Glucose-6-phosphate dehydrogenase deficiency in northern Mexico and description of a novel mutation

• Published in: Journal of genetics Vol. 93; no. 2; pp. 325 - 330
• Main Authors: 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., ARÁMBULA-MERAZ, E.
• Format: Journal Article
• Language: English
• Published: India Springer India 01.08.2014; Springer; Springer Nature B.V
• Subjects: Analysis; Animal Genetics and Genomics; Biochemistry; Biomedical and Life Sciences; Dextrose; DNA Mutational Analysis; DNA sequencing; Enzymes; Evolutionary Biology; Genetic aspects; Genetic Association Studies; Genetic Predisposition to Disease; Glucose; Glucosephosphate Dehydrogenase - chemistry; Glucosephosphate Dehydrogenase - genetics; Glucosephosphate Dehydrogenase Deficiency - epidemiology; Glucosephosphate Dehydrogenase Deficiency - genetics; Haplotypes; Humans; Life Sciences; Male; Mexico - epidemiology; Microbial Genetics and Genomics; Models, Molecular; Mutation; Mutation, Missense; Nucleotide sequencing; Phosphates; Plant Genetics and Genomics; Polymorphism, Restriction Fragment Length; Protein Structure, Tertiary; Research Article; Mexico; northwest Mexico; haplotypes; variants; G6PD-deficiency
• ISSN: 0022-1333; 0973-7731
• DOI: 10.1007/s12041-014-0366-z

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 −202 A /376 G , G6PD A −376 G /968 C and G6PD Santamaria 376 G /542 T . 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 DF 193 A > G (rs199474830), which probably results in a damaging functional effect, according to PolyPhen analysis. Proteomic impact of the mutation is also described.