Nonsense mutation

being in the health field is science if you want to be a paramedic your going to need to know how to keep the body alive till the doctors are able to. being a paramedic you're going to need to know how much medicine your patient needs or how the patient will still be alive when they get to the doctor. Anything in the health field is science. if you wanted to be in diagnostic services that would involve treating a problem through monitoring problems and following up on any abnormalities like…

and locus: Cystic Fibrosis is caused by a mutation in the cystic fibrosis transmembrane conductance regulator gene (CFTR; 602421). The gene is located on the long (q) arm of chromosome 7 at position 31.2. There are 5 different mutations of this gene that can cause cystic fibrosis. Frequency: 1 in 2500 newborn infants are born with cystic fibrosis. In 2013 just over 10,000 people were recorded to have cystic fibrosis in the UK. The most common mutation of the CFTR gene is Δf508. It is…

to be a mutation, the checkpoints could destroy the cell. However, like most things, there are a few cells thaat contain mutations that pass through the checkpoints. The cells who pass through and reproduce uncontrolably are called cancer. Cancer cells crowd out healthy cells making it harder to or unable to function. An eye cancer, for example, may result in the loss of vision in the affected eye. Retinoblastoma is a rare cancer that forms on the retina of the eye after a genetic mutation…

Pycnodysostosis, also called Toulouse-Lautrec Syndrome, is a rare genetic bone disorder that causes bones of individuals to be abnormally dense and has 1.7 occurrences per 1 million births (hindawi paper). The abnormal mutation of the gene that codes the enzyme cathepsin-K causes a disruption in normal osteoclast production. This disease occurs more commonly in male children than female children at a 2:1 ration (hindawi), but other factors such as age and race seem to show minimal differences.…

Nuclear Factor Kappa B as A Prognostic Factor in Nephrotic Syndrome and acute kidney injury Abstract: Background: Nephrotic syndromes and acute kidney injury (AKI) are very common diseases. Nuclear Factor (NF)-кB is a protein complex controlling the transcription of DNA. NF-кB is activated in tubules and glomeruli in various experimental models. Several studies have suggested that detection of NF-кB could be considered as a sign of renal injury. Objectives: This study aims to determine the…

Birth Defects and Childhood Cancer Birth defects are common across the United States and other countries. Studies show that Children with major birth defects, are at high risk of developing cancer during childhood development. Birth defects such as neuroblastoma, retinoblastoma and hepatoblastoma, all which typically develop in early childhood. These birth defects can be caused by several different reason which are associated with genetic factors as well as environmental factors. Most factors…

sixty-five hundred children across the globe are born with a serious mitochondrial disorder due to maternally inherited mitochondrial DNA. Not to mention the greater amount of mildly affected kids living with minor tweaks in their DNA. With mitochondrial mutations and diseases documented as early as 1988, our concerns for future advancements have raised eyebrows amongst the human race. Mitochondria lay within our cells right next to our…

then feels floppy in the muscles also in the face. They may also experience muscle jerks or twitches. Symptoms such as: muscle weakness, vision and brain structure abnormality, and severe mental disability. Muscle-Eye-Brain Disease is caused by a mutation of POMGNT1 gene. The gene makes a protein…

Epigenetics is the modification of the genome to regulate gene expression. This process is achieved through a variety of different mechanisms including but not limited to, chromatin condensation, acetylation modification, and methylation modification. Gene expression can also be altered through a number of non-epigenetic mechanisms, such as environmental factors, like temperature, and the introduction of endocrine disrupting chemicals (EDC) into the environment. The level of chromatin…

The four forces of evolution are mutation, gene flow, genetic drift, and natural selection (Wwnorton). What I understand about mutation is that it is a random change that sometimes is good or bad. Whenever I hear the word mutation I automatically think of the X-Men because they were labeled as mutants and had random mutations happen to them. What I know about gene flow right now is that its when properties from one party flows to the other party that did not have that property. In my mind…