Glucose-6-phosphate dehydrogenase (G-6-PD) mutations in Mexico: four new G-6-PD variants

Glucose-6-phosphate dehydrogenase mutations in Mon and Burmese of southern Myanmar

“…G6PD Valladolid (406C [ T) has been previously identified in Spaniards Zarza et al 1997) and Mexicans (Vaca et al 2003). This mutation occurs in exon 5 and is predicted to code for cysteine at residue 135 instead of arginine and has reduced G6PD activity (0.64 IU/g Hb).…”

Glucose-6-Phosphate Dehydrogenase: Update and Analysis of New Mutations around the World

“…Taking account these new variants included in this review, the number of reported G6PD mutations is 217, being as follows: 182 (83.9%) are single nucleotide substitutions (missense variants), 19 (8.7%) are multiple mutations (two or more substitutions), 11 (5.1%) are deletions, and five (2.3%) mutations affect the introns. Interestingly, we found 16 mutations corresponding to single nucleotide substitutions (missense variants) that were previously reported before in Minucchi’s review [34] and that were not considered as the G6PD Class I mutants: Zacatecas (Arg257Leu; exon 7) [37], Palermo (Arg257Met, exon 7) [38], Hamburg (Pro276Leu, exon 8) [39], Veracruz (Arg365His, exon 10) [37], Yucatan (Lys429Glu, exon 10) [37], Tennessee (Leu422Val, exon 10) [40], and one deletion named G6PD Taif (174Gly, exon 6) [41] (Table 1). …”

“…This variant has a substitution of guanine for thymine (G > T) at nucleotide (nt) 770 (exon 7) leading to the replacement of arginine by leucine 257 (R → L) that, according to tridimensional structure is located at a distance of ~9 Å from the substrate-binding site of the β- d -glucose-6-phosphate (G6P) [37,42] (Figure 4). It is important to mention that this mutation is located in the same codon as the G6PD Wayne (R257G) that was previously characterized as a Class I mutant [43].…”

“…The G6PD Yucatan mutation presents a shift of adenine for guanine (nt 1285A > G, K429E) and is located in exon 10. All these mutants were identified in a project performed to determine the molecular basis of G6PD deficiency in Mexico, including nearly 5000 individuals from the general population and patients with hemolytic anemia belonging to at least 14 States from Mexico [37]. …”

DNA sequencing analysis of several G6PD variants previously defined by PCR-restriction enzyme analysis

“…To date a total of 18 different G6PD variants have been observed in Mexico (Arámbula et al 2000;Arámbula 2002;Beutler et al 1991b;Beutler et al 1992;Lisker et al 1981;Medina et al 1995;Medina et al 1997;Vaca et al 2002;Vaca et al 2003) and 3 of them (both G6PD A -variants along with G6PD Santamaria variant) account for more than 80% of the overall prevalence of G6PD deficiency in Mexico (Arámbula 2002;Lisker 1981;Vaca et al 2002).This pattern of common G6PD variants is similar to that seen in other parts of the Americas such as Costa Rica (Beutler et al 1991c), Cuba (Rovira et al 1994), and Brazil (Hamel 2002;Weimer 1998). …”