Wednesday, May 6, 2020
Behavioural Studies Free Essays
Self-Presentation, also known as Impression Management (IM) is primarily a goal-directed conscious or unconscious attempt to influence the perceptions of other people about a person, object or event by regulating and controlling information in social interaction. If a person tries to influence the perception of his image, this activity is called self-presentation. With regard to the self-monitoring, it is the extent to which people monitor and control their expressive behavior and self-presentation. We will write a custom essay sample on Behavioural Studies or any similar topic only for you Order Now High self-monitors exert more expressive control over their social behavior and tend to adapt their appearance and acts to specific circumstances. The situation is different with low self-monitors, who display less motivation towards improving their self-presentation. They act more naturally and are least bothered about their public image. This essay has been designed to establish a relationship between the self-presentation and self-monitoring. In the beginning both the concepts will be explained followed by an analysis of the relationship between them. What is Self-Presentation Self-presentation, also known as impression management is the process by which people attempt to manage or control the perception others form of them. There is often a tendency for people to try to present themselves so as to impress others in a socially desirable way. The theory of impression management states that any individual or organization must establish and maintain impressions that are congruent with the perceptions they want to convey to their publics. The impression management theory describes the methods through which people take actions to a create a public perception, in order to achieve their personal or organizational goals (ââ¬Å"Impression Managementâ⬠2006, pars. 1-5). As with other cognitive processes, impression management has many possible conceptual dimensions (Dunegan 1993, pp. 491) and has been researched in relation to aggression, attitude change, attributions, social facilitation, and leadership. It is basically an intentional or un-intentional goal-directed approach to influence the perceptions of other people about a person, object or event by regulating and controlling information in social interaction. In short, we can say that if a person tries to influence the perception of his/her image, the activity is called self-presentation. What is Self-Monitoring In any scenario, people are generally motivated to behave appropriately and in a manner which is appealing to others. The theory of self-monitoring explains the extent to which people value, create, cultivate, and project social images and public appearance (Gangestad Snyder, 2000, p. 531). The level of control which the people apply is different from a person to person. Some people may not care much about the perception others make of them. They say what they believe. These people are included in the category of low self-monitors. On the other hand, high self-monitors, are likely to avoid talking about themselves as they really are, and use pretense and deception in their efforts to play to the crowd (Buss and Brigg 1984, p. 1310). In general, self-monitoring involves three major tendencies: â⬠¢ The willingness to be the center of attention ââ¬â a tendency to behave in outgoing, extraverted ways. â⬠¢ Sensitivity to the reactions of others. â⬠¢ Ability and willingness to adjust behavior to induce positive reactions in others. High and Low Self-Monitors As states earlier, some people are more sensitive to the image they form when in public. Such people are very self-conscious and like to ââ¬Ëlook goodââ¬â¢ and will hence usually adapt well to differing social situations. These people are called the high self-monitors. The high self-monitors would observe people and note their response to different behaviors of other people. On the other hand, there are people are less concerned about what others think about them. They are termed as low self-monitors. Low self-monitors do not make any effort to exercise control over their expressive behavior. High and low self-monitors possess different qualities. They regulate their behaviour in public in different ways. High self-monitors would generally adjust their social behaviours according to situational cues, whereas low self-monitors regulate their social behaviours according to their dispositions. Low self-monitors usually conform their behavior to their internal beliefs. Another major difference between high and low self-monitors is that the low self-monitors would choose friends based upon their liking whereas, the selection criteria for friends is different in high self-monitors. The high self-monitors choose friends as activity partners for their leisure time based on the friendsââ¬â¢ skill in the specific activity. Moreover, high self-monitors will be more concerned about the partnerââ¬â¢s physical