Universidad Autónoma de Nuevo León

Preparatoria No. 4
Integrative 2

Mendelian genetics

M. C. Carlos Ramón Cruz Vega

4 “A’
1814600 Álvarez Zúñiga Shaila Elizabeth
1813124 Navarro Leija Blanca Lorena
1811475 Pérez Arredondo Jennifer Cristal
1806116 Valades Aranda Sofía Guadalupe

Linares, Nuevo León to March-24-2017

 History of genetics
Birth of genetics as a Thomas Hunt Morgan
James Watson and
science thanks to the shows that genes are
Francis Crick published
discoveries of Gregor organized in a linear
their model of the DNA
Mendel fashion within the
double helix
chromosomes

1865 1903 1911 1928 1953

Frederick Griffith
Walter Sutton discovered a
shows that the substance that
chromosomes are transmits genetic
units of inheritance information from
of cell one cell to
another
 Out to the market the Bill Clinton announces the
first product made by end of the Human Genome
genetic manipulation: Project
Insulin

1956 1982 1997 2000 2003

Vernon Ingram Researchers presented

discovers that anemia to Dolly, the sheep, the
The Human Genome
is caused by a change first mammal produced
Project it’s completed at
in the amino acid of by cloning from an
99% with a 99.99% of
the hemoglobin adult cell
fidelity
 Albinism Disease
Albinism is caused by a mutation in
chromosome 11 (but in the image, the
red area in the different chromosome,
sample the different places if is
altered, causes albism). In these
genes provides instructions for
making of several proteins involved
in the production of melanin, causing
lack production of melanin.

Melanin is produced by cells called melanocytes.

 Genotype of Albinism Disorder

In some types of albinism, a person must

inherit two copies of a mutated gene —
one from each parent — in order to have
albinism (recessive inheritance).

Genotype= 1:2:1 or 25%: 50%:25%

Phenotype= 75% 25%
 Phenotypes of Albinism Disorder

• Color: For the lack of melanine (who is gives the color to the hair, skin, nails,
and iris), in the hair can rage the color, in the eye can appear slightly translucent
and red or pink.

• Vision: is always affected. Change to eye function can include:

-Rapid, involuntary back-and-forth movement of the eyes (nystagmus).
-Inability of both eyes to stay directed at the same point or to move in unison
(strabismus).
-Extreme nearsightedness or farsightedness Sensitivity to light (photophobia).
-Abnormal curvature of the front surface of your eye or the lens inside your eye
(astigmatism), which causes blurred vision.
Genotype of Tay-Sachs

Tay-Sachs is an autosomal recessive disease

caused by mutations in both alleles of a gene
(HEXA) on chromosome 15.

A a
a Aa aa Genotype= 50% 50%
Phenotype= 50% 50%
a Aa aa
Normally, β-hexosaminidase A helps to degrade a lipid called
GM2 ganglioside, but in Tay-Sachs individuals, the enzyme is
absent or present only in very reduced amounts, allowing
excessive accumulation of the GM2 ganglioside in neurons.

The progressive neurodegeneration seen in the varied forms of Tay-Sachs depends upon the speed and
degree of GM2 ganglioside accumulation, which in turn is dependent upon the level of functional β-
hexosaminidase A present in the body.
 Phenotype of Tay-Sachs
• Paralysis
• Dementia
• Blindness
• Deterioration of speech
• Epileptic foci, crises and convulsions
• Muscle atrophy (weakness)
• Early death to a chronic adult form that
exhibits neuron dysfunction and
psychosis.
 Genotype of Cystic Fibrosis

CF is an autosomal recessive disease resulting from mutations

in a gene located on chromosome 7. The most common
mutation in the CF gene (70 percent of CF chromosomes) is a
3-base-pair deletion that results in an absence of phenylalanine
at amino acid position 508 (F508) of the CF gene protein
product, known as the CF transmembrane regulator (CFTR).

A a
a Aa aa Genotype= 50% 50%
Phenotype= 50% 50%
a Aa aa
Phenotype of Cystic Fibrosis

Mild phenotypes are associated with:

• Lower sweat chloride concentrations

• Pancreatic sufficiency (PS)
• Sinusitis (infection)
• Variable lung disease
• Liver disease
• Diabetes
• Male and Female reproductive organs
complication
• No history of meconium ileus
 Huntington’s disease
Incurable, hereditary brain disorder

Huntington is found on
chromosome number 4. The faulty
gene is larger than it should be and
produces a larger form of
huntingtin.

An accumulation of extra CAG nucelotides within the gene created an anormal of the protein that has destructive effect
in the brain.
This CAG expansion occurs when cells attempt to remove oxidative lesions within the DNA through a repair enzyme
called 7,8-dihydro-8-oxoguanine-DNA glycosylase (OGG1).
A normal copy of the gene produces
huntingtin, a protein.

Expanded repeat sequences of

glutamine residues are associated with
the formation of protein aggregates in
the cell nuclei of the affected neurons
 Genotype of Huntinton’s Disease

As Huntinton’s disease is inherited dominantly, a child who has/had the

disease has a 50% change of inheriting the defective gene. Often the
disease affects several generation.

