Inheritance of low erythrocyte catechol O methyltransferase activity in man

R. M. Weinshilboum, F. A. Raymond

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202 Scopus citations


Catechol-O-methyltransferase activity was measured in blood obtained from 373 randomly selected subjects aged 16-18, 262 consecutive adult blood donors, and 201 first-degree relatives of subjects with RBC COMT activity of less than 8 U. The distribution of RBC COMT activity in a randomly selected population was apparently bimodal with a nadir at approximately 8 U. Of a randomly selected population, 23% had low RBC COMT activity (<8 U). Because of previous reports of a significant sibling-sibling correlation of RBC COMT activity and because of the presence of a subgroup of subjects with low enzyme activity, RBC COMT activity was measured in blood from first-degree relatives of probands with low erythrocyte enzyme activity in 48 families. The results of segregation analyses of the data were compatible with autosomal recessive inheritance of an allele for low RBC COMT activity. RBC COMT in blood samples from siblings of probands in these families also showed an apparent bimodal distribution.

Original languageEnglish (US)
Pages (from-to)125-135
Number of pages11
JournalAmerican journal of human genetics
Issue number2
StatePublished - 1977

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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