Genetic screening of Fabry patients with EcoTILLING and HRM technology
2011

Genetic Screening of Fabry Patients Using EcoTILLING and HRM Technology

Sample size: 740 publication Evidence: moderate

Author Information

Author(s): Bono Caterina, Nuzzo Domenico, Albeggiani Giuseppe, Zizzo Carmela, Francofonte Daniele, Iemolo Francesco, Sanzaro Enzo, Duro Giovanni

Primary Institution: National Research Council-Institute of Biomedicine and Molecular Immunology (CNR-IBIM) - Palermo, Italy

Hypothesis

Can EcoTILLING and HRM technology effectively screen for genetic variations in Fabry patients?

Conclusion

HRM analysis is a reliable pre-sequencing screening tool for identifying genetic variations in the GLA gene associated with Fabry disease.

Supporting Evidence

  • The study identified 12 different genetic variations in the GLA gene.
  • HRM detected all mutations found by EcoTILLING and two additional mutations.
  • EcoTILLING showed overlapping results with both endonucleases used.

Takeaway

The study looked at 740 people to find genetic changes related to Fabry disease using two different methods, and found that one method was better at finding mutations.

Methodology

The study used EcoTILLING and HRM to analyze genetic variations in the GLA gene from 740 samples, followed by direct sequencing for confirmation.

Limitations

EcoTILLING has reduced sensitivity for mutations at the ends of target sequences and may miss some polymorphisms.

Participant Demographics

740 subjects with symptoms related to Fabry disease.

Digital Object Identifier (DOI)

10.1186/1756-0500-4-323

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