Review Questions # 5 2. Distinguish between autosomal dominant and autosomal recessive disorders and provide a couple examples of each. When dealing with genetic disorders its important to understand how they are inherited. There are two ways a child can inherited a genetic disorder from their parents. Autosomal dominant disorder is where one parent has a genetic disorder in which it has already manifested such as familial hypercholesterolaemia, marfan’s syndrome, and achondroplasia(dwarfism) and this dominant gene is inherited by their child who will also develop the disorder.…
In the speech titled 'Family Medical Histories: A Proven Lifesaver' the author, Steven Harris, puts forward that the medical profession does not pay enough attention to the patient's family medical histories. He argues this lack of attention is the culprit in the misdiagnosis of hundreds of patients as most are hereditary diseases. Much truth lies in the argument posed by Harris because there have been genetic links found between generations of carriers of diseases. However, Harris overlooks other scenarios for the contraction of the diseases mentioned in the article.…
Additional testing may be necessary to determine the direct source of the mutated gene. Determining whether the mother or the father is the host of the mutated genome source can prove to be rather critical to further determine the severity of the child’s…
Some patients have a genetic predisposition to developing the disease. Other…
Alpha 1-Antitrypsin Deficiency Alpha-1 antitrypsin deficiency is caused by mutations in the serpina1 gene on chromosome 14. The serpina1 gene codes for the Alpha-1 antitrypsin (AAT) enzyme which is a protein that protects the lungs, and is made in the liver. This deficiency occurs when there is a lack of a protein in the blood called alpha-1 antitrypsin. Without the protection of this protein, the lungs are more sepetable to be attacked by neutrophil elastase. Neutrophil elastase is an enzyme that is made by white blood cells and it fights infections.…
There is always genetic testing that parents can do to see what their chances are of having the mutation. As said from the national organization of rare diseases. “Reportedly, the…
Cystic Fibrosis Presentation Cystic fibrosis is genetic disorder. It is an inherited disorder that can result in a severe damage to the respiratory and digestive systems. This disorder can affect the lungs, pancreas, intestines, liver and even the sex organs. Cystic fibrosis builds up a thick and sticky mucus in the lungs and other respiratory and digestive organs in our body. For an infant to be at risk of developing Cystic Fibrosis, both parents must pass on the abnormal gene to the infant.…
Charcot-Marie-Tooth-disease or (CMT) is a disease classified as a group of inherited Neuro muscular disorders that lead to muscle loss in arms and legs. It is linked to a duplication in the 17 chromosome. Many doctors believe that the only way to get this disease is by getting it from your parents with a 50% (Explora) chance to pass it on. The symptoms of this disease include muscle loss in lower legs, hands and feet and loss of nerves to those parts of the body and linked to foot deformities. CMT also does not affect your life span at all.…
Since the disease is passed from parent to offspring, the male offspring of a carrier mother has a 50% chance of receiving the trait, and 50% of the female offspring will become carriers of the disease.…
In the past five years, scientists have identified a number of rare gene changes or mutations that are now connected…
Mutations in the DMD gene, which creates dystrophin, causes Muscular dystrophy. Dystrophin is located in the skeletal and and cardiac muscles. Alterations or mutations in the gene make it so little to know dystrophin are produced, causing Muscular Dystrophy. Without enough dystrophin muscles contract and get damaged. (2015)…
They are investigating dozens of bacteria and viruses to see if they are involved. The genetic factor is not hereditary. They believe having a first-degree relative increases one's risk for the disease. None of these are a fact however researchers are working hard to help find what may be causing it so they can then go on to help find a…
Although symptoms of CMT can vary from individual to individual, there are common symptoms of CMT that are prevalent. Early signs of CMT are commonly noted in children or infants that are clumsier and have difficulties trying to walk because they have trouble lifting up their feet (Charcot-Marie-Tooth (cmt), 2015). This early symptom can be accompanied with weak leg muscles and fatigue. Young children who have difficulties picking up their legs to begin walking may have early signs of foot drop. Foot drop is when individuals have difficulties lifting their feet at the ankle (Charcot-Marie-Tooth (cmt), 2015).…
Growing up and to this day, I always question the probability of whether or not I inherited the gene from my mother or if constantly being surrounded by…
Marfan syndrome was named after the founder, Antoine Marfan in 1896, the syndrome is a genetic disorder of connective tissue. Individuals who are diagnosed with Marfan syndrome typically have lengthened limbs ; they are tall and thin with long arms and legs. This disease can either be mildly or severely life threatening, depending on the individual. Marfan Syndrome is caused by a defect, or mutation, in the gene that determines the structure of fibrillin-1, a protein that is an important part of connective tissue.…