Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis

• Published in: American journal of human genetics Vol. 52; no. 3; pp. 527 - 536
• Main Authors: CALABRO, V, MASON, P. J, FILOSA, S, CIVITELLI, D, CITTADELLA, R, TAGARELLI, A, MARTINI, G, BRANCATI, C, LUZZATTO, L
• Format: Journal Article
• Language: English
• Published: Chicago, IL University of Chicago Press 01.03.1993
• Subjects: Anemias. Hemoglobinopathies; Base Sequence; BASIC BIOLOGICAL SCIENCES; Biological and medical sciences; BIOLOGICAL MARKERS; Child; deficiency; DETECTION; DEVELOPED COUNTRIES; DISEASES; Diseases of red blood cells; DNA - genetics; DNA SEQUENCING; DNA, Single-Stranded - genetics; ENZYMES; EUROPE; Exons; GENE MUTATIONS; genetic variance; Genetic Variation; glucose-6-phosphate dehydrogenase; Glucosephosphate Dehydrogenase - genetics; Glucosephosphate Dehydrogenase Deficiency - genetics; Hematologic and hematopoietic diseases; heterogeneity; Humans; ITALY; Kinetics; Male; man; Medical sciences; METABOLIC DISEASES; Molecular Sequence Data; MUTATIONS; Nucleic Acid Conformation; Oligodeoxyribonucleotides; ORGANIC COMPOUNDS; OXIDOREDUCTASES; Polymerase Chain Reaction - methods; PROTEINS; Restriction Mapping; single-strand conformation polymorphism; STRUCTURAL CHEMICAL ANALYSIS 550400 > Genetics; Italy; Europe; Human; Nucleotide sequence; Enzyme; Deficiency; Metabolic diseases; Male; Hemopathy; Single strand conformation polymorphisme; Enzymopathy; Genetic disease; Hemolytic anemia; Glucose-6-phosphate dehydrogenase; Genetics; Mutation; Molecular biology

We have carried out a systematic study of the molecular basis of glucose-6-phosphate dehydrogenase (G6PD) deficiency on a sample of 53 male subjects from Calabria, in southern Italy. Our sequential approach consisted of the following steps: (1) Partial biochemical characterization was used to pinpoi...