IMED2004 Study Guide - Final Guide: Heteroplasmy, Wild Type, Penetrance
Document Summary
If have mutation in mito and replicated. Over prolif and cell diff and random distribution, end up of big mix of heteroplasmic: some with more/less mito mutants. Disease occurs in both males and females. What pattern of genetic transmission is characterized by no transmission from m, maternal inheritance. All genes present in mitochondria come from mother. Sperm mitochondria are generally eliminated from the embryo. Thus, mtdna is inherited from the mother. Females pass on mitochondrial mutations to their children. Females pass on disease to all of their children. Affected males do not pass on the disease. Can sequence individual and look at nuclear and mito genome. Proportion of individuals with a mutation that develop phenotype. The percentage of individuals with a particular genotype that actually displays the phenotype associated with the genotype. 100% of people with causative mutation have/get disease. Exhibit the signs and symptoms associated with genotype! Dominant alleles that are either not always, or partially expressed.
