Essays on Autosomal

Introduction

Migraine is a common type of headache disorder which is characterized by moderate to severe recurrent headache. Migraine headaches are generally severe and could last up to 3 days, wherein the pain affects half of the head but the pain is pulsating in nature. People with acute migraine headache may have suffer from sensitivity to light, vomiting, nausea, and sensitivity to smell and sound. In some cases, the pain may become severe and worsen after physical activity. In 1/3rd of patients with migraine, a short period of visual disturbance or aura occurs which is an indication that the pain ...

Introduction

Sickle Cell Anemia or Sickle Cell Disease is an inherited blood ailment. Those suffering from Sickle Cell Disease have abnormal S/ sickle hemoglobin in the red blood cells. Hemoglobin is the protein in the blood that aids in carrying oxygen throughout the body. The ailment takes its appellation from the shape of the red blood cells of a person affected by Sickle Cell Disease, which have the shape of a sickle. They are stiff and adhesive rather than a disk like normal cells. The misshapen cells tend to get trapped in the small blood vessels hindering the movement of ...

In 1872, the 22-year-old George Huntington presented a paper describing an elaborately outlined inheritance pattern of a disease, which during the time was referred to as "chorea." In his paper, which was presented at the Meigs and Mason Academy of Medicine at Ohio, George described all the features of the adult-onset form of the disorder and outlined the disease’s autosomal-dominant pattern of inheritance. Although the mechanism underlying the inheritance pattern of the disease was not understood until the rediscovery of Mendel’s works, his paper was so comprehensive that George Huntington quickly became widely acclaimed. In fact, he ...

Question 1

DNA replication can be defined as the process by which during cell division the DNA duplicates itself to several copies. In this process, the first step involves the unzipping of the double helix found in the DNA structure. This is done by the helicase enzyme, which breaks hydrogen bonds holding the DNA together. When separated the two DNA strands form a replication fork with a Y shape (Craig et al. 2014). This causes the strands to be oriented in different directions, forming the leading and the lagging strands. Once the two orientations are formed, a short RNA piece called ...

1. Explain in general terms the process of DNA replication. DNA replication refers to the process whereby DNA makes its own copy during the process of cell division. During this process, the DNA strands unzip themselves since helicase enzyme breaks the hydrogen bonds between the complementary strands. As this occurs, a replication fork is created. Each individual strand (leading and lagging) will be used as templates. A primer attaches itself to the leading strand and the synthesis of DNA begins, whereby DNA polymerase adds nucleotides to the synthesized strand. This is a continuous process and occurs in 5’ to ...

Part 1

Cystic fibrosis is a disorder that has been proven to have profound effects on the genetic makeup of an individual. This condition mainly affects the lungs and the alimentary canal. The other body organs likely to get affected by the disease include the kidneys, pancreas, intestines and the liver. It has been established that the condition compromises the functioning of the body cells responsible for the production of digestive, mucus and sweat juices (Mayo Clinic., 2016). Under normal circumstances, these cells are usually thin and slippery but if they become affected, the secretions they produce turn sticky and thick. ...

Trisomy

Chromosomes are marvelous things! They carry in their genes the entire genetic code required to build a human being. Comprised of nucleic acid (DNA) and proteins, twenty-three pairs of chromosomes located in the cell nucleus are needed for the normal development of a human embryo. However, sometimes things go wrong. This paper will discuss some of the consequences of faulty chromosome separation during fertilization, resulting in Trisomy. Trisomy is a chromosomal condition which occurs when three chromosomes, instead of the normal two are produced during cell division. This happens due to the failure of human chromosome pairs to separate ...

The purpose of this paper is to review the etiology, pathophysiology, clinical manifestations, inheritance patterns, and recent advances in disease management of cystic fibrosis. Cystic fibrosis is a progressive and lethal disease resulting from an autosomal recessive gene (Singh, Rebordosa, Bernholz, & Sharma, 2015). The major problem associated with cystic fibrosis is the repeated lung infections that over time severely damage the lungs, scar and widen the passageways and limit the ability to breathe (Cystic Fibrosis Foundation, n.d.). As of 2013, there are an estimated 70,000 cystic fibrosis patients globally with 33,000 of them in the United States ( ...

INTRODUCTION

There are many different conditions, diseases, infections and disorders that can negatively affect human beings, damaging their bodies, compromise overall health, diminish their quality of life and very often lead to the sufferer’s death. Polycystic kidney disease in one of these more serious conditions. Polycystic kidney disease is an incurable condition that encourages the growing of cysts which can overtake the kidneys, cause them to malfunctions and even fail all together. More than 600,000 people in the United States are living with polycystic kidney disease and the condition contributes to more than 5% of all cases of ...

Abstract

This paper is about the investigation of Parkinson’s disease, and in particular is involved with the examination of its symptoms, stages, causes, prevalence, diagnosis and treatment, and social impacts. Finally, the paper analyzes and evaluates two ongoing on Parkinson’s disease researches, which are also examined in respect to their impact on Parkinson’s disease patients. Key words: Parkinson disease, Parkinson disease causes and impacts, Parkinson disease symptoms and prevalence, Parkinson disease diagnosis, and Parkinson disease ongoing research.

Idiopathic Parkinson disease (PD) is a progressively evolving disease with main manifestations resting tremor, muscle stiffness, slow movement and loss ...

Lis Rodriguez

Lab 1 ASA College Abstract Patau’s syndrome is a rare genetic disorder that involves trisomy 13. The condition is characterised by either an extra copy of the autosomal chromosome number 13 or a translocation to chromosome 13 from another chromosome. There are severe symptoms observed in the unborn and newborn children having this defect. Polydactyly, cleft lips, physical retardation, mental retardation, heart defects are few of the many symptoms. The disease can be diagnosed during gestation via screening methods followed by several analytical procedures like FISH, karyotyping and microarray on samples of blood and serum from the pregnant ...

Abstract

In the following case-study, Joshua is a newborn infant presented by his parents Samuel and Rachel to the pediatric outpatient unit of Robertsbridge, Sussex for screening and medical advice for sporadic vomiting at the time of breast feeding and seizure-like episodes. Samuel and Racheal also report sweet odor in the urine and loss of weight. Blood tests demonstrated increased concentrations of leucine and isoleucine. Genetic testing on the skin biopsies reveal mutation at Exon 6, c.659C>T of the of BCKDHA gene with a protein level p. A220V and Joshua exhibits about 1.5 % lesser than normal deficiency in the ...

Sickle cell anemia is a genetic disease, passed on from parents to children along the generations. It is a condition which causes severe pain and anemia. It happens when the body lacks healthy red blood cells to circulate oxygen in the body. The usual shape of the red blood cells is round, and they are flexible so they can pass through the narrow blood vessels of the body. However, sickle cell anemia causes them to become sickle-shaped, like tiny crescents, which are sticky and inflexible. This restricts their movement in the blood vessels causing them to get stuck in ...