Subtle adjustments of the glucose-6-phosphate dehydrogenase (G6PD) mutation database and reference sequence.
Résumé
Reference sequences and mutation databases are essential for the development of molecular-based methods in human genetics. Lately, Minucci et al. [1] revised the glucose-6-phosphate dehydrogenase (G6PD) reference material from 131 bibliographic references, three previous databases, and the genomic reference sequence (GenBank accession number X55448.1). Deficiency in G6PD is the most common enzymatic insufficiency in human populations and clinical manifestations range from mild to severe: neonatal jaundice, acute hemolysis and chronic non-spherocytic hemolytic anemia prompted by infections or sudden onset of oxidative agents from for instance the ingestion of fava beans (Vicia faba) or anti-malarial treatments [2]. Given the clinical consequences, numerous studies and international projects are being carried out about the mechanisms leading to the numerous G6PD enzymatic variants, and in this context, the updated G6PD database provided in [1] is a precious substratum for lab protocols. Nonetheless, while setting our strategy from this material, we encountered two main hurdles that we would like to address.
Origine : Fichiers produits par l'(les) auteur(s)
Loading...