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Module 9 Genetics

Ploidy refers to the number of sets of chromosomes in a cell. Most organisms are diploid, having two sets of chromosomes. Variations include monoploidy, polyploidy, and aneuploidy. Polyploidy can occur through autopolyploidy or allopolyploidy. Chromosomal abnormalities can be numerical, involving an extra or missing chromosome, or structural, involving changes in chromosome structure. Mutations are changes in DNA that can be caused by errors in DNA replication or exposure to mutagens, and can be somatic or germline.
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0% found this document useful (0 votes)
24 views11 pages

Module 9 Genetics

Ploidy refers to the number of sets of chromosomes in a cell. Most organisms are diploid, having two sets of chromosomes. Variations include monoploidy, polyploidy, and aneuploidy. Polyploidy can occur through autopolyploidy or allopolyploidy. Chromosomal abnormalities can be numerical, involving an extra or missing chromosome, or structural, involving changes in chromosome structure. Mutations are changes in DNA that can be caused by errors in DNA replication or exposure to mutagens, and can be somatic or germline.
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Module 9 Genetics

Structural Variation in Chromosome Number

A. What is ploidy?
● Ploidy refers to the number of sets of chromosomes in a cell. In most organisms,
chromosomes come in pairs, so the ploidy of the cell is the number of pairs.

Variations of Euploidy
● Monoploid (n): A cell or organism that has only one complete set of chromosomes.
Monoploidy is rare in higher organisms, but it is common in some plants and insects.
● Diploid (2n): A cell or organism that has two complete sets of chromosomes. Most
higher organisms, including humans, are diploid.
● Polyploid: A cell or organism that has more than two complete sets of chromosomes.
Polyploidy is common in plants, and some animals are also polyploid.
Polyploidy can occur in two ways:
● Autopolyploidy: This occurs when an organism has multiple sets of chromosomes that
are identical to each other. It usually arises from duplication of a single genome within
the same species.
● Allopolyploidy: This occurs when an organism has multiple sets of chromosomes that
are derived from different species. It usually arises from hybridization of two different
species, followed by chromosome doubling.
● Aneuploidy: This occurs when the number of chromosomes in a cell , doesn’t equal to
46. While this can happen sometime during your lifetime, more often, it occurs when the
number of chromosomes your child acquires from their biological parents doesn’t equal
46 due to an error in the creation of the egg or sperm. There can be an extra copy of a
chromosome (trisomy) or a missing copy of a chromosome (monosomy), making the
total number of chromosomes not a multiple of 23.
● In the somatic cells of aneuploidic organisms if the diploid number of chromosomes are
less by one or two chromosomes, the condition is called Hypoploidy.
● Monosomy is the condition in which organisms with hypoploidy lack only one
chromosome of a homologous pair, (2N-1).
● Nullisomy is the condition in which organism with hypoploidy lack two chromosomes of
a homologous pair, (2N-2)
● In the somatic cells of aneuploidic organisms if the diploid number of chromosomes is
more by one or two it is known as Hyperploidy.
● Trisomy is the condition in which hyperploidy organisms have an extra chromosome
(2N+1) in any one of the homologous pair of any group of chromosomes.
● Tetrasomy is a type of aneuploidy where there is a gain of extra two chromosomes of
the same type, (2N+2).
EXAMPLES OF DISEASE FOR MONOSOMY, NULLISOMY, TRISOMY AND
TETRASOMY

● Monosomy causes certain human disease such as Turner syndrome and Cri
du chat syndrome.
● Individuals with nullisomy are referred to as nullisomics.Nullisomy is caused by a
nondisjunction during cell division, particularly meiosis. Nondisjunction occurs
when the homologous chromosomes (or sister chromatids) failed to separate.
● Trisomy
● Down syndrome Edward syndrome or Trisomy 18 and Patau syndrome or
Trisomy 13 are the common forms of trisomy.
● Tetrasomy
● Tetrasomy 12p or Pallister-Killian syndrome
● Tetrasomy 22 or Cat eye syndrome
● XXXY syndrome or Klinefelter's syndrome
Chromosomal Abnormality

Chromosomal Abnormality - Chromosomal abnormalities refer to any changes, alteration, or


irregularities in the structure or number of chromosomes in an individual's cells.

Causes of chromosomal abnormalities

1. Errors during cell division - chromosomes fail to separate properly (nondisjunction).

2. Maternal age - increase with maternal age, especially for women over the age of 35,
increases the risk of chromosomal abnormalities of the offspring.

