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.
N1 - Publisher Copyright:
© 2014, Indian Academy of Sciences.
PY - 2014/10/25
Y1 - 2014/10/25
N2 - 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 - 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.
KW - G6PD-deficiency
KW - haplotypes
KW - northwest Mexico
KW - variants
UR - http://www.scopus.com/inward/record.url?scp=84911432293&partnerID=8YFLogxK
U2 - 10.1007/s12041-014-0366-z
DO - 10.1007/s12041-014-0366-z
M3 - Artículo
SN - 0022-1333
VL - 93
SP - 325
EP - 330
JO - Journal of Genetics
JF - Journal of Genetics
IS - 2
ER -