Access the full text.
Sign up today, get DeepDyve free for 14 days.
Loading next page...
/lp/wiley/genetic-analysis-of-a-japanese-patient-with-butyrylcholinesterase-c8V0aoh1fq
References (11)
-
(1969)
Survey of atypical pseudocholinesterasemia in Okayama district and a new method for its detection -
(1991)
Use of the polymerase chain reaction for homology probing of butyrylcholineserase from several vertebrates -
K. Hidaka, I. Iuchi, T. Yamasaki, N. Ueda, K. Hukano (1997)
Nonsense mutation in exon 2 of the butyrylcholinesterase gene: a case of familial cholinesterasemia.Clinica chimica acta; international journal of clinical chemistry, 261 1
-
H. Arakawa, K. Uetanaka, M. Maeda, A. Tsuji (1994)
Analysis of polymerase chain reaction product by capillary electrophoresis and its application to the detection of single base substitution in genes.Journal of chromatography. A, 664 1
-
J. Hangaard, M. Whittaker, A. Loft, B. No̸rgaard-Pedersen (1991)
Quantification and phenotyping of serum cholinesterase by enzyme antigen immunoassay: methodological aspects and clinical applicability.Scandinavian journal of clinical and laboratory investigation, 51 4
-
M. Maekawa, K. Sudo, D. Dey, K. Kotani, J. Ishikawa, M. Izumi, T. Usuda, T. Kanno (1994)
Genetic analysis of mutations in individuals with low serum cholinesterase activitySeibutsu Butsuri Kagaku, 38
-
M. Maekawa, K. Sudo, T. Kanno, K. Kotani, D. Dey, J. Ishikawa, M. Izumi, K. Etoh (1995)
Genetic basis of the silent phenotype of serum butyrylcholinesterase in three compound heterozygotes.Clinica chimica acta; international journal of clinical chemistry, 235 1
-
H. Hirano (1988)
[Microsequence analysis of proteins electroblotted from polyacrylamide gels].Tanpakushitsu kakusan koso. Protein, nucleic acid, enzyme, 33 13
-
H. Harris, D. Hopkinson, E. Robson (1962)
Two-Dimensional Electrophoresis of Pseudocholinesterase Components in Normal Human SerumNature, 196
-
M. McGuire, C. Nogueira, C. Bartels, H. Lightstone, A. Hajra, A. Spek, O. Lockridge, B. Du (1989)
Identification of the structural mutation responsible for the dibucaine-resistant (atypical) variant form of human serum cholinesterase.Proceedings of the National Academy of Sciences of the United States of America, 86 3
-
K. Hidaka, I. Iuchi, T. Yamasaki, M. Ohhara, T. Shoda, S. Primo-Parmo, B. Ladu (1992)
[Identification of two different genetic mutation associated with silent phenotypes for human serum cholinesterase in Japanese].Rinsho byori. The Japanese journal of clinical pathology, 40 5
- Publisher
- Wiley
- Copyright
- Copyright © 1997 Wiley Subscription Services
- ISSN
- 0003-4800
- eISSN
- 1469-1809
- DOI
- 10.1046/j.1469-1809.1997.6160491.x
- pmid
- 9543549
- Publisher site
- See Article on Publisher Site
Abstract
A patient (64‐year‐old, male) with familial cholinesterasemia caused by BChE deficiency was studied. DNA sequence analysis of all exons identified a point mutation, an A→G transition at codon 128, resulting in a Tyr→Cys substitution. The propositus showed extremely low BChE activity, but his other family members (three individuals) showed from intermediate to normal BChE activity. An immunological method revealed the absence of BChE protein in serum of the propositus. Both PCR primer introduced restriction analysis (PCR‐PIRA) and sequence analysis revealed all three family members to be heterozygotes for this mutation.
Journal
Annals of Human Genetics – Wiley
Published: Jan 1, 1997