DNA, Genes and chromosomes

DNA, Genes and chromosomes Introduction Assignment two will firstly explain about DNA, genes and chromosomes. It will then evaluate some pre- disposed genetic factors that affect normal human functioning and look a range of different diseases. It will then evaluate pre-disposed environmental factors that may also affect normal human functioning and discuss another range of diseases. Genetic information is contained in nucleic acids, which are the molecules that hold the information. All living cells and viruses contain information and there are two types of nucleic acid, deoxyribonucleic acid (DNA), the self replicating genetic material in living cells and ribonucleic acid (RNA). The structure of DNA was worked out by Watson and Crick in the 1950s. Nucleic acids are made of units called nucleotides and an individual nucleotide is in three parts which combine by condensation reactions. These are phosphoric acid, pentose sugar, which in DNA is deoxyribose and in RNA ribose and there is an organic base comprising of five and divided into two groups. The DNA is a double stranded polymer of nucleotides (polynucleotide) comprising of many million nucleotide units. Its structure is in the form of double helix which is maintained by hydrogen bonding and it contains four organ bases, adenine, guanine, cytosine and thymine. A gene is the unit of heredity, comprising of a length of DNA that influences an organisms form and function. The protein produced when a gene is expressed produces a characteristic and each gene occupies its own position on the chromosome called the locus. Different forms of the same genes are called allele and there may be different alleles of the same gene with slightly different DNA structure. The chromosome is one long coiled DNA molecule which has genes dotted along its length. The genetic material of each cell is packaged together in the nucleus as chromosomes and each one of these contains very long DNA molecules. The human body has 46 chromosomes and in each body cell the chromosomes are in pairs, called homologous and a full set of chromosomes is called the karotype. Chromosomes make copies of each other so that when they divide, each daughter cell receives an exact copy of the genetic information. This is called replication and results in two DNA molecules. The Human Genome Project started in 1990 and it was a huge task to determine the order of bases in the human genome as well as identifying all the genes formed by the bases. Its other aims were to find the location of the genes on the 23 chromosomes and store the information on a data base. The purpose of collating the information was for scientists to know which sections of DNA, on which chromosomes are responsible for many inherited diseases. The main uses of genetic testing are in carrier screening, pre-implantation genetic diagnosis, new born baby screening, and for prediction testing of onset disorders such as Huntington disease, onset cancers and Alzheimers disease. Using a sample of DNA it is possible to find out whether a person is carrying a faulty gene which causes a disease such as cystic fibrosis, or to identify genes that play a contributory role in diseases such as breast cancer. From results it is possible to eliminate all risk of the disease by correcting the faulty a llele. Sexual reproduction produces genetic variation amongst individuals in a population. Mitosis is when cell division takes place and it results in growth or repair of body tissues which is not to be confused with Meiosis which is the cell division that produces gametes (sex cells). In mitosis, one cell divides into two identical cells and in meiosis one cell divides into four daughter cells that a genetically unique. A species must change to its environment if it is to survive and the genotype of an organism gives it the potential to show a particular characteristic. Characteristics that are determined by a number of genes are called continuous variation such a height and characteristics that are clear cut are by a single gene are called discontinuous variation. The origins of variation are either non-inheritable or heritable. The environment has a huge role in determining phenotypic variation and factors in humans can include diet and exercise. Heritable variations are when an organism, for example, inherits genes which will determine its eventual size, although this can depend on nutritional influences. Monohybrid inheritance is when a characteristic controlled by a single gene is passed on from one generation to another. Examples of genetic diseases that are passed on in this way are Huntingtons disease and cystic fibrosis. The gene can be either dominant or recessive. Huntingdons disease is due to a mutation in a single gene that occurs on chromosome 4. Every cell nucleus has two copies on the gene and the codes for the protein are Huntingdin. People who develop the disease carry a mutation in one of copy of the Huntingdin gene. Huntingdin is concentrated in areas of the brain and that degeneration of the gene is called Huntingdons