基因内含子突变与视网膜色素变性的研究进展

以往,人们认为内含子中的随机突变对生物不会产生严重的影响.但近些年来,随着人们对内含子和基因序列功能研究的不断深入,发现在mRNA剪切过程中,如内含子中分支点或内含子与外显子拼接处发生碱基的改变,往往会造成剪切点改变,从而导致编码的蛋白质功能异常.本文对内含子的功能,以及发生在内含子的基因突变与视网膜色素变性的相关分子遗传学研究概况做一综述.

Progress in the research of mutation of genetic intron and retinitis pigmentosa

People used to think that random mutations in intron had no significant effect on organism. But now, with the deep research of functions of intron and genetic sequence, we find that the base alteration taken place in intmn may cause the splice site change and produce dysfunction codogenic protein. The article reviews the researches of gene mutation in intron and the studies on the molecular genetics of retinitis pigmentosa.