BIO1030 Lab 4

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Part 1: Chromosomes 1.Define the terms aneuploidy, trisomy, and monosomy. Give an example of a genetic disorder caused by each of a trisomy and a monosomy. Are you able to detect the presence of any of these with a karyotype? Why or why not? (6 marks) Aneuploidy: Aneuploidy is described as a chromosomal number that is not a multiple of the haploid set and is linked to defects in cell function, such as cancer, and organismal development, as in Down syndrome (DS) and mosaic variegated aneuploidy (MVA) (Orr et al. , 2015 ) Trisomy: Trisomy is a chromosomal disorder marked by the presence of an extra chromosome. A person with trisomy has 47 instead of 46 chromosomes. Down syndrome, Edward syndrome and Patau syndrome are some genetic disorders caused by trisomy. Apart from trisomy 21, the most clinically significant autosomal trisomy’s are trisomy 13 (Patau syndrome) and trisomy 18 (Edwards syndrome). Trisomy can be detected with karyotype. Trisomy 13 affects roughly one out of every 10,000 newborns, and trisomy 18 affects about one out of every 6,000 live births (Chen et al., 2011). A trisomy is generally indicated by a plus sign in the karyotype, for example +7 meaning trisomy 7 (Elaine S. & Jaffe MD, 2017). Monosomy: Monosomy is the absence of one chromosome from a pair of chromosomes, as a result of which a clone would have 45 chromosomes. Monosomy can be detected with karyotype. A monosomy is generally indicated by a minus sign in the karyotype for example - 6 meaning monosomy 6 (Elaine S. & Jaffe MD, 2017). 2.Define deletion, duplication, inversion, and translocation as they relate to chromosome structure. Are you able to detect these with a karyotype? Why or why not? (6 marks) Deletion: Gene deletion is applied to deduce enzyme function based on the increase in substrates and decrease in product in mutants with gene deletion. Deletion can be detected with a karyotype (Cai & Xiao, 2021). Duplication: Duplication is a form of mutation in which one or more copies of a gene or chromosome region are produced. Duplication occurs when more than one copy of a length of DNA exists. This can happen in a variety of situations. Extra copies of the gene can cause cancer during the disease process. Genes can also duplicate themselves through evolution, with one copy continuing the original function and the other producing a new one. Whole chromosomes are sometimes duplicated, and this causes sickness in people (National Human Genome Research Institute , 2019 ). Duplication can be detected with a karyotype.

Inversion: When a chromosome breaks at two locations and the portion bounded by the breakpoints is reinserted in the reversed orientation, it is called an inversion. Inversions are a type of chromosomal mutation that can occur in a variety of ways. Inversions are divided into two types: pericentric and paracentric. Pericentric inversions include a centromere, whereas paracentric inversions do not (Kirkpatrick, 2010) . Inversion can be detected with a karyotype. Translocation: The International Union for Conservation of Nature (IUCN) defines translocation as "the movement of living organisms from one area with free release in another" (IUCN 1987, as cited in Weeks et al., 2011). Translocation can be detected with a karyotype. Part 2: Cells 3.Include your labelled drawing from your Allium squash (4 marks). Don’t forget a scale bar and caption.

Part 3: Mitosis

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4.What are the various phases that make up the cell cycle? Briefly explain what happens during each phase. (4 marks) G1 (gap phase 1), S (DNA synthesis), G2 (gap phase 2), and M (mitosis/meiosis) are the four phases of the cell cycle (Tan et al., 2017). - When a cell is in the G1 phase, it grows, starts to synthesize proteins, and begins transcription of cell cycle control genes (cyclins, for instance). It also conducts a series of checks prior to DNA synthesis (Tan et al., 2017). - S-phase is when the cell replicates its entire genome (Tan et al., 2017). - As the cell enters the G2 phase, it prepares for division and checks for errors in DNA duplication and size (Tan et al., 2017). - At M-phase, the nuclear envelope is broken down and the chromatin is condensed, resulting in two diploid cells (Tan et al., 2017). 5.Score 50 Allium sp. root tip cells and 50 Ascaris sp. cells and fill in Table 1 below (2 marks). 6.Calculate the mitotic index for each (2 marks). HINT: the indices should be in the form of decimal. Table 1: Number of cells in each stage of the cell cycle for a plant ( Allium sp.) and an animal (fish). Stage Allium sp. Fish blastodisc Interphase ( b ) 26 37 Prophase 8 5 Metaphase 0 6 Anaphase 5 2 Telophase 11 0 Total cells in mitosis ( a ) 24 13 Total cells ( a + b ) 2500 2500 Mitotic index a ( a + b ) 0.48 0.26 7. How does mitosis in animal cells differ from mitosis in plant cells? State a few observations you made about how the two are different as you looked at the Allium and fish blastodisc slides in lab and do some research to further elaborate on how mitosis is different in plants and animals (5 marks) .

