2.1.1 Chronicles of a Genetic Counselor
In this activity, we were introduced to the medical professionals that make up the field of genetics and genetic counseling. We focused on the role of a genetic counselor and worked to learn about various genetic disorders through their work. Another topic we covered was the role of genetic code and its impact on various diseases.
In this activity, we were introduced to the medical professionals that make up the field of genetics and genetic counseling. We focused on the role of a genetic counselor and worked to learn about various genetic disorders through their work. Another topic we covered was the role of genetic code and its impact on various diseases.
Genetic code is the nucleotide sequence that makes up and codes for RNA and DNA molecules. In our bodies, genetic code tells the cells their exact function, make up, and appearance. Our code is what differentiates me from you, and vice versa. Genetic code also plays a key role in diseases that plague the body. In genetic diseases and disorders, there is an error in the genetic code that causes the particular disease. It can be as small as one single nucleotide, out of the trillions that make up our genetic coding.
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List the diseases from #6 above and key information about each disease.
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2.1.2 Copy Your Genes
In this activity, we explored the basis of the PCR (Polymerase Chain Reaction) and ran a PCR to amplify DNA to lead to pathogen detection.
In this activity, we explored the basis of the PCR (Polymerase Chain Reaction) and ran a PCR to amplify DNA to lead to pathogen detection.
PCR
A specific gene or region can be targeted after the denaturation of DNA in a PCR reaction. During the annealing phase of PCR, a primer attaches to the desired region of DNA. As the DNA anneals and extends, the targeted DNA is amplified and produces millions of copies of the desired DNA. PCR can be used in the identification of a disease pathogen by isolating and amplifying desired gene sequences and testing them based on a set of standards. In the bacterial meningitis case in Unit 1, each patient sample could have easily been amplified and isolated. Once the desired region was found, the DNA could have been run on a gel and set to compare against a positive and negative control of the disease agent. |
In the PCR gel that we ran, we tested to see the power of PCR amplification. Using a standard DNA marker (1), control reaction 0 cycles (2), 10 cycles reaction sample (3), 20 cycles reaction sample (4), and 30 cycles reaction sample (5). Each reaction sample contained:
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2.1.3 Test Your Own Genes
In this activity, we reviewed the basis of PCR testing and its function in genetic testing. We also tested our own genes using PTC paper. If able to taste the bitterness of the PTC chemical, you are a "PTC tester". If not able to taste the bitterness and the PTC paper had no taste, you are not a tester. There was also an additional PCR experiment, however, we did not perform the experiment.
In this activity, we reviewed the basis of PCR testing and its function in genetic testing. We also tested our own genes using PTC paper. If able to taste the bitterness of the PTC chemical, you are a "PTC tester". If not able to taste the bitterness and the PTC paper had no taste, you are not a tester. There was also an additional PCR experiment, however, we did not perform the experiment.
2.1.5 Maternal and Child Health
In this activity, we explored the use of various genetic tests in maintaining maternal, fetal, and child health. We were introduced to two tests: amniocentesis and CVS. Both tests are performed on a pregnant mother to test for chromosomal abnormalities in the developing fetus.
In this activity, we explored the use of various genetic tests in maintaining maternal, fetal, and child health. We were introduced to two tests: amniocentesis and CVS. Both tests are performed on a pregnant mother to test for chromosomal abnormalities in the developing fetus.
2.2.1 Gene Therapy
In this activity, we researched both the basics and the ethical controversy behind gene therapy.
In this activity, we researched both the basics and the ethical controversy behind gene therapy.
Gene therapy is a quickly evolving topic in the field of genetics. Millions of people around the world are affected by genetic disorders that currently have no treatment or cure. Genetic therapy provides treatment option to genetically alter the affected gene causing the genetic disorder. It is the delivery of a missing or corrected copy of a defective gene which will cause the cell to rebuild the RNA and then the proteins in order for them to function correctly.
Pros:
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Pompe Disease- Glycogen Storage Disease Type 2 (GSDll)
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2.2.2 Reproductive Technology
In this activity, we were introduced to the ethical controversy regarding genetic alterations and reproductive technology. Modern improvements in reproductive technology has allowed for genetic alterations to be made to fertilized eggs before they are implemented in the uterus. Two controversial technologies are genetic cloning and sex selection, allowing a particular embryo to be chosen and implemented.
In this activity, we were introduced to the ethical controversy regarding genetic alterations and reproductive technology. Modern improvements in reproductive technology has allowed for genetic alterations to be made to fertilized eggs before they are implemented in the uterus. Two controversial technologies are genetic cloning and sex selection, allowing a particular embryo to be chosen and implemented.