Molecular cloning and nucleotide sequence of cDNA for human glucose-6-phosphate dehydrogenase variant A(-)

Journal Article · Wed Jun 01 00:00:00 EDT 1988 · Proceedings of the National Academy of Sciences of the United States of America; (USA)

DOI:https://doi.org/10.1073/pnas.85.11.3951· OSTI ID:5482432

Hirono, A; Beutler, E ^[1]

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1. Research Institute of Scripps Clinic, La Jolla, CA (USA)

Glucose-6-phosphate dehydrogenase A(-) is a common variant in Blacks that causes sensitivity to drug- and infection-induced hemolytic anemia. A cDNA library was constructed from Epstein-Barr virus-transformed lymphoblastoid cells from a male who was G6PD A(-). One of four cDNA clones isolated contained a sequence not found in the other clones nor in the published cDNA sequence. Consisting of 138 bases and coding 46 amino acids, this segment of cDNA apparently is derived from the alternative splicing involving the 3{prime} end of intron 7. Comparison of the remaining sequences of these clones with the published sequence revealed three nucleotide substitutions: C{sup 33} {yields} G, G{sup 202} {yields} A, and A{sup 376} {yields} G. Each change produces a new restriction site. Genomic DNA from five G6PD A(-) individuals was amplified by the polymerase chain reaction. The findings of the same mutation in G6PD A(-) as is found in G6PD A(+) strongly suggests that the G6PD A(-) mutation arose in an individual with G6PD A(+), adding another mutation that causes the in vivo instability of this enzyme protein.

• OSTI ID: 5482432
• Journal Information: Proceedings of the National Academy of Sciences of the United States of America; (USA), Vol. 85:11; ISSN 0027-8424
• Country of Publication: United States
• Language: English

Related Subjects

59 BASIC BIOLOGICAL SCIENCES
HEMIACETAL DEHYDROGENASES
MUTATIONS
RECOMBINANT DNA
DNA SEQUENCING
ANEMIAS
BIOCHEMISTRY
BLACK AMERICANS
DNA-CLONING
ELECTROPHORESIS
MAN
PHOSPHORUS 32
ANIMALS
BETA DECAY RADIOISOTOPES
BETA-MINUS DECAY RADIOISOTOPES
CHEMISTRY
CLONING
DAYS LIVING RADIOISOTOPES
DISEASES
DNA
DNA HYBRIDIZATION
ENZYMES
HEMIC DISEASES
HUMAN POPULATIONS
HYBRIDIZATION
ISOTOPES
LIGHT NUCLEI
MAMMALS
MINORITY GROUPS
NUCLEI
NUCLEIC ACIDS
ODD-ODD NUCLEI
ORGANIC COMPOUNDS
OXIDOREDUCTASES
PHOSPHORUS ISOTOPES
POPULATIONS
PRIMATES
RADIOISOTOPES
STRUCTURAL CHEMICAL ANALYSIS
SYMPTOMS
VERTEBRATES
550201* - Biochemistry- Tracer Techniques