Achondroplasia is a form of dwarfism that is inherited in humans as autosomal do

Question

Achondroplasia is a form of dwarfism that is inherited in humans as autosomal dominant. A survey in a small country showed that, within a two-year period, there were 12 children with normal parents born with this disorder out of a total of 420,000 births. What is the mutation rate mutations/locus/generation? An operon is controlled by a repressor. When a small molecule binds the repressor, it is released from binding t the operator. The operon is never expressed if a mutation prevents the small molecule from binding to the repressor. The type of control illustrated is A functional telomerase in a liver cell is an example of a _____________ mutation. Suppose that in a population, there are 460 individuals with genotype AA, 280 with Aa and 260 with aa. What is the frequency of A in this gene pool? Which of the following terms is least relevant to the assembly of basal transcription apparatus for transcription?

Explanation / Answer

Shortening of telomeres act as a biological clock as it limits the number of replication of the cell chromosomes. Somatic cells don’t have the enzyme telomerase. In researches it has been shown that point mutations in the telomerase reverse transcriptase (TERT) promoter are linked to reactivation of telomerase, (Sumit Borah, 2015). So a functional telomerase in the liver is an example of point mutation.

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