Inheritance of very low serum dopamine β hydroxylase activity

R. M. Weinshilboum, H. G. Schorott, F. A. Raymond, W. H. Weidman, L. R. Elveback

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Serum dopamine β hydroxylase (DBH) activity was measured in blood samples obtained from 841 children, aged 6 to 12 yr. 227 adult subjects, and 114 relatives of children with serum DBH activity of less than 50 units. Approximately 4% of the children and 3% of the adult subjects tested had very low serum DBH activity (50 units or less). Because these subjects appeared to make up a separate subgroup within the population and because of a striking familial aggregation of subjects with very low enzyme activity, serum DBH activity was measured in blood obtained from members of 22 families of probands with very low serum enzyme activity. The results of sibship and pedigree analyses of the data were compatible with autosomal recessive inheritance of very low serum DBH activity. Unaffected parents of probands had serum DBH activity intermediate between that found in affected individuals and in a control population. No significant correlation of serum DBH activity with either systolic or diastolic blood pressure was found in this randomly selected population of children.

Original languageEnglish (US)
Pages (from-to)573-585
Number of pages13
JournalAmerican journal of human genetics
Issue number5
StatePublished - Dec 1 1975

ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)


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