CRUISE SCHOOL, ADDIS ABABA

Gabriel Campus
Biology Assignment
Topic: Laboratory Report
Group members:
1. Abubeker Mohammed
2. Bezawit Alemayehu
3. Christlobe Dereje
4. Eyerusalem Haymanot
5. Kalkidan Tadesse
6. Kidest Eyerus
7. Meklit Shemeket
8. Menal Ahmed
9. Natanim Assefa
10. Nazrawit Amdebrehan
11. Rediet Debebe
12. Rohobot Mulugeta
13. Sekina Mubarek
Submitted to: Mr. Eyorab
 Genetic Disorders
Genetic disorders occur when a mutation affects your genes. Carrying the
mutation doesn’t always mean you’ll end up with a disease. There are many
types, including single-gene, multifactorial and chromosomal disorders.

What are genetic disorders?

Genetic disorders occur when a mutation (a harmful change to a gene, also

known as a pathogenic variant) affects your genes or when you have the wrong
amount of genetic material. Genes are made of DNA (deoxyribonucleic acid),
which contain instructions for cell functioning and the characteristics that make
you unique.

You receive half your genes from each biological parent and may inherit a gene
mutation from one parent or both. Sometimes genes change due to issues within
the DNA (mutations). This can raise your risk of having a genetic disorder. Some
cause symptoms at birth, while others develop over time.

Genetic disorders can be:

Chromosomal: This type affects the structures that hold your genes/DNA within
each cell (chromosomes). With these conditions, people are missing or have
duplicated chromosome material.

Complex (multifactorial): These disorders stem from a combination of gene

mutations and other factors. They include chemical exposure, diet, certain
medications and tobacco or alcohol use.
Single-gene (monogenic): This group of conditions occurs from a single gene
mutation.

What are common genetic disorders?

There are many types. They include:

Chromosomal disorders

 Down syndrome (Trisomy 21).

 FragileX syndrome.
 Klinefelter syndrome.
 Triple-X syndrome.
 Turner syndrome.
 Trisomy 18.
 Trisomy 13.

Multifactorial disorders

 Late-onset Alzheimer’s disease.

 Arthritis.
 Autism spectrum disorder, in most cases.
 Cancer, in most cases.
 Coronary artery disease.
 Diabetes.
 Migraine headaches.
 Spina bifida.
 Isolated congenital heart defects.

Monogenic disorders
  Cystic fibrosis.
 Deafness that’s present at birth (congenital).
 Duchenne muscular dystrophy.
 Familial hypercholesterolemia, a type of high cholesterol disease.
 Hemochromatosis (iron overload).
 Neurofibromatosis type 1 (NF1).
 Sickle cell disease.
 Tay-Sachs disease.

Down Syndrome

Down syndrome is a genetic condition in which the baby has an extra copy of
chromosome 21. It's not an illness or disease. There are 3 types of Down
syndrome.

Trisomy 21-Most people with Down syndrome have trisomy 21. This is when they
are born with 3 copies of chromosome 21 in every cell (most people have only 2
copies).

Translocation Down syndrome- Some people with Down syndrome are born with
part or all of the chromosome 21 attached (translocated) to another
chromosome.

Mosaic Down syndrome- This is when only some of the person's cells have an
extra copy of chromosome 21.

Klinefelter syndrome
Klinefelter syndrome is a congenital (from birth) condition in which males are
born with one or more extra X chromosomes. It is not inherited. Klinefelter’s
syndrome is also known as XXY syndrome.

Cystic fibrosis

Cystic fibrosis (CF) is a genetic disease that mostly affects your lungs and digestive
system. It results from a change in a particular gene. CF causes you to get a lot of
very thick and sticky mucus in your: lungs, airways, digestive system. This causes
problems with: digesting your food, repeated lung infections, which can
permanently damage your lungs.

Duchenne muscular dystrophy

Duchenne muscular dystrophy, or DMD, is a genetic condition. It causes a gradual

loss of muscle function that affects everyday movements and activities.

Muscular dystrophies are conditions that cause progressive (gradual) wasting

(decrease in size and strength) of the muscles. DMD is the most common type of
muscular dystrophy in children. It mainly affects male children and occasionally
affects female children.

Cleft lip and cleft palate

Cleft palate is a common birth condition. It can occur alone or as part of a genetic
condition or syndrome. Symptoms arise from the opening in the mouth. They
include difficulty speaking and feeding.
A cleft palate is an opening or split in the roof of the mouth that occurs when the
tissue doesn't fuse together during development in the womb. A cleft palate often
includes a split (cleft) in the upper lip (cleft lip) but can occur without affecting the
lip.

Are there other types of genetic disorders?

Genetic disorders may also cause rare diseases. This group of conditions affects
fewer than 200,000 people in the U.S. According to experts, there may be as
many as 7,000 of these diseases.

 Rare genetic disorders include:

 AA amyloidosis.
 Adrenoleukodystrophy (ALD).
 Ehlers-Danlos syndrome.
 Mitochondrial diseases.
 Usher syndrome.

Symptoms and Causes

What are the causes of genetic disorders?

To understand genetic disorder causes, it’s helpful to learn more about how your
genes and DNA work. Most of the DNA in your genes instructs the body to make
proteins. These proteins start complex cell interactions that help you stay healthy.

When a mutation occurs, it affects the genes’ protein-making instructions. There

could be missing proteins. Or the ones you have do not function properly.
Environmental factors (also called mutagens) that could lead to a genetic
mutation include:

 Chemical exposure.
  Radiation exposure.
 Smoking.
 UV exposure from the sun.

What are the symptoms of genetic disorders?

Symptoms vary depending on the type of disorder, organs affected and how
severe it is. You may experience:

 Behavioral changes or disturbances.

 Breathing problems.
 Cognitive deficits, when the brain can’t process information as it should.
 Developmental delays that include challenges with speech or social skills.
 Eating and digestive issues, such as difficulty swallowing or an inability to
process nutrients.
 Limb or facial anomalies, which include missing fingers or a cleft lip and
palate.
 Movement disorders due to muscle stiffness or weakness.
 Neurological issues such as seizures or stroke.
 Poor growth or short stature.
 Vision or hearing loss.

Discussion

- How do genes influence your life?

Genes contain the recipes for who you are, and they influence your life from the
moment you are conceived. They have a strong influence over how you look and
the color of your eyes, hair and skin.

But genes don't switch off the moment you're born. They also play a part in your
personality and how you think about the world. They continue to influence your
health and wellbeing for as long as you live.

They do this by instructing the body to produce the proteins that are used by
cells. These proteins will help you to do things such as grow, digest food and
think. Some will help protect you against cancer, while others will allow cancer to
grow.

The way your genes work can be influenced by many different things, such as
your way of life or the environment around you. This field of knowledge is known
as epigenetics.

Most genetic disorders occur by chance. Genes and chromosomes are complex,
and they often get changed slightly in the formation of new life.

Some disorders are passed down from a parent. If a parent has a damaged gene
or chromosome, and that is passed down to a child, the child's health might be
affected. Others come about through changes in a person's DNA during their life.
For example, radiation from the sun can damage a person's DNA in a way that it
allows skin cancer to develop.