现已知脆性X综合征在FMR-1基因中,导致CGG重复序列的扩增。在携带者和患者中,这种CGG重复序列的长度改变较正常人有显著增加,其位置距患者过甲基化的CpG岛250hp。该甲基化可能导致FMR-1基因表达的下调。从已知的FMR-1蛋白序列还不能推断出有关功能方面的信息。 作者运用多克隆抗体对FMR-1基因编码的蛋白质的特性和功能进行了分析。实验表明对照和嵌 Fragile X syndrome is now known in the FMR-1 gene, resulting in the amplification of CGG repeats. In carriers and patients, the CGG repeat length change was significantly greater than in normal subjects and was 250 hp from the patient’s over-methylated CpG island. This methylation may result in the down-regulation of FMR-1 gene expression. No functional information can be deduced from the known FMR-1 protein sequence. The authors used polyclonal antibodies to characterize and characterize the proteins encoded by the FMR-1 gene. Experiments show that control and embedded