Genetic Disorder Report: Cystic Fibrosis, Inheritance and Treatment

This report provides an overview of genetic disorders, specifically focusing on Cystic Fibrosis (CF). It defines genetic disorders and explains CF as a condition affecting the lungs and digestive system due to a mutation in the CFTR gene. The report details the symptoms of CF, including salty skin, coughing, lung infections, and breathing problems, and explains its autosomal recessive inheritance pattern. It recommends detailed understanding and preparation for patients and families diagnosed with CF, emphasizing the importance of tests and potential preventative measures such as folic acid intake during pregnancy and avoiding smoking and alcohol. The report also discusses the differences between search engines and library databases for academic research, highlighting the use of keywords and the value of library databases like NCBI and Google Scholar. The assignment concludes with a reference list of relevant research papers.

Running head: GENETIC DISORDER
Genetic Disorder
Name of the student
Name of the university
Author’s name

1GENETIC DISORDER
Introduction
A genetic disorder is a kind of disease that occurs due to the abnormality in the makeup
of a gene of an individual. The abnormality in the makeup of a gene can vary from a minor to
large amount of mutation in a single base of a single DNA which can also comprise of addition
or removal of base pairs from a DNA or from an entire chromosome. There are few individuals
who inherit various kinds of genetic diseases from their parents. There is also a chance of when
the acquired mutation can lead to the occurrence of many other mutations which can cause other
genetic diseases.
Discussion
Part 1
There are various kinds of genetic disorders that an individual can inherit from their
parents. Such are sickle cell anemia, cystic fibrosis, heart disease, blood pressure, cancer, and
many other type of disease.
Cystic fibrosis
Cystic fibrosis is a common a genetic disorder that harms the lungs and digestive system.
During this condition the human body develops mucus which is both dense and sticky that
blocks the lungs and hinders the pancreas. Usually, people who suffer from the cystic fibrosis
(CF) tend to have a shorter life span than the usual life span of other people (Elborn, 2016). Due
to the formation of a cystic fibrosis trans-membrane conductance regulator (CFTR) protein
because of mutation in the gene, it leads to the Cystic fibrosis. The role of the CFTR protein is to
give direction to the flow of salt and fluids inside and outside of the cells in various parts of the

2GENETIC DISORDER
body. The CF is a type of recessive disease that means that an individual should have mutation in
the both copies of the CFTR gene in order to have a CF (Elborn, 2016).
Symptoms
A person who has been diagnosed with a CF shows a number of symptoms such as salty
skin, consistently coughing with the sign of phlegm, lung infections such as the pneumonia or
bronchitis, breathing problems and poor appetite (Tabori et al., 2017).
Mode of inheritance
A person generally inherits a CF in an autosomal recessive manner. It occurs due to the
occurrence of mutation in the both copies of the CFTR gene. People who have a single working
copy are the carriers of the CF disorder, but usually they are considered as healthy beings
(Brown & Flume, 2018).
Recommendation
When a person or family member is diagnosed with the CF, they should be given a
detailed understanding of the disease, what tests will be conducted such as sweat chloride test, a
genetic or carrier test so that they can be prepared from soon enough to be able to cope with the
treatment procedures (Ronan, Elborn & Plant, 2017).
Genetic disorders can be prevented as it is continuously passed on from one generation to
another. Though there are certain ways which can help in preventing the occurrence of the
genetic disorders in the children (Harris et al., 2017). Such as having folic acid just before and
during the pregnancy stage can help in reducing the chances of birth defects or the chances of the
genetic. If the mother is addicted to alcohol or smoking, then they should start avoiding it as,

3GENETIC DISORDER
they are the major triggers for most of the genetic disorders. They should also try to keep their
diabetes and other related health issues under control (Harris et al., 2017).
Part 2
The keywords for the following genetic disorder were “Cystic fibrosis”, “genetic
disorder”, and “mechanism of CF.”
The major difference between a search engine like Google and a library database like PG
library is that a search engine uses computer algorithms to search for websites that match the
keywords which have been entered. However, the library databases identify and provide
published and academic resources involving articles and journals. Library databases are
discipline-specific.
To find academic research papers, library databases are the searching ways to get the
desired articles and journals. There are various kinds of library databases such as the NCBI,
Google scholar, ENSEMBL, Purdue Global Library and many more.
“The rest of the Part 2 of the assignment has to be done by the student as the PG library
requires the student ID and password.”

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References
Brown, K. L., & Flume, P. A. (2018). Pediatric and Adult Recommendations Vary for Sibling
Testing in Cystic Fibrosis. Journal of genetic counseling, 27(5), 1049-1054.
Elborn, J. S. (2016). Cystic fibrosis. The lancet, 388(10059), 2519-2531.
Harris, B. S., Bishop, K. C., Kemeny, H. R., Walker, J. S., Rhee, E., & Kuller, J. A. (2017). Risk
factors for birth defects. Obstetrical & gynecological survey, 72(2), 123-135.
Ronan, N. J., Elborn, J. S., & Plant, B. J. (2017). Current and emerging comorbidities in cystic
fibrosis. La Presse Médicale, 46(6), e125-e138.
Tabori, H., Arnold, C., Jaudszus, A., Mentzel, H. J., Renz, D. M., Reinsch, S., ... & Mainz, J. G.
(2017). Abdominal symptoms in cystic fibrosis and their relation to genotype, history,
clinical and laboratory findings. PloS one, 12(5), e0174463.