The primary difference between animal and plant mitosis is that in animal mitosis, the mitotic spindle is created with the assistance of two centrioles, but in plant mitosis, the mitotic spindle is generated without the assistance of any centrioles (Lakna, 2017). Plant cell Mitosis is the process by which a single-parent nucleus of a plant cell divides into two identical daughter nuclei. The genetic material that has been reproduced is stored in the daughter nuclei. Plant cells undergo mitosis in the meristem area of the plant. Prophase, metaphase, anaphase, and telophase are the four stages of the process ( Difference Between Mitosis in Plant Cell and Animal Cell (With Table) – Ask Any Difference , n.d.) . Mitosis in animal cell is the process by which a single-parent nucleus of an animal cell divides into two identical daughter nuclei. The replicated chromosomes are found in the daughter nuclei. In animal cells, mitosis occurs across the entire body. Mitosis can take place in any part of an animal's body. The procedure also follows the same four steps as in the case of plant cells ( Difference Between Mitosis in Plant Cell and Animal Cell (With Table) – Ask Any Difference , n.d.) References Cai, S., & Xiao, H. (2021). Gene Deletion - an overview | ScienceDirect Topics . Www.sciencedirect.com. https://www.sciencedirect.com/topics/biochemistry-genetics- and-molecular-biology/gene-deletion Chen, E. Z., Chiu, R. W. K., Sun, H., Akolekar, R., Chan, K. C. A., Leung, T. Y., Jiang, P., Zheng, Y. W. L., Lun, F. M. F., Chan, L. Y. S., Jin, Y., Go, A. T. J. I., Lau, E. T., To, W. W. K., Leung, W. C., Tang, R. Y. K., Au-Yeung, S. K. C., Lam, H., Kung, Y. Y., & Zhang, X. (2011). Noninvasive Prenatal Diagnosis of Fetal Trisomy 18 and Trisomy 13 by Maternal Plasma DNA Sequencing. PLoS ONE , 6 (7), e21791. https://doi.org/10.1371/journal.pone.0021791 Difference Between Mitosis in Plant Cell and Animal Cell (With Table) – Ask Any Difference . (n.d.). Askanydifference.com. https://askanydifference.com/difference-between- mitosis-in-plant-cell-and-animal-cell/ Elaine S., & Jaffe MD. (2017). Monosomy - an overview | ScienceDirect Topics . Www.sciencedirect.com. https://www.sciencedirect.com/topics/biochemistry-genetics- and-molecular-biology/monosomy Kirkpatrick, M. (2010). How and Why Chromosome Inversions Evolve. PLoS Biology , 8 (9), e1000501. https://doi.org/10.1371/journal.pbio.1000501

Lakna. (2017, October 5). Difference Between Animal and Plant Mitosis | Definition, Process, Features . Pediaa.com. https://pediaa.com/difference-between-animal-and-plant- mitosis/ National Human Genome Research Institute. (2019). Duplication . Genome.gov. https://www.genome.gov/genetics-glossary/Duplication Orr, B., Godek, K. M., & Compton, D. (2015). Aneuploidy. Current Biology , 25 (13), R538–R542. https://doi.org/10.1016/j.cub.2015.05.010 Tan, E. P., Duncan, F. E., & Slawson, C. (2017). The sweet side of the cell cycle. Biochemical Society Transactions , 45 (2), 313–322. https://doi.org/10.1042/BST20160145 Weeks, A. R., Sgro, C. M., Young, A. G., Frankham, R., Mitchell, N. J., Miller, K. A., Byrne, M., Coates, D. J., Eldridge, M. D. B., Sunnucks, P., Breed, M. F., James, E. A., & Hoffmann, A. A. (2011). Assessing the benefits and risks of translocations in changing environments: a genetic perspective. Evolutionary Applications , 4 (6), 709–725. https://doi.org/10.1111/j.1752-4571.2011.00192.x

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