Oostra B A, Jacky P B, Brown W T, Rousseau F
Department of Cell Biology, Erasmus University, Rotterdam, The Netherlands.
J Med Genet. 1993 May;30(5):410-3. doi: 10.1136/jmg.30.5.410.
Direct DNA analysis of the fragile X mutation has become available with the isolation of DNA probes that detect the unstable DNA sequence containing the CGG repeat. We present the various alternatives of combinations of probes and enzymes that can be used for the diagnosis of fragile X syndrome. An overview is given of all the different available probes. A different protocol is presented for postnatal and prenatal diagnosis of fragile X syndrome. This includes Southern blot analysis as well as direct analysis of the CGG repeat by PCR amplification. We discuss the role of constitutional cytogenetic analysis in the diagnosis of mentally retarded subjects and cytogenetic analysis for the diagnosis of fragile X syndrome.
随着能够检测包含CGG重复序列的不稳定DNA序列的DNA探针的分离，对脆性X突变进行直接DNA分析已成为可能。我们介绍了可用于诊断脆性X综合征的各种探针和酶组合的替代方案。概述了所有不同的可用探针。提出了用于脆性X综合征产后和产前诊断的不同方案。这包括Southern印迹分析以及通过PCR扩增对CGG重复序列进行直接分析。我们讨论了染色体组细胞遗传学分析在智力迟钝受试者诊断中的作用以及用于脆性X综合征诊断的细胞遗传学分析。
