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Genetics: Heritability Report
Order Instructions: From the syllabus:
Recognize that genes are associated with physical and behavioral traits, and that these associations can be established and studied using the tools of molecular biology
Recognize the commonalities underlying human genetic disease and identify the most prevalent types of human genetic illness in order to use the specific avenues for the screening, counseling, risk management, and treatment of genetic diseases
You are expected to select a human genetic disease or disorder that is known to be heritable (a disorder that can be accounted for partially by genetic variation, but also by some other factor, including polygenic factors and/or environmental factors).
Genetics: Heritability Report
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Unlike your last assignment, this is not a monogenic disorder but a complex disorder. A) Select the heritable trait and discuss the manifestations and prognosis of the disorder. B) Provide a summary of research devoted to risk outcome for the disorder. That is, what is the risk of full-blown manifestations of the disease trait under various environmental or physiological conditions?
For example, a person who suffers from alcoholism can avoid the full manifestations of the disease by avoiding environments where alcoholic beverages are readily available. Your paper should be three pages long, double spaced, and should include the items discussed above, along with a separate bibliography section detailing all text and online references used to construct the report.
This assignment is worth 100 points (40 points for proper selection and explanation of a characterized heritable disease with physiological or behavioral outcomes, 40 points for proper risk outcome research, and 20 points for a well-prepared bibliography).
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Mapping DNA using restriction Enzymes and electrophoresis
Mary Smith
Chem I – Sect C
10/12/20XX
Sediment in Water – Lab #3
Koeck (Edit this part with your details)
Abstract
This laboratory report describes the experiment that was conducted using the restriction enzymes- restriction endonuclease- to manipulate the DNA molecules. The restriction enzyme has the capacity to recognize DNA sequences, and cleaving the DNA at that specific site. The endonuclease was used in conjunction with electrophoresis to map 2, 686 base pair of the pUC 19 plasmid. The plasmid cut into fragments, was separated using gel electrophoresis based on the charge and size.
Introduction
The first stage of DNA analysis for refined DNA such as gene expression and DNA sequencing is the construction of the DNA map. This has been done previously by scientists who used enzymes that are naturally occurring often referred to as restriction enzymes, to cut the large pieces of large molecule of DNA into small pieces. The fragments are then separated and sorted through the use of gel electrophoresis and the results obtained, they can be used to reconstruct the map of DNA molecule. This process is commonly referred to as mapping (Hughes and Moody, 2007).
This experiment was conducted using the restriction enzymes- restriction endonuclease- to manipulate the DNA molecules. The enzyme has the capacity to recognize specific DNA sequences, and cleaving the DNA at that specific site. The endonuclease will be used in conjunction with electrophoresis, which will be used to map 2, 686 base pair of the pUC 19 plasmid. The plasmid will be cut into fragments, which will be separated using gel electrophoresis based on the charge and size.
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Experiments (materials and methods)
Materials
Gel electrophoresis apparatus; Gel plates, comb to make wells, chamber cover, and chamber electrophoresis. Power supply with electrodes, deionized water, hot plate/ microwave, agarose, 250-Ml Erlenmeyer flask, and 100 ml graduated cylinder, pUC 19 plasmid DNA, restriction buffers, ice, restriction enzymes, molecular weight markers (lambda DNA), Ava II, Pvu II, gel loading dye (bromophenol blue), 15 1.5 Eppendorf’s, thermometer and metric rulers. Other common materials include, container that contains TBE solution, water bath (37 C), Floating rack, 60º C hot plate, cooler containing crushed ice, Polaroid camera with 667 Polaroid film, methylene blue stain, UV protective equipment, distilled water and non-frost free freezer.
Method
To make the Gel electrophoresis field, 1.0% of agarose was prepared as follows. To make 100 ml of gel, 1.0 g of the agarose was weighed and placed into the 250 ml glass beaker. 100 ML OF 1x TBE (Tris-Borate-EDTA) buffer was added. The mixture was heated in the hot pan for 30 seconds, shaking gently until all the agarose had melted completely. The solution was cooled and stored in a refrigerator.
