BIO FPX 1000 Assessment 5 Homework: Genetics Lab
Homework: Genetics Lab
The genetics lab offers comprehensive services for the investigation of all chromosomes. Conditions, including fetal malformations and blood and cancer disorders, are all diagnosed in a genetics lab. Furthermore, the genetics lab offers both technical advice and professional consultation on many genetics-related issues (Nancy, 2020). In order to guarantee effective teamwork among medical experts and provide better treatment to patients. This assessment is aimed at analyzing the karyotype results and figuring out how genetic abnormalities are influencing the body’s functions. The advantages and disadvantages of genetic testing as well as its implications for the patient are also discussed in this evaluation. Get BIO FPX 1000 Assessment 5 Homework: Genetics Lab
Chances of Individuals Inheriting the Autosomal Trait
An autosomal recessive condition is an approach in genetics that means there should be two copies of an abnormal gene for the development of a trait as well as a disease. The pattern of autosomal recessive inheritance shows that a relevant gene is present in one of the autosomes. It shows that at least two copies of defect genes should be present for a particular trait, and each one of the copies is inherited from mother and father both (Chandra et al., 2019). If there is only one copy of the defective gene, then the child will be a carrier and will not develop a disease or trait conferred by that gene. Parents having a child with autosomal recessive conditions do not necessarily show the condition. If the child is born with the recessive condition, there is a 25% chance that with each pregnancy, the child will have a recessive trait.
BIO FPX 1000 Assessment 5 Homework: Genetics Lab
Analyzing a family’s pedigree can reveal the likely mode of disease transmission within a group. In this setting, both sexes are equally vulnerable to autosomal recessive disorders. Using pedigree data, researchers can ascertain whether a gene is autosomal, recessive, or dominant. When evidence is provided about which family members possess a certain trait, the pedigree can draw attention to those who share that trait (Chakchouk et al., 2019).
Gender of the Second Patient
Emily, a 40-year-old woman, is the second patient in the lab scenario. Because she is expecting, she wants to know the karyotype of the baby. The purpose of a karyotype analysis is to see if an individual has all 46 chromosomes by taking a chromosomal count. Conditions like Down syndrome (additional 21 chromosome) as well as Turner syndrome (in which a woman has an additional X chromosome) are examples of the concerns that may be inflicted on health and development due to chromosomal abnormalities. Karyotype analysis of for male gender reveals a 23rd pair of chromosomes, which is composed of X and Y. Whereas, in the female karyotype, chromosomal pair 23 is labeled XX (Bradley, 2020). The karyotype testing of Emily Yang’s baby revealed that the 23rd pair of chromosomes is present as XY, indicating that the fetus is male.
Results of the Karyotype
Karyotype analysis is useful for diagnosing chromosome-related diseases. When chromosome 21 has an extra copy, it results in Down syndrome, which is also known as trisomy 21 (Mitrovic, 2022). Emily Yang was found to have trisomy 21 after a thorough examination of the karyotype. This condition is characterized by the presence of chromosome 21, which makes up the 21st pair of chromosomes. This predicts that a child with Down syndrome would be delivered.
BIO FPX 1000 Assessment 5 Homework: Genetics Lab
There is a wide range of potential consequences of chromosomal abnormalities. An additional chromosome 21 copy is responsible for Down syndrome. Miscarriage, illness, or developmental issues may all originate from chromosomal abnormalities (Mitrovic, 2022).
It is the job of genetic counselors to help their patients adjust to and plan for any potential outcomes. Prenatal testing allows for the detection of disorders like Turner or Down syndrome. The genetic counselor will give an objective analysis of Down syndrome. The next thing the counselor says is that individuals with Down syndrome may also be completely normal. However, they do suffer from memory problems and occasionally experience physical ailments. Heart problems are among the illnesses that can be managed in a positive environment (Fairchild et al., 2019). The counselor may approach them and ask if they might be willing to have conversations with the families of Down syndrome children. She may also add that the decision to have the baby or not may entirely depend on the parents. She will do anything she can to maintain their confidence in their decision. Get BIO FPX 1000 Assessment 5 Homework: Genetics Lab
The Positive and Negative Ramifications of Genetic Testing
A potentially beneficial impact is to inform the affected individual regarding the existence of preventative measures, screening tools, and therapeutic choices. The results of certain tests can also be considered while deciding whether or not to start a family. Treatment for genetic diseases can begin as soon as possible if they are detected through newborn screening. If people learn that they do not carry a particular mutation, they may feel less worried about the safety of themselves and their offspring (Owens et al., 2019). There will be a timely diagnosis if other family members are at risk by conducting genetic testing. However, there are potential drawbacks or hazards associated with genetic testing. The testing may predict the risk of a disorder however, it can tell with surety that an individual will develop a certain condition or not. In some instances, the results may be ambiguous or inconclusive and negatively impact family and friends (Owens et al., 2019). The costs associated with this procedure are higher and impose financial constraints, and everyone cannot avail of this service.
Conclusion
Parents of children with the condition chromosomal abnormality usually do not experience any symptoms themselves. The chromosomes of an individual, isolated from a single cell and arranged numerically, are represented in a karyotype testing report. Examining chromosomes by means of a karyotype might reveal abnormalities in genome count or structure. Genetic counselors should guide parents about karyotyping and other tests for earlier diagnosis of the problem to avoid negative effects on time.
References
Bradley, A. (2020). The principles of genetics within neonatal palliative care. Neonatal Palliative Care for Nurses, 115–130. https://doi.org/10.1007/978-3-030-31877-2_8
Chakchouk, I., Zhang, D., Zhang, Z., Francioli, L. C., Santos-Cortez, R. L. P., Schrauwen, I., & Leal, S. M. (2019). Disparities in discovery of pathogenic variants for autosomal recessive non-syndromic hearing impairment by ancestry. European Journal of Human Genetics, 27(9), 1456–1465. https://doi.org/10.1038/s41431-019-0417-2
Chandira, R. M., Prabakaran, M., Jaykar, B., Venkateswarlu, B. S., & Palanisamy, P. (2019). BRCA mutation: A review of breast cancer. Journal of Drug Delivery and Therapeutics, 9(4), 750–758. https://doi.org/10.22270/jddt.v9i4.3602
Fairchild, G., Hawes, D. J., Frick, P. J., Copeland, W. E., Odgers, C. L., Franke, B., Freitag, C. M., & De Brito, S. A. (2019). Conduct disorder. Nature Reviews Disease Primers, 5(1). https://doi.org/10.1038/s41572-019-0095-y
Mitrovic, J. (2022). The effects of ballet-specific training on balance in young individuals with Down syndrome. Keep.lib.asu.edu. https://keep.lib.asu.edu/items/170230
Nancy, R. (2020). Screening for fetal chromosomal abnormalities. Obstetrics & Gynecology, 136(4), 48–69. https://doi.org/10.1097/aog.0000000000004084
Owens, D. K., Davidson, K. W., Krist, A. H., Barry, M. J., Cabana, M., Caughey, A. B., Doubeni, C. A., Epling, J. W., Kubik, M., Landefeld, C. S., Mangione, C. M., Pbert, L., Silverstein, M., Simon, M. A., Tseng, C.-W., & Wong, J. B. (2019). Risk assessment, genetic counseling, and genetic testing for BRCA-related cancer. JAMA, 322(7), 652. https://doi.org/10.1001/jama.2019.10987
