Segregation and linkage analyses of dopamine-beta-hydroxylase activity in a six-generation pedigree.
Serum dopamine-beta-hydroxylase (DBH) levels and 30 polymorphic markers were determined on 178 individuals of the HGAR 29 family, ascertained through six probands who had clinical and electrocardiographic evidence of myocardial infarction. Individuals in this pedigree with a history of heart attack had significantly lower levels of DBH, but this difference was partly confounded with age differences. Pedigree segregation analysis showed evidence of a codominant gene for DBH segregating in the family. Linkage analysis between the putative DBH locus and 30 polymorphic marker loci, assuming a codominant model, yielded a largest lod score of 0.53, with ABO at 20% recombination. Adding this to the lod scores obtained by Elston et al [1979] and Goldin et al [1982], we obtain combined lod scores of 2.49 and 2.50 at 0.0 and 10% recombination respectively.
D000017:ABO Blood-Group System / Q000235:genetics; D000328:Adult; D002648:Child; D004198:Disease Susceptibility; D004299:Dopamine beta-Hydroxylase / Q000097:blood / Q000235:genetics*; D005799:Genes, Dominant; D006801:Humans; D066298:In Vitro Techniques; D008126:Lod Score; D008297:Male; D009203:Myocardial Infarction / Q000201:enzymology / Q000235:genetics*; D010375:Pedigree; D011995:Recombination, Genetic
D000017:ABO Blood-Group System; D004299:Dopamine beta-Hydroxylase