appearance than the personality (Snyder, Berscheid, Glick, 1985). Relationship Between Self-Presentation and Self-Monitoring Self-presentation and self-monitoring are inter-related terms. In simple words, self-presentation is the way one presents himself/herself and self-monitoring is the level of control exerted during the process of self-presentation. Accordingly, high and low self-monitors will have different degree of self-presentation. High self-monitors are more adoptable and would adjust their behaviors across situations because they are more sensitive to the expectation of others. Their style of self-presentation would generally be more appropriate and suiting to every scenario they confront (Snyder, 1974, p. 527). They would always ask themselves as to what does this situation want them to be (Snyder, 1987, p. 32). They will constantly observe before exposing themselves. They will not express their emotions unless they are sure of their appropriateness. The high self-monitors will exhibit relatively low behavioral consistency across situations. They would tend to make a different image or face which is superficial, but will be corresponding to the situation. On the other hand, low self-monitors would present themselves as natural as they are and will seldom make any conscious effort to conceal their inner sentiments. Their behavior will usually be consistent across situations. The low self-monitorsââ¬â¢ expressive self-presentation will be articulated by their inner attitudes, dispositions, and values. Low self-monitors are not concerned about the ââ¬Å"appropriateness of their self-presentationâ⬠(Snyder, 1974. p. 527). Another important aspect of the relationship between self-presentation and low self-monitors is that they are often described as individuals who lack self-presentation concerns. They will not make much effort in adjusting their behaviour in accordance with situational demands. Their self-presentation will be natural and least concerned with the expectations of others. On the contrary, high self-monitors would make all concerted efforts in controlling their behavioural patterns which are conflicting with the situations. They are the ones whose self-presenting will be much applauded and their personalities will usually be graded as sober and acceptable. In one experiment, Snyder (1974) found that professional stage actors scored higher than non-actors on measures of self-monitoring. Professional actors genuinely possess acting ability and control over their emotions, expression, and behaviour. They were able to adapt to changing situations adequately. Their self-presentation was therefore much more stable and suiting the environment. In another experiment on ordinary college students, high self-monitors were found to be better than the low self-monitors in expressing different emotions like anger, happiness, sadness, surprise, disgust, fear, and guilt. High self-monitors can even adapt to sudden changing moods. When high self-monitors were asked to act like an extraverted, friendly, and outgoing person and then suddenly to act like an introverted, withdrawn, and reserved person, high self-monitors adopted each role better than low self-monitors did (Lippa, 1976). Conclusion Self-presentation is how we tend to present ourselves. It is how we want people to look at us. The art of exercising control over our emotions, behaviour, and moods is basically the self-monitoring. Self-monitoring refers to a personââ¬â¢s ability to adjust his or her behaviour to external situational factors. Individuals high in self-monitoring show considerable adaptability in their behaviour. They can behave differently in varying situations. They are found to be much capable of presenting striking contradictions between the public persona and the private self. On the other hand, it becomes difficult for low self-monitors to disguise themselves this way (ââ¬Å"Self-Monitoring Scale,â⬠2006). In nut shell, high self-monitors are more concerned about self-presentation than the low self-monitors. Bibliography Buss, A. H. , Briggs, S. R. (1984). Drama and the self in social interaction. Journal of Personality and Social Psychology, 47, 1310-1324. Dunegan, K. J. (1993, June). Framing Cognitive Modes, and Image Theory. Journal of Applied Psychology, pp. 491. Gangestad, S. W. , M. Snyder (2000). Self-monitoring: Appraisal and Reappraisal. Psychological Bulletin, 126, 530-555. ââ¬Å"Impression Management,â⬠(2006). Wikipedia, viewed 30 August 2006, http://www. answers. com/self-presentation Lippa, R. (1976). Expressive control, expressive consistency, and the correspondence between expressive behavior and personality. Journal of Personality, 44, 541-559. ââ¬Å"Self-Monitoring Scale. â⬠(2006). Viewed 30 August 2006, http://pubpages. unh. edu/~ckb/SELFMON2. html Snyder, M. (1974). Self-monitoring of expressive behavior. Journal of Personality and Social Psychology, 30, 434-461. Snyder, M. (1987). Public appearances/private realities: The psychology of self-monitoring. New York, Freeman. Snyder, M. , Berscheid, E. , Glick, P. (1985). Focusing on the exterior and the interior: Two investigations of the initiation of personal relationships. Journal of Personality and Social Psychology, 48 , 1427-1439. How to cite Behavioural Studies, Papers
