Baskaran S, Naseerullah M K, Manjunatha K R, Chetan G K, Arthi R, Rao G V, Girimaji S R, Srinath S, Sheshadri S, Devi R R, Brahmachari V
Department of Molecular Reproduction, National Institute of Mental Health & Neuro Sciences, Bangalore.
Indian J Med Res. 1998 Jan;107:29-36.
Mental retardation due to fragile X syndrome is one of the genetic disorders caused by triplet repeat expansion. CGG repeat involved in this disease is known to exhibit polymorphism even among normal individuals. Here we describe the development of suitable probes for detection of polymorphism in CGG repeat at FMR1 locus as well as the diagnosis of fragile X syndrome. Using these methods polymorphism at the FMR1 locus has been examined in 161 individuals. Ninety eight patients with unclassified mental retardation were examined, of whom 7 were found to have the expanded (CGG) allele at the FMR1 locus. The hybridization pattern for two patients has been presented as representative data.
脆性X综合征所致智力迟钝是由三联体重复扩增引起的遗传性疾病之一。已知参与该疾病的CGG重复即使在正常个体中也表现出多态性。在此，我们描述了用于检测FMR1基因座CGG重复多态性以及诊断脆性X综合征的合适探针的开发。使用这些方法，对161名个体的FMR1基因座多态性进行了检测。对98名未分类智力迟钝患者进行了检测，其中7名在FMR1基因座发现有扩增的（CGG）等位基因。已给出两名患者的杂交模式作为代表性数据。
