Mutations 
Ms Hou
What is mutation?
What is mutation? 
 Mutation is a 
permanent 
change in 
the genetic 
information.
Types of mutation 
 Somatic Mutation 
Mutation occurs in 
any body cells 
EXCEPTS gametes. 
 Somatic mutation 
cannot pass on to 
the next 
generation. 
 E.g: Lung Cancer 
 Germ line Mutation 
Mutation occurs in any 
body, especially in the 
reproductive organ such 
as sperm or egg. 
 Germ line mutation 
can pass on to the 
next generation. 
 E.g: Huntington’s 
disease
What causes mutation? 
Ionising radiation. 
Ionising radiation such as UV light, X-ray, and 
gamma rays can alter DNA to cause cancers and 
other harmful conditions. E.g : skin cancer 
Chemical agents. 
Chemical agents that causes mutations include 
environmental poisons and irritants such as 
tobacco tar and high alcohol intake. 
Biological agents. 
Virus and Bacteria that alter the structure of DNA. 
E.g: HPV increases the risk of cervical cancer.
Sc10 0906
Changes on DNA 
•Adenine  Thymine 
•Cytosine  Gaunine 
•22 pairs autosomal Chromosomes (44) 
•1 pair sex – linked chromosomes (2)
Mutation 
 Substitution (Silent Mutation) 
During the coping process one of the bases are 
copied wrong or lost, then gets substituted with 
the wrong one.
Mutation 
 Insertion (Frame Shift) 
After the chain breaks, during the fixing 
process extra bases are added and then 
one side of the chromosome is one or 
more bases longer
Gene Mutation 
 Deletion (Frame Shift) 
After the chain breaks, during the fixing 
process, extra bases are lost and then one 
side of the chromosome is one or more 
bases shorter.
Chromosome Mutation
Medical Technology 
Amniocentesis is performed 
between 16 and 20 weeks 
into the pregnancy. By 
around this time, the 
developing baby is 
suspended in amniotic 
fluid. A thin needle is used 
to withdraw a small 
amount of this fluid from 
the sac surrounding the 
fetus. 
It can be used to test: 
Down syndrome 
Cystic Fibrotic 
Fragile X syndrome
Chorionic Villus 
Sampling (CVS) 
 CVS test genetic 
abnormalities by taking 
a tiny sample piece of 
the placenta tissue 
using a slender needle. 
 It is specifically used to 
detect genetic disorder 
disease such as Down 
syndrome or cystic 
fibrosis.
Karyotype 
 Karyotype is an organised profile of a 
person’s chromosomes. 22 pairs autosome 
and 1 pair of sex chromosomes.
Karyotype of Disease
Genetic Disorder 
Diseases 
 Research on the questions on the genetic 
disorder disease answer sheet. 
 You should provide answers of each questions 
in details. 
 Finish the answer sheet in 20 mins, then go to 
moodle. 
 Under Year 10 Biological Science, go to the 
group number link.
Padlet 
 Key in the password “ Mutation”, then you 
can write your answers on the wall. 
 Here is your seating plan and Code, write the 
Code in the top left box on your answer 
sheet. 
 Write Relevant Content ONLY 
1A 1B 1C 1D 5A 5B 5C 5D 
2A 2B 2C 2D 6A 6B 6C 6D 
3A 3B 3C 3D 7A 7B 7C 7D 
4A 4B 4C 4D 8A 8B 8C 8D
Quiz Time (lol) 
1) Define mutation. 
Mutation is a sudden and ____________change on genes. 
2) List two types of mutation and identify their differences. 
3) Define Karyotype 
4) List three possible mutagens ( agents that can increase 
the rate of mutation) 
5) List 2 medical technologies to detect genetic disorder.

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Sc10 0906

  • 3. What is mutation?  Mutation is a permanent change in the genetic information.
  • 4. Types of mutation  Somatic Mutation Mutation occurs in any body cells EXCEPTS gametes.  Somatic mutation cannot pass on to the next generation.  E.g: Lung Cancer  Germ line Mutation Mutation occurs in any body, especially in the reproductive organ such as sperm or egg.  Germ line mutation can pass on to the next generation.  E.g: Huntington’s disease
  • 5. What causes mutation? Ionising radiation. Ionising radiation such as UV light, X-ray, and gamma rays can alter DNA to cause cancers and other harmful conditions. E.g : skin cancer Chemical agents. Chemical agents that causes mutations include environmental poisons and irritants such as tobacco tar and high alcohol intake. Biological agents. Virus and Bacteria that alter the structure of DNA. E.g: HPV increases the risk of cervical cancer.
  • 7. Changes on DNA •Adenine  Thymine •Cytosine  Gaunine •22 pairs autosomal Chromosomes (44) •1 pair sex – linked chromosomes (2)
  • 8. Mutation  Substitution (Silent Mutation) During the coping process one of the bases are copied wrong or lost, then gets substituted with the wrong one.
  • 9. Mutation  Insertion (Frame Shift) After the chain breaks, during the fixing process extra bases are added and then one side of the chromosome is one or more bases longer
  • 10. Gene Mutation  Deletion (Frame Shift) After the chain breaks, during the fixing process, extra bases are lost and then one side of the chromosome is one or more bases shorter.
  • 12. Medical Technology Amniocentesis is performed between 16 and 20 weeks into the pregnancy. By around this time, the developing baby is suspended in amniotic fluid. A thin needle is used to withdraw a small amount of this fluid from the sac surrounding the fetus. It can be used to test: Down syndrome Cystic Fibrotic Fragile X syndrome
  • 13. Chorionic Villus Sampling (CVS)  CVS test genetic abnormalities by taking a tiny sample piece of the placenta tissue using a slender needle.  It is specifically used to detect genetic disorder disease such as Down syndrome or cystic fibrosis.
  • 14. Karyotype  Karyotype is an organised profile of a person’s chromosomes. 22 pairs autosome and 1 pair of sex chromosomes.
  • 16. Genetic Disorder Diseases  Research on the questions on the genetic disorder disease answer sheet.  You should provide answers of each questions in details.  Finish the answer sheet in 20 mins, then go to moodle.  Under Year 10 Biological Science, go to the group number link.
  • 17. Padlet  Key in the password “ Mutation”, then you can write your answers on the wall.  Here is your seating plan and Code, write the Code in the top left box on your answer sheet.  Write Relevant Content ONLY 1A 1B 1C 1D 5A 5B 5C 5D 2A 2B 2C 2D 6A 6B 6C 6D 3A 3B 3C 3D 7A 7B 7C 7D 4A 4B 4C 4D 8A 8B 8C 8D
  • 18. Quiz Time (lol) 1) Define mutation. Mutation is a sudden and ____________change on genes. 2) List two types of mutation and identify their differences. 3) Define Karyotype 4) List three possible mutagens ( agents that can increase the rate of mutation) 5) List 2 medical technologies to detect genetic disorder.