Mutation

5.3

Mutation

Mutation Definition

Mutation is a spontaneous and random change that takes place in the genes and chromosomes that can cause changes of characteristic to the offspring who inhetits the modified genes

Mutation

Chromosome mutation	Gene mutation
Number chromosome change	Structure of gene change
Down Syndrome Turner Syndrome Klinefelter syndrome	Colour blindness Sickle cell anaemia Thalassemia Haemophilia Albinism

Chromosome mutation

Types of chromosome	Amount of chromosome and its characteristic
Down syndrome Extra chromosome in chromosome number 21	Physical and mental retardation Short neck Slanted eyes Short stocky body 47 chromosomes
Turner syndrome Less number of sex chromosomes	A person with Turner syndrome is a female Cannot undergo the development of secondary sexual characteristic of female Sterile 45 chromosomes
Klinefelter syndrome More number of sex chromosomes	A person with Klinefelter syndrome is male Will develop female characteristic such as breasts and small testis Sterile 47 chromosomes

Gene mutation

Disease	Characteristics
Colour blind	Caused by mutant recessive genes on chromosome X Patient unable to differentiate between red and green colours Usually occurs in males
Sickle cell anaemia	Caused by a recessive gene on the autosome Affected the gene responsible for production of haemoglobin Red blood cells are crescent shaped which affect the transportation of oxygen
Thalasassemia	Caused by the mutation of the gene that controls the production of haemoglobin Small red blood cells and the lifespan of the cells is short Can cause severe blood deficiency
Haemophilia	Caused by mutation on the gene producing the blood clotting factor Difficulty in the clotting in blood Patient will lose blood continuously if wonded or injured

Factors that cause mutation

Natural
Pregnancy at a late age
Carcinogens
Ultraviolet rays
X-rays
Radioactive rays

Genetic screening

To detect gene disorder disease
Examples:
- Karyototyping - to test the number, size and shape of chromosomes in the nucleus of a cell
- Amniocentesis - to identify foetal cell abnormalities from 15th to the 20th week of pregnancy

Application of genetic research to improve quality of life

Field	Application & Description
Medical	Gene therapy To treat or replace gene disorder disease with healthy gene
Agriculture	Genetic modified food Produce crops and livestck that mature quickly High quality and quantity of yield High resistace towards disease
Forensic science	DNA test for genetic genealogy Carries out the study on crime investigation by identifying and confirming the chronology of an incident based on scientific evidence obtained

Mutation

5.3

Mutation

Mutation Definition

Mutation is a spontaneous and random change that takes place in the genes and chromosomes that can cause changes of characteristic to the offspring who inhetits the modified genes

Mutation

Chromosome mutation	Gene mutation
Number chromosome change	Structure of gene change
Down Syndrome Turner Syndrome Klinefelter syndrome	Colour blindness Sickle cell anaemia Thalassemia Haemophilia Albinism

Chromosome mutation

Types of chromosome	Amount of chromosome and its characteristic
Down syndrome Extra chromosome in chromosome number 21	Physical and mental retardation Short neck Slanted eyes Short stocky body 47 chromosomes
Turner syndrome Less number of sex chromosomes	A person with Turner syndrome is a female Cannot undergo the development of secondary sexual characteristic of female Sterile 45 chromosomes
Klinefelter syndrome More number of sex chromosomes	A person with Klinefelter syndrome is male Will develop female characteristic such as breasts and small testis Sterile 47 chromosomes

Gene mutation

Disease	Characteristics
Colour blind	Caused by mutant recessive genes on chromosome X Patient unable to differentiate between red and green colours Usually occurs in males
Sickle cell anaemia	Caused by a recessive gene on the autosome Affected the gene responsible for production of haemoglobin Red blood cells are crescent shaped which affect the transportation of oxygen
Thalasassemia	Caused by the mutation of the gene that controls the production of haemoglobin Small red blood cells and the lifespan of the cells is short Can cause severe blood deficiency
Haemophilia	Caused by mutation on the gene producing the blood clotting factor Difficulty in the clotting in blood Patient will lose blood continuously if wonded or injured

Factors that cause mutation

Natural
Pregnancy at a late age
Carcinogens
Ultraviolet rays
X-rays
Radioactive rays

Genetic screening

To detect gene disorder disease
Examples:
- Karyototyping - to test the number, size and shape of chromosomes in the nucleus of a cell
- Amniocentesis - to identify foetal cell abnormalities from 15th to the 20th week of pregnancy

Application of genetic research to improve quality of life

Field	Application & Description
Medical	Gene therapy To treat or replace gene disorder disease with healthy gene
Agriculture	Genetic modified food Produce crops and livestck that mature quickly High quality and quantity of yield High resistace towards disease
Forensic science	DNA test for genetic genealogy Carries out the study on crime investigation by identifying and confirming the chronology of an incident based on scientific evidence obtained

Mutation

Mutation

Chapter : Genetics

Topic : Mutation

Related notes