ISSN:
1432-1076
Keywords:
X-linked chronic granulomatous disease
;
Mutant cytochrome b heavy chain
;
Point mutation
;
Molecular genetic analysis
Source:
Springer Online Journal Archives 1860-2000
Topics:
Medicine
Notes:
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.
Type of Medium:
Electronic Resource
URL:
http://dx.doi.org/10.1007/BF01955051
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