Detection of c. ? 32T>G (IVS1 ? 13T>G) mutation of Pompe disease by real-time PCR in dried blood spot specimen

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• 作者：Joaquin Bobillo Lobato^a ; Blas A. Sá ; nchez Peral^b ; Pilar Durá ; n Parejo^a ; Luis M. Jimé ; nez Jimé ; nez^a ; ^{lmjimenezj@telefonica.net}
• 关键词：GAA ; acid alpha-glucosidase ; PCR ; polymerase chain reaction ; DBS ; dried blood spots ; GSDII ; glycogen storage disease type II
• 刊名：Clinica Chimica Acta
• 出版年：2013
• 出版时间：15 March, 2013
• 年：2013
• 卷：418
• 期：Complete
• 页码：107-108
• 全文大小：204 K

文摘

Background

Pompe disease, or acid maltase deficiency, is a genetic muscle disorder caused by mutations in the gene encoding the acid alpha-glucosidase (GAA) enzyme, which is essential for the degradation of glycogen to glucose in lysosomes. The wide clinical variability is resulted from genetic heterogeneity, and many different mutations of the GAA gene have been reported. Some of these mutations are associated with specific phenotypes, such as the c. ? 32T>G (IVS1 ? 13T>G) mutation seen in late-onset Pompe disease.

Methods

We used a real-time PCR, after genomic DNA extraction isolated from DBS (dried blood spots) and PCR amplification.

Results

Our results successfully detected in controls and patients have been 100 % concordant with sequencing results.

Conclusions

This assay combines simple sample processing and rapid analysis and it allows to detect the patients with a milder form and slower progression of this disease with a high reliability.