MUTATION OF DNA IN AN ORGANISM DELETION INSERTION

DNA MUTATION

1. Living Things and Their Environment Grade 10 U NIT III:

2. 𝐁𝐄𝐋𝐋-𝐑𝐈𝐍𝐆𝐄𝐑 𝐀𝐂𝐓𝐈𝐕𝐈𝐓𝐘 Read the sentence below as an analogy representing the strand of DNA. 𝐓𝐇𝐄 𝐂𝐀𝐓 𝐀𝐓𝐄 𝐓𝐇𝐄 𝐑𝐀𝐓

3. 𝐁𝐄𝐋𝐋-𝐑𝐈𝐍𝐆𝐄𝐑 𝐀𝐂𝐓𝐈𝐕𝐈𝐓𝐘 a. THE H AT ATE THE RAT. b. THE C CA TAT ETH ERA T. c. THC ATA TET HER AT. Identify the changes and describe how these changes affect the meaning/thought of the sentence.

4. Grade 10 𝐌𝐔𝐓𝐀𝐓𝐈𝐎𝐍 : 𝑪𝒉𝒂𝒏𝒈𝒆𝒔 𝒊𝒏 𝒕𝒉𝒆 𝑮𝒆𝒏𝒆𝒕𝒊𝒄 𝑪𝒐𝒅𝒆

5. Mutations are changes in genetic material – changes in DNA Code – thus change in gene(s). 𝐖𝐡𝐚𝐭 𝐢𝐬 𝐚 𝐆𝐞𝐧𝐞 𝐌𝐮𝐭𝐚𝐭𝐢𝐨𝐧?

6. In gene mutations , the DNA code will have a base (or more) missing , added , or exchanged in a codon . 𝐖𝐡𝐚𝐭 𝐢𝐬 𝐚 𝐆𝐞𝐧𝐞 𝐌𝐮𝐭𝐚𝐭𝐢𝐨𝐧?

7. 𝑯𝒐𝒘 𝒄𝒐𝒎𝒎𝒐𝒏 𝒂𝒓𝒆 𝒎𝒖𝒕𝒂𝒕𝒊𝒐𝒏𝒔? Mutations are relatively common occurrences in the genetic material of organisms. This can happen spontaneously during DNA replication or as a result of exposure to mutagenic agents such as radiation or certain chemicals .

8. Mutations are not always seen. The affected gene will still function. Mutations may be harmful . Mutations may be beneficial. Mutations may have no effect on the organism. 𝑯𝒐𝒘 𝒄𝒐𝒎𝒎𝒐𝒏 𝒂𝒓𝒆 𝒎𝒖𝒕𝒂𝒕𝒊𝒐𝒏𝒔?

9. 𝑯𝒐𝒘 𝒎𝒖𝒕𝒂𝒕𝒊𝒐𝒏𝒔 𝒂𝒓𝒆 𝒊𝒏𝒉𝒆𝒓𝒊𝒕𝒆𝒅? Only mutations in gametes (egg and sperm) are passed onto offspring . Mutations in body cells only affect the organism in which they occur and are not passed into offspring.

10. Types of Gene Mutations Point Mutation occurs when the base sequence of a codon is changed. ex. GCA is changed into G A A There are three types: Substitution Deletion Insertion are also called frameshift mutations

11. 𝐒𝐔𝐁𝐒𝐓𝐈𝐓𝐔𝐓𝐈𝐎𝐍 𝐌𝐔𝐓𝐀𝐓𝐈𝐎𝐍 Normal DNA strand: GAT – T T A - CCT GAT – T C A - CCT Mutated DNA strand: THE C AT ATE THE RAT. THE H AT ATE THE RAT. 𝑾𝒉𝒂𝒕 𝒉𝒂𝒑𝒑𝒆𝒏𝒆𝒅 𝒕𝒐 𝒕𝒉𝒆 𝑫𝑵𝑨?

12. 𝐒𝐔𝐁𝐒𝐓𝐈𝐓𝐔𝐓𝐈𝐎𝐍 𝐌𝐔𝐓𝐀𝐓𝐈𝐎𝐍 In this type of mutation, one nucleotide base is replaced by another . For example, a thymine (T) may be substituted with a cytosine (C) in the DNA sequence. Normal DNA strand: GAT – T T A - CCT GAT – T C A - CCT Mutated DNA strand:

13. 𝐓𝐘𝐏𝐄𝐒 𝐒𝐔𝐁𝐒𝐓𝐈𝐓𝐔𝐓𝐈𝐎𝐍 𝐌𝐔𝐓𝐀𝐓𝐈𝐎𝐍 SILENT MUTATION is when a single base pair gets swapped out on the DNA, but the mutated RNA sequence produces the same amino acid.