A a
Genotype= 50% 50% a Aa aa
Phenotype= 50% 50%
a Aa aa
 Phenotypes of Huntinton’s Diseases
Usually being when the adult are in their 30s or 40s. Initial signs often:
• Depression
• Irribitality
• Hallucinations
• Psychosis
• Minor involuntary movements
• Poor cordination
• Difficulty understanding new information
• Trouble making decisions

When the diseases progresses:

• Uncontrolled twitching movements, called chorea
• Difficulty walking
• Trouble swallowing and speaking
• Confusion
• Memory loss
• Personality changes
• Speech changes
• Decline in cognitive abilities
 Hemophilia Disease
Hereditary genetic disorder

Hemophilia that is linked to the sexual

chromosome X, is transmitted to men. the X
chromosome, is the place where the genes that
encode the hemostatic factors VIII and IX,
although their transmitters are women.

Inherited bleeding disorder in which a person

lacks or has low levels of certain proteins
called “clotting factors” and the blood doesn’t
clot properly as a result. This leads to excessive
bleeding. There are 13 types of clotting factors,
and these work with platelets to help the blood
clot.
The coagulation system is composed of 13 factors which are: Factor I, II,
III... XIII
Coagulants that work together, their work is called "clotting cascade, and if
one does not work as it is because the waterfall is interrupted and the
clotting which helps to stop the bleeding does not work therefore the
wounds bleed more time causing internal or external bleeding.

The three forms of hemophilia are hemophilia A, B, and C.

• Hemophilia A is the most common type of hemophilia, eight out of 10 people
with hemophilia have hemophilia A., and it’s caused by a deficiency in factor
VIII.
• Hemophilia B, which is also called Christmas disease, is caused by a deficiency
of factor IX.
• Hemophilia C is a mild form of the disease that’s caused by a deficiency of
factor XI. People with this rare type of hemophilia often don’t experience
spontaneous bleeding. Hemorrhaging typically occurs after trauma or surgery.
Hemophilia are inherited in an X-linked recessive
genetic pattern and are therefore much more
common in males. This pattern of inheritance
means that a given gene on the X chromosome
expresses itself only when there is no normal gene
present.

X X
X XX XX
Unaffected daughter Carried daughter

Y XY XY
Unaffected son Affected son

Genotype= 25% 50% 25%

Phenotype= 75% 25%
 Phenotypes to Hemophilia Disease

The extent of your symptoms depends on the

severity of your factor deficiency. People with a
mild deficiency may bleed in the case of trauma.
People with a severe deficiency may bleed for no
reason. This is called “spontaneous bleeding.”

Spontaneous bleeding can cause the following:

• Blood in the urine
• Blood in the stool
• Deep bruises
• Large, unexplained bruises
• Excessive bleeding
• Bleeding gums
• Frequent nosebleeds
• Pain in the joints
• Tight joints
• Irritability
 Conclusions
• Genetics is a science that has allowed us to find the how the information passes from one cell to another, such as
hereditary diseases occur and how they are manifested in the generations, such as the difference between a
dominant gene and one recessive, is a science that has allowed us to develop in better medicines such as insulin,
and that has the potential to further progress in different areas, perhaps in a future even possible in order to avoid
having these inherited diseases to the next different, such as the development of better medicines.
-Blanca Navarro
• Thanks to this research, I learned of diseases of which he had no knowledge, many times these diseases do not
have a treatment or cure, as are genetic alterations. The main causes of this happening are genes transmitted from
parents to children, abnormalities in the number or structure of chromosomes, etc. Also the application of
genetics that has occurred in recent years has led to an analysis in human genes, not only in relation to the study
of diseases, but also to have a correct posture to do research in different areas because it has always risks how to
lose genetic diversity.
-Jennifer Perez
• With over time, the science constantly change for updates, and this updates benefit us. In this case, our
investigation is focused in advanced about genetic, more specific, in genetic disease. We find the diverse causes
about contract the disease, what they affected and where, the most people contract this horrible diseases, who
complicate the normal life of the affected, because they affected the performance of regular functions, controlled
for the chromosomes.
The science, try to find a cure, for most complicated to listen, the doctors and researches want to put end this
torture outside our offspring.
-Sofía Valadés

• With the genetics have developed different medicines with which to treat diseases such as diabetes, has helped us
to identify diseases that we now know are hereditary, but we must also have a respect for nature and a controlled
rate in investigations within this science, then we can cause problems.
-Shaila Alvarez
Bibliography
• Jaime García Chávez & Abraham Majluf Cruz. (2013). Hemophilia. March 23, 2017, de
Gaceta Médica México Sitio web:
http://www.anmm.org.mx/GMM/2013/n3/GMM_149_2013_3_308-321.pdf
• National Center for Biotechnology Information . (1998). Tay-Sachs disease. Sitio web:
https://www.ncbi.nlm.nih.gov/books/NBK22250/
• AMERICAN THORACIC SOCIETY. (2016). Cystic Fibrosis. New York. Sitio web:
https://www.thoracic.org/patients/patient-resources/breathing-in
america/resources/chapter-7-cystic-fibrosis.pdf
• Andrew Bush. (2016). Cystic Fibrosis in the 21st Century. London: KARGER.