Saturday, May 2, 2020
Dead Manââ¬â¢s Bones Dead Manââ¬â¢s Bones free essay sample
Mention Hollywood heartthrob Ryan Gosling, and the grungy, bearded guy in ââ¬Å"The Notebookâ⬠comes to mind. Most dont picture him at an indie rock music festival with his best friend, Zach Shields, and a bunch of kids dressed in Halloween costumes, and definitely not playing in an indie rock band. Zach and Ryan met in 2005 when they were dating sisters. They discovered a mutual obsession with ghosts, zombies, and monsters, and decided to write love songs about them. Their first album, self-titled ââ¬Å"Dead Mans Bones,â⬠was released in 2009, and they collaborated with the Silverlake Conservatory of Music Childrens Choir. They chose to play all the instruments on the album, including those they had never touched, and never did more than three takes, believing that imperfections highlighted the strengths of the music. My initial thoughts were What the â⬠¦? and This is the creepiest thing Ive ever heard. But after I got over these feelings, this album started to grow on me. We will write a custom essay sample on Dead Manââ¬â¢s Bones: Dead Manââ¬â¢s Bones or any similar topic specifically for you Do Not WasteYour Time HIRE WRITER Only 13.90 / page The songs provided a feeling of comfort through the trance-like voices of the men and the choir of children. Each song has its own feel. Some are catchy and humorous while others are resonant and serious. Ill start with the first creepy song, ââ¬Å"Dead Hearts.â⬠It begins eerily, with something that sounds like a heartbeat and rhythmic guitar. At the climax, glass shatters in time with the music, then it slows and you hear footsteps and scraping noises. I would probably get scared if I listened to this alone. The title track is my favorite because of its upbeat rhythm. The beginning is similar to jazz music. When the chorus comes in, a tambourine and piano join as well. The lyrics explain that no matter where you are, chances are youre standing on a dead mans bones. ââ¬Å"Pa Pa Powerâ⬠is one of the better-known tracks. It begins with a techno beat and tambourine, drums, and synthesizer. Then a man and the choir of children alternate singing ââ¬Å"Pa pa power pa pa power.â⬠Lyrics like ââ¬Å"Burn the streets, burn the carsâ⬠and ââ¬Å"Broken glass, broken heartsâ⬠seem to be about the destruction power can cause. ââ¬Å"Dead Mans Bonesâ⬠was definitely not what I expected, but turned out to be a lot less creepy than I first thought. This album is worth the listeners time, and Id recommend it to any fan of alternative or indie music. Its a combination of creepy, upbeat songs and background music from a zombie movie, and its perfect for any fan with an open mind.
Tuesday, March 24, 2020
Friday, March 6, 2020
Pharmacogenomics essays
Pharmacogenomics essays Pharmacogenomics in the Future of Health Care Practice Abstract: Pharmacogenomics is an up and coming technology that encompasses the areas of health care, science, drug therapy and genetics. Pharmacogenomics research examines gene expression, and how drugs can be best suited to work with an individuals DNA sequence. Some drug therapies have already been developed by means of this research, but the effect of the use of pharmacogenomics in health care is slow to be seen. All health care professionals will be affected when the advancements of pharmacogenomics are in widespread use, and need to be prepared for its introduction. There are distinct sides to the controversial issue of pharmacogenomics in our society, and all individuals involved should be aware of the aspects of this new technology. Pharmacogenomics in the Future of Health Care The study of genetics has brought about a new way of thinking to the world of science. But the field of science is not the only area affected by the advancements in genetics; it affects every aspect of humanity. The use of genetics lies in a gray area, where right and wrong is not easily decided. Separate communities of thinkers debate whether the use of genetics in science and technology are beneficial or harmful to society. The introduction of genetics into the health care field forces society to decide what is ethical in the use of these findings. The field of pharmacology is no exception to this. The fusion of pharmacology and genomics, pharmacogenomics (Human Genome Program, n.d.), pioneers scientific advancements in drug therapy and also presents society with considerations to make regarding the ethicality of their use. Pharmacogenomics studies behavioral aspects of genetic information. According to the International Society of Pharmacogenomics (ISP) website, pharmacogenomics involves a larger area of genetics, searching for genetic variations, including DNA polymorphisms or gene...
