Question

In an infinitely large, diploid, random-mating population, we observe the frequency of nonsense mutations is equal to 10^-4 in a gene.

A) If we assume the nonsense mutations cause complete infertility and are completely dominant, what is the nonsense mutation rate per gene per generation? (2 points)

B) If we assume the nonsense mutations cause complete infertility but are complete recessive, what is the nonsense mutation rate? (2 points)

Answer 1

A) Infertility is a severe problem for couples wishing to have children. In 20–70% of these cases, the cause for not being able to achieve pregnancy is male infertility. The most clinically severe form is azoospermia, which affects 10–16% of all infertile males .

A) Nonsense mutations representing about 10% of the mutations responsible for genetic related pathologies, attracted the attention of researchers and industries to specifically correct them. Various strategies have been developed in order to correct nonsense mutations. Since nonsense mutations are not purely patient specific and are found in various pathologies, strategies to correct nonsense mutations represent more an example of targeted therapies than a case of personalized medicine. Some of these strategies are nonsense mutation-specific, and some can apply to different categories of mutations. Finally, some will affect the genomic DNA and some will target the RNA only, excluding the ethical question of heredity.