Development of Chinese genetic reference panel for Fragile X Syndrome and its application to the screen of 10,000 Chinese pregnant women and women planning pregnancy
Development of Chinese genetic reference panel for Fragile X Syndrome and its application to the screen of 10,000 Chinese pregnant women and women planning pregnancy
复制标题
中国脆性X综合征基因参考组合的研制及其在万名中国孕妇和计划怀孕妇女筛查中的应用
DOI：
10.1002/mgg3.1236
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发表时间：
2020-04-12
影响因子：
2
通讯作者：
Duan, Ranhui
中科院分区：
文献类型：
--
作者：
Gao, Fei;Huang, Wen;Duan, Ranhui
脆性X综合征（FXS）是由FMR 1基因5 '端非翻译区CGG重复扩增引起的最常见的遗传性智力残疾。当重复序列的数量超过200时，基因变得高度甲基化并在转录上沉默，导致FXS。由于其不稳定性或表型结果而被研究的基因的其他等位基因形式包括中间等位基因（45-54个CGG重复）和前突变等位基因（55-200个重复）。正常等位基因被分类为具有
Background Fragile X syndrome (FXS) is the most common inherited form of intellectual disability caused by a CGG repeat expansion in the 5 ' untranslated region of the FMR1 gene. When the number of repeats exceeds 200, the gene becomes hypermethylated and is transcriptionally silenced, resulting in FXS. Other allelic forms of the gene that are studied because of their instability or phenotypic consequence include intermediate alleles (45-54 CGG repeats) and premutation alleles (55-200 repeats). Normal alleles are classified as having