! ! What is a gene mutation and how do mutations occur?!

A gene mutation is a permanent change in the DNA sequence that makes up a gene. Mutations range in size from a single DNA building block (DNA base) to a large segment of a chromosome.! Gene mutations occur in two ways: they can be inherited from a parent or acquired during a persons lifetime. Mutations that are passed from parent to child are called hereditary mutations or germline mutations (because they are present in the egg and sperm cells, which are also called germ cells). This type of mutation is present throughout a persons life in virtually every cell in the body.! Mutations that occur only in an egg or sperm cell, or those that occur just after fertilization, are called new (de novo) mutations. De novo mutations may explain genetic disorders in which an a"ected child has a mutation in every cell, but has no family history of the disorder.! Acquired (or somatic) mutations occur in the DNA of individual cells at some time during a persons life. These changes can be caused by environmental factors such as ultraviolet radiation from the sun, or can occur if a mistake is made as DNA copies itself during cell division. Acquired mutations in somatic cells (cells other than sperm and egg cells) cannot be passed on to the next generation.! Mutations may also occur in a single cell within an early embryo. As all the cells divide during growth and development, the individual will have some cells with the mutation and some cells without the genetic change. This situation is called mosaicism.! Some genetic changes are very rare; others are common in the population. Genetic changes that occur in more than 1 percent of the population are called polymorphisms. They are common enough to be considered a normal variation in the DNA. Polymorphisms are responsible for many of the normal di"erences between people such as eye color, hair color, and blood type. Although many polymorphisms have no negative e"ects on a persons health, some of these variations may inuence the risk of developing certain disorders.! ! ! De novo mutations occur without no A Gene Mutation occurs when a DNA family history behind it, not hereditary. ! gene damaged or changed in such a It's a change in a gene that is present ! way that it messes up how you are for the rst time in one family member originally supposed to be. ! as a result of a mutation in a germ Polymorphisms are genetic ! cell. changes that are really ! common. They're considered Somatic mutations can occur in any
of the cells of the body except the cause any negative e"ects on a condition in which an organism germ cells, they are not passed down health, it may risk certain or part is composed of two or more to the child. They happen after disorders in the future. genetically distinct tissues, half consumption Bibliography: "What Is a Gene Mutation and How Do Mutations Occur?"David Ladunes mutation half normal cells. Genetics Home Reference. N.p., n.d. Web. 28 Jan. 2014
normal In DNA. They don't

! Mutations and Disease!

! DNA is constantly subject to mutations, accidental changes in its code. Mutations can lead to missing or malformed proteins, and that can lead to disease.! ! We all start out our lives with some mutations. These mutations inherited from your parents are called germ-line mutations. However, you can also acquire mutations during your lifetime. Some mutations happen during cell division, when DNA gets duplicated. Still other mutations are caused when DNA gets damaged by environmental factors, including UV radiation, chemicals, and viruses.! ! Few mutations are bad for you. In fact, some mutations can be benecial. Over time, genetic mutations create genetic diversity, which keeps populations healthy. Many mutations have no e"ect at all. These are called silent mutations.! ! But the mutations we hear about most often are the ones that cause disease. Some well-known inherited genetic disorders include cystic brosis, sickle cell anemia, Tay-Sachs disease, phenylketonuria and color-blindness, among many others. All of these disorders are caused by the mutation of a single gene.! ! Most inherited genetic diseases are recessive, which means that a person must inherit two copies of the mutated gene to inherit a disorder. This is one reason that marriage between close relatives is discouraged; two genetically similar adults are more likely to give a child two copies of a defective gene.! ! Diseases caused by just one copy of a defective gene, such as Huntington's disease, are rare. Thanks to natural selection, these dominant genetic diseases tend to get weeded out of populations over time, because a#icted carriers are more likely to die before reproducing.! ! Scientists estimate that every one of us has between 5 and 10 potentially deadly mutations in our genes-the good news is that because there's usually only one copy of the bad gene, these diseases don't manifest.! ! Cancer usually results from a series of mutations within a single cell. MOften, a faulty, damaged, or missing p53 gene is to blame. The p53 gene makes a protein that stops mutated cells from dividing. Without this protein, cells divide unchecked and become tumors.! ! ! Almost all inherited genetic diseases don't work ! because they only have one copy of the mutated ! gene. If you marry someone that has the same ! mutated gene as you, there is a probability that Bibliography:"Mutations and ! your child will have that disorder. Disease." Understanding Genetics. ! Mike Werner, 6 June 2010. Web. 27 ! There is a slight possibility that you can get Jan. 2014. ! ! a disease with only one mutated gene, ! which is called Huntington Disease, but it's ! really rare. ! ! ! ! !

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DNA fails to copy accurately!

Most of the mutations that we think matter to evolution are "naturally-occurring." For example, when a cell divides, it makes a copy of its DNA and sometimes the copy is not quite perfect. That small di"erence from the original DNA sequence is a mutation.! ! ! !

! ! ! ! ! ! ! ! External inuences can create mutations!

Mutations can also be caused by exposure to specic chemicals or radiation. These agents cause the DNA to break down. This is not necessarily unnatural even in the most isolated and pristine environments, DNA breaks down. Nevertheless, when the cell repairs the DNA, it might not do a perfect job of the repair. So the cell would end up with DNA slightly di"erent than the original DNA and hence, a ! ! ! ! ! ! ! ! When a cell divides it copies your ! DNA, at times it's not perfect. That ! one part that isn't copied perfectly is ! a mutation. ! Bibliography : Laurence, Jen. "The Causes ! of Mutations". The Causes of Mutations. ! N.p., 16 Sept. 2010. Web. 31 Jan. 2014. ! A Mutation can also be caused by ! too many chemicals or radiation ! exposures. It is not unnatural, when ! you damage a cell it automatically ! repairs itself, but it might not do a ! perfect copy, like it was before. ! hence a mutation. ! ! ! !

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