- Branching Tree Diagram
- genotypic tree ratio
- phenotypic tree ratio
- Chi-Squared Analysis $$X^2$$
- Tells you if your genes independently assort or are linked.
- Compare observed vs expected in each category.
Chromosome Locations
- p
- short-arm
- petite
- q
- long-arm
12p3
- Chromosome 12, arm p, band 3
Inheritance Patterns
Complete this with ratios offspring carriers vs. affected male to female.
- Autosomal
- Equal proportions unaffected/carrier/affected among different sexes.
- X-Linked
- Different proportions male vs. female affected.
- Autosomal Dominant
- ?
- Autosomal Recessive
- ?
- X-Linked Dominant
- ?
- X-Linked Recessive
- ?
Disease Examples
- Heterozygote Advantage
- ?
- Autosomal recessive genes
- Sickle Cell Disease
- Autosomal recessive
- HbB gene
-
- HbS is the variant allele.
-
- HbA is the mutant allele.
- Marfan's Syndrome
- Autosomal dominant.
- Cystic Fibrosis
- Autosomal recessive.
- CFTR gene.
- Mutation is a deleted 3 base pairs, 1 amino acid, that doesn't change the reading frame.
-
- Protein still expressed and not unviable, bind to sites, but doesn't function.
- Missense Mutation
- ???
- Phenylketonuria PKU
- Autosomal recessive
Cancer
- Autosomally Inherited Cancer Risk
- If tumor suppressor mutation is inherited, only need one mutation in the other homologous chromosome to cause cancer.