Large scale changes in chromosomes, be they rearrangements, mutations or alteration in copy number, have critical impacts. In humans, these changes contribute to a number of clinical syndromes, underlie the uncontrolled growth of cancer cells, and are a major driving force in evolution. Please answer the following questions.
(a) At what point in time (cell cycle) do these breakages and rearrangements mostly occur? What factors might influence rearrangements and breakages?
(b) What techniques are available to study chromosomal breakages and rearrangements? Name and describe 2 methods and note what each can identify or demonstrate and any limitations.
(c) Offer a brief overview of the types of chromosomal rearrangements (e.g. changes in copy number, rearrangements such as translocations)
Large scale changes in chromosomes, be they rearrangements, mutations or alteration in copy number, have critical impacts. In humans, these changes contribute to a number of clinical syndromes, underlie the uncontrolled growth of cancer cells, and are a major driving force in evolution. Please answer the following questions.
(a) At what point in time (cell cycle) do these breakages and rearrangements mostly occur? What factors might influence rearrangements and breakages?
(b) What techniques are available to study chromosomal breakages and rearrangements? Name and describe 2 methods and note what each can identify or demonstrate and any limitations.
(c) Offer a brief overview of the types of chromosomal rearrangements (e.g. changes in copy number, rearrangements such as translocations)