Wednesday, February 19, 2020
ECONOMICS OF THE UAE Case Study Example | Topics and Well Written Essays - 4250 words
ECONOMICS OF THE UAE - Case Study Example Fossil fuels (oil, coal and gas) will remain the most supplied form of energy used throughout the globe. Hence this sector is an important source of economic growth for the gulf region. The structure of labour force also plays an important role in the economic development of any country. The structure of the UAE labour force has been studied in this paper and the pattern of expenditure of their income is investigated to assess the effect of labour force on the GCC economy. This paper analyses six articles on this issue and evaluates the findings to assess the process of economic growth of the GCC region. 1. The development and principal features of an oil economy The article by Issac John, titled, ââ¬Å"Dubai government owned e-commerce website to expand in Gulfâ⬠published in Khaleej Times on 20 February 2013, explains this phenomenon. In 2011 GCC had a nominal GDP of US$1.4trilion (QNB, 2013). The economy of the GCC region is based on the oil reserves of the region and till p resent times it is known to have the largest reserves of crude oil in the whole world (approximately 486.8 billion barrels) (Gulfbase, 2013). While the OPEC countries together accounts for 70% of the total known crude oil reserves of the world, the GCC alone represent 35.7% of the total reserve. This region holds the topmost rank in producing and exporting petroleum in the world thereby generally assuming a primary role in the global economy, particularly in the OPEC. The GCC economy has increased in size almost three times in the period between 2002 and 2008. This shows that the seven countries in the GCC region (Ajman, Abu Dhabi, Dubai, Al Fujayrah, Sharjah, Ras al Khaymah and Umm al Qaywayn) have reflected spectacular economic growth till mid 2008 (EIA, 2013). GCC countries account for 52% of the total OPEC oil reserves and 49% of the total OPEC crude oil production. The region is continuing its economic reform program, focusing on attracting domestic, regional and foreign privat e sector investment into oil & gas, power generation, telecommunications, and real-estate sectors. However, the slouch in the financial condition around the globe has brought about a slowdown in the economic status of the world which has slowed down the rate of investment in different development projects in this region. However, with the recent efforts made by all countries towards economic recovery is creating a quick rebound in the economic activities in the region (Gulfbase, 2013). According to analysts the combination of sluggish rise in global oil demand and rising market penetration by the non-OPEC countries might have a dampening effect on oil prices thereby limiting profits for the GCC countries in the near future. According to data published by the International Energy Agency (IEA) in June 2010 the quota compliance of UAE with the member countries of OPEC was re-adjusted (Kumar, 2010). Average export price of oil is estimated to rise marginally therefore declining in real terms. Export volumes would expand only by 1% annually till end of the decade. In the progression, contribution from the GCC countries would sum up to half of the total OPEC output and the ââ¬Å"OPEC output as a share of global demand for oil is expected to decline from about 40 percent in 1995 to 37 percent by the end of the decadeââ¬
Tuesday, February 4, 2020
Week 4 Discussion Coursework Example | Topics and Well Written Essays - 1000 words
Week 4 Discussion - Coursework Example Clear accountability and responsibility of members of the team; all team members should have an apparent understanding of their roles in the project (Kerzner, 2013). There should also be frequent monitoring as well as measurement of milestones, time, equipment and people schedules. Correctly done schedule control as well gives the primary hint that initial planning might not be going as per the schedule. The initial step is to identify as well as engage with the main stakeholders. Have talks, an official stakeholder consultation or a problem definition seminar, but it is important to begin the hunt for extra data on the business need. Secondly, after gaining a grasp on what the business need entails, begin to translate and construe that need into a structured problem or explanation of the scope. More importantly at this phase is to write down the business need into an understandable language (Kerzner, 2013). Thirdly, after clarifying and agreeing on what the existing business need is, the process of brainstorming ideas of how the need can be addressed begins. Another very crucial part of this task on any project is to deal with the change of business needs right from the beginning of any business project. Building firm relationship with stakeholders is the final phase. Lack of good relationships amid the business stakeholders and the project team stakeholders, as well as the supporting technical members, can make the project fail. b. Obstacles and how to overcome Communication and Language: The prioritization and precise nature of needs usually differ with a projects stakeholders. Diverse interpretations are usually discovered very late in the development cycle, when alterations entail a lot of effort and cost. Creating a prototype all through requirements gathering can assist to settle any disparity in understanding. Overbooked
