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EXTENDING MENDELIAN

GENETICS FOR A SINGLE


GENE
FRANCIS MARTIN G. ABLE BSED SCIENCE 3A
02.12.2023
Definition of Terms
Allele - An allele is a variant form of a gene.
Genotype - a unique sequence of DNA of an individual.
Phenotype - detectable expression of a genotype.
Dominant traits (R) - are always expressed when the
connected allele is dominant, even if only one copy of the
dominant trait exists.
Recessive traits (r) - are expressed only if both the
connected alleles are recessive.
Law of dominance - states that the presence of a dominant
allele will always mask the presence of a recessive allele.
Definition of Terms
Dominance - pertains to a gene or allele expressed over the
other genes or alleles.
Lethal Allele - are alleles that cause an organism to die only
when present in a homozygous condition. The gene involved
is considered an essential gene and the lethal allele may be
either dominant or recessive
Concept Discussion
Degree of Dominance
Complete Dominance
Incomplete Dominance
Codominance
Multiple Allele
Pleiotropy
Complete Dominance (Bb)
Is a form of dominance wherein the dominant allele
completely masks the effect of the recessive allele in
heterozygous conditions.

A gene (or allele) shows dominance when it suppresses


the expression — or dominates the effects — of the
recessive gene (or allele).
Complete Dominance (Bb)
Complete dominance is often interchanged with simple
dominance. This is because simple dominance happens
when a single gene has two versions of itself. These
versions are dominant or recessive. So the organism will
either receive the dominant version of the gene when the
dominant gene is present and the recessive phenotype in
the absence of the dominant genetic trait.
Complete Dominance
Achondroplasia is a type of dwarfism caused by the presence of a dominant allele (A).
However, the presence of two dominant alleles is lethal. Individuals that are homozygous
dominant (AA) are never born (miscarried). As phenotype ratios usually only include
individuals who survive to birth, the resulting ratios are altered.
w w R R
Incomplete Dominance C C + C C
Incomplete dominance occurs when there is a relationship
between the two versions of a gene, and neither is
dominant over the other so they mutate to form a third
phenotype. A heterozygote phenotype intermediate
between the two homozygote phenotypes, is called
incomplete dominance.

One of the two alleles is incompletely dominant over the


other.
w w R R
Incomplete Dominance C C + C C

A flower may be red when both are RR dominant alleles are


passed down or white when both the rr dominant alleles of
the same gene are passed down from the same parents.
Incomplete Dominance
Andalusian Chickens
Codominance
Codominance occurs when either of the alleles acts as
dominant or recessive over the other and so the traits of
both the alleles will show up in the phenotype.

Codominance occurs when both the alleles are dominant


together and so the traits of both the alleles will show up
in the phenotype.
Codominance
Codominance is often seen in cases of plants and animal
physical appearances. These can include fur types, for
instance, when a brown dog and a black dog mate and
create puppies that have brown and black patches.

RR = red hairs
WW= white hairs
RW = roan coat (mixture of both colors)
RW = codominance from RR & WW
Codominance
Short-horn cattle & Roan
cattle
The altered form of hemoglobin
that causes sickle-cell anemia is
inherited as a codominant trait.
Specifically, heterozygous (Ss)
individuals express both normal
and sickle hemoglobin, so they
have a mixture of normal and
sickle red blood cells.
Multiple Allele
Multiple Allele
Diploid organisms naturally have a maximum of 2 alleles for
each gene expressing a particular characteristic, one
deriving from each parent. In some cases, however, more
than two types of alleles can code for a particular
characteristic, as is the case of genetic coding for blood
type in humans. In the ABO group, there are three alleles: A,
B, and O. Usually these alleles are designated IA, IB, and i.

Mendel's work suggested that just two alleles existed for


each gene.
ABO Blood Group
1900:
The breakthrough came when Karl Landsteiner, an Austrian
scientist, discovered three human blood groups. These
were the A, B and O blood groups. For this discovery he
was awarded the Nobel Prize for medicine in 1930.
ABO Blood Group
ABO Blood Group
ABO Blood Group
ABO Blood Group
In an emergency situation where a patient’s blood type is
unknown, type O negative blood is the only blood type that
is safe to use. The reason is that it is compatible with all
blood types. Type O negative is known as the universal
blood type.