disease. Huntingdons disease is rare but another more common disease is cystic fibrosis which is caused by a recessive allele. To inherit the disease both parents have to be carriers of the defective alleles. In the UK one person in 2000 suffers from this condition and people that develop the disease produce a thick sticky mucus from the epithelial cells lining some passages in the body. The pancreatic duct can become blocked so food digestion can not complete and the bronchioles and alveoli of the lungs can become blocked. The normal allele of the cystic fibrosis gene makes an important protein called CFTR. Normally CFTR will transport chloride ions through the plasma membrane, however, the mutated allele causes production of a channel protein that does not transport the ions so the person who is homozygous suffers from cystic fibrosis. The full amount of alleles and their combination a person has is called their genotype and some of these are recessive and some dominant. The effect that these alleles have is called the phenotype. Different alleles of a gene do not have to be recessive or dominant and if two alleles both produce a protein that can function then the alleles can be codominant. An example of a disease that is codominance is Sickle cell anaemia, where a mutant allele of a normal haemoglobin gene causes one amino acid in the two beta polypeptide chains to be different. The shape of the molecule is altered and the red blood cells can be crescent or sickle shaped. These can be easily damaged and the number of working cells decreases the amount of oxygen going to the tissues. The heart works harder and the defective cells join together making the blood sticky. This can result in many side effects including kidney failure, heart attack and strokes. The spleen is over burdened and can stop its ability to remo ve bacteria from the blood so infections can be common. Another type of faulty cell division is called non disjunction where the daughter cell receives two copies of a chromosome and the other gets none. This can result in the condition called Downs syndrome where chromosome 21 is affected. The genetic condition is known as trisomy, where a person inherits an extra copy of one chromosome. People with the syndrome have three copies of chromosome 21 rather than two and this additional genetic material affects the balance of the body and results in characteristic physical and intellectual features. Many people have alleles of genes which can make them much more susceptible to certain diseases. The disease may only develop if the person become in contact with something in the environment such as a chemical. An example of this would be lung cancer as some smokers die from cancer in middle age, while others carry on well into old age without being affected. The expression of genes can also be affected by environmental factors such as diet, disease and temperature during development. Mutagenic agents can cause gene mutations in tissues which then grow abnormally. There much scientific disagreement about a persons intelligence as is it determined by genes or by the environment that they grow up in. Asthma is a condition that tends to run in families that are prone to allergies. Although there are many factors that cause and influence asthma there is no single gene that is involved, although scientists are searching for the gene involved which may lead to a cure. The condition affects the bronchioles that carry air in and out the lungs which become swollen or narrowed and excess mucus is produced. It is a chronic condition and symptoms are wheezing, shortness of breath and a tight feeling in the chest. There are environmental factors which increase the risk of the disease such as being brought up in a house that has a pet, exposure to cigarette smoke in the uterus or in early life, air pollution and being born at the time of year when pollen is at is highest. Coronary heart disease is a condition in which genetics and environmental factors determine which humans get the disease. The disease is caused by a blockage of the coronary arteries which supply blood to the heart. In a healthy heart the walls are smooth and the blood flows easily, but the disease develops when material blocks the walls of the arteries causing narrowing of the vessels and possibly a complete blockage. This can lead to a wide range of cardiac problems including angina. The disease often occurs within the same family which can indicate that there maybe genetic link between people with the condition. It is difficult to establish if there is a direct correlation between family members due to genes or whether it is the environmental factors which they all are exposed to. Some of the main environmental factors that increase the risk of developing the disease are smoking, lack of exercise, obesity, unhealthy diet, mental stress, alcohol and coffee. It has been proved that genetic factors have an influence on cholesterol levels, but overall, it seems that a combination of genetics and the environment would best explain the family link to heart disease.

