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自1991年应用分子生物学技术分析伴有智力低下的脆性X获得结果以来,该领域研究进展很快。Mandel小组对一些智力低下患者的研究证实了位于脆性X位点的CpG岛的特异甲基化作用。通过对包含一脆性位点区域的人工酵母染色体克隆、类似标记物的分离表明脆性X细胞遗传学和临床表型与甲基化的CpG岛下游的DNA长度的增加有关。与正常基因相比,脆性位点携带者
Research in this area has progressed rapidly since 1991 when molecular biology techniques were used to analyze fragile X acquisitions associated with mental retardation. Mandel’s study of some patients with mental retardation confirmed the specific methylation of CpG islands at the fragile X site. Separation of similar markers by chromosomal cloning of artificial yeast containing a region of a fragile site indicated that fragile X cytogenetics and clinical phenotypes are associated with an increase in DNA length downstream of the methylated CpG islands. Fragile loci carriers compared to normal genes