Sunday, January 26, 2020
The Amelogenesis Imperfecta Health And Social Care Essay
The Amelogenesis Imperfecta Health And Social Care Essay Your sister has noticed that the teeth of her young son are discoloured and has taken him to the dentist. After a series of tests, the condition of X-linked amelogenesis imperfecta is diagnosed. She asks you, a dental student, to explain the reason for this condition. Particularly, she would like to understand why, in this condition, the enamel is malformed, how the enamel differs from normal and the reason her son, but not her, or her husband is affected. Learning outcomes 1. To explain and understand normal enamel formation. 2. To identify the different types of AI and their presentation. 3. To describe the genetic code and various types of genetic mutations that can be found. 4. To understand and describe the phrases; autosomal dominant inheritance, autosomal recessive inheritance and X-linked recessive inheritance. 5. To identify the genes associated with AI. Introduction Amelogenesis imperfecta is a hereditary disorder that affects tooth development and results in the abnormal formation of tooth enamel. In the above scenario our nephew has been diagnosed with X-linked amelogenesis imperfecta. Below I will explore the proposed learning outcomes and take a closer look at the inherited disease. Explain and understand normal enamel formation. The teeth are composed of three mineralised tissues; enamel, dentine and cementum, which surround the inner unmineralised dental pulp. [1] The dental pulp is the only living part of the tooth and is made up of connective tissue, odontoblasts and nerves. It supplies the outer mineralised layers with a supply of organic compounds and the odontoblasts help with the creation and repair old dentin. The nerves inside the pulp are also very sensitive and alert an individual of any injury or trauma that may occur. If the pulp is exposed to bacteria, infections are likely. [2] [3]http://www.dentalhealth.ie/common/images/legacy/dhp/pic_stuctureoftooth.gif Cementum can be found below the gum line covering the dentin and root of the tooth. It helps to anchor the tooth and protect the root. It is continuously formed through life by cementoblasts in the dental pulp as it prone to destruction. [4] [6] FIG.1 Basic tooth structureDentine is made up of tiny tubules and is the most abundant of the three mineralised tissues. It acts as support beneath the enamel covering and has a protective function to the dental pulp. Dental pulp, cementum and dentine are all derived from the mesencymal origin. [5] [7] FIG.2 Enamel structure The head is orientated superficially and the tail towards the tooth root http://www.kck.usm.my/ppsg/histology/e_2_0.jpg Lastly enamel which is derived from the ectoderm is made up of primarily crystalline calcium phosphate and is the outermost component of the tooth and covers the dental crown. The calcium hydroxyapatite enamel crystals are arranged as keyhole shaped rods that span the full thickness of the enamel layer (see fig.2). The enamel crystals have a parallel orientation and any gaps between the rods are filled with further crystals. Enamel is the hardest most mineralised structure found in the human body. [4] [8] Enamel is formed by the process of amelogenesis after dentine is formed in the process of dentinogenesis. There are four main stages to amelogenesis; Presecretory, secretory, maturation and post maturation. [1] [9] FIG.3 Basic tooth structureThe presecretory stage starts with proliferation of the oral epithelium to form the dental lamina, further proliferation with occur at the site of each future tooth and there will be an outgrowth of cells; this is called the bud stage. This bud of cells then enlarges and develops a cavity in the cap stage and further growth and development will lead to the development of four recognisable layers in the bell stage. Finally the internal enamel epithelium will cease to divide and the dental lamina will degenerate leaving being the early developing tooth. [1] In the secretory stage a partially mineralised enamel matrix is deposited directly on the surface of the previously formed dentin by adjacent secretory stage ameloblasts. [1] The organic partially mineralised matrix is produced as a result of the combined actions of the rough endoplasmic reticulum, Golgi apparatus and secretory granules. The ameloblasts will move away when the first layer of enamel is deposited on the dentine allowing the Tomess process to develop at the secretory pole of each ameloblasts. The Tomess process is responsible for the formation of enamel rods as it lays down the crystals of the enamel matrix. The ameloblasts lie adjacent to the stratum intermedium which contains alkaline phosphotase which is responsible