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Gene Mutations

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The body is made up of many cells that contain chromosomes that are known to have thread-like structures. Of the 23 pairs of chromosomes in our bodies, we inherit two of them from our parents, where one is from the father and the other from the mother. All these chromosomes together build the complete genetic information that can be termed as a set of instructions or thought to be an encyclopedia for how our bodies operate and function effectively. The body encyclopedia can be said to have individual volumes that we refer to them as the chromosomes where each has a part of our genetic information, which is in the form of genes. Genes act as the instructors of our bodies, dictating the body on how to work correctly. A change in one of our genes is most likely to affect the work of the gene and can result in various medical and health problems. DNA is termed as the letters of the genetic alphabet, which make up the genes in the body. Egg cells from the mother and the sperm cells from the father pass the DNA from one generation to the other.  A gene can be compared to a sentence in a page of a book where if a word is missing or a letter in a word is changed, it alters the intended meaning of the sentence. On the other hand, spelling mistakes in any of the genes are likely to affect how the gene functions and may result in problems with visible development and health in the body. Hence, the genes are responsible for the various characters and behaviors in people that can either be good or bad depending on the information encoded in a gene.

Changes or wrong spelling in a gene can result in ectodermal dysplasia, which is the condition referred to as mutation in medical terms. Genetic changes vary from one family to the other are they are unique at each bloodline. However, to individuals and families with the same mutation, there are high chances of variability in the way the condition is supposed to affect every member of the family. Therefore, it is hard to guess how a genetic change can affect you individually, just relying on the test results of a gene. If our mother’s or father’s gene does not have the mutation, we are set to develop normally, unlike when there is the presence of gene mutation, we are programmed to grow abnormally. The occurrence of a change in any of the 22 pairs DNA, which has no involvement in determining one’s gender that is termed to be autosomal, but if a sex pair has the mutation, it is termed as X-linked. It is impossible to modify or choose the genes that your children will have; hence the parents are not responsible for these genetic changes to take place. The chances that a parent has affected her child rely on the inheritance pattern of which type of ectodermal dysplasia affects that specific family. When the inheritance of ectodermal dysplasia occurs in an autosomal dominant manner, the affected parent has alone duplicate of the abnormal gene and is likely to pass it on to the children. There is a high percentage for every child to get an abnormal gene; nevertheless, the gender of the child or the parent. Parents with a single abnormal copy of the gene and single usual copy are called carriers but are not affected; hence there is a 50% chance the child may end up unaffected.

In conclusion, gene mutation permanently alters the DNA sequence that builds a gene in a way that the order varies from what many people have. Variations have different sizes; they can influence from base pair to a broad zone of a chromosome that involves multiple genes. There are two classifications ways of a gene mutation; hereditary mutations present in one’s life throughout in every cell in the body and are inherited from the parents. Again, we have the acquired mutations which occur during a person’s life and are not present in every cell but some specific cells. Environmental factors can result in this type of change, such as sun ultra radiation rays or if an error is made when DNA duplicates itself during the division of the cell. Most of the gene mutations responsible for causing diseases are uncommon in the population in general, although some genetic changes tend to occur frequently. Polymorphisms are genetic alterations appearing more than 1% in the whole community; hence, they are considered a noticeable change in the DNA because they are richly common. Polymorphisms are liable for most of the common differences among people, such as hair color, eye color, and blood type. Although most polymorphisms do not affect people negatively on a health basis, some of these variations are likely to impact the danger of developing certain disorders.  Researchers and scientists’ efforts to control the hereditary diseases have proven effective, though, where the parents are responsible for the gene mutations which affect their children, it is not a cause of alarm. Conditions and health development of children can be improved and controlled with proper medical care. Again, gene mutation does not entirely transfer adverse effects but also the strengths that are associated with that family line.

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