3. Teratogens - things to which a mother is exposed during the time of pregnancy such as
radiation, toxic chemicals, alcohol, tobacco, viruses, and medications.

Types of Chromosomal Abnormalities

A. Numerical Abnormalities
1. Aneuploidy - Imbalance in chromosome numbers. It refers to the presence of an extra copy
of a specific chromosome (trisomy) or to the absence of a single chromosome (monosomy).

Examples:
● Triple X syndrome (Trisomy X) - extra x chromosome in females
• Taller than average (No other unusual physical features)
• Weak muscle tone
• Learning disabilities
• Developmental delays

● Patau Syndrome (Trisomy 13)


• Facial abnormalities
• Central nervous system abnormalities
• Polydactyly
● Turner Syndrome (Monosomy X) Turner Syndrome
• Shorter than average, webbed neck, broad chest,
swelling of hands and feet
• Learning difficulties
• Loss of ovarian function

● Monosomy 22
• Narrow hairy forehead and low set ears.
• Delay in motor and mental development
• Growth abnormalities

2. Polyploidy - characterized by the presence of one or more


additional sets of chromosomes in an organism's cells. It is very
common in plants and rare in mammals, including humans.
However, it can occur in some mammalian tissues.

Examples:
● Triploid crops: banana, apple, ginger
● Tetraploid crops: maize, cotton, potato, cabbage, peanut,
● Hexaploid crops: , bread wheat, oat,
● Octaploid crops: strawberry, dahlia, , sugar cane

● Triploid Syndrome - either the


sperm or the egg has two full sets of
chromosomes, leading to a triploid
(3n) baby. In humans, triploid babies
will either miscarry or die within the
first year of life.

B. Structural Abnormalities

● Structural chromosome abnormalities occur


when part of a chromosome is missing, a part
of a chromosome is extra, or a part has
switched places with another part.
● Change to specific parts of chromosomes.
● The total number of chromosomes is typically
46 total per cell.
● This eventually leads to having too much or too little genetic material, which is a cause of
some birth defects.

1. Deletion
● PORTION OF CHROMOSOME DELETED, or taken
out, which can make that chromosome less functional.
● For example, when part of a short arm in chromosome
5 is deleted, this causes Cri-du-chat syndrome,
common symptoms of which are reduced head size
and high-pitched crying in infants.

2. Duplication
● PART OF CHROMOSOME DUPLICATED, resulting in
extra genetic material.
● This occurs in Charcot-Marie-Tooth disease type I,
which duplicates part of chromosome 17, causing
muscle weakness.

3. Inversion
● GENETIC MATERIAL FLIPPED, or flipped in the
opposite direction.
● Inversions do not often result in disease and most
commonly affect chromosome 2.
● Example demonstrated in insect, Ceolopa frigida
have a variation of chromosomal inversions that
allow species to create a series of physical
differences.

4. .Translocation
● PIECE OF ONE CHROMOSOME HAS BROKEN
OFF AND ATTACHED TO ANOTHER
CHROMOSOME.
● This type of rearrangement is described
as balanced if no genetic material is gained or lost in
the cell.
● If there is a gain or loss of genetic material, the
translocation is described as unbalanced.
● The most common example is a Robertosonian
translocation.
Mutation
Module 9: Chromosomal Aberrations and Mutation.

What is mutation?
● “Mutation”, refers to any change in the
nucleotide sequence as a result of failure of
the system to revert the change. A mutation
is a change in the DNA sequence of an
organism. Mutation are changes made to an
organism’s genetic material.
● Mutations are happening in our cells
all the time, but almost none of these affect
our health. This is very different than what
we often see in science fiction in movies. In
real life, a mutation is never so beneficial that
it turns a person into a superhero or does something bizarre like cause
them to grow wings. There are many reasons that mutations usually don't
have major consequences.

Causes of Mutation
● Mutations can result from errors in DNA
replication during cell division, exposure to
mutagens or a viral infection.
● Mutations have many possible causes. Some
mutations seem to happen spontaneously
without any outside influence. They can occur
when mistakes are made during DNA replication
or transcription. Other mutations are caused by
environmental factors. Anything in the environment that can cause a
mutation is known as a mutagen.

TYPES OF MUTATION
A. As to Affected Cell
1. Somatic Mutation
•It occurs in body cells.
•Variant is absent in gamete.
•They are not inherited but may affect the person during
their lifetime.
2. Germline Mutation
•It occurs in the reproductive cells of male and female.
•Variant is present in gamete.
•They are inherited and can affect the children that they create.

