BIOMAT Database Logo BIOMAT Database Logo

Molecular study of eight Japanese cases of glucose-6-phosphate dehydrogenase deficiency by nonradioisotopic single-strand conformation polymorphism analysis. 1994

A Hirono, and S Miwa, and H Fujii, and F Ishida, and K Yamada, and K Kubota
Okinaka Memorial Institute for Medical Research, Tokyo, Japan.

Using a newly developed nonradioisotopic method of polymerase chain reaction single-strand conformation polymorphism (PCR-SSCP) analysis combined with the direct sequencing using the fluorescence-labeled terminator, we identified seven missense mutations, 527 A-->G, 1003 G-->A, 1159 C-->T, 1160 G-->A, 1229 G-->A, 1246 G-->A, and 1361 G-->A, in eight Japanese patients with glucose-6-phosphate dehydrogenase (G6PD) deficiency. Except for the 527 A-->G, each mutation has been reported to cause variants G6PD Chatham, G6PD Guadalajara, G6PD Beverly Hills, G6PD "Japan", G6PD Tokyo, and G6PD Andalus, respectively. In addition, a single base deletion in intron 5 was found in the patients with G6PD Guadalajara or G6PD Andalus. The variant with unique 527 A-->G was characterized and designated as G6PD Shinshu. We also characterized G6PD "Japan" and found that the variant had the striking resemblance with G6PD Riverside, bearing a missense mutation in the same codon, but causing a different amino acid substitution. Our modified PCR-SSCP analysis using minigel and ethidium bromide staining could detect six of the eight diverse mutations in the G6PD gene. Because it is easy and requires no special apparatus, this modified method will be useful for screening mutations in the G6PD gene.

UI MeSH Term Description Entries
D008297 Male Males
D008969 Molecular Sequence Data Descriptions of specific amino acid, carbohydrate, or nucleotide sequences which have appeared in the published literature and/or are deposited in and maintained by databanks such as GENBANK, European Molecular Biology Laboratory (EMBL), National Biomedical Research Foundation (NBRF), or other sequence repositories. Sequence Data, Molecular,Molecular Sequencing Data,Data, Molecular Sequence,Data, Molecular Sequencing,Sequencing Data, Molecular
D009154 Mutation Any detectable and heritable change in the genetic material that causes a change in the GENOTYPE and which is transmitted to daughter cells and to succeeding generations. Mutations
D009249 NADP Nicotinamide adenine dinucleotide phosphate. A coenzyme composed of ribosylnicotinamide 5'-phosphate (NMN) coupled by pyrophosphate linkage to the 5'-phosphate adenosine 2',5'-bisphosphate. It serves as an electron carrier in a number of reactions, being alternately oxidized (NADP+) and reduced (NADPH). (Dorland, 27th ed) Coenzyme II,Nicotinamide-Adenine Dinucleotide Phosphate,Triphosphopyridine Nucleotide,NADPH,Dinucleotide Phosphate, Nicotinamide-Adenine,Nicotinamide Adenine Dinucleotide Phosphate,Nucleotide, Triphosphopyridine,Phosphate, Nicotinamide-Adenine Dinucleotide
D005091 Exons The parts of a transcript of a split GENE remaining after the INTRONS are removed. They are spliced together to become a MESSENGER RNA or other functional RNA. Mini-Exon,Exon,Mini Exon,Mini-Exons
D005954 Glucosephosphate Dehydrogenase Glucose-6-Phosphate Dehydrogenase,Dehydrogenase, Glucose-6-Phosphate,Dehydrogenase, Glucosephosphate,Glucose 6 Phosphate Dehydrogenase
D005955 Glucosephosphate Dehydrogenase Deficiency A disease-producing enzyme deficiency subject to many variants, some of which cause a deficiency of GLUCOSE-6-PHOSPHATE DEHYDROGENASE activity in erythrocytes, leading to hemolytic anemia. Deficiency of Glucose-6-Phosphate Dehydrogenase,Deficiency, GPD,Deficiency, Glucosephosphate Dehydrogenase,G6PD Deficiency,GPD Deficiency,Glucose 6 Phosphate Dehydrogenase Deficiency,Glucose-6-Phosphate Dehydrogenase Deficiency,Glucosephosphate Dehydrogenase Deficiencies,Hemolytic Anemia Due to G6PD Deficiency,Deficiencies, G6PD,Deficiencies, GPD,Deficiencies, Glucose-6-Phosphate Dehydrogenase,Deficiencies, Glucosephosphate Dehydrogenase,Deficiency of Glucose 6 Phosphate Dehydrogenase,Deficiency, G6PD,Deficiency, Glucose-6-Phosphate Dehydrogenase,Dehydrogenase Deficiencies, Glucose-6-Phosphate,Dehydrogenase Deficiencies, Glucosephosphate,Dehydrogenase Deficiency, Glucose-6-Phosphate,Dehydrogenase Deficiency, Glucosephosphate,G6PD Deficiencies,GPD Deficiencies,Glucose-6-Phosphate Dehydrogenase Deficiencies
D006801 Humans Members of the species Homo sapiens. Homo sapiens,Man (Taxonomy),Human,Man, Modern,Modern Man
D001483 Base Sequence The sequence of PURINES and PYRIMIDINES in nucleic acids and polynucleotides. It is also called nucleotide sequence. DNA Sequence,Nucleotide Sequence,RNA Sequence,DNA Sequences,Base Sequences,Nucleotide Sequences,RNA Sequences,Sequence, Base,Sequence, DNA,Sequence, Nucleotide,Sequence, RNA,Sequences, Base,Sequences, DNA,Sequences, Nucleotide,Sequences, RNA
D016133 Polymerase Chain Reaction In vitro method for producing large amounts of specific DNA or RNA fragments of defined length and sequence from small amounts of short oligonucleotide flanking sequences (primers). The essential steps include thermal denaturation of the double-stranded target molecules, annealing of the primers to their complementary sequences, and extension of the annealed primers by enzymatic synthesis with DNA polymerase. The reaction is efficient, specific, and extremely sensitive. Uses for the reaction include disease diagnosis, detection of difficult-to-isolate pathogens, mutation analysis, genetic testing, DNA sequencing, and analyzing evolutionary relationships. Anchored PCR,Inverse PCR,Nested PCR,PCR,Anchored Polymerase Chain Reaction,Inverse Polymerase Chain Reaction,Nested Polymerase Chain Reaction,PCR, Anchored,PCR, Inverse,PCR, Nested,Polymerase Chain Reactions,Reaction, Polymerase Chain,Reactions, Polymerase Chain

