Mutation-Midterm-1.pptx BIOLOGICAL SCIENCE

MUTATION

1. Mutation changes in the genetic material

2. A mutation is a change in the DNA sequence. It may affect a single gene or an entire chromosome.

3. Importance of studying mutation Source of genetic variation Role in evolution Cause of genetic disorders

4. Types of Mutation 1 . Gene mutations 2. Chromosomal mutations Gene Mutations  Point mutation (substitution) Frameshift mutation (insertion/ deletion )

5. Examples of Gene Mutations   Sickle cell anemia (substitution )  is caused by a point mutation in the gene that codes for the beta-globin chain of hemoglobin. Specifically, it's a single nucleotide substitution where adenine (A) is replaced by thymine (T) in the DNA sequence.

6. • Cystic fibrosis ( deletion)

7. Chromosomal Mutations Deletion - is  a type of genetic mutation where  nucleotides are removed from the DNA sequence .  Duplication – is a type of genetic mutation where a segment of DNA is copied one or more times, leading to repeated sequences that can impact gene function and genome structure. Inversion Translocation

8. Causes of Mutation Spontaneous mutations - are genetic changes that occur naturally and spontaneously in the absence of any external agents . Induced mutations -  are alterations in the gene after it has come in contact with mutagens and environmental causes.

9. Physical Mutagens UV radiation X-rays

10. Chemical Mutagens Cigarette smoke Pesticides

11. Biological Mutagens Viruses (HPV → cervical cancer )

12. Beneficial Mutation Lactose tolerance in adults People with lactose intolerance are  unable to fully digest the sugar (lactose) in milk . As a result, they have diarrhea, gas and bloating after eating or drinking dairy products. The condition, which is also called lactose malabsorption , is usually harmless, but its symptoms can be uncomfortable . (can be avoided) Antibiotic resistance in bacteria

13. Harmful Mutations Genetic disorders Increased cancer risk

14. Increased cancer risk

15. Neutral Mutation Silent mutations that do not affect protein function where the changes in the nucleotide sequence of DNA do not produce any observable effect on the organism . - The change in nucleotide doesn’t produce a change in the amino acid sequence or the

16. Mutations and Evolution Mutations drive natural selection Example: Darwin’s finches (beak variation )   is  a key aspect of their adaptation to different environments and food sources.

17. Mutation in Everyday Life GMO crops

18. Medical research COVID-19 virus mutations

19. Terminologies Missense mutation – is a  point mutation  in which a single  nucleotide  change results in a  codon  that codes for a different  amino acid . Somatic mutation – is a change in the  DNA sequence  of a  somatic cell  of a  multicellular organism  with dedicated  reproductive cells ; that is, any  mutation  that occurs in a cell other than a  gamete ,  germ cell , or  gametocyte .

20. Xeroderma pigmentosum - is a rare genetic disorder. It causes hypersensitivity to ultraviolet (UV) light, eye problems and neurological symptoms.  Germline mutation - are changes to your DNA that you inherit from the egg and sperm cells during conception. Somatic mutations are changes to your DNA that happen after conception to cells other than the egg and sperm.

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