Genetic screening of Fabry patients with EcoTILLING and HRM technology
- Equal contributors
1 National Research Council-Institute of Biomedicine and Molecular Immunology (CNR-IBIM) - Palermo, Italy
2 Department of Neurology - Guzzardi Hospital - Vittoria (Ragusa), Italy
BMC Research Notes 2011, 4:323 doi:10.1186/1756-0500-4-323Published: 6 September 2011
Anderson-Fabry disease (FD) is caused by a deficit of the α-galactosidase A enzyme which leads to the accumulation of complex sphingolipids, especially globotriaosylceramide (Gb3), in all the cells of the body, causing the onset of a multi-systemic disease with poor prognosis in adulthood. In this article, we describe two alternative methods for screening the GLA gene which codes for the α-galactosidase A enzyme in subjects with probable FD in order to test analysis strategies which include or rely on initial pre-screening.
We analyzed 740 samples using EcoTILLING, comparing two mismatch-specific
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