Related Publications

A Hirono, and S Miwa, and H Fujii, and F Ishida, and K Yamada, and K Kubota
Identification of mycobacteria by nonradioisotopic single-strand conformation polymorphism analysis.
December 1995, Diagnostic microbiology and infectious disease,
A Hirono, and S Miwa, and H Fujii, and F Ishida, and K Yamada, and K Kubota
Genetic heterogeneity of glucose-6-phosphate dehydrogenase deficiency revealed by single-strand conformation and sequence analysis.
March 1993, American journal of human genetics,
A Hirono, and S Miwa, and H Fujii, and F Ishida, and K Yamada, and K Kubota
Simple and rapid detection of cholesteryl ester transfer protein deficiency by using nonradioisotopic single-strand conformation polymorphism analysis.
December 1994, Clinical chemistry,
A Hirono, and S Miwa, and H Fujii, and F Ishida, and K Yamada, and K Kubota
[Mutation of p53 gene in the transformed fibroblasts detected by nonradioisotopic single strand conformation polymorphism analysis].
May 1997, Wei sheng yan jiu = Journal of hygiene research,
A Hirono, and S Miwa, and H Fujii, and F Ishida, and K Yamada, and K Kubota
Inheritance of glucose 6-phosphate dehydrogenase deficiency, a study of eight families.
March 1973, The Journal of the Association of Physicians of India,
A Hirono, and S Miwa, and H Fujii, and F Ishida, and K Yamada, and K Kubota
Optimization of nonradioisotopic single strand conformation polymorphism analysis with a conventional minislab gel electrophoresis apparatus.
August 1993, Analytical biochemistry,
A Hirono, and S Miwa, and H Fujii, and F Ishida, and K Yamada, and K Kubota
Molecular mechanism of glucose-6-phosphate dehydrogenase deficiency.
January 1974, Humangenetik,
A Hirono, and S Miwa, and H Fujii, and F Ishida, and K Yamada, and K Kubota
Single-strand conformation polymorphism analysis.
June 2006, CSH protocols,
A Hirono, and S Miwa, and H Fujii, and F Ishida, and K Yamada, and K Kubota
[Single-strand conformation polymorphism analysis].
August 1990, Nihon rinsho. Japanese journal of clinical medicine,
A Hirono, and S Miwa, and H Fujii, and F Ishida, and K Yamada, and K Kubota
[Glucose-6-phosphate dehydrogenase deficiency: report of 2 cases].
January 1994, G.E.N,
Copied contents to your clipboard!