Department of Developmental Biochemistry, New York State Institute for Basic Research in Developmental Disabilities, Staten Island, NY 10314, USA.
J Mol Diagn. 2013 Jul;15(4):508-17. doi: 10.1016/j.jmoldx.2013.02.006. Epub 2013 May 7.
Fragile X is the most common inherited cause of intellectual disability and is frequently associated with autism. The syndrome is due to mutations of the FMR1 gene that result in the absence of fragile X mental retardation protein (FMRP). We have developed a rapid, highly sensitive method for quantifying FMRP from dried blood spots and lymphocytes. This assay uses two new antibodies, a bacterially expressed abbreviated FMRP standard, and a Luminex platform to quantify FMRP. The assay readily distinguished between samples from males with fragile X full mutations and samples from normal males. It also differentiated mosaic from nonmosaic full-mutation male samples. This assay, because of its methodology and minimal cost, could be the basis for newborn or population screening.
脆性 X 是最常见的遗传性智力障碍病因，常与自闭症相关。该综合征是由于 FMR1 基因突变导致脆性 X 智力低下蛋白（FMRP）缺失所致。我们开发了一种从干血斑和淋巴细胞中定量检测 FMRP 的快速、高灵敏度方法。该检测使用两种新抗体、一种细菌表达的截短 FMRP 标准品和 Luminex 平台定量检测 FMRP。该检测能轻松区分脆性 X 全突变男性和正常男性的样本，还能区分嵌合型和非嵌合型全突变男性样本。由于其方法学和低成本，该检测可以作为新生儿或人群筛查的基础。
