X-Linked Frequency Report

Words: 424

Pages: 2

Open Document

Introduction X-Linked Severe Combined Immunodeficiency (XSCID) is a fatal condition where the Interleukin 2 Receptor Gamma (IL2RG) gene on the X chromosome is mutated, and this does not allow for the body to produce enough or any T cells and natural killer (NK) cells (Citing 8, 11). Both T cells and NK cells are in the body to fight off unwanted antigens in their own ways. T cells focus more on attacking, while NK are more of the killers, hence the name. Also all B cells are produced, even with the mutation, in the normal amounts, if not in excess, but typically do not function properly (12). This matters because B cells make necessary antibodies to fight infections. This change occurs because when the IL2RG gene is mutated it cannot properly encode the γ chain which doesn’t allow the receptors for interleukins to function (8, 9, 11). …show more content…
This is because, for a female to have both of her X chromosomes mutated is very unlikely, especially since this is a recessive trait (nih.gov). A female may carry one mutated X chromosome without knowing it, because she will never experience symptoms from it. But there is testing now to see if females carry the gene or not. Having a test would also greatly improve factors of treating and diagnosing early on to help prevent deaths of the males born with XSCID (13).
In almost all cases XSCIDs isn’t found until after birth, which leaves parents with few options if they want their child to survive. The most common and highly recommended treatments are either gene therapy or a bone marrow transplant (12). These are both risky and can be a burden on the family, yet without a treatment living an immunocompromised life is very difficult, if not impossible. That is why in more recent case studies finding in-utero treatments have proven to be more effective which is what there should be a push to move

my essay

with increasing energy linked to increasing frequency Students investigate the intensity of light at increasing distance Multimedia science school / sunflower demonstration www.rm.com/shops/rmshop/ product.aspx?cref=pd952460&srcurl=/mss Data loggers and light sensors. Graphs to show the inverse square law for more able students. Possible investigation as preparation for controlled assessment. Specification links: P2.1.4. understand that the higher the frequency of an electromagnetic radiation…

Words 3884 - Pages 16

Cleft Palate

A cleft of the lip and/or palate (CL/P) occurs in 1 child per 1000 births, making it one of the most common birth defect (Carol, 2). However, the rate is affected by whether a cleft occurs in both lip and palate or only in the lip. The frequency also changes with the different ethnic and geographic regions. A cleft lip has a gap in the lip where the muscle, skin, and lining are missing in which the nostrils are stretched in one direction from the pull of muscles from one side of the face Cleft Lip…

Words 1138 - Pages 5

ien 363 Essay

etc.) - direct project overhead: tied to deliverables or work packages (salary of PM, temporary rental space, etc.) - applied as a percentage to materials and labor - general and administrative overhead: organizational costs not directly linked to specific project - carried for the duration of project - ex. advertising, accounting, etc. - applied as a percentage of total direct cost - labor costs: hiring and paying the various personnel involved in developing the project…

Words 1959 - Pages 8

Essay about Kidney Cancer

cancer Tests and procedures used to diagnose transitional cell kidney cancer may include: * X-ray imaging of your urinary system (excretory urogram). X-rays of your urinary system may show signs of cancer. Your health care team will inject a dye into a vein in your arm. The dye is processed by your kidneys and your urinary system, and the dye makes it possible to see your urinary system on an X-ray. * Looking inside your bladder (cystoscopy). Your doctor may use a long, narrow tube called…

Words 2542 - Pages 11

Research Flo Ni Essay

FLORENCE NIGHTINGALE AND IMPACT OF HEALTHCARE ENVIRONMENTS RESEARCH The Legacy of Florence Nightingale’s Environmental Theory: Nursing Research Focusing on the Impact of Healthcare Environments Terri Zborowsky, PhD, EDAC ABSTRACT OBJECTIVE: The purpose of this paper is to explore nursing research that is focused on the impact of healthcare environments and that has resonance with the aspects of Florence Nightingale’s environmental theory. BACKGROUND: Nurses have a unique ability to apply their…

Words 6249 - Pages 25

The Problem of Decline in Bee Population Essay

show an eventual rise in peptides count. This perhaps suggests that Nosema and the IIV work together to help cause CCD. The orange line representing the forager bees were infected with both the pathogens. It shows that the numbers died from 15.1 x 103 to 0.2 x 103 within a period of 14 days. This method is appropriate because an observation over a period of months would allow the scientist to see what their natural behaviour is like before the infection. However, the infection would allow the scientists…

Words 3931 - Pages 16

CLEFT LIP PAPER

including cleft lip and cleft palate are among the most common human birth defects reported worldwide. Statistics indicate that these abnormalities are reported in 1 of every 700 live births with Asians and American Indians reporting the highest frequencies, often 1 in 500 live births (Murray, 2002). Although genetics have been implicated in the development of cleft lip, the etiology of the condition is highly complex (Yu, Serrano, San Miguel, Ruest & Svoboda, 2009). In an effort to provide a more…

Words 1675 - Pages 7

Cj 216 Uncle Bob Assignment Essay

How the Police Access Data to Obtain Criminal Information Tammy Mills CJ216-01 November 15, 2011 Carter Schoenberg How the Police Access Data to Obtain Criminal Information Law enforcement communicates between every state in the United States. Each state uses different programs which makes up different types of databases, and keeps track of just about everyone who has some sort of identification. A drivers license is the most common form of identification, and everyone in the United States…

Words 2555 - Pages 11

Essay on Psychology Definitions

121 – Test Two Personality – An individual’s characteristic style of behaving, thinking and feeling (Characteristics) – honesty, anxiousness, moodiness, etc Measuring Personality: Can be classified into 1) Personality Inventories Self-Report – A series of answers to a questionnaire that asks people to indicate the extent to which sets of statements or adjectives accurately describe their own behavior or mental state Minnesota Multiphasic Personality Inventory (MMPI-2) – A well-researched…

Words 2252 - Pages 10

Dynamic Range Of Vertebrate Retina Ganglion Cells

the retina in vertebrates do not benefit from this because they have simple dendritic structures. 3. 3 pts. Use a flowchart diagram to outline the main steps of the experiment and briefly describe the purpose of each step. (The goal is not to report procedural details but rather to show understanding of the rationale behind the experimental design). Single Cell Models They worked with a sample of 20 morphologically reconstructed, three-dimensional ganglion cell models from the tiger salamander…

Words 1404 - Pages 6