Question #1- Factors that can be associated with complex inheritance disorder
Multifactorial inheritance disorders arise as a result of a number of multiple contributing factors may not be genetic in origin. Nutrition and diet …show more content…
Indeed, unhealthy diet and nutrition has been implicated in most chronic multifactorial diseases.
High cholesterol foods and food with high fat contents result in heart conditions as a result of deposition of the cholesterol and plaques in arteries causing their hardening and blockage of small arteries hence arteriosclerosis. This results in their necrosis hence heart attacks, myocardial infarction and stroke. Additionally, obesity and diabetes are caused by unhealthy eating and poor balanced diet (Gelb, & Chung, 2014). High calorie intake by individuals increases the propensity of developing certain cancers and cardiovascular conditions which are classifies as multifactorial health disorders. Diet defines every persons growth, development and general health therefore uncontrolled diet such as eating high salty foods, result in elevated blood pressure that cause complex disorders. Obesity and high sugar intake through diet causes diabetes, a complex inheritance
disorder. Pollution
Environmental pollution results in exposure to chemical radiation and toxins that cause complex inheritance diseases. Chemical radiation and toxins can damage an individual’s genetic make-up in DNA as well as affecting the immune system resulting in auto immune modifications on cellular genetics. These toxins are foreign to the immune system in the body hence can damage genes. Toxins, thalidomide and alcohols are teratogenic and can cause birth defects in pregnancy such as cleft palate by cell death, and genotoxicity. Carcinogens, mutagens and other toxins cause impaired cell functions in the body and result in several complex disorders for instance cancers, neural tube disorders, psoriasis and asthma. Heavy metal toxins such as mercury impair enzyme function and energy production causing multifactorial disorders. Exposure to Ultra violet rays and other forms of radiation are implicated in alteration of genetic nucleus of the body hence should be avoided. Sedentary lifestyle
Sedentary and unhealthy lifestyle causes multifactorial inheritance disorders. Truly, preventative causes of death as result of negative and unhealthy and too much comfort is dangerous to living. Lack of regular physical exercise, smoking, and alcohol use are sedentary lifestyles that an individual may live. Smoking and alcohol use may be considered luxurious but are in themselves dangerous. Smoke exposes an individual to toxins that accumulate in the alveoli damaging the respiratory system, immune system and can result in lung cancers and asthma that are complex inheritable diseases. Alcohol use damages the liver and impairs judgment causing neural diseases that may be irreversible. Heart conditions and obesity can be controlled by physical activity and exercises therefore lack of it has resulted in such multifactorial disorders (Vogel, & Motulsky, 2013). Drugs and medicines
Drugs and certain medicines result in weakening of the immune system and allergic reactions that are dangerous to a person hence contributing to complex inherited disorders. Hypersensitivity reactions from allergy caused by antibiotics result in asthma and granulomatous lung diseases. Indeed, bleomycin and amiodarone used in chemotherapy and heart disease respectively result in side effects such as inflammation that is often an indicator towards diseases. Multiple drug abuse and use of illegal drugs have also been implicated in the pathogenesis of certain diseases such as hepatitis and HIV.
Question #2- Compare two genomic tests used for screening, diagnosis, and management of complex disease and describe whether outcome data exists related to the utility of these tests and what the data shows
Two genomic tests used in screening and diagnosis are Polymerase Chain Reaction (PCR) and Restriction fragment length polymorphism (RFLP). Striem, Ben-Hayyim & Spiegel-Roy, (2015) point out that PCR is a technique that analyses short sequence DNA and can be used to amplify and reproduce sections of single copy DNA. It focuses on a segment of DNA that is chopped off and amplified for purposes of screening and diagnosis of a genetic disease. PCR makes use of two primers of DNA template which is amplified by the use of enzyme DNA polymerase that involves denaturation to open up double stranded DNA into two pieces of single strand DNA, annealing of the template and subsequent extension to amplify the copies of DNA at different temperatures in a cycler. On the other hand, RFLP is makes use of the variations in the homologous sequences of DNA by making use of the enzyme restriction endonucleases. RFLP in contrast to PCR uses probes as marker to a single restriction enzyme combination to detect presence of each fragment of DNA sequence after their digestion with the enzymes. The DNA samples are broken into pieces and digested by the enzyme then the restriction fragments separated and sorted according to their various lengths by gel electrophoresis (Hossain et al., 2016). While PCR is fast and require relatively small samples, RFLP is tedious, slow and requires very large samples to be carried out. In contrast to RFLP that can map a genome and determine the specific locus of the defect in a chromosome, PCR suffers from plateau effects such as self-annealing and reagent limitation hence unreliable endpoint quantification.
The current outcome data that exists on the utility of PCR and RFLP indicate a high concordance of above 80% as they allow for sensitive and more rapid detection of pathogens. Additionally, the data indicate that a high percentage of geneticists prefer both these methods quantitatively as they have a high relative scale of over 90% on sensitivity. The current data that exists on the methods are mostly adjustable and variable number tandem repeat and in dispersed multilocus hybridized manner. RFLP indicates that 115-234 different restriction fragments have been isolated from studies which represent a high number. The data on utility on both methods indicate a high performance, reliability and reproducibility level of over 0.9 in the relativity scale when used in comparison to screen genome.