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A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid, in a patient with cytochrome b positive X-linked chronic granulomatous disease

  • Hematology/Oncology
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Abstract

Molecular genetic analysis was performed in a patient with cytochrome b positive X-linked chronic granulomatous disease. A previous Southern blot study, using a cytochrome b heavy chain cDNA as probe, revealed a Pst I restriction fragment pattern for the cytochrome b heavy chain gene (CYBB) different to that of normal individuals. Since restriction length polymorphism with Pst I has never been observed in control individuals and no abnormal restriction fragment patterns in the patient's CYBB was detected with seven other enzymes used, we focussed on the single Pst I site in the CYBB cDNA as being the only mutation site responsible for his disease. A fragment of the patient's cDNA which included the Pst I site was amplified by reverse polymerase chain reaction, and loss of the Pst I site in the fragment was confirmed by incubation with Pst I. Subsequent sequence analysis of the fragment revealed a point mutation in the Pst I site (cytosine to adenine), substituting glutamic acid for alanine at position 57.

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Abbreviations

CGD:

chronic granulomatous disease

CYBB:

cytochrome b heavy chain gene

EBV:

Epstein-Barr virus

phox:

phagocytic oxidase

gp91-phox:

91-kD glycoprotein

p22-phox:

22-kD polypepetide

p47-phox:

47-kD cytoplasmic oxidase component

p67-phox:

67-kD cytoplasmic oxidase component

PCR:

polymerase chain reaction

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Ariga, T., Sakiyama, Y., Tomizawa, K. et al. A newly recognized point mutation in the cytochrome b558 heavy chain gene replacing alanine57 by glutamic acid, in a patient with cytochrome b positive X-linked chronic granulomatous disease. Eur J Pediatr 152, 469–472 (1993). https://doi.org/10.1007/BF01955051

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  • DOI: https://doi.org/10.1007/BF01955051

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