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Chaves, A.; Eberle, S.E.; Defelipe, L.; Pepe, C.; Milanesio, B.; Aguirre, F.; Fernandez, D.; Turjanski, A.; Feliú-Torres, A. "Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients" (2016) Clinical Biochemistry. 49(10-11):808-810
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Abstract:

Objective The enzyme glucose-6-phosphate dehydrogenase (G6PD) catalyses the first step in the pentose phosphate pathway, producing nicotinamide adenine dinucleotide phosphate (NADPH). NADPH plays a crucial role in preventing oxidative damage to proteins and other molecules in cells, mostly red blood cells. G6PD deficiency has an X-linked pattern of inheritance in which hemizygous males are deficient, while females may or may not be deficient depending on the number of affected alleles. We report two novel DNA variants in the G6PD gene detected in two male probands with chronic nonspherocytic hemolytic anemia (CNSHA), who were referred for hematological evaluation. Method Probands and their relatives underwent clinical, biochemical, and molecular assessment. Results Two novel DNA variants, c.995C > T and c.1226C > A, were found in this study. At the protein level, they produce the substitution of Ser332Phe and Pro409Gln, respectively. These DNA variants were analyzed in the female relatives of probands for genetic counseling. Conclusions The novel DNA variants were classified as class I based on the clinical, biochemical, and molecular evaluations performed. © 2016 The Canadian Society of Clinical Chemists

Registro:

Documento: Artículo
Título:Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients
Autor:Chaves, A.; Eberle, S.E.; Defelipe, L.; Pepe, C.; Milanesio, B.; Aguirre, F.; Fernandez, D.; Turjanski, A.; Feliú-Torres, A.
Filiación:Servicio de Hematología-Oncología, Hospital de Pediatría “Prof. Dr. Juan P. Garrahan,”, Combate de los Pozos 1881, Buenos Aires, C1245AAM, Argentina
Departamento de Química Biológica, INQUIMAE/UBA-CONICET, Facultad de Ciencias Exactas y Naturales, Universidad de Buenos Aires, Buenos Aires, Argentina
Palabras clave:G6PD deficiency; G6PD DNA variants; Hemolytic anemia; alanine; cysteine; DNA; glucose 6 phosphate dehydrogenase; glutamine; phenylalanine; proline; protein; serine; threonine; biological marker; DNA; glucose 6 phosphate dehydrogenase; amino acid substitution; Argentina; Article; blood biochemistry; case report; child; cholecystectomy; chronic nonspherocytic hemolytic anemia; female; genetic analysis; genetic counseling; genetic variability; glucose 6 phosphate dehydrogenase deficiency; hematological procedure; hereditary hemolytic anemia; human; male; molecular genetics; newborn jaundice; phototherapy; preschool child; priority journal; screening test; single nucleotide polymorphism; blood examination; chemistry; enzymology; erythrocyte; genetic variation; genetics; glucose 6 phosphate dehydrogenase deficiency; metabolism; pathology; polymerase chain reaction; prognosis; protein conformation; Biomarkers; Child, Preschool; DNA; Erythrocytes; Female; Genetic Variation; Glucosephosphate Dehydrogenase; Glucosephosphate Dehydrogenase Deficiency; Hematologic Tests; Humans; Male; Polymerase Chain Reaction; Prognosis; Protein Conformation
Año:2016
Volumen:49
Número:10-11
Página de inicio:808
Página de fin:810
DOI: http://dx.doi.org/10.1016/j.clinbiochem.2016.01.018
Título revista:Clinical Biochemistry
Título revista abreviado:Clin. Biochem.
ISSN:00099120
CODEN:CLBIA
CAS:alanine, 56-41-7, 6898-94-8; cysteine, 4371-52-2, 52-89-1, 52-90-4; DNA, 9007-49-2; glucose 6 phosphate dehydrogenase, 37259-83-9, 9001-40-5; glutamine, 56-85-9, 6899-04-3; phenylalanine, 3617-44-5, 63-91-2; proline, 147-85-3, 7005-20-1; protein, 67254-75-5; serine, 56-45-1, 6898-95-9; threonine, 36676-50-3, 72-19-5; Biomarkers; DNA; Glucosephosphate Dehydrogenase
Registro:https://bibliotecadigital.exactas.uba.ar/collection/paper/document/paper_00099120_v49_n10-11_p808_Chaves

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Citas:

---------- APA ----------
Chaves, A., Eberle, S.E., Defelipe, L., Pepe, C., Milanesio, B., Aguirre, F., Fernandez, D.,..., Feliú-Torres, A. (2016) . Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients. Clinical Biochemistry, 49(10-11), 808-810.
http://dx.doi.org/10.1016/j.clinbiochem.2016.01.018
---------- CHICAGO ----------
Chaves, A., Eberle, S.E., Defelipe, L., Pepe, C., Milanesio, B., Aguirre, F., et al. "Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients" . Clinical Biochemistry 49, no. 10-11 (2016) : 808-810.
http://dx.doi.org/10.1016/j.clinbiochem.2016.01.018
---------- MLA ----------
Chaves, A., Eberle, S.E., Defelipe, L., Pepe, C., Milanesio, B., Aguirre, F., et al. "Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients" . Clinical Biochemistry, vol. 49, no. 10-11, 2016, pp. 808-810.
http://dx.doi.org/10.1016/j.clinbiochem.2016.01.018
---------- VANCOUVER ----------
Chaves, A., Eberle, S.E., Defelipe, L., Pepe, C., Milanesio, B., Aguirre, F., et al. Two novel DNA variants associated with glucose-6-phosphate dehydrogenase deficiency found in Argentine pediatric patients. Clin. Biochem. 2016;49(10-11):808-810.
http://dx.doi.org/10.1016/j.clinbiochem.2016.01.018