Zamorano-Jiménez CA, Baptista-González HA, Bouchán-Valencia P, Granados-Cepeda ML, Trueba-Gómez R, Coeto-Barona G, Rosenfeld-Mann F, Rosa-Mireles LB, Meléndez-Ramírez R

Language: Spanish
References: 24
Page: 34-41
PDF size: 85.09 Kb.

ABSTRACT

Aims: To present the strategy of identifying the molecular variants of G6PD detected in neonatal screening (NS). Material and 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.

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