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Literature DB >> 416211

E1k, another quantitative variant at cholinesterase locus 1.

Abstract

Two families segregating for the atypical (E1a) allele at cholinesterase locus 1 are described. Unusual results for dibucaine inhibition led to the recognition of a new allele (E1k) also segregating in these families. The enzymatic and immunological data are consistent with the hypothesis that E1k causes reduction of 'usual' (E1u) molecules by about 33%. Whether the reduction of E1u caused by E1k is caused by retarded synthesis or accelerated degradation of serum cholinesterase remains to be determined.

Entities: Chemical Disease Gene Mutation

Mesh：

Substances：
Cholinesterases
Dibucaine

Year: 1978 PMID： 416211 PMCID： PMC1012819 DOI： 10.1136/jmg.15.1.27

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

7 in total

1. New allele at cholinesterase locus 1.

Authors: P J Garry; A A Dietz; T Lubrano; P C Ford; K James; H M Rubinstein
Journal: J Med Genet Date: 1976-02 Impact factor: 6.318

2. A 'silent' pseudo-cholinesterase gene.

Authors: J LIDDELL; H LEHMANN; E SILK
Journal: Nature Date: 1962-02-10 Impact factor: 49.962

3. 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

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

Authors: A Yoshida; A G Motulsky
Journal: Am J Hum Genet Date: 1969-09 Impact factor: 11.025

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

Authors: H M Rubinstein; A A Dietz; T Lubrano; P J Garry
Journal: J Med Genet Date: 1976-02 Impact factor: 6.318

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

Authors: H M Rubinstein; A A Dietz; L K Hodges; T Lubrano; V Czebotar
Journal: J Clin Invest Date: 1970-03 Impact factor: 14.808

7. Increased plasma cholinesterase activity and succinylcholine resistance: a genetic variant.

Authors: H W Neitlich
Journal: J Clin Invest Date: 1966-03 Impact factor: 14.808

7 in total

24 in total

1. DNA mutation associated with the human butyrylcholinesterase K-variant and its linkage to the atypical variant mutation and other polymorphic sites.

Authors: C F Bartels; F S Jensen; O Lockridge; A F van der Spek; H M Rubinstein; T Lubrano; B N La Du
Journal: Am J Hum Genet Date: 1992-05 Impact factor: 11.025

2. Identification of the E1fE1k cholinesterase genotype.

Authors: A M Burgess
Journal: J Med Genet Date: 1988-08 Impact factor: 6.318

3. A PCR based method to determine the Kalow allele of the cholinesterase gene: the E1k allele frequency and its significance in the normal population.

Authors: D Gaffney; R A Campbell
Journal: J Med Genet Date: 1994-03 Impact factor: 6.318

4. A new detection method for the K variant of butyrylcholinesterase based on PCR primer introduced restriction analysis (PCR-PIRA).

Authors: K Shibuta; M Abe; T Suzuki
Journal: J Med Genet Date: 1994-07 Impact factor: 6.318

E1k, another quantitative variant at cholinesterase locus 1.

1. New allele at cholinesterase locus 1.

2. A 'silent' pseudo-cholinesterase gene.

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

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

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

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

7. Increased plasma cholinesterase activity and succinylcholine resistance: a genetic variant.

1. DNA mutation associated with the human butyrylcholinesterase K-variant and its linkage to the atypical variant mutation and other polymorphic sites.

2. Identification of the E1fE1k cholinesterase genotype.

3. A PCR based method to determine the Kalow allele of the cholinesterase gene: the E1k allele frequency and its significance in the normal population.

4. A new detection method for the K variant of butyrylcholinesterase based on PCR primer introduced restriction analysis (PCR-PIRA).

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

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

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

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

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

10. Frequency and enzyme activity of the butyrylcholinesterase K-variant in a Turkish population.