for calcification of the tooth enamel. These ameloblasts continue to produce the enamel matrix until full thickness is reached. [4] Maturation of the partially mineralised enamel matrix involves the removal of organic material and the continuous influx of calcium and phosphate. [4] Maturation stage ameloblasts differentiate from secretory stage ameloblasts and they now contain high numbers of mitochondria to carry out their function as a transport epithelium moving substances into and out of the maturing enamel. The maturing enamel matrix contains four main types of protein; amelogenins, ameloblastins, enamelins and tuftelins. The amelogenins are important in maintaining the spaces between the enamel rods and the ameloblasts control the elongation of the enamel crystals, both of these proteins are removed from the mature enamel. Enamelins undergo cleavage as the enamel matures and will only be found on the surface of the crystals.Tuftelins are present in mature enamel and responsible for hypomineralisation. [1] [4] In the final stage of post maturation the enamel organ will degenerate and the tooth will erupt and become exposed to the oral environment. [1][4] Identify the different types of AI and their presentation. Amelogenesis imperfecta is a group of hereditary disease that affects both the primary and secondary dentition. It results in the enamel becoming hypoplastic, hypomineralised, discoloured and sensitive. [10] There are four main types of amelogenesis imperfecta (AI) that have been identified because of their differences in enamel defects that present in patients. In Hypoplastic AI (type1) the enamel is of normal colour but much thinner as the enamel has not formed to normal thickness, the enamel can also have pits and grooves due to the disturbance in differentiation of ameloblastins. In hypomaturation(type 2) AI the teeth are of normal shape but have a mottled, dark, opaque appearance and chip away easily from the underlying dentine because of a change to the rod structure. Hypocalcified AI (type 3) has poor enamel mineralisation and a defect in its matrix structure making it very soft and susceptible to abrasion; its appearance is dark and chips easily. [1] [11] (see fig.4).http://www.ojrd.com/content/figures/1750-1172-2-17-1-l.jpg Finally hypoplasia (type 4) AI is a combination of hypoplastic and hypomaturation AI. It is characterised by a reduction in enamel thickness and the enamel has a yellow brown mottled appearance. [13] [12] FIG.4 Phenotypic descriptions of amelogenesis imperfecta. hypoplastic (a, b, c, d), dysmineralised (e, f), hypocalcified (g, h) hypomineralised form (e and f) The hypomaturation forms (g, h) Describe the genetic code and various types of genetic mutations that can be found. [15] FIG.5 Genetic information is encoded in the base sequence of DNA molecules as a series of genes. The genetic code describes how base sequences are interpreted into amino acid sequences during protein synthesis via transcription and translation. [14] http://sjesci.wikispaces.com/file/view/DNA-to-codon.gif/155543209/DNA-to-codon.gif The DNA sequence of a gene is divided into a set of three bases called a codon (see fig.5). Each codon gives rise to a particular amino acid or a stop signal. The genetic code is referred to as degenerate because each amino acid is encoded by more than one codon; there are 64 possible combinations of codons from the 4 nucleotide bases (Adenine, guanine, cytosine and uracil or thymine) but only 20 different amino acids. (See fig.6)http://2.bp.blogspot.com/-i-CYqAFf61o/TZXYoBQmXrI/AAAAAAAAB5g/5PmMdfOP1PQ/s1600/genetic-code-1.jpg This degeneracy minimises the possible effects of mutations as alterations to the base sequence are less likely to change the amino acid so changes to the protein structure and function are avoided, this is known as a silent mutation. Protein synthesis always starts with the initiation codon AUG which encodes the amino acid methionine but this is later removed. Protein synthesis is terminated by the any of the three stop codons; UAG, UGA and UAA. [14][16] [17] FIG.6 DNA mutations can however cause genetic disorders and cancers. A gene mutation occurs when there is a change in the DNA sequence that makes up a gene; these can be classified as either point mutation which involves the alteration of a single base or gross mutations which often involve the alteration of longer DNA sequences. There are several types of point mutations. Missense mutations occur when a single base is altered or substituted and a different amino acid is produced. Nonsense mutations result in translation ending prematurely because a nucleotide base has been substituted for another resulting in a stop codon and frameshift mutations result after a single base is either deleted or inserted which causes the ribosome to read a new set of codons which will alter the complete amino acid chain produced.