Thomas Hobbes, John Locke and Samuel Rutherford

In 1642 England was starting to seek for changes in the way their government was set up. John Locke and Samuel Rutherford were the leaders of this change, calling for the removal of an absolute monarch. Their works would be opposed by the ideas of Thomas Hobbes, during this eighteen-year civil war in England. The ideas represented in this period would heavily influence the way England’s government would be set up in the eighteenth century. In 1644 Bishop Ross, also known as John Maxwell, published Sacro-Sancta Regum Majestas. The article’s ideas centered on Calvinist resistance theory and the political theory of Spanish neo-scholastics.In response Samuel Rutherford came out with his publication, Lex Rex, which translates to â€Å"Law is King†. This was the first document proposing rule by law and consisted of 44 questions. In Rutherford’s opinion, power was immediately from God in root. With that being his focus he concluded that not only should the king n ot be above the law but should also be subject to it. Lex Rex is the â€Å"Greatest work on the foundation, nature and constitutional government, the Civil Magistrate, and the separate but mutual relationship of Church and State† (Ford).The contents of Lex Rex develop the idea of a separation of powers between legislative, executive and judicial functions. They are to balance one another in no particular order to combine the best features of monarchic, aristocratic and democratic forms of government. He believes that the real sovereign is the people and that all government officials, including the monarch, should be subject to the rule of law and the rule of men as well. A monarch is contrary to God’s will because it requires subjects to surrender total control to a fallible ruler.The position of an absolute ruler is an intoxicating and corruptive force that would potentially lead to negative outcomes. The implementation of laws and government serving as a check upon t he ruler would be in the best interest of the people (Auchter). In his preferred government the King’s power would be lost when he violates the law because it is a right and even more a duty for the people to resist such an infraction. The ideas contributed in Lex Rex provided a bridge between early natural law philosophers and those who would further develop these ideas. The ublication planted the seeds to the type of government that would be laid not only in England but in America as well. Shortly into his reign as king, Charles II made it illegal to own a copy of the publication and had them all burned. There are only four confirmed copies left today. John Locke was a philosopher and political theorist from England. He is greatly known for his contributions to liberalism and empiricism. His faith relied in that of human reasoning and believed that just societies were those, which infringed minimally on natural rights and freedoms of its subjects.He claimed that a legitimat e government depended on the consent of those being governed. This philosophy was taken greatly into consideration when the founding fathers were drawing up the United States’ Declaration of Independence. Locke was known to preach private property and limited government. Locke’s association with Anthony Cooper (First Earl of Shaftesbury) led him to become successively a government official charged with collecting information about trade and colonies, economic writer, opposition political activist, and and finally a revolutionary whose cause ultimately triumphed in the Glorious Revolution of 1688 (Uzgalis).Locke’s two major contributiong pieces of work are Two Treatises of Government and Essay Concerning Human Understanding. In Two Treatises of Government, Locke claims that the sovereignty resides in the people and he explains that humans naturally lived in a state of absolute freedom and quality with no government of any sorts. The earliest form of humans only h ad to follow the law of Nature. During this time individuals allowed themselves to follow their own rights to life, liberty and property. It was soon realized that the contrary outweighed the productive.From this, a civil society was established based on absolute equality and set up a government to settle disputes that would arise in their type of society. The government’s power, however, was not made to be absolute. The power of the government was meant to be surrendered to the people themselves and its authority was contractual with applied conditions. If these conditions were overstepped or abused society has the right to rid of it and create another. With Essay Concerning Human Understanding, Locke offered the first great defense to empiricism.The publication has to do with determining the limits of human understanding in respect to a wide variety of topics. The main focuses, however, is sensation and reflection. With sensation our senses focus toward the world and subcon sciously receive information. Within reflection the focus is on our mind itself and how it passively receives ideas. This all originates back to our sense of perception. He felt as if our minds were a black tablet, tabula