Mitochondria
Monthly
Inheritance
Autosomal Dominant
Description:
POLG, TWNK, RRM2B, SLC25A4 all contain specific mutations that can be inherited in an autosomal dominant manner. The inheritance is autosomal since these genes are found on non sex chromosomes meaning both male and females have equal chance of inheriting the mutation and since it is dominant, only one copy of the mutation is required to show acquire the disorder
Chance of inheritance:
If among both parents only one has one dominant mutation, there is a 50% chance of each child acquiring the mutated gene and thus showing symptoms of CPEO.
Autosomal Recessive
Description:
Certain mutations of the POLG gene and the RRM2B gene require 2 alleles to express symptoms of CPEO making these mutations recessive. The inheritance is autosomal since these genes are found on non sex chromosomes meaning both male and females have equal chance of inheriting the mutation
Chance of inheritance:
If each parent carries one recessive mutation and one unmutated gene there is a 25% chance of a child having both mutated genes or having both unmutated genes and there is a 50% chance of the child being a carrier (has one mutated copy and one regular).
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Jewish_genetic_disorders | introduction_to_genetics. (n.d.). Retrieved January 01, 2018, from http://www.jnetics.org/jewish_genetic_disorders/introduction_to_genetics
Jewish_genetic_disorders | introduction_to_genetics. (n.d.). Retrieved January 01, 2018, from http://www.jnetics.org/jewish_genetic_disorders/introduction_to_genetics