Without proper and effective treatment the death rate is expected to triple in the next fifteen years (Turkington 9). Seventy-five percent of those infected with the virus will develop chronic hepatitis and half of those people will develop cirrhosis of the liver Due to the fact that Hepatitis C is blood-borne there are many ways a person can contract HCV, and many types of people who are more prone to it than others. The most effective mode of transmission is when an infected persons blood gets into the bloodstream of another person. HCV can only enter the bloodstream by first getting through the protective covering skin, this is called percutaneous route. Common routes of infection include needle stick accidents among healthcare workers, shared needles that are used during body piercing, injecting illegal drugs, and tattooing (Turkington 19).
About eighty percent of all cases of hemophilia have an identifiable family history of the disease; in other instances, it may be attributable to a spontaneous mutation. Researchers recently discovered that the spontaneous mutation of the factor VIII gene in two children was due to the attachment of a foreign "jumping gene" that disrupted the blood-clotting ability of the factor VIII gene. Inheritance is controlled by a recessive sex-linked factor carried by the mother on the X chromosome. A probability of one in two exists that each boy born to a normal male and a carrier female will be hemophiliac and the same chance that each girl of this union will be a carrier. Of the children of a hemophiliac male and a normal female, all the girls will be carriers and all the boys will be normal.
A genetic disorder is a sickness caused by one or many abnormalities or absentees in the genes or chromosomes. One interesting genetic disorder such as cancer, are found genetic but, can also be caused and affected by many by environmental factors such as being exposed to asbestos which may increase the risk of lung cancer and many other cancers. While on the other hand most disorders like Williams Syndrome are genetic and are primarily rare and only affect a limited amount of people about one in every several thousand. Because it is a genetic disorder that is estimated between 1 in 10,000 people worldwide, primarily caused by a micro-deletion on the seventh chromosome is what indicates the disorder being Williams Syndrome. Because Williams Syndrome is very uncommon within a large crowd among people, the causes that are known to trigger the disorder are very few.
George Washington The genetic disorder I was told to research was the Sickle Cell Disease. I will explain what mutation causes this disease, the characteristics of it, and what has developed in the area of gene therapy because of it. The Sickle Cell Disease is an inherited disease. The gene for hemogoblin-S (which causes the disease) is the most common inherited blood condition in America; although most people only inherit one copy of the gene for HbS, while the other gene, hemogoblin-A, is normal, and can override HbS, blocking the disease. These people have the HbS trait, but not the disease, therefore leading a normal life.
Atrial Myxomas are closely related to an autosomal-dominant syndrome called Carney Complex (CNC). The Myxomas occur in the setting of spotty skin pigmentation and endocrinopathy. The molecular analysis shows that mutations in PRKARIA are responsible in up to two-thirds of patients with CNC. This syndrome is genetically heterogeneous and is caused by a defect in more than one gene. Unlike CNC, most Atrial Myxoma cases are sporadic.
Conformational diseases are classified as diseases that result when large amounts of mutant protein accumulate without being efficiently destroyed. Currently, there are a wide variety of these types of diseases. A number of these diseases are neurodegenerative disorders and dementias. The most common types of these diseases include Alzheimer’s disease, Huntington’s disease, and Parkinson’s disease (Sanders & Bowman, 2011). However, these diseases can also include more subtle modifications and these tend to be rare.
CF is carried as an autosomal recessive trait. This implies that in order to exhibit CF, both the mother and the father must carry and pass the defected gene to the child. Through carrier screening, researchers have determined that one in twenty-five Caucasians carry the gene for CF. Each time two carriers on CF conceive, there is a 25 percent chance that their child will have CF, a 50 percent chance the child will be a carrier of the defected CF gene, and a 25 percent chance that the child will be a non-carrier of the gene. With such a small percent resulting in non-carriers, it is no wonder CF is the most common inherited disease ... ... middle of paper ... ...eved November 30, 2004, from http://www.cff.org/about_cf/what_is_cf/ Eubanks, M. (2001).
There are two types of hemophilia: hemophilia A and hemophilia B. This disease affects mostly males. Hemophilia A is the most common. Other names for it are classical hemophilia, and factor thirteen deficiency hemophilia. The bleeding disorder is caused by an inherited sex-linked recessive trait with the defective gene located on the X chromosome.
The onset of infection usually occurs in the first six months of life. Severe Combined Immunodeficiency is considered to be the most serious of the primary immune disorders. This set of disorders arises because of the inheritance of abnormal genes from one or both parents. The most common form is found in males, and is transmitted via an abnormal X chromosome, provided by the mother. The second most common defect is transmitted to the infant because both parents have contributed an abnormal gene governing the production of a cell enzyme (adenosine deaminase (ADA) or nucleoside phosphorylase) needed for the development of immunity.
Hemophilia is a rare genetic blood disease characterized by the inability or impairment of blood to clot or coagulate when a blood vessel is broken. This inherited disease is caused by an insufficiency of blood proteins, known as factors, which participate in blood clotting often by sudden gene mutation. Hemophilia can be characterized into three distinct types, including Hemophilia A, Hemophilia B, and Hemophilia C. Biologically, hemophilia is a unique genetic disorder that As a recessive sex-linked disorder, hemophilia is more likely to occur in males than in females. This is explained by females having two X chromosomes, while males have only one, so the defective gene is guaranteed to manifest in any male who carries it. As a result of females having two X chromosomes in their genetic makeup and hemophilia being rare, the chance of a female having two defective copies of the gene is very remote.