A quantitative-PCR protocol rapidly detects 伪GAL deletions/duplications in patients with Anderson-Fabry disease

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• 作者：Nicola Marziliano^a ; ^b ; ^{Nicola.marziliano@ospedaleniguarda.it} ; ^{Nicola.marziliano@unimol.it} ; Nadia Sapere^a ; Francesco Orsini^b ; Valentina Motta^b ; Silvio Veronese^b ; Marcello Gambacorta^b ; Piera Angelica Merlini^c ; Mariano Intrieri^a
• 关键词：Anderson&ndash ; Fabry disease ; MLPA ; Galactosidase A ; Quantitative-PCR
• 刊名：Molecular Genetics and Metabolism
• 出版年：2012
• 期刊代码：175_10967192
• 类别：bio
• 出版时间：April, 2012
• 卷：105
• 期：4
• 页码：687-689
• 文件大小：270 K

摘要

The Anderson-Fabry disease (AFD) is an X-linked glycosphingolipidosis leading to a progressive systemic disease. A particular variant of the disease of AFD presents only with left ventricular hypertrophy (LVH). Molecular diagnosis with bidirectional sequencing fails to detect genomic re-arrangements in female patients because of the presence of the wt allele. We here propose a quantitative PCR-based method alternative/complementary to the MLPA.