[Molecular identification of glucose-6-phosphate dehydrogenase (G6PD) detected in neonatal screening].
OBJECTIVE
To present the strategy of identifying the molecular variants of G6PD detected in neonatal screening (NS).


METHODS
We present a series of incident cases of newborns positive for G6PD deficiency detected in NS. From nuclear DNA with the methodology of real-time PCR we sought molecular G6PD variants: G202A, A376G, T968C and C563T.


RESULTS
Of a total of 21,619 neonates, 41 cases were reactive in NS for G6PD (189.6/100,000 RN screened rate), 34 cases confirmed the molecular variant of G6PD (157.3/100,000 RN screened rate). The most frequent allele combination G202A/A376G (G6PD ratio and median activity, 0.460 and 1.72 ± 0.35 U/g Hb, respectively), followed by G202A (0.170 and 1.74 ± 0.27 U/g Hb) and A376G/T968C (ratio 0.150 and 1.10 ± 0.44 U/g Hb). The T968C allelic variant showed lower enzyme activity than the rest (1.1 ± 0.4; p = 0.02). Two women were detected with G6PD deficiency with G202A/A376G and G202A variant.


CONCLUSIONS
African alleles were prevalently detected in neonatal screening. This strategy allows the identification of molecular variants involved in 80% of cases.
Universidad Nacional Autónoma de México, Maestria en Ciencias Medicas, UNAM, México, D.F.
Clara Aurora
CA
Zamorano-Jiménez
Hematología Perinatal, Instituto Nacional de Perinatología, México, D.F.
Héctor Alfredo
HA
Baptista-González
Hematología Perinatal, Instituto Nacional de Perinatología, México, D.F.|Doctorado en Ciencias Qui, micobiologicas, ENCB-IPN, México, D.F.
Patricia
P
Bouchán-Valencia
Coordinación de Tamiz Neonatal, Instituto Nacional de Perinatología, México, D.F.
Martha Lucía
ML
Granados-Cepeda
Hematología Perinatal, Instituto Nacional de Perinatología, México, D.F.|Doctorado en Ciencias Qui, micobiologicas, ENCB-IPN, México, D.F.
Rocío
R
Trueba-Gómez
Hematología Perinatal, Instituto Nacional de Perinatología, México, D.F.
Georgina
G
Coeto-Barona
Hematología Perinatal, Instituto Nacional de Perinatología, México, D.F.
Fany
F
Rosenfeld-Mann
Coordinación de Tamiz Neonatal, Instituto Nacional de Perinatología, México, D.F.
Luisa Blanca
LB
Rosa-Mireles
Coordinación de Tamiz Neonatal, Instituto Nacional de Perinatología, México, D.F.
Rocío
R
Meléndez-Ramírez
D005260:Female; D005954:Glucosephosphate Dehydrogenase / Q000235:genetics*; D005955:Glucosephosphate Dehydrogenase Deficiency / Q000175:diagnosis*; D006801:Humans; D007231:Infant, Newborn; D008137:Longitudinal Studies; D008297:Male; D015997:Neonatal Screening / Q000379:methods*; D015995:Prevalence; D011446:Prospective Studies; D060888:Real-Time Polymerase Chain Reaction
D005954:Glucosephosphate Dehydrogenase