...DNA Mutations- The Consequences Introduction Deoxyribonucleic acid, which is more commonly known as DNA, is the hereditary material in almost all organisms. Its purpose is to store and retain the genetic information needed to be able to construct as well as maintain an organism such as a human being. Due to this people like to say that it is seen as the blueprint of life, as it contains the instructions for everything a part of you, such as eye color, height, hair type and several more. It truly controls the development of a living organism making each and every one unique in their own manner; it is also able to pass down information as well. Deoxyribonucleic acid is typically found in the cell nucleus, and due to this it is given the name nuclear DNA, it can also be located in the mitochondria and be called mitochondrial DNA. The main components of DNA are: a phosphate group, 5 carbon sugar and a nitrogenous base. The four nitrogenous bases are adenine, guanine, thymine, as well as cytosine. The order and sequences of these bases determine information to help build as well as maintain an organism or to allow for different information to be transmitted from one and another. Each of the bases is attached to sugar and phosphate molecules which are held together by phosphodiesterase bonds. Together they form what is called a nucleotide. Nucleotides are arranged in two long strands, these strands form something known as a double helix. By doing so it allows for more DNA...
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...Genetic Mutation and Melanoma Malignant melanoma is a potentially serious type of skin cancer due to uncontrolled growth of pigment cells, called melanocytes. A number of genes play a role in melanoma, including inherited genes. Genes produce proteins that perform specific tasks and act as messengers for the cell. It is essential that each gene has the correct instructions or “code” for making its protein so that the protein can perform the proper function for the cell. Many cancers begin when one or more genes in a cell are mutated, creating an abnormal protein. An increased risk of melanoma occurs when specific gene mutations are passed within a family from generation to generation. Inherited melanoma is sometimes called familial melanoma. A person may be born with a genetic mutation in all their cells (germline mutation). Every cell usually has two copies of each gene: one inherited from the mother, and one inherited from the father. Hereditary melanoma follows an autosomal dominant inheritance pattern, in which a mutation needs to happen in only one copy of the gene. This means that a parent with a gene mutation may pass on a copy of the normal gene or a copy of the gene with a mutation. Therefore, a child who has a parent with a mutation has a 50% chance of inheriting that mutation. If a person has a first-degree relative with melanoma, his or her risk of developing melanoma is two to three times greater than the average risk. Mutations in the following...
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...Surname Lecturer Institution The Price of Silent Mutations Summary of the Article “Price of Silent Mutations” By Chamary, J.V. and Hurst Laurence Silent mutation can be described as an alteration of single nucleotide DNA which lies in the protein-coding region of a gene and which has no effect on the amino acid sequences coded for by the gene. For a very long time scientists believed that these types of mutations could not have an impact on a person since they do not affect the actual protein coded for by the respective genes. It is in line with this concept, that the mutations became regarded as silent. However, recent research has revealed that the mutations long thought as “silent” are not as silent as they seemed, but can actually cause harmful diseases. To understand the mechanism of silent mutations, it is important to grasp how a protein is coded for by a gene. The language used by RNA to code for proteins entails using nucleotide bases; adenine, guanine and uracil (cytosine in DNA) which are combined in triplicate codes, each code coding for a particular amino acid. On the other hand, a protein is specified by a combination of specific amino acids (Chamary, Hurst, Laurence, 47). Single-base substitutions, commonly referred to as point mutation may alter the gene codon, resulting in translation errors. If a single purine (A or G) or pyrimidine (G or C) is interchanged with another, the substitution is regarded as a transition. However, if a pyrimidine is interchanged...
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...Beneficial and Harmful Mutations among Humans Mutation A gene mutation is an irreversible change in the sequence of DNA which a gene is made up of. After mutation, the sequence becomes different from that found in most human beings. Mutations are a result of damage to DNA during replication or to the genomes of RNA usually caused by chemical mutagens or radiation. Mutations in genes can either have no effect, alter the product of a gene, or prevent the gene from functioning properly or completely. Mutations can also occur in non-genic regions. Mutations in sex cells can be transmitted to the next generation; mutations in other cells cannot be transmitted. The effects of mutation may be beneficial, harmful or neutral. The DNA fails to copy correctly thus leading to gene mutation. Harmful Mutations Harmful mutations result in severe consequences on the health of the person. Some examples of harmful mutations are as follows: 1. Sickle Cell Anemia It is an example of natural harmful mutation existing in human beings. It is a...
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...A mutation is a change in DNA, which is the instructions for how to create the organism, and the mutation is when the DNA differs from what it was supposed to be when it replicated itself. The letters A, T, G, and C represent the bases adenine, thymine, guanine, and cytosine; in addition, the order the bases are in make up the instructions of the genetic code. The instructions of DNA are matched with amino acids the cells use to create proteins. The molecular basis of DNA mutations is a change in the DNA’s bases, happening either spontaneously or being caused by mutagens, which can lead to effects that help, harm, or have no effect the organism. DNA mutations happen either naturally or are caused by mutagens, which are something in the environment...
