Mutation

Charmaine Gicana

Aki S. Otani

Physical Sciences Dept. College of Science

De La Salle University-Dasmariñas Cavite

March 15, 2010

ABSTRACT

The causes, classification, and types of mutation are discussed in this paper. Thus the
objective of this research paper is to determine different types of mutation and to classify each. Mutation
alters the genome of a specie thus inflicting damage to its physical and mental makeup. The most
common types of mutation are Point mutation, Frameshift mutation, Deletion, Insertion, Inversion, and
Substitution, thus, additional information regarding this topic is found at the results and discussion
section.

CHA dagdagan m po ung abstract

INTRODUCTION

Since prehistoric times, people are determined to decipher new secrets of human existence.

Geneticists in particular, discovered certain disorders that are amassing in some animals, plants and

human’s genetic makeup causing massive changes in their physical appearance and mental capacities.

An alteration in the DNA sequence of a cell's genome, entirety of an organism's hereditary information,

called “mutation” is the term used by the scientists in explaining these abnormal occurrences. <Bertram J

(2000). "The molecular biology of Cancer". Mol. Aspects Med. 21 (6): 167–223.>

 The term mutation was originally coined by Dutch botanist Hugo De Vries (1848–1935) to

describe a new approach to explain evolution, although it is quite different than the current definition. De

Vries discovered new forms of the Evening Primrose (Oenothera lamarcklana) that were growing in a

meadow. He attributed these new varieties and the method for which new species arise to what he called

mutations. As a result of his observations, Gregor Mendel's principles of heredity were rediscovered and

helped to explain variability within and between species. Today, technological advances in

deoxyribonucleic acid (DNA) analysis have provided scientists with tools to rapidly sequence the human

genome. One of the main benefits of this technology is to identify mutations or alterations in the DNA

sequence that might be associated with disease. A growing field called bioinformatics is becoming a

useful field in understanding and identifying gene mutations by addressing the computational challenges

of analyzing the large amount of sequencing data. DNA chips or microarrays have also recently emerged

with applications that involve whole-genome scanning mutation detection.

There are many different types of mutations in the human genome and is either considered major

gene rearrangements or point mutations, both of which are discussed in more detail below. Major gene

rearrangements involve DNA sequences that have deletions, duplications, or insertions. Point mutations

are single substitutions of a specific letter of the DNA alphabet (i.e. adenine, guanine, cytosine, or

thymine). Alterations in the DNA sequence can result in an alteration of the protein sequence, expression,

and/or function. (Friedman, J., F. Dill, M. Hayden, B. McGillivray Genetics. Maryland: Williams &

Wilkins, 1996. Retrieved March 12, 2010 from http://science.jrank.org/pages/2949/Gene-Mutation.html)

Based on_____(book)_________ by __author___, mutation is change in the nucleotide

sequence of a gene. Although the initial change may not occur in the sense strand of double-stranded

DNA molecule, for that gene, after replication, daughter molecule with mutations in the sense strands will

segregate and appear in the population of organisms. Irreversible alteration of a few DNA base pairs can

cause drastic changes in the organism. These changes, referred to as mutations, may be hidden or

visible, that is, phenotypically silent or expressed. Therefore, a mutation is defined as a stable change in
DNA structure of a gene, which may be expressed as a phenotypic change in the organism. ( CHA

PALAGAY PO UN REF^^)

According to Encyclopedia Britannica, mutagens are any agent capable of altering the genetic

constitution of a cell by changing the structure of the hereditary material, deoxyribonucleic acid (DNA).

Many forms of electromagnetic radiation (e.g., cosmic rays, X rays, ultraviolet light) are mutagenic, as are

a variety of chemical compounds. (Encyclopedia Britannica (2010), “Mutagen”. Retrieved March 12,

2010 from http://www.britannica.com/EBchecked/topic/399651/mutagen)

Results and Discussion

According to Prescott, Harley and Klein, Mutations were initially characterized as altered

phenotypes or phenotypic expressions. Long before the existence of direct proofs that a mutation

is the result of a stable, inheritable change. In the nucleotide sequence of DNA, geneticists

predicted the several that several types of transmitted mutations could exist. They believed that

mutation can arise from the alterations of single pairs of nucleotide pairs and from the addition or

deletion of one or two nucleotide pairs in the coding regions of a gene. (Prescott, Harley, Klein

(1996), “Microbiology”. United States of America: The McGraw- Hill companies, Inc.)

