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Topic 6 - Imperfect Cause Defect

Mitosis is the process by which cells duplicate their DNA and divide to produce two identical daughter cells. Errors during mitosis can lead to abnormalities in chromosome structure like deletions, inversions, and translocations, resulting in disorders and conditions like miscarriages, stillbirths, birth defects, infertility, and mental retardation. Failure of chromosomes to separate properly during mitosis causes aneuploidy, an abnormal number of chromosomes, which usually causes embryonic death but can also result in severe genetic disorders if the embryo survives.

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113 views

Topic 6 - Imperfect Cause Defect

Mitosis is the process by which cells duplicate their DNA and divide to produce two identical daughter cells. Errors during mitosis can lead to abnormalities in chromosome structure like deletions, inversions, and translocations, resulting in disorders and conditions like miscarriages, stillbirths, birth defects, infertility, and mental retardation. Failure of chromosomes to separate properly during mitosis causes aneuploidy, an abnormal number of chromosomes, which usually causes embryonic death but can also result in severe genetic disorders if the embryo survives.

Uploaded by

Syaza Izzah Athirah Bt Spaiee
Copyright
© © All Rights Reserved
We take content rights seriously. If you suspect this is your content, claim it here.
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IMPERFECT CAUSE DEFECT

The cells within living organisms have the ability to grow and reproduce through the
production of new cells. In order to ensure that an exact copy of the DNA is assigned to
the new cells, a process called mitosis takes place. Mitosis is a highly dynamic process,
aimed at separating identical copies of genomic material into two daughter cells. When
a new cell is needed, the DNA is copied and allocated equally to new cells; then the cell
splits in half (Hayashi and Karlseder, 2013). When any one of these intricate steps fails,
the results can be adverse for the cell and the whole organism. A failure of the mitotic
process generates cells that carry abnormal chromosome numbers.

Changes in Chromosome Structure


Although relatively rare, damage can occur to chromosomes during mitotic movement.
Sometimes a break occurs in a chromosome and a portion of it is lost, causing a
deletion. If the broken fragment then reattaches upside down, this is called an inversion.
Rarely, such fragments attach to a different chromosome, and lead to a translocation. A
number of human disorders are caused by chromosomal deletions, and, generally, their
phenotypes are more severe than those caused by duplications (Brewer et al., 1998).
Such errors in a growing embryo are primarily lethal, and lead to either miscarriages or
still births. However, some do survive, born with serious birth defects. Chromosome
rearrangements can cause ill health in human population, thus affect the infertility and
mental retardation being the dominant effects (Shakoori et al., 2017).

Changes in Chromosome Number


Nondisjunction is the result of failure of chromosomes to separate during mitosis. This
leads to new cells with either extra or missing chromosomes; a condition called
aneuploidy. These changes can occur during the formation of reproductive cells (eggs
and sperm), in early fetal development, or in any cell after birth. Human embryos with
aneuploidy rarely survive development; with only 0.3% of human aneuploidy
pregnancies producing a live birth. For those children born with aneuploidy, severe
genetic conditions result.

Mitotic Errors and Cancer


Cancer is some form of uncontrolled cell growth. The usual checkpoints of the cell cycle
do not work correctly, and cells progress and repeat mitosis when not needed.
Researchers find many cancer cells with a variety of chromosome irregularities such as
deletions, inversions and translocations.
Case Study Questions:

1. Discuss the failure of mitosis on the chromosome abnormalities.


2. Brief explain 3 common chromosome disorders cause by changes in
chromosome structure.
3. Brief explain 3 common chromosome disorders cause by changes in
chromosome number.
4. Explain how mitosis can cause cancer.
5. Explain the cell division of mitosis for each phases.

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