1. Point Mutation Change within a gene in which one base pair in the DNA sequence is altered.

The outcome of radiation is a change in the genetic message coded by the gene. Point mutations are frequently the result of mistakes during DNA replication, although modification of DNA, such as through e posure to also can induce point mutations. Causes of mutations: (a) Spontaneous mutations are mutations which arise because or errors in the DNA duplication process. As part of this process, there is a proof reading mechanism in!ol!ing one of the DNA polymerases. "ut this process is not one hundred percent perfect, leading to a low le!el of mutations per generation. #or humans this mutation rate is about $ $%&' mutations per gene locus per generation. This means that it is likely that most of us are carrying at least one new mutation not found in our parents. (b) Induced mutations are mutations brought about by e posure to chemicals, (&rays or to )* radiation or !arious forms of radiation. Pollution, cigarette smoke, and sunlight also can induce point mutations. 2. Silent mutations +ilent mutations are a type of substitution mutations in which a base substitution in the DNA template results in no change in the amino acid. This is because the substitution simply results in another codon for the same amino acid. Thus these mutations are silent, since you cannot detect them by looking at the protein,s sequence of amino acids. The theory of e!olution is greatly dependent on point mutations in cells. The theory e plains the di!ersity of and history of li!ing organisms on -arth. .n relation to point mutations, it says that beneficial mutations allow the organism to thri!e and reproduce, thereby passing its positi!ely affected mutated genes on to the ne t generation. /n the other hand, harmful mutations cause the organism to die or be less likely to reproduce in a phenomenon known as natural selection. .t was pre!iously belie!ed that these mutations happened completely by chance, with no regard for their effects on the organisms. 0ecently, there ha!e been studies suggesting that these mutations occur in response to en!ironmental challenges. That is to say, they are more likely to occur when they are ad!antageous to the organism, rather than when they are neutral or disad!antageous. 1hen cells were depri!ed of a certain amino acid, tryptophan, for prolonged periods of time, point mutations in trp operon re!erted to tryptophan, leading to an ad!antageous result, more frequently than under normal conditions when mutations were neutral. Additionally, the tryptophan mutation rate was unaffected when the cells were depri!ed of another amino acid cysteine, further suggesting that the mutation rate was specific to situations in which the mutation was ad!antageous. 3. Missense mutation 2issense mutation is a change in a single base in the DNA template which results in a change in a single amino acid in the final polypeptide. - . .n a missense mutation, the original glycine is replaced by arginine, a basic amino acid. This is not either a neutral or a silent missense mutation since an amino acid is replaced with one chemically quite distinct. This sort of missense mutation is likely to cause problems with the structure of the mutant polypeptide. - 3 sickle& cell disease. The replacement of A by T at the $4 th nucleotide of the gene for the beta chain of haemoglobin changes the codon 5A5 6for glutamic acid7 to 5T5 6which encodes for !aline7. Thus the ' th amino acid in the chain becomes !aline instead of glutamic acid. A missense mutation changes a codon so that a different protein is created, a non&synonymous change. At times a change to one amino acid in the protein is not detrimental to the organism as a whole. 2ost proteins can withstand one or two point mutations before their functioning changes. /ther times the protein will lose its function which can result in a disease in the organism. 4. Nonsense mutations A nonsense mutation is a mutation that replaces a codon for an amino acid with one of the three stop codons where there was not one before. This leads to an early termination of transcription resulting in a shortened and usually non&functional polypeptide. The earlier in the gene that this occurs, the more punctuated the protein product and the more likely that it will be unable to function.

. !rames"ift mutations: #rame shift mutations are caused by insertions or deletions of a number of nucleotides that is not e!enly di!ided by three from a DNA sequence. +ince a base is either added or remo!ed from a codon, the effect is to shift the codons as read during translation by one position which radically alters the meaning of the m0NA in terms of how it is translated. To illustrate the concept, suppose the messenger 0NA resulting from the original DNA can be thought of as the following string of letters decoded by reading each group of three non o!erlapping letters3 T8-".5CATAT-T8-0AT 9

T8- ".5 CAT AT- T8- 0AT. .f the third letter6-7 in our string is deleted we ha!e3 T8".5CATAT-T8-0AT 9 T8" .5C ATA T-T 8-0 AT which makes no sense when decoded.