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...Mutation: in this paper, we adopt the following mutation mode: randomly select a gene of a chromosome, and change its value to an integer in the set of {1, 2, ..., L}, where L is the largest class number in that chromosome. It is easy to operate and contributes a lot to increase the diversity of population. Besides, invalid mutation will be effectively avoided through limiting the scope of mutation. For each of the chromosome to be mutated, 20% genes will be selected to operate mutation. For example, if the chromosome rm=[1 2 1 1 3] is selected, then L should equal to 3. Select 20% genes (namely one gene) randomly, assuming it is the fourth vertex, then its corresponding value of gene can be turned into any one among 1, 2 and 3. The whole process is shown in TABLE 5. TABLE5: Mutation operation v rm...
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...What is genetic variation? Genetic variation is a term used to describe the variation in the DNA sequence in each of our genomes. Genetic variation is what makes us all unique, whether in terms of hair colour, skin colour or even the shape of our faces. * Individuals of a species have similar characteristics but they are rarely identical, the difference between them is called variation. * Genetic variation is a result of subtle differences in our DNA?. * Single nucleotide polymorphisms? (SNPs, pronounced ‘snips’) are the most common type of genetic variation amongst people. * Each single nucleotide polymorphism represents a difference in a single DNA base?, A, C, G or T, in a person’s DNA. On average they occur once in every 300 bases and are often found in the DNA between genes?. * Genetic variation results in different forms, or alleles?, of genes. For example, if we look at eye colour, people with blue eyes have one allele of the gene for eye colour, whereas people with brown eyes will have a different allele of the gene. * Eye colour, skin tone and face shape are all determined by our genes so any variation that occurs will be due to the genesinherited? from our parents. * In contrast, although weight is partly influenced by ourgenetics?, it is strongly influenced by our environment. For example, how much we eat and how often we exercise. * Genetic variation can also explain some differences in disease susceptibility and how people react...
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...Chemistry 129A Syllabus, Spring 2016 Instructor and Contact Information: Sammy Tamras: Lab Sections: MW 9:00-11:50; and 1:00-3:50; and TTh 1:00-3:50 Office: McLane 244 Office Hours: MW 4:00-5:00; and TTh 11:00-12:00, and by appointment E-Mail: stamras@csufresno.edu Lab Coordinator: Dr. Joseph Gandler; email: josephg@csufresno.edu; office: S 362; office hours: M-F 10:00-10:50. CHEM 129A Lab Sections: |MW |09:00-11:50 |S 370 |35547 |S. Tamras | |MW |09:00-11:50 |S 372 |35446 |B. Vue | |MW |01:00-3:50 |S 370 |35141 |S. Tamras | |MW |02:00-4:50 |S 372 |35214 |K. Munshi | |TTh |08:00-10:50 |S 372 |34797 |S. Maitra | |TTh |09:00-11:50 |S 370 |34796 |H. Muchalski | |TTh |01:00-3:50 |S 370 |34798 |S. Tamras ...
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...Rationale Does mutations always lead to diseases? Mutation can either lead to diseases or be beneficial to an organism. The ability of DNA to mutate enables life to overcome changes in the environment. Mutation are a natural occurrence in all organism. It could occur spontaneously through errors during DNA replication. It could also occur when the organism is exposed to mutagens such as chemicals or radiation resulting in insertion, deletion or replacing DNA base. Not all mutations will affect the phenotype of the organism and cause disease. Some mutations have no noticeable effect because it occurs in a part of the protein that is not important to its function. Some mutations have been proven to have a positive effect on the human body, this leads to a new version of protein that can help an individual adapt better to the change in environment. To answer the question : Do mutations always cause diseases in human and does haemoglobin mutation have beneficial traits? Sickle cell disease will be used as a case study to answer the question. . A summary of this refinement and the specific research question is Does haemoglobin mutation confer greater beneficial traits to an organism. Background...
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...Netherland. De Vries is wanted for his 1900 he rediscovered Mendel’s law of heredity, his theory of biological mutation and introduction of the term mutation. De Vries spent 13 years of observing his Oenothera lamarckiana (evening primrose) to prove his theory that species came from other species, through huge changes of characteristic traits (the” theory of mutation”). De Vries noticed that once in a while an offspring would have a great difference in characteristic traits from the original plant. In 1901 he published his findings on mutation in his book the Mutation Theory. His theory of mutation was also widely accepted by people because his work was the first experimental study of evolution in a large scale. Hugo de Vries was born on February 16, 1848 in Haalem, Netherland. De Vries is wanted for his 1900 he rediscovered Mendel’s law of heredity, his theory of biological mutation and introduction of the term mutation. De Vries spent 13 years of observing his Oenothera lamarckiana (evening primrose) to prove his theory that species came from other species, through huge changes of characteristic traits (the” theory of mutation”). De Vries noticed that once in a while an offspring would have a great difference in characteristic traits from the original plant. In 1901 he published his findings on mutation in his book the Mutation Theory. His theory of mutation was also widely accepted by people because his work was the first experimental study of evolution in a large scale...
