Mutation

history of a certain disease or belong in a group that has a high risk for carrying the genetic mutation that will cause the disorder. The results of this test will show if a couple that falls in the pool of candidates will have offspring with this genetic disease. Prenatal testing is performed on a fetus in-vitro to inspect its genome to see if it is predisposed to have a genetic disease or to detect mutations in its genome. This test can assist expectant parents in making informed decisions…

For so many people, genetic disorders are a major issue and can cause many emotional and physical problems. One genetic disorder is Celiac, this is a disorder in which your small intestines are not able to work properly.This disease was discovered when some men were digging and found a woman that had died from a problem in her small intestines. They discovered Celiac about 2000 years ago. During 250 A.D the doctors called this disease “ koliakos” this means “suffering in the bowls” in greek.The…

passed on to offspring during sexual reproduction. These are autosomes and sex chromosomes mutations in each determine. Some traits however can be harmful. An example of this are diseases that are present in an organism because of a mutation in the DNA of the ancestors of that organism. “An inherited disease is a disease that is transmitted in the genes of an organism inherits from its parents.” If mutations were to occur in certain chromosomes…

Normally in DNA replication, there are certain bases that are paired together. Adenine is paired with Thymine, and Cytosine is paired with Guanine. If any of these bases happen to match with an incorrect base, this is considered a genetic mutation, and can cause great harm to the DNA replication process. When this happens, repair proteins such as PMS2, MLH1, MSH2, or MSH6 help recruit an enzyme called EXO1. This enzyme breaks down the mutated segment of the DNA base pair in order for the pair…

activity. It’s inherited as an autosomal dominant, autosomal recessive, as well as an X-linked trait. A small percentage of people with this disorder have a mutation in the gene that codes for the β-subunit of the enzyme phosphodiesterase (PDE). To further understand the nature of this disease, we studied rd1 mice. These animals also have a mutation in the gene that codes for the β-subunit of PDE, leading to the degeneration of photoreceptors…

This memorandum is to inform you of my interest in joining the Peer Support Program. Below I have gone into great detail about my personal life, as I feel that it is important in choosing the appropriate individuals for this program. I truly believe having someone on the peer support team that has experienced personally the stresses that we come across and how to overcome stresses. Recently (with in the past year), I have had the opportunity to realize the toll that this profession takes on…

A mutation is any change in the DNA sequence. Sometimes a base is deleted or extra bases are added. Most common is a point mutation, where a single base is substituted for another, but some of these occur in the non-coding sequences and become a silent mutation. When a DNA change remains unrepaired in a cell, it is passed down to the offspring. However, most mutations result in recessive genes. Because humans are diploid, meaning that the individual has two sets of chromosomes from each parent,…

Description of Unknown Mutant Allele Phenotype Subtle differences were observed after comparing all body parts of mutant and a wild type D. Melanogaster. It was discovered that normal venation pattern was disrupted in mutant D. Melanogaster. The phenotype mutation (vein pattern) of D. Melanogaster was identified with a different degree of expressivity in mutant D. Melanogaster; this was achieved by differentiating the single line (longitudinal vein 5) on a wild-type wing which was disrupted.…

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. A person with Marfan syndrome is born with the disorder, even though it may not be diagnosed until later in life. The…

Epidermolysis bullosa can be a result of a mutation in one of ten genes (Varkie; et al., 2006). The most common mutations of epidermolysis bullosa simplex are associated with the K5 and K14 types of keratin. The K5 and K14 types of keratin are associated with very important intermediate filament proteins. When a mutation is present here, the basal keratinocytes become fragile and eventually rupture when acted upon mechanically. The K14 and K5 mutations are associated with epidermolysis simplex,…