Genotype–Phenotype Correlations of Glucose-6-Phosphate–Deficient Variants Throughout an Activity Distribution
نویسندگان
چکیده
منابع مشابه
Molecular Surveying of the Common Variants of Glucose 6-Phosphate Dehydrogenase Gene in Deficient Patients
Glucose 6-phoshphate dehydrogenase is X-chromosome linked that expressed in all tissues. This is the first enzyme of pentose phosphate pathway were 5-carbon sugar Ribose and NADPH were synthesized by coupled oxidation /reduction reactions and this enzyme is a highly polymorphic enzyme in humans. G6PD deficiency are shown to be the cause of haemolytic effect of Fava beans and primaquine. It soon...
متن کاملGenetic Variants of Human Erythrocyte Glucose-6-phosphate Dehydrogenase
The values of V,,,,, and K, for the three genetic variants A, B, and Aof erythrocyte glucose-&phosphate dehydrogenase have been determined at 10 different pH values in the range from 5.5 to 9.5, and at four different temperatures in the range from 18.5-40.0”. The log V,,,,, versus pH curve for each of the enzymes shows a monotonic increase between pH 5.5 and 7, and a plateau from pH 7.5 upwards...
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The inhibitory effects of several steroids on G6PD activity using intact erythrocytes are reported. Incubation of whole blood with dehydroepiandrosterone (DHEA) resulted in 42% and 12% inhibition in the enzyme activity in the presence and absence of oxygen, respectively. Addition of epinephrine and/or aminophylline into the incubation medium caused further enzyme inhibition suggesting a po...
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Acute lymphoblastic leukemia (ALL) accounts for nearly 30% of pediatric cancers. The maintenance treatment for ALL comprises daily oral 6-mercaptopurine (6-MP) and weekly methotrexate (MTX). 6-MP is a purine analog that can significantly improve the long-term survival of ALL patients. Despite more than 90% of 5-year survival of childhood ALL in developed countries, treatment interruption due to...
متن کاملDistribution and pattern of BCL-6 mutations throughout the spectrum of B-cell neoplasia.
BCL-6 mutations are accumulated during B-cell transit through the germinal center (GC) and provide a histogenetic marker for B-cell tumors. On the basis of a comprehensive analysis of 308 B-cell neoplasms, we (1) expand the spectrum of tumors associated with BCL-6 mutations; (2) corroborate the notion that mutations cluster with GC and post-GC B-cell neoplasms; and (3) identify heterogeneous mu...
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ژورنال
عنوان ژورنال: The Journal of Applied Laboratory Medicine: An AACC Publication
سال: 2018
ISSN: 2475-7241
DOI: 10.1373/jalm.2017.024935