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

[11] ABSENCE OF BOTH CYTOCHROME-B-245 SUBUNITS FROM NEUTROPHILS IN X-LINKED CHRONIC GRANULOMATOUS-DISEASE
SEGAL, AW
[J]. NATURE, 1987, 326 (6108) : 88 - 91
[12] SHAPIRO BL, 1991, NEW ENGL J MED, V325, P1786
[13] SHURIN SB, 1983, BLOOD, V62, P564
[14] SKALNIK DG, 1991, J BIOL CHEM, V266, P16736
[15] SMITH RM, 1991, BLOOD, V77, P673
[16] TOMIZAWA K, 1991, EUR J HAEMATOL, V46, P52
[17] DNA POLYMORPHISM OF THE C4-GENES - A NEW MARKER FOR ANALYSIS OF THE MAJOR HISTOCOMPATIBILITY COMPLEX
WHITEHEAD, AS
WOODS, DE
FLEISCHNICK, E
CHIN, JE
YUNIS, EJ
KATZ, AJ
GERALD, PS
ALPER, CA
COLTEN, HR
[J]. NEW ENGLAND JOURNAL OF MEDICINE, 1984, 310 (02) : 88 - 91

← 1 2 →