rasa, and that only when we, as infants, start to experience things do our senses to perceive the external world register in our minds.This focus reflected upon the goodness and perfectibility of humanity. His theory had radical implications that, if all humans were capable of reason, education may be able to spread to level of hierarchies of status, race or sex. Much of Locke’s other works had to do with opposition to authority, while his main focus was to use reason to search after truth rather than simply accept the opinion of authority or be subject to suspicion. Thomas Hobbes was the young contemporary of Jean Bodin, though he had contrasting views than him.He was in support of absolute monarchy as he heavily thought that a king was absolutely necessary to protect the subjects of his land. He, like Locke and Rutherford, wrote many great pieces during his life. The two that relate are Elements of Law Natural and Political and Leviathan, his most major piece. Hobbes’ Elements of Law Natural and Political was a direct product of the intellectual and political conflict going on during the seventeenth century.During the time it was written, Parliament was fighting for power against King Charles I. In this writing he claims that society could only function if it is submitted to the governance of an absolute sovereign. His work was accepted with hostility causing him to flee to Paris where he would use this work as the basis to Leviathan. After the execution of Charles I, Hobbes started writing Leviathan. It is composed into four books; â€Å"Of Man†, â€Å"Of Common-wealth†, â€Å"Of a Christian Common-wealth† and â€Å"Of the Kingdome of Darkness†.No differently than Elements of Law Natural and Politi cal, his work was received with hostility as it offended both Loyalists and Parliamentarians. Even the exiled Prince Charles, who Hobbes had tutored, refused to read the document after seeing how the general public reacted to it. The method in Leviathan is modeled after a geometric proof, founded up principles of; each step of argument makes conclusions based upon the previous step. Conclusions derived by Geometry are indisputable because each step itself is indisputable.In Leviathan he wanted to base his philosophy off of irrefutable evidence [, therefore, making it fact] (Sparknotes). Hobbes believed that any form of government capable of protecting its subjects’ lives and property might act as an all-powerful sovereign. The state exists to rule over individuals and is thus licensed to trample over both liberty and property if the government’s survival was at stake. The people must surrender their liberties to a sovereign ruler in exchange for his obligations to keep the peace since man naturally â€Å"behaves like a wolf†.Now, having traded away their liberties, subjects have no right to win them back and the sovereign could rule as he pleased, free to oppress his subjects in any way except to kill them. The sovereign’s main purpose would be to preserve the people of their rights. He felt that if the king could not protect his subjects they were to be free from obedience. While Locke and Rutherford’s ideas are centered toward a limited monarchy contrasts with Hobbes’ beliefs of an absolute monarchy is the way to go, there is one thing they all agree upon.None of them believes that the King should be in one hundred percent control. Rutherford suggests that the executive’s (the king’s) decision have to go through a system of checks and balances with a judicial and legislative branch before it can be made permanent. Locke did not believe in a king at all, but rather than total control of a government. He did, however, agrees that if the government were to overstep its boundaries the people could rid of it in order to create another.While Hobbes’ case is a stretch, due to his strong belief in an absolute sovereign, he believed that if a king could not protect his subjects they were to be free from his obedience. Shortly after these documents were presented King Charles I was beheaded. Cromwell became in control as a monarch until his death when his generals seized power, calling for election of a new parliament. Charles II was soon restored to the throne but did not take on absolute authority. He agreed to follow the Petition of Right, agreeing that Parliament would meet at least once every three years.England had thus emerged from this great civil war as a limited monarch which were the ideas suggested by Locke and Rutherford. The works of these three men had a great effect on England’s government. After King Charles I was executed, Hobbes came out with Leviathan plead ing for an absolute sovereign, which was immediately taken up by Oliver Cromwell. However, it was the words of John Locke and Samuel Rutherford that prevailed in setting up the limited monarchy that came after and still exists in England and also ended up being the bases to the ideas that the United States constitution was based on.

BSBMKG513A Assessment Essay - 1161 Words

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Counseling Intervention Management Plan For The Patient...

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