(see fig,7) All these changes to the DNA sequence will alter the amino acid chain and subsequently have a serious effect on the protein produced and effect how well it will work or how it will carry out a specific task. Gross mutations have the same implications and also experience insertion and deletion but this is of several bases at a time. [14][18] Figure 4: If the number of bases removed or inserted from a segment of DNA is not a multiple of three (a), a different sequence with a different set of reading frames is transcribed to mRNA (b). [19] FIG.7 Frameshift mutations If the number of bases removed or inserted from a segment of DNA is not a multiple of three (a), a different sequence with a different set of reading frames is transcribed to mRNA (b). Identify the genes associated with AI. Faulty alleles of the genes AMELX, MMP20, KLK-4 and ENAM cause the disease amelogenesis imperfecta. These genes usually provide the genetic instructions for the production of proteins that are essential for the healthy formation of enamel. The mutations of these genes have caused a change in the nucleotide base sequence and as a result the protein structure is altered making them work ineffectively or not at all, in turn this has a variety of effects on the enamel formation. [1] The AMELX gene is located on both of the sex chromosomes, X and Y and provides instructions for the protein amelogenin which is essential for normal tooth development as is separates and supports the hydroxyapatiteà crystals as they mature. Mutations in AMELX have been found to cause X-linked amelogenesis imperfecta because of the change in structure to amelogenin. [20] Theà ENAMà gene provides instructions for the production of the protein enamelin and mutations of this gene can be found in both patients with autosomal dominant AI and autosomal recessive AI.[21] (see below) MMP20à is responsible for the protein enamelysin mutations in this gene are inherited via the autosomal recessive pathway and KLK-4 mutations are responsible for hypomaturation AI. [22][23] Understand and describe the phrases; autosomal dominant inheritance, autosomal recessive inheritance and X-linked recessive inheritance. Humans have 22 pairs of autosomal homologous pairs of chromosomes and one pair of sex chromosomes; X and Y. Females have two X chromosomes where as males have one X and one Y chromosome. [18] There are three patterns of single gene disorders that allow faulty alleles (version) to be passed between generations. These include autosomal dominant, autosomal recessive and X-linked. [14]Autosomal dominant genes [24] FIG.8 Autosomal inheritance In autosomal dominant disorders only one faulty allele needs to be passed from the parents to the offspring for them to be affected by the disease. The affected child will also have one normal allele of the gene making them heterozygous. The affected childrens offspring will also have a 50% chance of inheriting the affected allele. (see fig.8)[14] In autosomal recessive disorders however the likeliness of being affected by the disease is only 25% and both parents must possess at least one of the mutated alleles. (See fig.9)This is because in recessive orders both inherited alleles must be mutants to show an effect in the offspring. There still is a 50% chance of being a carrier (if you have one healthy and one effected allele). [14]http://retinaaustraliansw.com.au/images/AutosomalRecessiveInheritance.gif [26] FIG.9 [26] FIG.10 X-linked inheritance Illustration showing X-linked recessive inheritance pattern with carrier mother In X-linked disorders the faulty allele is present on the X chromosome. As males only have one X chromosome they only need one copy of the allele to have the disease, they are hemizygous. Females however must have two copies of the faulty allele (homozygous) to be affected and so are in most case carriers. A female carrier has a 50% chance of their daughters being carriers and a 50% chance of their sons being affected by the disease. (See fig.10)[18] Amelogenesis imperfecta has different modes of inheritance. Hypoplasticà (Type I) and Hypomaturation (Type II) AI can be inherited by all three modes of the above inheritance patterns. Hypocalcified (Type III) AI is not inherited via the X-linked pathway and Hypoplasia (Type IV) AI is only passed between generations via the autosomal dominant pathway and only one faulty allele has to be passed to the offspring for them to be affected by amelogenesis imperfecta. [13] Conclusion Our nephew has been diagnosed with X-linked amelogenesis imperfecta. Taking in account the above information we can now conclude the reason why he but not his parents are affected by the disease is because our sister must be a carrier of the faulty allele of the gene AMELX. Males are hemizygous so the possibility of the father possesing the faulty allele has been ruled out or he would too be affected by the disease. One can also assume that he is suffering from either hypoplastic AI or hypomaturation AI as the other two types are not inherited via the X-linked pathway. The treatment of amelogenesis imperfecta will depend on the severity of the condition but it is usually to treat the aesthetic symptoms so crowns may be given to hide the displeasing characteristics of the malformed enamel.
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