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2015, Número 1

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Gac Med Mex 2015; 151 (1)


Identificación molecular de la glucosa-6-fosfato deshidrogenasa (G6PD) detectada en el tamiz neonatal

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

Idioma: Español
Referencias bibliográficas: 24
Paginas: 34-41
Archivo PDF: 85.09 Kb.


RESUMEN

Objetivo: Presentar la estrategia de identificación de las variantes moleculares de la G6PD detectados en el tamiz neonatal (TN). Material y métodos: Serie de casos incidentes de recién nacidos (RN) detectados en el TN con deficiencia de G6PD. A partir de DNA nuclear, con la metodología de reacción en cadena de la polimerasa en tiempo real (PCR-TR) se buscaron las variantes moleculares de la G6PD: G202A, A376G, T968C y C563T. Resultados: Se evaluaron 21,619 neonatos, 41 casos fueron reactivos en el TN para G6PD (tasa de 189.6/100,000 RN tamizados); en 34 casos se confirmó la variante molecular de G6PD (tasa de 157.3/100,000 RN tamizados). La combinación alélica más frecuente fue G202A/A376G (proporción y actividad promedio de G6PD de 0.460 y 1.72 ± 0.35 U/g de hemoglobina [Hb], respectivamente), seguida de G202A (0.170 y 1.74 ± 0.27 U/g de Hb) y de la combinación A376G/T968C (proporción 0.150 y 1.10 ± 0.44 U/g de Hb). La variante alélica T968C mostró actividad enzimática más baja que el resto (1.1 ± 0.4; p = 0.02). Se detectaron dos mujeres con deficiencia de G6PD, con variante G202A/A376G y G202A. Conclusiones: Esta estrategia molecular permite identificar las variantes involucradas hasta en el 80% de los casos. Los alelos de origen africano fueron prevalentes.


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