Mutations can occur in one of two ways: Spontaneous mutations arise occasionally in all

cells and develop in the absence of any duded agent. Induced mutations, on the other hand, are

the result of the exposure of the organism to some physical or chemical agent called mutagen. .

(Prescott, Harley, Klein (1996), “Microbiology”. United States of America: The McGraw- Hill

companies, Inc.)

Spontaneous mutation is a class of mutation that may result from errors in DNA

replication, damage to DNA from factors such as gamma radiation and heat. Induced Mutation is caused

by mutagens that attacks the genetic makeup of a specie.

 Mutagens are any agent capable of altering the genetic constitution of a cell by changing the

structure of the hereditary material, deoxyribonucleic acid (DNA). There modes in which how mutagens

attack the DNA genome of an organism. These four modes of Mutagen actions are:

1.) Base Analogs- is similar to normal nitrogenous bases and can be incorporated into the growing

polynucleotide chain during replication.

2.) Specific Mispairing is caused when a mutagen changes a base’s structure and therefore alters its

base pairing characteristics.

3.) Intercalating agents distort DNA to induce single nucleotide pair insertions and deletions.

(Prescott, Harley, Klein (1996), “Microbiology”. United States of America: The McGraw- Hill

companies, Inc.)

Table 1: Types of DNA Mutations and Their Impact

Human Disease(s) Linked to
Class of Mutation Type of Mutation Description
This Mutation
     
 
Point mutation One base is

incorrectly added
 
during replication and

replaces the pair in the

Sickle-cell anemia
Substitution
corresponding position
 
 
on

thecomplementary stra

nd

 
Insertion One or more extra One form of beta-thalassemia

  nucleotides are
 
 inserted into

replicating DNA, often

resulting in a

frameshift

 
One or more

nucleotides is

"skipped"
Cystic fibrosis
Deletion during replication or

  otherwise excised,
 
often resulting in a

frameshift

 
Chromosomal  One region of

mutation Inversion a chromosomeis Opitz-Kaveggia syndrome

    flipped and reinserted  

 
A region of

a chromosome is lost,

Deletion resulting in the Cri du chat syndrome

  absence of all the  

genes in that area

 
Duplication A region of Some cancers

  a chromosome is
 
repeated, resulting in

an increase in dosage

from the genes in that

 region

 
A region from

onechromosome is
One form of leukemia
Translocation
aberrantly attached to
 
 
anotherchromosome

 
The number of tandem
Some breast cancers
Gene amplification copies of a locus is

  increased
 

Copy number  
The normal number of
variation
Fragile
repeated trinucleotide
  Expanding
X syndrome,Huntington's disea
sequences is
trinucleotide repeat
se
expanded
 
 
 

Table 1 summarizes the classes and types of mutation. The description of each types are also

visible as well as its effects on humans. The DNA in any cell can be altered through environmental

exposure to certain chemicals, ultraviolet radiation, other genetic insults, or even errors that occur during

the process of replication. If a mutation occurs in a germ-line cell (one that will give rise to gametes,

i.e., egg or sperm cells), then mutation can be passed to an organism's offspring. This means that

every cell in the developing embryo will carry the mutation. As opposed to germ-line mutations, somatic

mutations occur in cells found elsewhere in an organism's body. Such mutations are passed to daughter

cells during the process of mitosis , but they are not passed to offspring conceived via

sexual reproduction. (Nature Education (2010), “Genetic Mutation”. Scitable: a Collaborative

Learning Place for Science. Retrieved March 12, 2010 from

http://www.nature.com/scitable/topicpage/Genetic-Mutation-441)
REFERENCES

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B. Websites

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