Tassone Flora
a Department of Biochemistry and Molecular Medicine , University of California, Davis, School of Medicine , Davis , CA 95616 , USA.
b MIND Institute , University of California Davis Medical Center , Sacramento , CA 95817 , USA.
Expert Rev Mol Diagn. 2015;15(11):1465-73. doi: 10.1586/14737159.2015.1101348. Epub 2015 Oct 21.
Fragile X syndrome (FXS), a trinucleotide repeat disorder, is the most common heritable form of cognitive impairment. Since the discovery of the FMR1 gene in 1991, great strides have been made in the field of molecular diagnosis for FXS. Cytogenetic analysis, which was the method of diagnosis in the early 1990, was replaced by Southern blot and PCR analysis albeit with some limitations. In the past few years many PCR-based methodologies, able to amplify large full mutation expanded alleles, with or without methylation, have been proposed. Reviewed here are the advantages, disadvantages and limitations of the most recent developments in the field of FXS diagnosis.
脆性X综合征（FXS）是一种三核苷酸重复疾病，是认知障碍最常见的遗传形式。自1991年发现FMR1基因以来，FXS的分子诊断领域取得了巨大进展。细胞遗传学分析是20世纪90年代初的诊断方法，尽管有一些局限性，但已被Southern印迹法和PCR分析所取代。在过去几年中，已经提出了许多基于PCR的方法，这些方法能够扩增有或没有甲基化的大的全突变扩展等位基因。本文综述了FXS诊断领域最新进展的优点、缺点和局限性。