The second day, pan was filled with water and was adjusted to 60 º C. The agarose was poured as follows; the agarose bottle that had been stored in day 1 was melted in the hot water bath. Firmly, the ends of the gel tray were sealed using a labelling tape, and a comb was placed on the slots, near the end of the tray, approximately, 40 ml of the agarose was poured in each of the tray, and was let cool for 15 minute to solidify.
During enzyme restriction stage, all enzymes and DNA aliquots were kept in ice. The four microtubes and reagents were labelled and stored as indicated below
Reagents
Ava II
Pvu II
Control
10 x Buffer
4 µl
4 µl
4 µl
DNA
4 µl
4 µl
4 µl
PvuII
0 µl
2 µl
0 µl
Ava II
2 µl
0 µl
0 µl
Water
30 µl
30 µl
30 µl
The micropipette was set to collect 4µl and 4 10X restriction buffer to each of the tube. The similar process was followed to load 4.0 µl of DNA, but using a different tube, to the control tube, 32 µl of distilled water was added whereas in the other reaction tube, 30 µl of distilled water was added.
The microtubes caps were closed and were heated in the 55 ºC for 10 minutes and were placed immediately on ice for 2 minutes. 2 µl of the appropriate restriction enzymes were added as shown in the grid above. The microtubes caps were closed, tapped the tube gently to bring all the liquid to the bottom, and were incubated overnight at 37 C.
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To run the electrophoresis, the tubes were collected and placed in the ice tubes and the gel electrophoresis field was set up. The microtubes were heated in 60º C water bath for 3 minutes. 4 µl of the loading dye was added in each of the reaction tube. 20 µl of each sample was loaded in the well, and the current was turned on for 30 to 45 minutes. The gel was stained using the methylene blue solution in 0.1 TBE and was stained for 2 hours at room temperature. Observations were made and photograph was taken.
Results
There were several errors that we done during the preparation of the gel electrophoresis field. The first preparation did not gel, and the mistake could not be traced. This led to preparation of the second gel, which eventually worked perfectly. The loading of the DNA was also somewhat troublesome due to shaking of the hands, but I managed to pull it off, with the assistance of laboratory technician and my peers.
The following observations was made
1=2-log DNA (0.1-10 kb) molecular weight marker
2=pUC19 digested with AvaII, at 2464bp and 222bp
2 cuts =pUC19 digested with PvuII at 2364bp and 332 bp
4 cuts =pUC19 digested with AvaII and PvuII at 2464 bp, 2364bp, 332 bp and 222bp.
The control field had no fragments. Thebase pair at which the cuts occurred is almost the same number as those predicted by the pUC 19 maps.
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Discussion
The pCU19is a 26866 base pairs, and thus its kb can be estimated to be 2.7 kb. It is small, and a high copy number in E.coli plasmid, which contain pBR322 and M13MP19. It has multiple cloning sites, where each unique enzyme can cause restriction, thus facilitating the recombinant technology (Omoto and Lurquin, 2004).
The microtubes containing DNA were heated ath 60C to break hydrogen bonds at the end of the linear DNA. Addition of the dye also stopped the restriction reaction from taking place. After running the gel electrophoresis, DNA being negatively charged, it migrated towards the cathode, inform of bands of specific size. The controls had no fragments because the DNA was not digested by any restriction enzyme (Twyman, 2009).
The following observations were made; there were two cuts when pUC19 was digested with AvaII, at 2464bp and 222bp. This was also the same when pUC19 digested with PvuII, and the cuts were estimated to be at 2364bp and 332 bp. In double cleavage, a total of 4 cuts were observed when pUC19 was digested with AvaII and PvuII at 23640 bp, 2464 bp, 322 bp and 222 bp.
The control field had no fragments. The cuts are almost the same base pair number as those predicted by the pUC 19 maps. However, when compared the results from the attached pUC 19 map, the AvaII points should be digested at 1837 bp and 2059 bp, whereas, PvuII at 306 bp and 628 bp. The minor deviations could be associated with accuracy of recording the base pairs. The 4 cuts obtained by the double digests indicate that restriction enzymes recognize DNA sequences and cut them at that site (Twyman, 2009).