Less than 4% of the U.S. population have AB positive blood.


AB positive blood type is known as the “universal
recipient” because AB positive patients can receive red
blood cells from all blood types.
ABO Blood Group
In addition to the aforementioned A and B antigens, blood is
classified based by the presence of the Rh factor. Blood
types with the Rh factor are considered Rh positive, and
those without it are considered Rh negative. When we
account for A and B antigens as well as the Rh factor, we
get the eight most common blood types: A+, A-, B+, B-, O+,
O-, AB+ and AB-.
Risk at Pregnancy
The Rh factor (you are Rh positive or Rh negative) is inherited—the
fetus can get its Rh factor from either the father or the mother.
There can be problems if you are Rh negative and your fetus is Rh
positive.

If you are pregnant, your first visit to your obstetrician will involve a
blood test to find out your blood type and possibly to screen for
antibodies. (Antibodies are made by the immune system to fight off
threats to the body.) If the mother’s body reacts to a positive Rh
factor in the fetus’ blood, her body will create antibodies that can
begin to attack the blood of the fetus.
Risk at Pregnancy
So, to prevent this damaging reaction, a woman who is Rh-negative
will be given a medication called Rh immunoglobulin (RhIg) to block
the antibodies from attacking the red blood cells of the fetus.

Rh-null
One of the world’s rarest blood types is one named Rh-null. This
blood type is distinct from Rh negative since it has none of the Rh
antigens at all. There are less than 50 people who have this blood
type. It is sometimes called “golden blood.”
Pleiotropy
Pleiotropy
When one single gene starts affecting multiple traits
of living organisms, this phenomenon is known as
pleiotropy. A mutation in a gene can result in pleiotropy.

Pleiotropy is described as a single gene’s expression of


several traits. The term “pleiotropy” comes from a
Greek word that means “various ways.”
Pleiotropy
A condition of having multiple effects. In genetics, it refers to
a single gene controlling or influencing multiple (and
possibly unrelated) phenotypic traits.
In pharmacology, it may be a property of a drug wherein it
causes additional (beneficial) effects apart from the effect it
was intended to.
In molecular biology, it is exemplified by the cyclic AMP in a
cell wherein it produces a variety of effects as it controls a
protein kinase, which, in turn, affects various other proteins.
Pleiotropy Diagram
Phenylketonuria (PKU)

Untreated PKU can lead to: Irreversible brain damage and


marked intellectual disability beginning within the first few
months of life. Neurological problems such as seizures and
tremors. Behavioral, emotional and social problems in older
children and adults.
Phenylketonuria (PKU)
Phenylketonuria (PKU)
Phenylketonuria (PKU)
Marfan Syndrome
Marfan syndrome is a genetic condition that affects
connective tissue, which provides support for the body and
organs. Marfan syndrome can damage the blood vessels,
heart, eyes, skin, lungs, and the bones of the hips, spine, feet,
and rib cage.
The people suffering from these syndromes are usually long
heightened, thin bodies with long legs, arms, fingers, and toes
whereas there may be mild or severe damages caused by the
Marfan syndrome.
Marfan Syndrome
Waardenburg syndrome
Waardenburg syndrome is a group of genetic conditions
that can cause hearing loss and changes in coloring
(pigmentation) of the hair, skin, and eyes. Although most
people with Waardenburg syndrome have normal
hearing, moderate to profound hearing loss can occur in
one or both ears. The hearing loss is present from birth
(congenital).
Waardenburg syndrome
People with this condition often have very pale blue eyes
or different colored eyes, such as one blue eye and one
brown eye. Sometimes one eye has segments of two
different colors. Distinctive hair coloring (such as a patch
of white hair or hair that prematurely turns gray) is
another common sign of the condition. The features of
Waardenburg syndrome vary among affected individuals,
even among people in the same family.
END OF DISCUSSION
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