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Am J Hum Genet. Mar 1977; 29(2): 125–135.
PMCID: PMC1685255

Inheritance of low erythrocyte catechol-o-methyltransferase activity in man.


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 randoly selected populations was apparently bimodal with a nadir at approximately 8 U. Of a randomly selected population, 23% had low RBC COMT activity (less than 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 inheritence of an allele for low RBC COMT activity. RBC COMT in blood samples from siblings of probands inthese families also showed an apparent biomodal distribution.

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Selected References

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  • AXELROD J, TOMCHICK R. Enzymatic O-methylation of epinephrine and other catechols. J Biol Chem. 1958 Sep;233(3):702–705. [PubMed]
  • Axelrod J, Cohn CK. Methyltransferase enzymes in red blood cells. J Pharmacol Exp Ther. 1971 Mar;176(3):650–654. [PubMed]
  • Quiram DR, Weinshilboum RM. Catechol-o-methyltransferase in rat erythrocyte and three other tissues: comparison of biochemical properties after removal of inhibitory calcium. J Neurochem. 1976 Nov;27(5):1197–1203. [PubMed]
  • Weinshilboum RM, Raymond FA. Calcium inhibition of rat liver catechol-O-methyltransferase. Biochem Pharmacol. 1976 Mar 1;25(5):573–579. [PubMed]
  • Raymond FA, Weinshilboum RM. Microassay of human erythrocyte catechol-O-methyltransferase: removal of inhibitory calcium ion with chelating resin. Clin Chim Acta. 1975 Jan 20;58(2):185–194. [PubMed]
  • Weinshilboum RM, Raymond FA, Elveback LR, Weidman WH. Correlation of erythrocyte catechol-O-methyltransferase activity between siblings. Nature. 1974 Dec 6;252(5483):490–491. [PubMed]
  • Cohn CK, Dunner DL, Axelrod J. Reduced catechol-O-methyltransferase activity in red blood cells of women with primary affective disorder. Science. 1970 Dec 18;170(3964):1323–1324. [PubMed]
  • Gustavson KH, Wetterberg L, Bäckström M, Ross SB. Catechol-O-methyltransferase activity in erythrocytes in Down's syndrome. Clin Genet. 1973;4(3):279–280. [PubMed]
  • Gershon ES, Jonas WZ. Erythrocyte soluble catechol-O-methyl transferase activity in primary affective disorder. A clinical and genetic study. Arch Gen Psychiatry. 1975 Nov;32(11):1351–1356. [PubMed]
  • Wyatt RJ, Murphy DL, Belmaker R, Cohen S, Donnelly CH, Pollin W. Reduced monoamine oxidase activity in platelets: a possible genetic marker for vulnerability to schizophrenia. Science. 1973 Mar 2;179(4076):916–918. [PubMed]
  • Nies A, Robinson DS, Lamborn KR, Lampert RP. Genetic control of platelet and plasma monoamine oxidase activity. Arch Gen Psychiatry. 1973 Jun;28(6):834–838. [PubMed]
  • Weinshilboum RM, Schorott HG, Raymond FA, Weidman WH, Elveback LR. Inheritance of very low serum dopamine-beta-hydroxylase activity. Am J Hum Genet. 1975 Sep;27(5):573–585. [PMC free article] [PubMed]

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