Inheritance of human plasma dopamine‐β‐hydroxylase thermal stability

John P. Vuchetich, Joel Dunnette, Kathryn L. Lunetta, Richard M. Weinshilboum, R. Arlen Price, G. P. Vogler

Research output: Contribution to journalArticlepeer-review

3 Scopus citations


Although the structural gene for human dopamine‐β‐hydroxylase (DBH) has been cloned, the mechanism by which DBH physical properties and activity are regulated is not well understood. Previous reports have suggested that three‐allele or two‐locus models may account for the genetic regulation of these traits in human blood. It is an interesting challenge to determine the extent to which quantitative analyses will complement or guide molecular genetic studies. In this study we analyzed data on the physical property of DBH thermal stability and DBH activity in 230 individuals in 53 families in an attempt to clarify genetic mechanisms for the inheritance of these traits. Commingling and segregation analyses of the thermal stability data provided the first clear evidence of a major gene polymorphism for DBH thermal stability analyzed as a quantitative trait. Major gene transmission was supported within a mixed model (χ [3]2 = 13.39, P < .004). In keeping with earlier findings, similar analyses of DBH activity provided strong evidence of genetic transmission. However, in our data support for a major gene polymorphism was equivocal (χ (2)2 = 2.99, P = .22).

Original languageEnglish (US)
Pages (from-to)237-251
Number of pages15
JournalGenetic epidemiology
Issue number4
StatePublished - 1991


  • heritability
  • major gene
  • segregation

ASJC Scopus subject areas

  • Epidemiology
  • Genetics(clinical)


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