DNA Translocation

This movie called My Sister’s keeper is a film that is all about a couple’s life that has a daughter named Kate. Kate was diagnosed with promyelocytic leukemia. Promyelocytic leukemia (PL) is a malignancy of the bone marrow in which there is a lack or insufficiency of mature blood cells in the myeloid line of cells and an excess of immature cells called promyelocytes. PL is due to a translocation (an exchange of chromosome material) between chromosomes 15 and 17 which is symbolized t(15; 17). This translocation is not a mere marker of PL. It is the cause of PL (MedicineNet, n.d.). Gordon’s functional health assessment pattern was use in this presentation. The patient’s culture, geographic, religious, ethnic or spiritual and sexual concerns

Jacobs regards to his diagnosis, prognosis, and treatment options. I explained to Mr. Jacobs that myelodysplastic syndrome is a hematopoietic stem cell disorder characterized by dysplastic and an effective blood cell production within the bone marrow and puts the patient at variable risk for transformation to acute leukemia. I explained to him that this disorder may occurred the Novo will rise after potentially mutagenetic therapy or environmental exposure to toxins. Patient's with MDS have variable reduction in the production of red blood cells, platelets, and mature granulocytes. In addition, these formed elements sometimes exhibit qualitative functional defects. These quantitative and qualitative abnormalities often result in a variety of systemic consequences including anemia, bleeding, and increased risk for infection. I explained to him that the pathogenesis of MDS is incompletely understood. The patient has already undergone a bone marrow biopsy and aspiration which was consistent with a myelodysplastic syndrome with excess blasts and transformation. The patient has already started growth factor support. My plan moving forward is to start the patient on Vidaza, which is a antineoplastic agent, DNA methylation inhibitor. The plan will be to start the patient on 75 mg/m2 per day for five days of Vidaza and repeat the cycle every 28 days. It is possible that he may develop worsening of his peripheral blood counts with

According to the National Hemophilia Foundation (n.d.), von Willebrand disease (VWD) is a genetic disorder caused by missing or defective von Willebrand factor (VWF), a clotting protein. VWF binds factor VIII, a key clotting protein, and platelets in blood vessel walls, which help form a platelet plug during the clotting process. The condition is named after Finnish physician Erik von Willebrand, who first described it in the 1920s (National Hemophilia Foundation, n.d.). The seriousness of the bleeding varied between family

When a tumor suppressor gene is effected by a mutation, it loses its control over the cell and the cell does not stop to get inspected. When this happens, the mutation is copied, the cell divides and damage is passed down to the newly formed daughter cells. The mutation then becomes permanent and the now mutated cell will continue to divide and proliferate when it normally would not.

Initiation of the common pathway requires the activation of Factor X and the formation of prothrombinase by the extrinsic and or intrinsic pathways.

If this disease causes such problems, one may wonder what causes it? Many fanatics of life science have established that hemophilia is the consequence of a mutation or change in one of the genes. This gene is the gene that provides instructions for making the clotting factor

Myelofibrosis occurs when a genetic mutation causes damage to a single blood-forming stem cell. As this cell grows and replicates, the mutation is passed on to the new cells. In time, the abnormal cells begin to affect the process of blood cell production and overtake the healthy cells. The key feature distinguishing myelofibrosis from other blood cancers is the overproduction

Myelodysplastic syndromes occur when blood cells are misshapen and dysfunctional. These syndromes generally do not cause symptoms in the beginning, but as they progress the signs and symptoms make themselves known. Some symptoms include shortness of breath or difficulty breathing, fatigue, pallor, petechiae, abnormal bleeding and bruising, and

This overgrowth of blasts, if severe enough is called acute leukemia. Myelodysplaatic syndrome are divided into 7 subtypes of MDS which are Refractory anemia(RA) the primary sign of RA is anemia the white blood cells and the platelets are both normal there’s less than 5% blast found in the bone marrow this type of MDS does not develop into AML, Refractory anemia with ringed sideroblast(RARS) people with this subtype of MDS have anemia, similar to people with RA except more than 15% of red blood cells are sideroblast. A sideroblast is a red blood cell where the iron is in the cell shows up in a ring around the center of the cell where the genes are found, it’s called the nucleus. The white blood cells as well as the platelet cell counts are usually normal people who have been diagnosed with RARS have a low risk with developing

When the activity of the GPI-anchored proteins is reduced the mutation is then able to develop into the dominant gene in the creation of red blood cells. The complement system then recognizes the red blood cells as foreign cells causing the complement system to attack the mutation and when this occurs, red blood cells are destroyed faster than the normal 120 day life span, which leads to the deficiency of red blood cells and all the nutrients that they carry. In PNH, the red blood cells are missing two of the complement regulating proteins that are needed for GPI-anchored proteins to attach them to the cell membrane and since the two proteins are missing a lot of the nutrients and are in a deficient amount, it can lead to hemolytic anemia, iron deficiency anemia, aplastic anemia, blood clots, myelodysplasia, acute myelogenous leukemia, and even

Myelodysplatic syndromes are a group of blood and bone marrow disorders. In MDS, the stem cells do not mature as expected, and the number of immature cells and abnormally developed cells increase, which then leads the healthy mature cells to decrease. So then that causes the bone marrow to not work well or stop working all together. Because of the decrease in the healthy cells, people with MDS often have anemia, a low red blood cell count or they may also have neutropenia, a low white blood cell count, and thrombocytopenia, a low platelet count. The chromosomes in the bone marrow cells may be abnormal, but sometimes the numbers of blood cells can be normal, while the blood and bone marrow cells are still abnormal. MDS is classified into several different subtypes, depending on blood cell counts, the percentage of blasts in the bone marrow, and the risk that

This disease is known as Wiskott–Aldrich syndrome. This disease is caused by the mutation of Wiskott–Aldrich syndrome protein (WASP) gene that results in the loss of WASP and disruption of actin filaments. This will affect white blood cells motility and can cause immunodeficiency. Some treatments and therapies can be effective to cure this disease (Cooper et al., 2003). Hematopoietic stem cells transplantation from a matching donor can restore white blood cells function. Hematopoietic stem cells include bone narrow and peripheral blood cells. Gene therapy is also an effective way to treat immunodeficiency. This therapy is done by engaging extracellular cytokine ligation to the gene that will modify the transcription program of the white blood cells, resulting in motile white blood

Analysis of DNA from practicals 1 and 2 using the technique of agarose gel electrophoresis and analysis of transfomed E. coli from practical 2 (part B)

In the book “My Sister’s Keeper,” there is a child named Kate who is diagnosed with Acute Promyelocytic Leukemia. After doing tests, her parents learn that neither them nor their son are matches for donors for Kate. They decide to genetically make a baby would would be a perfect donor match for Kate, who will be known as Anna. Anna’s main purpose is to help Kate, meaning donating blood, bone marrow, kidneys, etc.. With a plot twist at the end of the story, Anna dies from a car wreck while Kate who has a life threatening cancer survives.

A normal cell replicates and divides into two cells which in turn divide into four daughter cells and so on by DNA replication in mitosis. As the cell grows old, it dies because of the programmed cell death known as apoptosis. The dead cells are then replaced with new cells. However when the DNA of the cell is damaged, for example when there is a genetic change such as DNA mutation or defective protein synthesis, the cell becomes abnormal. It begins to divide uncontrollably and forms a growth (cancerous tumour), in contrast to the normal cell in which