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...dominant trait, what percentage of these offspring should be expected to express the mutation (have curly wings)? B. 50% of the offspring are expected to have the curly wing mutation. 2. What percentage will have the normal (wildtype) wings? C. 50% of the offspring will have normal wildtype wings. 3. Organisms are called carriers of a gene if they do not express it themselves but they can pass it on to their offspring. Is it possible for a fly to be a carrier of the Curly gene? B. No • Ebony x Wildtype “+” the wildtype (normal gene) and “e” the ebony (mutant gene) 1. Given that ebony is a recessive trait, what percentage of these...
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...of a predictive genetic test that could identify women at risk for developing breast cancer. The purpose of my paper is to delve into the positives and negatives of predictive genetic testing, as it is applied to breast cancer precursors. INTRODUCTION Before I go into details about how these genetic tests were developed, I want to first discuss how certain genes can trigger an inactive disease. The human body requires the actions of many proteins working together. For a protein to work properly, an intact gene must be encoded for a specific protein. A mutation describes a gene which has genetically been altered or changed. The most common type of mutation is a single change of a nucleotide in the DNA, but there are also other types of mutations, including loss or gain of a nucleotide, which is the disappearance of a segment of DNA (2). Mutations can have three basic effects: beneficial, harmful or no effect. Mutations can be beneficial if the fitness of an individual is enhanced....
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...metastasis 2) Adenoma-Carcinoma sequence a. Majority of colon cancer arise from polyps (adenomas) b. Accumulation of genetic mutations / events resulting in uncontrolled growth (dysplasia) c. Over time results in carcinoma 1. APC mutation on chromosome 5 (Early adenoma) 2. K-ras mutation on chromosome 12 3. TGF β, SMAD4 mutation (Late adenoma) 4. P53 mutation on chromosome 17 (Carcinoma) 5. Metastasis d. Evidences 1. Foci of cancer are frequently seen within large polyps 2. Adenomatous (dysplastic) tissue is frequently seen adjacent to large cancers 3. Similar distribution of polyps and cancers within the colon 4. 10-15 year progression of polyp to cancer 5. Reduction of polyps causes reduction in subsequent incidence of cancer 3) Tumorgenesis a. Chromosomal instability 1. Gain of function – oncogenes 2. Loss of function – tumor suppressor genes (APC genes in FAP) b. Epigenetic alteration (microsatellite instability) i. Altered methylation or defective mismatch repair genes resulting in erroneous DNA synthesis Increased mutation rate and microsatellite instability ii. Exemplified by germline mutations causing HNPCC /Lynch syndrome which is characterized by premature and proximal location of colon cancer c. Common pathways 1. Mutations in Ras pathway, Wnt pathway, loss of p53 tumor suppressor, and SMAD2/4 mutations i. Decreased exit or increased entry into cell cycle, and anti-apoptotic signaling Increased cell growth, decreased cell...
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...Before we begin to discuss the issues related to genetic diversity, we have to know exactly what genetic diversity is all about. It is a " term used to describe genetic differences among members of a population", according to Concepts in Biology 12th Edition written by Eldon Enger. There are several topics we can discuss when speaking about genetic diversity such as mutation, sexual reproduction, migration and population size. Let's start with Mutation. Mutation brought recent information into a population by transformaing alleles that already exist. Sometimes you will find that a mutation will introduce a new allele into the gene pool of a species. Many other times, a mutation can also introduce an allele that was not present in a regional population, although it is produced in other populations of the species. For example, if a dog is a carrier of a disease causing allele, the dog can transmit this disease to a human if bitten. Initially, it may just be a few dogs that are troublesome. Over time, mutations occur that enables a significant number of dogs to be carriers. This would now be considered a major issue for humans. On another hand, you have sexual reproduction that does not originate new alleles. Sexual Reproduction incline new genetic ingredients when the genetic report from two individuals combines with one another during the process of fertilization, creating a one of a kind individual. But, this doesn't alter the incidence of alleles within...
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...Genetics November 24, 2015 Unit 3 Final Project Breast Cancer Breast cancer is one of the leading causes of cancer among women and only affect one percent of men. There are multiple risk factors for breast cancer this include genetic abnormalities, unhealthy lifestyle, and environmental. The BRCA1 and BRCA2 are tumor-suppressor genes. The mutation and abnormalities of these genes could increase the people risk of breast cancer and also ovarian cancer. Cancer develops in the breast tissue mainly in the milk duct or glands. Usually, it starts with a development of a lump then it will spread to the breast. The treatment depends on the extent of cancer. Surgical procedures such mastectomy and lumpectomy are used to remove the tumor or the whole breast with cancer. Breast cancer can be detected early by undergoing a mammogram and genetic testing. The topic about breast cancer interests me, because I have patients who are diagnosed with this condition. This topic will give me an opportunity to understand and explore how breast cancer can be inherited and treated....
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