B. As to Nucleotide
1. Point Mutation- Only one of the three bases is replaced with a different
base.
2. Frameshift Mutation- One or more nucleotides is inserted into or deleted
from a DNA sequence.

Three Types of Point Mutation


1.Silent Mutation
•Occurs when the change in one or more base pairs does
not affect the functioning of the gene.
•Resulting protein not altered!
2. Missense Mutation
● Occurs when a change of a single base pair or a group of
base pairs result in the code for a different amino acid.
● Maybe functional or not functional!
Ex. Sickle Cell Disease (replacement of A by T makes valine
instead of glutamic acid.
3. Nonsense Mutation-
● Occurs when a change of a single base pair or a group of
base pairs results in a premature stop code in the gene.
● Unable to function!
● Ex. Cystic Fibrosis (493 amino acids are produced instead
of 1480).

What are Mutagens?

• Mutagen is a physical or chemical agent that causes


mutation that changes the genetic material, usually
DNA of an organism.
• Not all mutations are caused by mutagens only induced
mutations were caused by mutagens. Spontaneous
mutations are naturally occurring mutations.
• Mutagens causing cancer, are likely to be known as carcinogens.

Types of Mutagens
Mutagens are often classified based on their origin and their effects upon
DNA. There are three basic types of mutagens

1. Physical Agents: It includes high energy radiations such as gamma


rays, X- rays and alpha particles and increase in temperature.
2. Chemical Agents: They are of various types such as base analogs,
intercalating agents, and alkylating agents.
3. Biological Agents: It includes viruses, bacteria, and
transposons.
Physical Mutagenic Agent includes: • High Energy
Radiation
- High energy radiations are the primary mutagenic agent reported in
1927. UV rays, X-rays, alpha rays, neutrons, and other ionizing and
non-ionizing radiations are mutagenic. Usually, radiation directly damages
the DNA or nucleotide structure, which could be either lethal or
sub-lethal.
• Temperature
- Temperature is another mutagen that provokes mutations in our DNA. The
rise in temperature results in the breakage of hydrogen bonds present in the
DNA and it becomes denatured- two single-stranded DNA. Also, extreme heat
damages DNA and breaks the phosphodiester bonds too.
Chemical Mutagenic Agents

• Base Analogs
- In this the analogs of the nitrogenous bases gets incorporated in the DNA,
causing mutations.
• Intercalating Agents
- There are substances that insert themselves between two bases in one or
both strands of DNA double helix. For example - proflavin, acridine, and
ethidium bromide.
• Alkylating Agents
- They are the substances which adds alkyl group to the bases. For example
Methylmethane sulfonate (MMS), it adds alkyl group to guanine.
Biological Mutagenic Agent includes:
• Virus
- virus insert their DNA into our genome and disrupt the normal
function of DNA or a gene.
- Once it inserts DNA, the DNA is replicated transcribed and
translated viral protein instead of our own protein
• Bacteria
- Some bacteria also are dangerous for our DNA- cause inflammation. - It provokes
DNA damage and DNA breakage.

• Transposons
- They are non coding DNA sequences, jumps from one place to
another in a genome and influence function of genes.

ONCOGENES

An oncogene is a mutated gene that can cause cancer.

Before an oncogene becomes mutated, it is called a proto-oncogene which


encode proteins that function to stimulate cell division.
Cancer can arise when a proto-oncogene is mutated, changing it into an oncogene
and causing the cell to divide and multiply uncontrollably.

MECHANISMS THAT ACTIVATE ONCOGENES

Mutations

● Deletion or point mutation can lead to protein produced in normal


amounts but is hyperactive or loss of regulation and the normal protein is
overexpressed.

Gene Amplification

● An increase of the copy number for a specific chromosomal region.


This is associated with overexpression of amplified genes (hundreds of
copies of normally diploid genes).

Chromosome Rearrangement

● Involves translocation that can generate oncogenic fusion proteins


and also can cause the normal protein, the gene product, to be
overexpressed.

EXAMPLES OF ONCOGENES

An example of an oncogene is the HER2 gene that makes HER2 protein. This
protein helps control healthy breast cell division and growth. Extra copies of this
gene may lead to an excess of HER2 protein, which causes cells to grow more
quickly. The HER2 oncogene is found in some breast cancer and ovarian cancer
cells.

The RAS oncogene, another common oncogene, causes about 30 percent of


cancers, including in the lungs, colon and pancreas.

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