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Dopamine-beta-hydroxylase (DBH) activity in serum was measured by spectrophotometric methods in 95 persons of a large family (HGAR 2), along with 27 polymorphic markers from blood, urine and saliva. The distribution of DBH activity, after appropriate transformation and age adjustment, showed a significantly better fit to a mixture of two normal distributions than a single normal distribution. Pedigree segregation analyses showed evidence of a possible major gene governing low levels of DBH activity, segregating in this family in a recessive fashion. Linkage analyses between that major locus and the 27 polymorphic markers showed no significant lod scores favoring linkage. The highest lod score obtained was 0.81 with Lp at zero recombination fraction. In addition, published data on DBH activity measured by radiochemical assays on 22 families with 161 members were reanalyzed as a quantitative trait, with appropriate correction for ascertainment bias. The results were similar to that of HGAR 2, corroborating the existence of a major locus for DBH activity.
R C Elston, and
K K Namboodiri, and
C G Hames
July 1987,
American journal of medical genetics,
R C Elston, and
K K Namboodiri, and
C G Hames
March 1990,
American journal of medical genetics,
R C Elston, and
K K Namboodiri, and
C G Hames
March 1971,
Circulation research,
R C Elston, and
K K Namboodiri, and
C G Hames
June 1991,
Genomics,
R C Elston, and
K K Namboodiri, and
C G Hames
January 1988,
American journal of human genetics,
R C Elston, and
K K Namboodiri, and
C G Hames
January 1980,
Nephron,
R C Elston, and
K K Namboodiri, and
C G Hames
July 1974,
Research communications in chemical pathology and pharmacology,
R C Elston, and
K K Namboodiri, and
C G Hames
March 1978,
Psychosomatic medicine,
R C Elston, and
K K Namboodiri, and
C G Hames
January 1987,
Psychoneuroendocrinology,
R C Elston, and
K K Namboodiri, and
C G Hames
June 1982,
Science (New York, N.Y.),