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Conclusion
The study objectives were achieved, restriction activity took place. This technique is a very important technique as it helps on interacts with the basics of cloning techniques and tools used in molecular biology.
References
Hughes, S. and Moody, A. (2007). PCR. Bloxham: Scion.
Omoto, C. and Lurquin, P. (2004). Genes and DNA. New York: Columbia University Press.
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Genetic Counseling
With the increase in knowledge around genetic issues, it is important that all healthcare providers are prepared to have thorough genetic-based discussions now with their patients. In this assignment, you will synthesize your knowledge into a client case with a real or potential genetic health-related illness. • Use the Surgeon General’s Family History Tool at http://www.hhs.gov/familyhistory/portrait/index.html to complete this assignment.
Directions:
Write a 1,000 word paper addressing a client case that might benefit from the process of genetic counseling.
-Describe the reason for the genetic counseling based on the findings from your completion of the history tool.
-Discuss the possible reactions the patient may have to your counseling and how to avoid negative reactions.
Imagine this assignment as if you are giving this counseling to a patient. Discuss the following:
Health.
Prevention
Scr: eening
Diagnostics
Prognostics
Selection of treatment
Monitoring of treatment effectiveness
Genetic Counseling
Genetic Counseling: Introduction
Diabetes mellitus is considered a lifetime condition which inhibits the body’s capability to regulate metabolic glucose levels. Basically, it is divided into two categories that are; diabetes mellitus type 1 and type 2. Symptoms of type 1 occur after the destruction and damage of cells found within the pancreas leading to a deficit in the production of insulin. In diabetes mellitus type 2, insulin is produced, but it is either not enough or not effective at all (Hivert, Vassy, & Meigs, 2014). As an integral pillar of managing patients suffering from diabetes mellitus, genetic counseling is an aspect that should not be overlooked.
Reasons for Genetic Counseling
The patient is a 37-year-old African American male. The patient’s father passed away three years ago when he overdosed anti-diabetic medication. The patient’s mother was diagnosed with diabetes mellitus three years ago and has developed a diabetic foot complication. The client weighs 120.0 kilograms and his height is 1.4 meters. Diabetes mellitus is a disorder that has been associated with familial inheritance.
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The genetic factors responsible for causing diabetes mellitus are believed to be located from HLA regions within chromosome 6p21 (Hivert, Vassy, & Meigs, 2014). The protein sequences are inheritable factors. According to the family’s history, the patient is at risk of developing diabetes mellitus. A significant reason for genetic counseling is to create awareness. Through genetic counseling, the patient is expected to appreciate the fact that the condition can run across generations (Kaveeshwar & Cornwall, 2014).
Possible Reactions from the Patient
During the process of counseling, a patient’s reaction is either positive or negative. Positive feedback from the patient acts as a trajectory method to determine the cooperation of the client. The cooperation from the patient is determined by the patient’s mood and response (Anstee, Targher, & Day, 2013). In order to avoid negative reactions, a health worker is expected to first assess the patient’s mental well-being. For example, a depressed patient is most likely to respond negatively during genetic counseling (Anstee et al., 2013).
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The genetic counselor is expected to approach the client in a professional manner to avoid unnecessary predicament. Establishing rapport allays anxiety. In addition, the patient should be given time to present any ideas that might be necessary for the discussion. Appreciating any effort made by the patient to ask questions is also critical in managing negative feedback from the client.
Health
The ability of an individual to manage and adapt to mental, physical, psychological and spiritual well-being constitutes the health aspect of the individual (Anstee et al., 2013). A chronic illness like diabetes mellitus negatively affects the psychological status of any patient. Therefore, while providing counseling, mental, physical, psychological and spiritual well-being of the patient should be continuously assessed.
Prevention
The prevention of the occurrence and diabetes mellitus and the associated complications of diabetes will be undertaken in three stages including; primary, secondary and tertiary preventive measures. During primary prevention, the patient is educated on self-management and administration of insulin (American Diabetes Association, 2014). Secondary prevention is crucial for the patient diagnosed with diabetes mellitus.
Insulin administration and a change of lifestyle are two key pillars in improving the quality of life for diabetic patients. Dietary modification and engaging in physical activity for a specific period of time a day are crucial for prevention of complications arising from diabetes mellitus.