14. 𝐓𝐘𝐏𝐄𝐒 𝐒𝐔𝐁𝐒𝐓𝐈𝐓𝐔𝐓𝐈𝐎𝐍 𝐌𝐔𝐓𝐀𝐓𝐈𝐎𝐍 MISSENSE is when a nucleotide gets changed, resulting in a different amino acid in the protein. This is the type of mutation that causes sickle cell anemia.

15. 𝐓𝐘𝐏𝐄𝐒 𝐒𝐔𝐁𝐒𝐓𝐈𝐓𝐔𝐓𝐈𝐎𝐍 𝐌𝐔𝐓𝐀𝐓𝐈𝐎𝐍 NONSENSE is the worst type of substitution mutation. This type of mutation occurs when a base change causes an early stop codon.

16. 𝐈𝐍𝐒𝐄𝐑𝐓𝐈𝐎𝐍 𝐌𝐔𝐓𝐀𝐓𝐈𝐎𝐍 Mutated DNA strand: GAT – TT A - GGG - CCT Normal DNA strand: GAT – T T A - CCT THE C AT ATE THE RAT. THE C CA TAT ETH ERA T. 𝑾𝒉𝒂𝒕 𝒉𝒂𝒑𝒑𝒆𝒏𝒆𝒅 𝒕𝒐 𝒕𝒉𝒆 𝑫𝑵𝑨?

17. 𝐈𝐍𝐒𝐄𝐑𝐓𝐈𝐎𝐍 𝐌𝐔𝐓𝐀𝐓𝐈𝐎𝐍 An insertion mutation occurs when an extra nucleotide base is added to the DNA sequence. This can lead to a shift in the reading frame and alter the subsequent amino acid sequence. Mutated DNA strand: GAT – TT A - GGG - CCT Normal DNA strand: GAT – T T A - CCT

18. 𝐃𝐄𝐋𝐄𝐓𝐈𝐎𝐍 𝐌𝐔𝐓𝐀𝐓𝐈𝐎𝐍 Mutated DNA strand: GA – TT A - CCT Normal DNA strand: GAT – T T A - CCT TH E C AT ATE THE RAT. THC ATA TET HER AT. 𝑾𝒉𝒂𝒕 𝒉𝒂𝒑𝒑𝒆𝒏𝒆𝒅 𝒕𝒐 𝒕𝒉𝒆 𝑫𝑵𝑨?

19. 𝐃𝐄𝐋𝐄𝐓𝐈𝐎𝐍 𝐌𝐔𝐓𝐀𝐓𝐈𝐎𝐍 A deletion mutation involves the removal of one or more nucleotide bases from the DNA sequence. Like insertion mutations, deletions can also cause a shift in the reading frame and result in a different protein product. Mutated DNA strand: GA – TT A - CCT Normal DNA strand: GAT – T T A - CCT

20. 𝐈𝐧𝐝𝐢𝐯𝐢𝐝𝐮𝐚𝐥 𝐀𝐜𝐭𝐢𝐯𝐢𝐭𝐲 Directions: Read the following scenarios and identify the type of point mutation that is occurring in each case. A DNA sequence originally reads: ATG CTA GGC TAC GCA After a mutation, the DNA sequence becomes: ATG CTA GAC TAC GCA SUBSTITUTION

21. 𝐈𝐧𝐝𝐢𝐯𝐢𝐝𝐮𝐚𝐥 𝐀𝐜𝐭𝐢𝐯𝐢𝐭𝐲 Directions: Read the following scenarios and identify the type of point mutation that is occurring in each case. A DNA sequence originally reads: TAC GAT CGA TCG After a mutation, the DNA sequence becomes: TAC GAT CGA TCG T INSERTION

22. 𝐈𝐧𝐝𝐢𝐯𝐢𝐝𝐮𝐚𝐥 𝐀𝐜𝐭𝐢𝐯𝐢𝐭𝐲 Directions: Read the following scenarios and identify the type of point mutation that is occurring in each case. A DNA sequence originally reads: GCA TGA CGT TAC After a mutation, the DNA sequence becomes: GCA TGA CGT TGC SUBSTITUTION

23. 𝐈𝐧𝐝𝐢𝐯𝐢𝐝𝐮𝐚𝐥 𝐀𝐜𝐭𝐢𝐯𝐢𝐭𝐲 Directions: Read the following scenarios and identify the type of point mutation that is occurring in each case. A DNA sequence originally reads: AGT CTA GGC TAC GCA After a mutation, the DNA sequence becomes: AGT CTA GGC TAC GA DELETION

24. 𝐐𝐔𝐈𝐙 Directions: Read the following items and choose the letter of the correct answer.

