E1k, another quantitative variant at cholinesterase locus 1.

H M Rubinstein; A A Dietz; T Lubrano

doi:10.1136/jmg.15.1.27

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E1k, another quantitative variant at cholinesterase locus 1.

H M Rubinstein·A A Dietz·T Lubrano

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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.

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Cholinesterases Dibucaine Female Genes Genetic Variation Humans Immunodiffusion Male Pedigree Phenotype Case Reports Journal Article

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H M Rubinstein, A A Dietz, T Lubrano. 1978. E1k, another quantitative variant at cholinesterase locus 1.. https://doi.org/10.1136/jmg.15.1.27

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