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29. Which of the following statements is false? a) transversions are more common

ID: 191568 • Letter: 2

Question

29. Which of the following statements is false? a) transversions are more common than transitions b) missense mutations are likely to be hypomorphic c) frameshift mutations are more likely to be detrimental than point mutations d) hypomorphic mutations are usually haploinsufficient e) dominant negative mutations are hypermorphic 30. The pedigree below is for a rare hereditary disease of the autonomic nervous system in humans Which of the following modes of inheritance is most likely? a) sex-linked dominant b) sex-linked recessive c) autosomal dominant d) autosomal recessive e) there aren't enough data to tell

Explanation / Answer

29.

a. False ( reason: mutation in DNA due to base substitution are of two types,transition and transvertion.
In transitions are purine purine or pyrimidine pyrimidine interchanges occur, therefore involve bases of similar shape and so are easier to happen. While in transversions purine pyrimidine interchanges occur involving dissimilar structures, which are difficult to happen and are rarer in comparition to the transition)

b. True (reason: Missense mutations are a type of nonsynonymous mutation which when occur may cause partial loss of function).

c. True (Reasons: During a frameshift mutation, there may be an addition or deletion of a base which may change the entire reading sequence of the genetic code thus are hypermorphic in nature, while point mutation are generally silent or nonsynomymous mution which are hypomorphic in nature).

d. True (Hypomorphic mutation describes a mutation that causes a partial loss of gene function like reduced protein, RNA expression or reduced functional performance)

e. True ( Dominant negative mutation generally cause permanent loss of function)

30.

d. Autosomal recessive : ( Reason: The trait is not expressed in the parent but is expressed in the progeny, further the out of the 4 offsprings, only one is positive which is a male, this establishes that the parents are recessive carriers, and it is not transferred by sex chromosomes. Now studying the further pedigree, our assertion is established )

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