Article
Combined pedigree and twin family study to determine the sources of variation in serum biotinidase activity: the usefulness of multiple study designs.
American journal of medical genetics - 15 Aug 1993
Weissbecker K A, Wolf B, Eaves L J, Marazita M L, Nance W E
Abstract excerpt
Biotinidase, the enzyme responsible for recycling the vitamin biotin, is deficient in most individuals with late-onset multiple carboxylase deficiency. Based on clinical criteria, biotinidase deficiency appears to be inherited as an autosomal recessive trait; however, the inheritance of biotinidase serum activity as a quantitative trait has not been studied previously. In this study, both segregation analysis of...
Topics
- Amidohydrolases
- Analysis of Variance
- Biotinidase
- Chi-Square Distribution
- Diseases in Twins
- Female
- Genes, Dominant
- Genetic Variation
- Humans
- Likelihood Functions
- Male