The Death of Baby Pierre
A Genetic Mystery
Department of Biological Sciences
University at Buffalo
This directed case study on a genetic disorder was developed for an exam on genetics for a general biology course. The case is based on an article by scientist and author Jared Diamond titled “Founding Fathers and Mothers” that appeared in Natural History magazine in June 1988. In the article, Diamond illustrates the significance of the “founder effect” in small isolated populations like the one described in this case.
- Describe basic mechanisms of genetic inheritance, specifically the difference between a recessive and a dominant trait.
- Understand the rules governing the inheritance of dominant, recessive, and sex-linked disorders and be able to apply them to analyze simple genetics problems.
- Determine, from a pedigree, the probability that an autosomal recessive disease will be passed on.
- Practice calculating allele frequencies using the Hardy-Weinberg equation.
KeywordsHereditary tyrosinemia; genetic disease; autosomal recessive disease; heterozygous; pedigree chart; genetic metabolic disorder; tyrosine; liver; kidneys; population genetics; founder effect; evolution; Quebec; Canada
Educational LevelHigh school, Undergraduate lower division
Type / MethodsDirected
Subject HeadingsGenetics / Heredity | Biology (General) | Evolutionary Biology |