LESSON #3
 GENETICS – scientific study of genes and heredity;
how certain qualities or traits are passed from
parents to offspring as a result of changes in DNA
sequence.
– "Gen" means beginning
– Parents pass traits on to their children.
Genetics is the science of genes and how traits
passed on from one generation to the next.
 Gregor Johann Mendel – Botanist, Teacher, and
Augustinian prelate, the first person to lay
mathematical foundation of the science of
genetics, in what came to be called Mendelism.
– Experimented on garden pea
hybrids while living at a monastery and is known
as the Father of Modern Genetics.
Key Terms in Genetics
 Punnett Square – graphical representation of the
possible genotypes of an offspring arising from a
particular cross or breeding event.
 GENOTYPE – genetic makeup of an organism
– Describe organism's complete set of genes.
– Can be used to refer to the alleles, or variant
forms of a gene, that are carried by an organism
 PHENOTYPE – the observable physical properties of an
organism; includes the organism's appearance,
development, and behavior
 GENES – short sequence of DNA encoding for a certain
trait. It determines traits in an individual.
 ALLELES – different variants of a gene.
– responsible for diverse features of traits
 Deoxyribonucleic Acid (DNA) – information molecule
– has a phosphate backbone with bases such as
adenine, cytosine, guanine, and thymine, while
the deoxyribose portion contains pentose sugar
 Chromosomes – are threadlike structures made of
protein and a single molecule of DNA that serve
to carry the genomic information from cell to cell
 Ribonucleic Acid (RNA) – essential in various biological roles
in coding, decoding, regulation and gene expression .
LESSON #4
 Genetic Disorders – a category of diseases that
includes certain types of birth defects, chronic
diseases, developmental problems, and sensory
deficits that are inherited from one/both parents
– A genetic disorder happens when a
gene/s has a problem with its code, and this
causes a health problem.
– Sometimes a genetic disorder happens
when a child inherits it from one or both parents.
Other times, it happens only in the child (and the
parents do not have the genetic disorder)
Genetic disorders can be:
 Chromosomal – Affects the structures that hold your
genes/DNA within each cell (chromosomes
– People are missing or have duplicated
chromosome material.
 Complex (multifactorial) – Gene mutations and other
factors.
 Single-gene (monogenic) – This group of conditions
occurs from a single gene mutation.
What are the common genetic disorders?
 Chromosomal disorders
:Down Syndrome (TRISOMY 21) – a person is born
with an extra copy of chromosome 21
:Patau syndrome (Trisomy 13) – has 3 copies of
genetic material from chromosome 13. Rarely,
the extra material may be attached to another
chromosome (translocation).
:Edwards syndrome (TRISOMY 18) – In the case of
trisomy 18, the baby has three copies of
chromosome 18. This causes many of the baby's
organs to develop in an abnormal way.
:Fragile X – an inherited condition that causes
developmental delays, intellectual disabilities,
learning and behavioral issues, physical
abnormalities, anxiety, attention-deficit/
hyperactivity disorder , and/or autism spectrum
disorder, among other problems Fragile X
Syndrome
 Multifactorial disorders
:Alzheimer's Disease – A progressive disease
beginning with mild memory loss and possibly
leading to loss of the ability to carry on a
conversation and respond to the environment
:CANCER – a large group of diseases with one thing
in common: They all happen when normal cells
become cancerous cells that multiply and spread.
– The most common cancers worldwide
are breast, lung, colon and rectum and prostate
cancers (WHO)
:Coronary Artery Disease – caused by plaque
buildup in the wall of the arteries that supply
blood to the heart. Plaque is made up of
cholesterol deposits.
– Atherosclerosis: Plaque
buildup narrowing of the inside of the arteries
over time caused by the plaque buildup.
:DIABETES – a chronic (long-lasting) health condition
that affects how your body turns food into
energy. Your body breaks down most of the food
you eat into sugar (glucose) and releases it into
your bloodstream. When your blood sugar goes
up, it signals your pancreas to release insulin.
 Monogenic disorders
:Cystic Fibrosis – disease that causes sticky, thick
mucus to build up in organs, including the lungs
and the pancreas. In people who have CF, thick
mucus clogs the airways and makes it difficult to
breathe. It is genetic. People who have CF inherit
two faulty genes, one from each parent.
:Congenital Deafness – hearing loss that is present
at birth. This hearing loss can either be
manifested at birth or develop later, but is the
result of genetic causes or other influences that
affected the fetus. Both parents may have healthy
hearing yet carry recessive genes that cause
issues or genetic syndromes in which hearing loss
is a symptom.
:Sickle Cell Disease – inherited disorder that affects
your red blood cells, producing a negative impact
on your health. In SCD, your hemoglobin is not
normal and cannot pass easily through your blood
vessels.

 Types of Diabetes
 Type 1 diabetes – chronic (life-long)
autoimmune disease that prevents your pancreas
from making insulin.
 Type 2 diabetes – body can’t use energy
from food properly. Your pancreas produces
insulin (a hormone) to help your cells use glucose
(sugar).
 Pre-diabetes – you have higher blood sugar
levels than normal but not high enough to be
considered diabetes.
 Gestational diabetes (GD) – develops in
pregnancy when blood sugar levels get too high

:SPINA BIFIDA – caused by the incomplete

development of the fetus’ spine during the first
month of pregnancy. The condition varies in
degree, from mild with no symptoms to severe
with nerve damage. The exact cause of the
occurrence of spina bifida isn’t clear. A
combination of genetics & environmental factors
is thought to be the main cause.