Oostra B A, Chiurazzi P
Department of Clinical Genetics, Erasmus Universitry, Rotterdam, The Netherlands.
Clin Genet. 2001 Dec;60(6):399-408. doi: 10.1034/j.1399-0004.2001.600601.x.
The fragile X syndrome represents the most common inherited cause of mental retardation worldwide. It is caused by a stretch of CGG repeats within the fragile X gene, which increases in length as it is transmitted from generation to generation. Once the repeat exceeds a threshold length, no protein is produced resulting in the fragile X phenotype. Ten years after the discovery of the gene, much has been learned about the function of the fragile X protein. Knowledge has been collected about the mutation mechanism, although still not all players that allow the destabilization of the CGG repeat are known.
脆性X综合征是全球范围内智力迟钝最常见的遗传病因。它由脆性X基因内一段CGG重复序列引起,该重复序列在代代相传过程中长度会增加。一旦重复序列超过阈值长度,就不会产生蛋白质,从而导致脆性X综合征的表型。在该基因被发现十年后,人们对脆性X蛋白的功能已有了很多了解。关于突变机制也已积累了不少知识,尽管尚未知晓所有能使CGG重复序列不稳定的因素。