Mutation

Drosophila melanogaster, or more commonly known as the fruit fly. Our main goal was to determine if our flies displayed an autosomal recessive inheritance pattern or an X-linked recessive pattern based on the two different mutations that were existing in the population. Those mutations include having vestigial wings, sepia eyes, or both. We started out with the parental generation being of the wild type, normal eyes, normal body and normal wings. When they crossed, we received an F1 generation…

types found and it passed down through the X chromosome. DMD is one of the most common muscle diseases found in early childhood. 1 in 3500 boys are born with DMD however very rarely affects girls with a 1 in 50million chance. It is caused by a small mutation in the DMD gene and it is inherited by families in an X-linked recessive fashion. Those who suffer from DMD generally lose muscle function which often occurs in weakness and mostly develops…

protein is also one of the main functions of PSEN2. This protein is found in the brain and other tissues. Changes in the Presenilin 2 gene can lead to problems and health conditions. The disease discovered is Alzheimer’s disease. This is caused by mutations in the PSEN2 gene. Early Alzheimer’s disease…

which are remnants of cancerous tumors found elsewhere in the body that were not treated in their previous treatments. Sorafenib is an oral kinase inhibitor of VEGF receptor, RET (includes RET/PTC fusion oncogene), and RAF (includes the BRAF V600E mutation). The inhibition of these pathways results in antitumoral effects, and has demonstrated progression-free…

responders to BH4 showed no difference in natural protein intake when compared to those who had responded in 24 hours. Genotypes were also a factor that showed BH4 responsiveness in this research. Those that had at least one genotype with at least one mutation known to be linked to long-term BH4 responsiveness showed a high rate of true response (Anjema et al…

Fibrosis, both parents must pass on the abnormal gene to the infant. Cystic fibrosis is caused by mutations in cystic fibrosis transmembrane regulator (CFTR) gene. This specific gene is located on chromosome 7. Patients with Cystic fibrosis cannot make sufficient CFTR gene or produce abnormal form of a CFTR gene. CFTR…

enzyme in our bodies. As children our bodies produced this active enzyme lactase (found in the small intestine), which allows for the breakdown of the sugar lactose that is present in milk. As adults this enzyme is shut off, but due to a genetic mutation in some people they “maintain the expression of this gene at…

spectrum. This light energy can interfere with the bonds which comprise the backbone of DNA by exciting the electrons in these atoms—leading to conformational changes which cause base-pair bonds to be broken, shifted, or replaced, causing genetic mutations, or abnormalities in the typical phenotypic expression of an organism. The purpose of this lab was to understand more about ultraviolet light as an agent of mutagenesis and become familiar with the manipulation of the single-celled fungus…

are one of the most recognized mutation related diseases caused by mutation of FBN1, AKT1, and LMNA genes correspondingly. If we go through the Clinical features and systemic involvements of these mutations, we can find common involvement of musculo-skeletal system, cardiovascular system, eye, and nervous system. In musculo-skeletal system, deviations of spinal curvature, abnormalities in the extremities, skull, and facial bones are reported in all the three mutations. All cause abnormal flexion…

ABSTRACT The following is a case study of cohort of patients who were suffering from rare autoimmune disease, Fissure Syndrome . Fissure Syndrome is due to the mutation which effects immune functioning and which causes depletion in blood-brain barrier which does not allow the blood flow into the brain or nerve cell. One result of fissure syndrome is that the person can have frequent blackout and bleeding from nose. For many people the conditions can be severe as well as can prove fatal. The…