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Assignment 1 2022
Molecular Genetics of Human Cancer (The University of Western Ontario)
Studocu is not sponsored or endorsed by any college or university
Assignment 1 2022
Molecular Genetics of Human Cancer (The University of Western Ontario)
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Assignment #1.
Biochem, Pathology 4450A 2022
Course Coordinator/Instructor: M. Hallett
The assignment should be uploaded to OWL by midnight of the due date listed on the OWL
website (or course syllabus page). Please upload one document; if you have, for example,
hand-drawn figures, please take a photo of them and combine them into one diagram. We
recommend you making a copy of this document and include your answers here.
Scored out of 100.
Basic biology, a quick review
.
Question 1 [29 marks]:
Using Chapters 1 and 2 of Weinberg “The biology of cancer” or other online resources, answer
the following questions. Brief answers please. 1-2 sentences at most unless stated otherwise.
1.1: With a little diagram/cartoon using nucleotides of your choice, show an example of a
homozygous site and an example of a heterozygous site at a locus of a genome.
Homozygous: 3’-ATCGATCG-5’ and 3’-ATCGATCG-5’
Heterozygous: 3’-ATCGATCG-5’ and 3’-CGCGATCG-5’
1.2: Draw a little diagram depicting a paternal pairs of chromosomes and a maternal pair of
chromosomes where both have at least one homozygous site in common and at least one
heterozygous site in common. Now include a site that is homozygous in the paternal
chromosome but not the maternal, and vice versa.
1.3: Building on 1.2, drawn an example of a child chromosome pairs where the child has
inherited one maternal and one paternal chromosome. Make sure your figure shows a situation
where the child chromosome has a site where the nucleotide combination (the pair of
nucleotides inherited from the parents at the site) does not exist in either parent chromosome
(neither parent has exactly that pair of nucleotides).
1.4: Draw a little diagram depicting the euploid karyotypic state, and then show an example of
aneuploidy. (Doesn’t need to use the chromosomes from the previous questions.)
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1.5: Draw an example of a point mutation at a site in a chromosome that was homozygous
mutation in the germline.
1.6: Draw an example/cartoon of a translocation between two chromosomes.
1.7: Likewise draw an example of a reciprocal translocation.
1.8: What is meant by normal cellular morphology? normal tissue morphology? Does abnormal
cellular morphology imply abnormal tissue morphology? Vice versa?
Cell morphology can be described by the shape and size of a cell, where normal is relative to
the cell type (for a healthy person). Tissue morphology can be describe by the shape and
texture of a tissue, where normal is also relative to the tissue type (for a healthy person). Any
changes to either cell or tissue morphology implies changes to the other.
1.9: What is the extracellular matrix (ECM)? What sorts of entities/chemicals/proteins etc. can
be found there? What is its role in normal healthy tissue?
The ECM is a large network of proteins and other molecules that surround, support, and give
structure to cells and tissues in the body. The ECM consists of extracellular macromolecules
and minerals, such as collagen, enzymes, glycoproteins, hydroxyapatite, etc.
1.10: What is meant by cell-cell contacts? What proteins mediate cell-cell contacts in epithelial
cells?
Cell to cell contacts occur when interactions happen between the cell surfaces of different cells,
which facilitate functions for multicellular organisms. Epithelial cells have tight junctions
mediated by transmembrane proteins. Adherens junctions of epithelial cells possess E-cadherin,
which give the cell its shape. There are also desmosomes and gap junctions, which bind the
cells to the basal membrane and facilitate communication, respectively.
1.11: What is the cell-of-origin in a carcinoma? lymphoma?
Epithelial cells for carcinoma and an lymphocyte of lymphoma, which include natural killer cells,
T cells and B cells.
1.12: Draw an figure with a gene with a gene promoter that includes two introns and three
exons. Include a transcription factor in the drawing binding to the promoter.
1.13: What is the difference between a fully differentiated cell, a progenitor cell and a stem cell?
The difference between the three cell types is their stage of differentiation and their specificity. A
stem cell has little specificity and can differentiate into various cells. However, a progenitor cell
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