脆性X综合征的快速抗体检测
Rapid antibody test for fragile X syndrome.
作者信息
Willemsen R, Mohkamsing S, de Vries B, Devys D, van den Ouweland A, Mandel J L, Galjaard H, Oostra B
机构信息
Department of Clinical Genetics, Erasmus University, Rotterdam, Netherlands.
出版信息
Lancet. 1995 May 6;345(8958):1147-8. doi: 10.1016/s0140-6736(95)90979-6.
Fragile X syndrome is the most common known cause of inherited mental retardation. Identification of patients and carriers of fragile X syndrome is usually done with a DNA test system but we have developed a rapid antibody to identify fragile X patients. This non-invasive test requires only 1 or 2 drops of blood and can be used for screening large groups of mentally retarded people and neonates for fragile X syndrome.
脆性X综合征是已知遗传性智力迟钝最常见的病因。脆性X综合征患者及携带者的识别通常采用DNA检测系统，但我们已研发出一种快速抗体来识别脆性X综合征患者。这种非侵入性检测仅需1至2滴血，可用于对大量智障人群及新生儿进行脆性X综合征筛查。
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