Abstract
Glucose-6-phosphate dehydrogenase deficiency (G6PD) is the most common enzyme pathology in humans; it is X-linked inherited and causes neonatal hyperbilirubinaemia, chronic nonspherocytic haemolytic anaemia and drug-induced acute haemolytic anaemia. G6PD deficiency has scarcely been studied in the northern region of Mexico, which is important because of the genetic heterogeneity described in Mexican population. Therefore, samples from the northern Mexico were biochemically screened for G6PD-deficiency, and PCR-RFLPs, and DNA sequencing used to identify mutations in positive samples. The frequency of G6PD deficiency in the population was 0.95% (n = 1993); the mutations in 86% of these samples were G6PD A−202A/376G, G6PD A−376G/968C and G6PD Santamaria376G/542T. Contrary to previous reports, we demonstrated that G6PD deficiency distribution is relatively homogenous throughout the country (P = 0.48336), and the unique exception with high frequency of G6PD deficiency does not involve a coastal population (Chihuahua: 2.4%). Analysis of eight polymorphic sites showed only 10 haplotypes. In one individual we identified a new G6PD mutation named Mexico DF193A>G (rs199474830), which probably results in a damaging functional effect, according to PolyPhen analysis. Proteomic impact of the mutation is also described.
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Acknowledgements
This work was supported by PROFAPI (grant 123) and COECYT approved to E. A-M. We thank the QFB’s Aurelio Hernández, Sandra Ochoa, Aaron Dávila, Nurse Rosario García and Dr José Guillermo Romero for providing blood samples.
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García-Magallanes N., Luque-Ortega F., Aguilar-Medina E. M., Ramos-Payán R., Galaviz-Hernández C., Romero-Quintana J. G., Del Pozo-Yauner L., Rangel-Villalobos H. and Arámbula-Meraz E. 2014 Glucose-6-phosphate dehydrogenase deficiency in northern Mexico and description of a novel mutation. J. Genet. 93, xx–xx
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GARCÍA-MAGALLANES, N., LUQUE-ORTEGA, F., AGUILAR-MEDINA, E.M. et al. Glucose-6-phosphate dehydrogenase deficiency in northern Mexico and description of a novel mutation. J Genet 93, 325–330 (2014). https://doi.org/10.1007/s12041-014-0366-z
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DOI: https://doi.org/10.1007/s12041-014-0366-z