Clinical Chemistry
HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
QUICK SEARCH:   [advanced]


     

Clinical Chemistry 43: 924-929, 1997;
This Article
Right arrow Full Text
Right arrow Full Text (PDF)
Right arrow Alert me when this article is cited
Right arrow Alert me if a correction is posted
Right arrow Citation Map
Services
Right arrow Email this article to a friend
Right arrow Similar articles in this journal
Right arrow Similar articles in Web of Science
Right arrow Similar articles in PubMed
Right arrow Alert me to new issues of the journal
Right arrow Download to citation manager
Right arrow reprints & permissions
Citing Articles
Right arrow Citing Articles via HighWire
Right arrow Citing Articles via Web of Science (23)
Right arrow Citing Articles via Google Scholar
Google Scholar
Right arrow Articles by Maekawa, M.
Right arrow Articles by Kanno, T.
Right arrow Search for Related Content
PubMed
Right arrow PubMed Citation
Right arrow Articles by Maekawa, M.
Right arrow Articles by Kanno, T.
Related Collections
Right arrow Molecular Diagnostics and Genetics
Right arrow Evidence Based Laboratory Medicine and Test Utilization
Right arrow Proteomics and Protein Markers
(Clinical Chemistry. 1997;43:924-929.)
© 1997 American Association for Clinical Chemistry, Inc.

Articles

Genetic mutations of butyrylcholine esterase identified from phenotypic abnormalities in Japan

Masato Maekawa1,a, Kayoko Sudo2, Dilip Chandra Dey3, Jinko Ishikawa3, Masakazu Izumi3, Kazuo Kotani3 and Takashi Kanno3

1 Clinical Laboratory, National Cancer Center Hospital, Tsukiji 5-chome, Chuo-ku, Tokyo, 104 Japan.

2 Department of Laboratory Medicine, Jikei University School of Medicine, The Daisan Hospital, 4-11-1 Izumi-honcho, Komae, 201 Japan.

3 Department of Laboratory Medicine, Hamamatsu University School of Medicine, Handa-cho 3600, Hamamatsu City, 431–31 Japan.
a Author for correspondence. Fax 81-3-3542-3815; e-mail mmaekawa{at}gan2.ncc.go.jp

We have identified 12 kinds of genetic mutations of butyrylcholine esterase (BCHE) from phenotypic abnormalities, showing that BCHE activities were deficient or diminished in sera. These genetic mutations, detected by PCR–single-strand conformation polymorphism analysis and direct sequencing, consisted of one deletion (BCHE*FS4), nine missense (BCHE*24 M, *100S, *250P, *267R, *330I, *365R, *418S, *515C, *539T), and two nonsense mutations (BCHE*119STOP, *465STOP). All of the individuals deficient in serum BCHE activity were homozygous for silent genes (6 of 6). Fifty-eight percent of the individuals (31 of 53) with slightly reduced serum BCHE activity were heterozygous for silent genes. They also showed a higher frequency (47% as allele frequency) of the K-variant than the general population (17.5%). Finally, we confirmed low serum BCHE activity in 10 of 23 individuals heterozygous for silent genes.


Key Words: indexing terms: PCR • single-strand conformation polymorphism • deletion mutation • missense mutation • nonsense mutation • genotype:phenotype correlation




The following articles in journals at HighWire Press have cited this article:


Home page
 Clin. Chem.Home page
R. Calderon-Margalit, B. Adler, J. H. Abramson, J. Gofin, and J. D. Kark
Butyrylcholinesterase Activity, Cardiovascular Risk Factors, and Mortality in Middle-Aged and Elderly Men and Women in Jerusalem
Clin. Chem., May 1, 2006; 52(5): 845 - 852.
[Abstract] [Full Text] [PDF]

Home page
 Pharmacol. Rev.Home page
M. J. Kreek, G. Bart, C. Lilly, K. S. Laforge, and D. A. Nielsen
Pharmacogenetics and Human Molecular Genetics of Opiate and Cocaine Addictions and Their Treatments
Pharmacol. Rev., March 1, 2005; 57(1): 1 - 26.
[Abstract] [Full Text] [PDF]

Home page
 Clin. Chem.Home page
M. Maekawa, T. Taniguchi, J. Ishikawa, S. Toyoda, and N. Takahata
Problem with Detection of an Insertion-Type Mutation in the BCHE Gene in a Patient with Butyrylcholinesterase Deficiency
Clin. Chem., December 1, 2004; 50(12): 2410 - 2411.
[Full Text] [PDF]


HOME HELP FEEDBACK SUBSCRIPTIONS ARCHIVE SEARCH TABLE OF CONTENTS
Copyright © 1997 by the American Association for Clinical Chemistry.