BIO1030 Lab 4

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1030

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Biology

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Feb 20, 2024

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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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