Abstract |
We have previously reported a patient with cytochrome b-positive X-linked chronic granulomatous disease. Although the O2- production of neutrophils from the patient was completely defective, we presented data suggesting that the patient's cytochrome b was present at a normal level and possibly had normal spectroscopic features. Thus, to look for a mutation in the cytochrome b heavy chain (gp91-phox) gene, DNA analysis of gp91-phox cDNA derived from this patient was performed. As a result, we found that five nucleotides (1521 through 1525) within exon 12 were deleted, and a new sequence of eight nucleotides was inserted. This mutation converted Gln507-Lys508-Thr509 into His-Ile-Trp-Ala. Mismatched polymerase chain reaction showed that the mother has both wild and mutated alleles, confirming that this case was transmitted in an X-linked fashion. This mutation is different from those previously reported by others. The translocation of p47-phox and p67-phox to the membrane fraction occurred, indicating the complete formation of nicotinamide adenine dinucleotide phosphate ( NADPH) oxidase complex. We conclude that this case suggests that the structure encoded on exon 12 of gp91-phox is important for electron transfer.
|
Authors | H Azuma, H Oomi, K Sasaki, I Kawabata, T Sakaino, S Koyano, T Suzutani, H Nunoi, A Okuno |
Journal | Blood
(Blood)
Vol. 85
Issue 11
Pg. 3274-7
(Jun 01 1995)
ISSN: 0006-4971 [Print] United States |
PMID | 7756659
(Publication Type: Case Reports, Journal Article, Research Support, Non-U.S. Gov't)
|
Chemical References |
- Cytochrome b Group
- DNA, Complementary
- Membrane Glycoproteins
- Membrane Proteins
- Phosphoproteins
- neutrophil cytosol factor 67K
- NADH, NADPH Oxidoreductases
- CYBB protein, human
- NADPH Oxidase 2
- NADPH Oxidases
- neutrophil cytosolic factor 1
- NADPH Dehydrogenase
|
Topics |
- Adult
- Alleles
- Amino Acid Sequence
- Base Sequence
- Child, Preschool
- Cytochrome b Group
(deficiency, genetics, metabolism)
- DNA, Complementary
(genetics)
- Electron Transport
- Exons
(genetics)
- Female
- Genes
- Granulomatous Disease, Chronic
(genetics)
- Humans
- Male
- Membrane Glycoproteins
(deficiency, genetics, metabolism)
- Membrane Proteins
(genetics, metabolism)
- Molecular Sequence Data
- NADH, NADPH Oxidoreductases
(chemistry, genetics)
- NADPH Dehydrogenase
(metabolism)
- NADPH Oxidase 2
- NADPH Oxidases
- Neutrophils
(pathology)
- Phosphoproteins
(metabolism)
- Polymerase Chain Reaction
- Respiratory Burst
- Sequence Deletion
- X Chromosome
|