INHERITANCE OF LOW ERYTHROCYTE CATECHOL-O-METHYLTRANSFERASE ACTIVITY IN MAN

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  • 1 January 1977
    • journal article
    • research article
    • Vol. 29  (2) , 125-135
Abstract
Catechol-O-methyltransferase [COMT] activity was measured in blood obtained from 373 randomly selected subjects aged 16-18, 262 consecutive adult blood donors, and 201 1st-degree relatives of subjects with RBC [red blood cell] COMT activity of less than 8 U [units]. 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 1st-degree relatives of probands with low erythrocyte enzyme activity in 48 families. The results of segregation analyses 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.