Molecular Heterogeneity of Glucose-6-phosphate Dehydrogenase Deficiency in Mexico: Overall Results of a 7-Year Project

Vaca, G; Arámbula, Eliakym; Esparza, Amparo

doi:10.1006/bcmd.2002.0532

Cited by 22 publications

(20 citation statements)

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“…Our findings fit into the scheme of world distribution of these mutations. The only mutation with a moderate enzyme activity found in our population was G6PD Seattle, which is described worldwide (Rodrigues et al 2002;Vaca et al 2002).…”

Section: Resultsmentioning

confidence: 63%

Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split

et al. 2005

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Glucose-6-phosphate dehydrogenase (G6PD) deficiency protects from severe forms of malaria. It is interesting therefore to analyze the molecular basis underlying G6PD deficiency in regions such as the Mediterranean basin where malaria was present for a long time in history. Here we report on the genetic characterization of G6PD deficiency among inhabitants of one Mediterranean region-the Dalmatian region of south Croatia. We analyzed 24 unrelated G6PD-deficient male subjects. Molecular testing revealed several different mutations: G6PD Cosenza 9, G6PD Mediterranean 4, G6PD Seattle 3, G6PD Union 3, and G6PD Cassano 1. Furthermore, we have identified one novel G6PD variant that we named G6PD Split. This variant is caused by a nucleotide change 1442 C fi G leading to the amino acid substitution 481 Pro fi Arg and is characterized by moderate enzyme deficiency (class III variant). This study reveals a higher prevalence (37.5%) of the Cosenza mutation in the Dalmatian region than anywhere else previously investigated and overall shows the considerable molecular heterogeneity underlining G6PD deficiency that can be observed in Mediterranean populations.

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Section: Resultsmentioning

confidence: 63%

Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split

et al. 2005

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“…We previously screened more than 5000 individuals for glucose-6-phosphate dehydrogenase (G6PD) deficiency in order to determine the molecular basis of G6PD deficiency in Mexico (Arámbula et al 2000;Arámbula 2002;Medina et al 1995Medina et al , 1997Vaca et al 2002). In 67 (88%) of the G6PD deficient individuals detected, the mutation responsible being defined using PCR-restriction enzyme analysis (PCR-REA) combined with single strand conformation polymorphism (Arámbula y Vaca, 2002).…”

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confidence: 99%

“…Nt substitutions at nt 1179 generate silent polymorphisms (Arg393Arg) whereas nt substitutions at nt 1177, 1178, or 1180 generate missense mutations such as the mutations at nt 1177 C ® G (G6PD Wisconsin; Arg393 Gly), nt 1178 G ® A (G6PD Nashville; Arg393His), and nt 1180 G ® C (G6PD Alhambra; Val394Leu). The mutation present in the first variant also eliminates an Alw-I site whereas the mutation in the third variant generates a Pst-I site, the haplotype Alw-I/BstUI/ Pst-I +/-/ -suggesting the presence of the G6PD Nashville variant ,the presence of this haplotype being the accepted definition of the G6PD Nashville variant (Arámbula, 2002;Vaca et al 2002).However an identical haplotype can also be generated by base changes such as nt 1178 G ® T, or C; nt 1179 C ® G, A, or T (silent mutations); and nt 1180 G ® A, or T ( Table 2). …”

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confidence: 99%

“…The Hha-I restriction site 5'-GCGC-3' at nt 1359-1362 can be eliminated by any base change in the enzyme recognition sequence (Table 1) generate missense mutations such as the mutation at nt 1361 G ® A (G6PD Andalus; Arg454His) which also eliminates a BspMI site. Thus, the haplotype Hha-I/ BspMI -/+ suggest the presence of the G6PD Union variant , the presence of this haplotype being the accepted definition of the G6PD Union variant (Arámbula 2002;Vaca et al 2002) but the same haplotype can also be generated by mutations at nt 1359 G ® C, A, or T or by mutations at nt 1360 C ® G, or A (Table 2).…”

mentioning

confidence: 99%

“…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). …”

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confidence: 99%

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

Vaca

Arámbula-Meraz

2006

Genet. Mol. Biol.

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

García-Magallanes

Luque-Ortega

Aguilar-Medina

et al. 2014

J Genet

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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), G6PDA(-376G/968C) and G6PD Santamaria(376G/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 DF(193A>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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Molecular Heterogeneity of Glucose-6-phosphate Dehydrogenase Deficiency in Mexico: Overall Results of a 7-Year Project

Cited by 22 publications

References 33 publications

Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split

Characterization of G6PD deficiency in southern Croatia: description of a new variant, G6PD Split

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

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

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