The document discusses various genetic disorders and diseases caused by deletions in DNA sequences during cell division. It provides background on cell division and how mutations can occur. Specific disorders from deletions mentioned include male infertility, Duchene muscular dystrophy, cystic fibrosis, and spinal muscular atrophy. Symptoms and effects of each are described. Deletion is defined as the loss of one or more nucleotides from a DNA segment.

1. DISORDERS AND DISEASES: CELL CYCLE
General Biology | First Semester

2. BACKGROUND INFORMATION
 Did you know that our body is made up of trillions of tiny building
blocks called cells that come together to form a complex tissues and
organs? Tissues and organs grow and repair through cell division
where a single parent cell divides to produce two identical daughter
cells. Deoxyribonucleic Acid provides the chemical instruction
manual or the blueprint for cell division. Each cell contains six feet of
DNA and it will be broken into 46 distinct packages of information.
And everytime a cell divides it must copy all these information and
the deliver an identical set of DNA to each one of its daughter cells.
But glitches in that process can give birth to abnormal cells that
misbehaves and fuel the development of diseases like cancer.

3. MUTATION
 A mutation is a change in the DNA sequence of an
organism. Mutations can result from errors in DNA
replication during cell division, exposure to mutagens
or a viral infection. Germline mutations (that occur in
eggs and sperm) can be passed on to offspring, while
somatic mutations (that occur in body cells) are not
passed on.

4. MISTAKES IN CELL DIVISION
 Mistakes during cell division frequently
generate changes in chromosome content,
producing aneuploid and polyploid progeny
cells.
 Polyploid cells may then undergo abnormal
division to generate aneuploid cells.
Chromosome segregation errors may also
involve fragments of whole chromosome.

5. DELETION
 A deletion, as related to genomics, is a type of mutation that
involves the loss of one or more nucleotides from a segment of
DNA. A deletion can involve the loss of any number of
nucleotides, from a single nucleotide to an entire piece of a
chromosome.
 Sometimes, during mitosis, the chromosome can be damaged. If
the chromosomes gets broken the fragments can be lost. If this
happens the genetic material, they contain is deleted.
 Deletions are responsible for an array genetic disorders,
including some cases of male infertility, Duchene mascular
dystrophy and cystic fibrosis, and spinal mascular atrophy, the
most common genetic cause of infant death.

6. THE DELETION PROCESS

7. ARRAY GENETIC DISORDERS CAUSED BY
DELETION:
1.) Male infertility – can be caused by low sperm production,
abnormal sperm function or blockages that prevent the delivery of
sperm. Illnesses, injuries, chronic health problems, lifestyle choices
and other factors may contribute to male infertility.

8. SYMPTOMS OF MALE INFERTILITY
 Problems with sexual functions.
 Pain, swelling or a lump in the testicle area.
 Recurrent respiratory infections.
 Inability to smell.
 Abnormal breast growth (gynecomastia).
 Decreased facial or body hair or other signs of a chromosomal or
hormonal abnormality.
 A lower than normal sperm count.
MALE(S) SUFFERING FROM MALE INFERTILITY:

9. 2.) Duchene Muscular Dystrophy and Cystic Fibrosis
 Duchene Muscular Dystrophy (DMD) is a neuromuscular disorder
caused by mutations within the dystrophin gene. DMD is
characterized by progressive skeletal muscle degeneration and
atrophy and progressive cardiomyopathy.
 Cystic fibrosis (CF) is an inherited disorder that causes severe
damage to the lungs, digestive system and other organs in the
body. Cystic fibrosis affects the cells that produce mucus, sweat
and digestive juices.
CYSTIC FIBROSIS

10. SYMPTOMS OF DUCHENE
MUSCULAR DYSTROPHY
 Frequent falls
 Difficulty rising from a lying or
sitting position
 Trouble running and jumping
 Waddling gait
 Walking on the toes
 Large calf muscles
 Muscle pain and stiffness
 Learning disabilities
 Delayed growth
PERSON(S) SUFFERING FROM
DUCHENE MUSCULAR DYSTROPHY

11. SYMPTOMS OF CYSTIC FIBROSIS
 A persistent cough that produces thick mucus (sputum)
 Wheezing
 Exercise intolerance
 Repeated lung infections
 Inflamed nasal passages or a stuffy nose
 Recurrent sinusitis
PERSON(S) SUFFERING FROM CYSTIC FIBROSIS:

12. 3.) Spinal Muscular Atrophy – is a genetic condition that causes muscle
weakness and atrophy (when muscles get smaller). SMA can affect a child’s
ability to crawl, walk, sit up, and control head movements. Severe SMA can
damage the muscles used for breathing and swallowing.

13. SYMPTOMS OF SPINAL MUSCULAR ATROPHY
 Muscle weakness and decreased muscle tone
 Limited mobility
 Breathing problems
 Delayed gross motor skills
 Scoliosis
PERSON(S) WITH SPINAL MUSCULAR ATROPHY DISEASE

14. FUN FACTS ABOUT DELETION:
 A British girl named Olivia Farnsworth is the only known case of
Chromosome 6 Deletion. She does not feel hunger, pain, or the
need to sleep. In 2016, she was hit by a car but felt no pain and
had minor injuries. Her doctors named her “Bionic Girl”.
 Elizabeth Taylor had a genetic mutation of the FOXC2 gene which
gave her an extra row of eyelashes.
 1 out of every 10,000 babies is born with Williams Syndrome.
 The Deletion in the DNA is too small even to be seen under a
microscope.
 Williams Syndrome is known to occur equally both males and
females and in every culture.

15. SUMMARY
 Deletion is a mutation in which a part of a
chromosome or a sequence of DNA is left out during
DNA replication. Any number of nucleotides can be
deleted, from a single base to an entire piece of
chromosome. Some chromosomes have fragile spots
where breaks occur which result in the deletion of a
part of chromosome. The breaks can be induced by
heat, viruses, radiations, chemicals. When a
chromosome breaks, a part of it is deleted or lost, the
missing piece of chromosome is referred to as deletion
or a deficiency.

16. YOU REACHED THE END!
THANK YOU FOR LISTENING TO US!
Presented by:
( GROUP 2)
Jhon Michael D. Bangibang
Alfredo C. Lagundi
John Mark F. Parallag
Jennifer D. Calimag
Zaira Eliz M. Gonzales
Kyla Marie S. Tangan
Presented to:
Teacher Jennifer Lou Abuzo
Grade 11 – STEM NEWTON CLASS