Diverse point mutations in the human glucose-6-phosphate dehydrogenase gene cause enzyme deficiency and mild or severe hemolytic anemia
- Royal Postgraduate Medical School, London (England)
Glucose-6-phosphate dehydrogenase deficiency is a common genetic abnormality affecting an estimated 400 million people worldwide. Clinical and biochemical analyses have identified many variants exhibiting a range of phenotypes, which have been well characterized from the hematological point of view. However, until now, their precise molecular basis has remained unknown. The authors have cloned and sequenced seven mutant G6PD alleles. In the nondeficient polymorphic African variant G6PD A they have found a single point mutation. The other six mutants investigated were all associated with enzyme deficiency. The mutations observed show a striking predominance of C {yields} T transitions, with CG doublets involved in four of seven cases. Thus, diverse point mutations may account largely for the phenotypic heterogeneity of G6PD deficiency.
- OSTI ID:
- 5641067
- Journal Information:
- Proceedings of the National Academy of Sciences of the United States of America; (USA), Vol. 85:14; ISSN 0027-8424
- Country of Publication:
- United States
- Language:
- English
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Related Subjects
GENE MUTATIONS
DNA SEQUENCING
HEMIACETAL DEHYDROGENASES
AMINO ACID SEQUENCE
HEREDITARY DISEASES
ETIOLOGY
HUMAN POPULATIONS
PHENOTYPE
PHENYLALANINE
RECOMBINANT DNA
SERINE
AMINO ACIDS
CARBOXYLIC ACIDS
DISEASES
DNA
ENZYMES
HYDROXY ACIDS
MOLECULAR STRUCTURE
MUTATIONS
NUCLEIC ACIDS
ORGANIC ACIDS
ORGANIC COMPOUNDS
OXIDOREDUCTASES
POPULATIONS
STRUCTURAL CHEMICAL ANALYSIS
550401* - Genetics- Tracer Techniques