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Integrativeactivity2 Jennifercristalp
Integrativeactivity2 Jennifercristalp
Preparatoria No. 4
Integrative 2
Mendelian genetics
4 “A’
1814600 Álvarez Zúñiga Shaila Elizabeth
1813124 Navarro Leija Blanca Lorena
1811475 Pérez Arredondo Jennifer Cristal
1806116 Valades Aranda Sofía Guadalupe
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
• 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.
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
A a
a Aa aa Genotype= 50% 50%
Phenotype= 50% 50%
a Aa aa
Phenotype of Cystic Fibrosis
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.
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
X X
X XX XX
Unaffected daughter Carried daughter
Y XY XY
Unaffected son Affected son
• 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.