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

被引：21

作者：

ARIGA, T ^{[1
]}

SAKIYAMA, Y ^{[1
]}

TOMIZAWA, K ^{[1
]}

IMAJOHOHMI, S ^{[1
]}

KANEGASAKI, S ^{[1
]}

MATSUMOTO, S ^{[1
]}

机构：

[1] UNIV TOKYO,INST MED SCI,TOKYO 108,JAPAN

来源：

EUROPEAN JOURNAL OF PEDIATRICS | 1993年 / 152卷 / 06期

关键词：

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

D O I：

10.1007/BF01955051

中图分类号：

R72 [儿科学];

学科分类号：

100202 ;

摘要：

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.

引用

页码：469 / 472

页数：4

共 17 条

[1] TYPE-I C1 INHIBITOR DEFICIENCY WITH A SMALL MESSENGER-RNA RESULTING FROM DELETION OF ONE EXON [J].