Manipulating genomes

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Question 1
Medium

Genetic modification is a rapidly developing field of medicine used to address hereditary disorders. Depending on the target cell type, therapeutic genetic modification is classified as either somatic or germ-line.

a.

Identify which classification of gene therapy (somatic or germ-line) results in genetic alterations that can be inherited by the patient's offspring, and explain why.

[2]
b.

Compare somatic and germ-line gene therapy with respect to:

  • The specific target cells that receive the therapeutic transgene.
  • The longevity and permanence of the therapeutic effect.
[2]
c.

When integrating a transgene into a host genome using viral vectors, insertion of the foreign DNA sequence can disrupt the expression of existing, non-targeted genes on that same chromosome.

Explain how the integration of an exogenous gene sequence can alter the expression or functioning of adjacent host genes.

[2]
d.

Severe Combined Immunodeficiency (SCID) caused by adenosine deaminase (ADA) deficiency is a recessive disorder. It can be treated by introducing a functional, normal copy of the ADA gene into the patient's hematopoietic stem cells.

In contrast, Spinocerebellar Ataxia Type 1 (SCA1) is a progressive neurodegenerative disorder caused by a dominant mutation in the ATXN1 gene. This mutation produces a toxic, misfolded form of the ataxin-1 protein that aggregates in cerebellar neurons.

Suggest why standard gene addition therapy (introducing a normal, functional copy of the ATXN1 gene) would not be an effective treatment for SCA1.

[2]

Manipulating genomes Questions

  1. A Level
  2. /Biology
  3. /Manipulating genomes