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

N. GarcÍa-Magallanes, F. Luque-Ortega, E. M. Aguilar-Medina, R. Ramos-PayÁn, C. Galaviz-HernÁndez, J. G. Romero-Quintana, L. Del Pozo-Yauner, H. Rangel-Villalobos, E. ArÁmbula-Meraz

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Abstract

© 2014, Indian Academy of Sciences. 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/968Cand 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.
Original languageAmerican English
Pages (from-to)325-330
Number of pages291
JournalJournal of Genetics
DOIs
StatePublished - 1 Jan 2014

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Glucosephosphate Dehydrogenase Deficiency
Mexico
Mutation
Hemolytic Anemia
Neonatal Hyperbilirubinemia
Population
Genetic Heterogeneity
DNA Sequence Analysis
Restriction Fragment Length Polymorphisms
Proteomics
Haplotypes
Pathology

Cite this

GarcÍa-Magallanes, N., Luque-Ortega, F., Aguilar-Medina, E. M., Ramos-PayÁn, R., Galaviz-HernÁndez, C., Romero-Quintana, J. G., ... ArÁmbula-Meraz, E. (2014). Glucose-6-phosphate dehydrogenase deficiency in northern Mexico and description of a novel mutation. Journal of Genetics, 325-330. https://doi.org/10.1007/s12041-014-0366-z
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. / Glucose-6-phosphate dehydrogenase deficiency in northern Mexico and description of a novel mutation. In: Journal of Genetics. 2014 ; pp. 325-330.
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abstract = "{\circledC} 2014, Indian Academy of Sciences. 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/968Cand 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.",
author = "N. Garc{\'I}a-Magallanes and F. Luque-Ortega and Aguilar-Medina, {E. M.} and R. Ramos-Pay{\'A}n and C. Galaviz-Hern{\'A}ndez and Romero-Quintana, {J. G.} and {Del Pozo-Yauner}, L. and H. Rangel-Villalobos and E. Ar{\'A}mbula-Meraz",
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GarcÍa-Magallanes, N, Luque-Ortega, F, Aguilar-Medina, EM, Ramos-PayÁn, R, Galaviz-HernÁndez, C, Romero-Quintana, JG, Del Pozo-Yauner, L, Rangel-Villalobos, H & ArÁmbula-Meraz, E 2014, 'Glucose-6-phosphate dehydrogenase deficiency in northern Mexico and description of a novel mutation', Journal of Genetics, pp. 325-330. https://doi.org/10.1007/s12041-014-0366-z

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

In: Journal of Genetics, 01.01.2014, p. 325-330.

Research output: Contribution to journalArticle

TY - JOUR

T1 - Glucose-6-phosphate dehydrogenase deficiency in northern Mexico and description of a novel mutation

AU - GarcÍa-Magallanes, N.

AU - Luque-Ortega, F.

AU - Aguilar-Medina, E. M.

AU - Ramos-PayÁn, R.

AU - Galaviz-HernÁndez, C.

AU - Romero-Quintana, J. G.

AU - Del Pozo-Yauner, L.

AU - Rangel-Villalobos, H.

AU - ArÁmbula-Meraz, E.

PY - 2014/1/1

Y1 - 2014/1/1

N2 - © 2014, Indian Academy of Sciences. 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/968Cand 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.

AB - © 2014, Indian Academy of Sciences. 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/968Cand 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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GarcÍa-Magallanes N, Luque-Ortega F, Aguilar-Medina EM, Ramos-PayÁn R, Galaviz-HernÁndez C, Romero-Quintana JG et al. Glucose-6-phosphate dehydrogenase deficiency in northern Mexico and description of a novel mutation. Journal of Genetics. 2014 Jan 1;325-330. https://doi.org/10.1007/s12041-014-0366-z