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Literature DB >> 4054903

Plasma cholinesterase variants. Family studies of the E1k gene.

Abstract

The use of RO2-0683 as differential inhibitor has shown that 13% of 181 heterozygotes, believed to be E1uE1a, are in fact E1aE1k. The results indicate that slightly more than 1% of the British population could be homozygote E1kE1k. Analysis of 47 families segregating the E1aE1k phenotype in more than 2 blood relatives is restricted by the inability to differentiate the genotypes E1uE1k and E1kE1k from E1uE1u and E1uE1f.

Entities: Chemical Gene

Mesh：

Substances：
Cholinesterases

Year: 1985 PMID： 4054903 DOI： 10.1159/000153581

Source DB: PubMed Journal: Hum Hered ISSN： 0001-5652 Impact factor: 0.444

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Cited

6 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. 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

3. 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

Plasma cholinesterase variants. Family studies of the E1k gene.

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

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

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

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

5. Butyrylcholinesterase K variant is genetically associated with late onset Alzheimer's disease in Northern Ireland.

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