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Literature DB >> 1271425

New allele at cholinesterase locus 1.

P J Garry, A A Dietz, T Lubrano, P C Ford, K James, H M Rubinstein.

Abstract

A family (H-J pedigree) segregating for the A and F alleles at cholinesterase locus 1 is described. Apparent anomalous results led to the recognition of a new allele (E1j) also segregating in the family. The data are consistent with the hypothesis that the the E1j causes reduction of 'usual' (E1u) molecules by about 66%. Whether this is because of retarded synthesis or accelerated degradation of serum cholinesterase remains to be determined.

Entities: Disease Gene Mutation

Mesh：

Substances：
Cholinesterases

Year: 1976 PMID： 1271425 PMCID： PMC1013347 DOI： 10.1136/jmg.13.1.38

Source DB: PubMed Journal: J Med Genet ISSN： 0022-2593 Impact factor: 6.318

13 in total

1. Further variation of the "silent" cholinesterase gene.

Authors: A H Lubin; P J Garry; G M Owen; L C Prince; A A Dietz
Journal: Biochem Med Date: 1973-08

2. Colorimetric determination of serum cholinesterase and its genetic variants by the propionylthiocholine-dithiobis(nitrobenzoic acid)procedure.

Authors: A A Dietz; H M Rubinstein; T Lubrano
Journal: Clin Chem Date: 1973-11 Impact factor: 8.327

3. Improved method for the differentiation of cholinesterase variants.

Authors: A A Dietz; H M Rubinstein; T Lubrano; L K Hodges
Journal: Am J Hum Genet Date: 1972-01 Impact factor: 11.025

4. Polyacrylamide electrophoresis used for the detection of C5+ cholinesterase in Canadian caucasians, Indians, and Eskimos.

Authors: N E Simpson
Journal: Am J Hum Genet Date: 1972-05 Impact factor: 11.025

5. A manual and automated procedure for measuring serum cholinesterase activity and identifying enzyme variants. Differentiation by means of Tris and phosphate buffers.

Authors: P J Garry
Journal: Clin Chem Date: 1971-03 Impact factor: 8.327

New allele at cholinesterase locus 1.

1. Further variation of the "silent" cholinesterase gene.

2. Colorimetric determination of serum cholinesterase and its genetic variants by the propionylthiocholine-dithiobis(nitrobenzoic acid)procedure.

3. Improved method for the differentiation of cholinesterase variants.

4. Polyacrylamide electrophoresis used for the detection of C5+ cholinesterase in Canadian caucasians, Indians, and Eskimos.

5. A manual and automated procedure for measuring serum cholinesterase activity and identifying enzyme variants. Differentiation by means of Tris and phosphate buffers.

6. A pseudocholinesterase variant (E Cynthiana) associated with elevated plasma enzyme activity.

7. The pseudocholinesterase variants. Differentiation by means of sodium chloride.

8. E1j, a quantitative variant at cholinesterase locus 1: immunological evidence.

9. Identification of serum cholinesterase fluoride variants by differential inhibition in tris and phosphate buffers.

10. Silent cholinesterase gene: variations in the properties of serum enzyme in apparent homozygotes.

1. Identification of the E1fE1k cholinesterase genotype.

2. E1k, another quantitative variant at cholinesterase locus 1.

3. Immunological comparison of the usual and atypical human serum cholinesterase phenotypes.

4. A family segregating for E1j and E1k at cholinesterase locus 1.

5. Proposed nomenclature for human butyrylcholinesterase genetic variants identified by DNA sequencing.

6. Cholinesterase Newfoundland: a new succinylcholine-sensitive variant of cholinesterase at locus 1.

7. On the identification and frequency of the J and K cholinesterase phenotypes in a Caucasian population.

8. DNA mutations associated with the human butyrylcholinesterase J-variant.

9. Characterization of 12 silent alleles of the human butyrylcholinesterase (BCHE) gene.

10. Butyryl-cholinesterase deficiency: A case report of delayed recovery after general anaesthesia.