A NEWLY RECOGNIZED POINT MUTATION IN THE CYTOCHROME-B(558) HEAVY-CHAIN GENE REPLACING ALANINE(57) BY GLUTAMIC-ACID, IN A PATIENT WITH CYTOCHROME-B POSITIVE X-LINKED CHRONIC GRANULOMATOUS-DISEASE

作者：ARIGA T^*; SAKIYAMA Y; TOMIZAWA K; IMAJOHOHMI S; KANEGASAKI S; MATSUMOTO S

来源：European Journal of Pediatrics, 1993, 152(6): 469-472.

DOI：10.1007/BF01955051

• X-LINKED CHRONIC GRANULOMATOUS DISEASE
• MUTANT CYTOCHROME-B HEAVY CHAIN
• POINT MUTATION
• MOLECULAR GENETIC ANALYSIS

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.

• 出版日期1993-6
• 单位河北医科大学