileXmentalretardation1gene，FMR1）编码一个选择性RNA结合蛋白，称脆性X智力低下蛋白(fragileXmentalretardationprotein，FMRP)。该蛋白表达减少或缺失可导致一种常见的遗传性智力缺陷疾病，称脆性X综合征（fragileXsyndrome，FXS）。FMR1基因的可变剪接与FMRP蛋白表达关系密切。不同的剪接方式会产生不同的转录本，最后导致FMRP蛋白的结构和功能发生改变，且相应的信号通路也受到影响。但对不同剪接异构体的检测及其生理功能仍研究较少。我们在先前的研究中采用克隆-测序技术，从RNA途径分析人F...Fragile X mental retardation 1 gene (FMR1) encodes a selective messenger RNA-binding protein, which is called fragile X mental retardation protein (FMRP). Its absence can cause to a common form of inherited intellectual disability, known as fragile X syndrome (FXS). The alternative splicing of FMR1 gene has a close relationship with FMRP expression. Different ways of splicing will produce differen...学位：医学硕士院系专业：医学院_临床检验诊断学学号：2452014115352
