DNA Mutation.

Dr. Kamajaya, MSc.,SpAnd. Dept. Biologi FK-USU Medan.

DNA Mutation.
Definition : The process by which the sequence of base pairs in a DNA

molecule is altered. Mutation :

Somatic mutation : a mutation occur in a somatic cell. Germ-line mutation : a mutation in the germ-line of sexually reproducing organisms may be transmitted by the gametes to the next generation, producing an individual with the mutation in both its somatic and the germ-line cells. Two different terms are used to give a quantitative measure of mutation :

1. The mutation rate :

is the probability of a particular kind of mutation as a function of time, such as the number of mutations per nucleotide pair per generation. is the number of occurences a particular kind of mutation, expressed as the proportion of cells or individuals in a population, such as the number of mutations per 100,000 organisms or the number per 1 million gametes.

2. The mutation frequency :

DNA Mutation
The form of mutations :

Chromosomal mutations = Change involving whole chromosomes or sections of them. A gene mutation = mutation that effect the function of gene. Point mutation = a change of one or a few base pairs. a number through : 1. Spontaneous changes,

DNA can be change in :

2. Errors in the replication process, or 3. The action of particular chemicals or radiation. Certain genetic elements move from one location to another in the genome named Transposable elements.

Types of point mutations.

Mutation which change only one or a few base-pairs divided into 2 general categories : A. Base-pair substitutions mutations. A change in the DNA such that one base-pair is replaced by another. 1. a transition mutation : a mutation from one purinepyrimidine base-pair to the other purine-pyrimidine basepair. AT to GC, GC to AT, TA to CG & CG to TA. 2. a transversion mutation : a mutation from a purinepyrimidine base-pair to apyrimidine-purine base-pair. AT to TA, TA to AT, GC to CG, CG to GC, AT to CG, CG to AT, GC to TA, CG to AT. B. Base-pair insertions or deletions. One or more base-pair are added to or deleted from a protein coding gene the reading frame of an mRNA can chasnge downstream of the mutation. Frameshift mutation.

A. Base-pair substitution mutation.

Base-pair substitutions in protein-coding genes can be defined accor-

ding to their effects on amino-acid sequences in proteins. Depending on how abase-pair substitution is translated via the genetic code ?

1. A missense mutation.

A base-pair change in the DNA change in an mRNA codon different amino-acid is inserted into the polypeptide may or may not change in phenothypes. An AT-to-GC transition mutation, from 5-AAA-3 to 5-GAA-3, altering the mRNA codon from Lysine Glutamic acid. A base-pair change in DNA changes an mRNA codon for an amino-acid to a stop (nonsense) codon (UAG, UAA, or UGA). An AT-to-TA transversion mutation change the mRNA codon from 5-AAA-3 to 5-TAA-3 from Lysine to a nonsense codon. A nonsense mutation causes premature chain termination polypeptide fragments shorter than normal (often nonfunctional), are released from the ribosomes.

2. A nonsense mutation.

A. Base-pair substitution mutation.

3. A neutral mutation.

A base-pair change changes a codon in the mRNA amino-acid substitution produces no detectable change in the function of the protein translated from the message. A neutral mutation is a subset of missense mutations in which the new codon codes for a different amino acid that is chemically equivalent to the original and therefore does not affect the proteins function. An AT to GC transition mutation, change the codon from 5-AAA-3 to 5-AGA-3, which substitutes the basic amino acid Arginine for the basic amino-acid Lysine. Arginine and Lysine have similar properties, the proteins function may not be altered significantly. A subset of missense mutations that occurs when a base-pair change in a gene alters a codon in the mRNA such that the same amino-acid is inserted in the protein. Mutation from an AT-to-GC transition mutation that changes the codon from 5-AAA-3 to 5-AAG-3, both of which specify Lysine.

4. A silent mutation.

A. Base-pair substitution mutation.

DNA-point mutation

mRNA-codon
5-AAA-3 to 5-GAA-3

Translation.
Lysine to Glutamic acid Missense mutation Neutral mutation

AT-to-GC mutation

5-AAA-3 to 5-AGA-3

Lysine to acid arginine

5-AAA-3 to 5-AAG-3

Lysine to Lysine

Silent mutation

AT-to-TA mutation

5-AAA-3 to 5-UAA-3

Lysine to nonsense

Nonsense mutation

Reverse Mutations and Suppressor Mutations.

Reverse mutations.

in the term of the phenotypic effect of the point mutations 2 classes :

1. Forward mutations, Change the genotype from wild type to mutant. 2. Reverse mutations or Reversions or Back mutations. Change the genotype from mutant to wild type or partially wild type.
Suppressor mutations. A mutation at a different site from that of the original mutation masks and compensates for the effects of the initial mutation. May occur within the same gene with the original mutations, but at a different site Intragenic; or may occur in a different gene Intergenic.

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