换一批
换一批摘要脆性X智力低下1基因(fragile X mental retardation l gene,FMRI)是脆性X综合征的致病基因,其产物脆性X智力低下蛋白(fragile X mental retardation protein,FMRP)与大脑神经元的发育密切相关.自FMR1基因被鉴定以来,以PCR和Southern印迹杂交为主的分子诊断方法已成为脆性X综合征实验室诊断的主流技术.本文就脆性X综合征分子诊断方法的最新研究进展作一综述.
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abstractsFragile X mental retardation 1 is the gene underlying fragile X syndrome (FXS).Its product,fragile X mental retardation protein,is closely involved with development of brain and neurons.PCR and Southern blotting have been the major methods for laboratory diagnosis of FXS.In this article,the progress in the molecular diagnosis of FXS is reviewed.
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