Screening
The process of screening involves coming up with a strategy to identify a condition which might have not manifested with signs and symptoms. The patient will be screened based on the presenting symptoms. The patient will be assessed on the level of blood glucose, the urinary functioning, the amount of water and food taken. The objective of the assessment is to identify the symptoms such as increased thirst, hunger, and the rate of urination.
The level of glycosylated hemoglobin is also part of the screening process in diabetes mellitus case. In the case scenario encountered, screening other family members is significant (American Diabetes Association, 2014). The unrecognized clinical manifestations among the siblings are identified through screening. In order to prepare in advance on dealing with the complications of diabetes mellitus, the process of screening is required.
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Diagnostics
Diagnosis is the process of coming up with the exact condition that the patient presents with. A patient is diagnosed with diabetes mellitus if the random blood glucose is 11.0 mili-moles per liter in cases with hyperglycemia, or oral glucose tolerance test of 11.0 mili-moles per liter or a fasting blood glucose level of 7.0 mill moles per liter. The management approaches for diabetes include self-insulin administration, physical activities, nutritional aspects and a general change in lifestyle (American Diabetes Association, 2014).
Prognostics
Aggressive management of the symptoms of diabetes mellitus includes prevention of complication like diabetes ketoacidosis. Control of the blood sugar results into control of micro-vascular complications of diabetes mellitus. Further, research studies have shown that the control of the level of glycosylated hemoglobin is associated with a reduction in the number of cases of mortality among diabetes mellitus patients. In order to prevent uncertainties, the patient needs to be advised to regularly administer insulin and monitor the glucose levels (Scirica, Bhatt, Braunwald, Steg, Davidson, Hirshberg, & Cavender, 2013).
The Selection of Treatment
Selecting the method of treatment will depend on the blood sugar levels of the patient. Other than insulin, other diabetic drugs like glibenclamide and metformin are prescribed based on the severity of presenting symptoms (American Diabetes Association, 2014). Administration of the drugs is preferred only in cases where the recommended lifestyle change fails to correct the blood sugar levels and associated symptoms. Furthermore, the dosage of drugs administered depends on the level of sugars present in circulation.
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Monitoring of Treatment Effectiveness
Monitoring involves making keen and observant follow up on the patient’s adherence to lifestyle modification, medication, participation in physical exercises and nutritional modification. The client will be educated and instructed to measure the glucose level by use of glucometer on a daily basis. The reduction of sugars in the blood will imply that the client positively responds to drugs, and other management approaches.
The medication dosage will be adjusted according to the level of glucose levels (American Diabetes Association, 2014). For example, an increase in the blood glucose level above 7.9 mili-moles per liter requires the use of high potency anti-diabetic medications.
In conclusion, diabetes mellitus is a lifelong condition which needs proper and well-structured management. A collaborative approach among the health workers, the patient and family members is necessary. As part of management on counseling, effective familial history is necessary.
The patient’s reaction expected during counseling is either of positive or negative feedback. The condition requires the combination of genetically oriented measures. The level of blood sugar in diabetes mellitus determines the screening, diagnosis, prognosis, treatment selection and measurement of treatment effectiveness.
Anstee, Q. M., Targher, G., & Day, C. P. (2013). Progression of NAFLD to diabetes mellitus, cardiovascular disease or cirrhosis. Nature Reviews Gastroenterology & Hepatology, 10(6), 330.
Hivert, M. F., Vassy, J. L., & Meigs, J. B. (2014). Susceptibility to type 2 diabetes mellitus—from genes to prevention. Nature Reviews Endocrinology, 10(4), 198.
Kaveeshwar, S. A., & Cornwall, J. (2014). The current state of diabetes mellitus in India. The Australasian medical journal, 7(1), 45.
Scirica, B. M., Bhatt, D. L., Braunwald, E., Steg, P. G., Davidson, J., Hirshberg, B., & Cavender, M. A. (2013). Saxagliptin and cardiovascular outcomes in patients with type 2 diabetes mellitus. New England Journal of Medicine, 369(14), 1317-1326.
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