25. 1. Which of the following is true about DNA mutation? DNA mutation is a process of DNA replication. DNA mutation is a process of DNA repair. DNA mutation is a process of DNA recombination. DNA mutation is a process of genetic alteration in which there is a change in the nucleotide sequence of DNA.

26. 2. Which type of point mutation involves the substitution of one nucleotide base with another? Insertion c. deletion Substitution d. duplication 3. What is the term for mutations that do not result in a change in the amino acid sequence? Silent mutation c. Nonsense mutation Missense mutation d. Frameshift mutation

27. 4. A DNA sequence originally reads: ATG CTA GGC TAC GCA . After a mutation, the DNA sequence becomes: ATG CTA GAC TAC GCA . What type of point mutation occurred? Insertion c. deletion Substitution d. duplication

28. 5. What is the consequence of a frameshift mutation? No change in the amino acid sequence Substitution of one amino acid for another Creation of a premature stop codon Alteration of the reading frame and amino acid sequence

29. DNA Mutation Alterations or Changes in the genetic material Point Mutation Frameshift Mutation Substitution Insertion Deletion Silent Mutation Nonsense Mutation Missense Mutation Occurs when the base sequence of a codon is changed. Occurs when an extra nucleotide base is added to DNA sequence. Involves removal of one or more nucleotide bases from DNA sequence.

30. Original DNA Sequence: TAC - ACC - TTG - GCG - ACG - ACT mRNA Sequence: AUG - UGG - AAC - CGC - UGC - UGA Amino Acid Sequence: MET - TRP - ASN - ARG - CYS - (STOP) Mutated DNA Sequence #1: TAC - ATC - TTG - GCG - ACG - ACT What’s the mRNA sequence? ______________________________ What will be the amino acid sequence? ________________________ Will there likely be effects? ___________ What kind of mutation is this? _____________________________ AUG - UAG - AAC - CGC - UGC - UGA Methionine - Stop YES Substitution - Nonsense Mutation

31. Original DNA Sequence: TAC - ACC - TTG - GCG - ACG - ACT mRNA Sequence: AUG - UGG - AAC - CGC - UGC - UGA Amino Acid Sequence: MET - TRP - ASN - ARG - CYS - (STOP) Mutated DNA Sequence #2: TAC - GAC - CTT - GGC - GAC - GAC T What’s the mRNA sequence? ______________________________ What will be the amino acid sequence? ________________________ Will there likely be effects? ___________ What kind of mutation is this? _____________________________ AUG - CUG - GAA - CCG - CUG - CUG - A METHIONINE - LEUCINE -GLUTAMIC ACID – PROLINE YES INSERTION - FRAME SHIFT

32. Original DNA Sequence: TAC - ACC - TTG - GCG - ACG - ACT mRNA Sequence: AUG - UGG - AAC - CGC - UGC - UGA Amino Acid Sequence: MET - TRP - ASN - ARG - CYS - (STOP) Mutated DNA Sequence #3: TAC - ACC - TTA - GCG - ACG - ACT What’s the mRNA sequence? ______________________________ What will be the amino acid sequence? ________________________ Will there likely be effects? ___________ What kind of mutation is this? _____________________________ AUG - UGG - AAU - CGC - UGC - UGA METHIONINE-TRYPTOPHAN-ASPARAGINE- ARGININE - CYS - (STOP) No Substitution - Silent Mutation

33. Original DNA Sequence: TAC - ACC - TTG - GCG - ACG - ACT mRNA Sequence: AUG - UGG - AAC - CGC - UGC - UGA Amino Acid Sequence: MET - TRP - ASN - ARG - CYS - (STOP) Mutated DNA Sequence #4: TAC - ACC - TTG - GGA - CGA - CT What’s the mRNA sequence? ______________________________ What will be the amino acid sequence? ________________________ Will there likely be effects? ___________ What kind of mutation is this? _____________________________ AUG - UGG - AAC - CCU - GCU - GA METHIONINE-TRYPTOPHAN-ASPARAGINE- PROLINE - ALANINE Yes DELETION – FRAME SHIFT

34. Grade 10 𝐌𝐔𝐓𝐀𝐓𝐈𝐎𝐍 : 𝑨𝒃𝒏𝒐𝒓𝒎𝒂𝒍𝒊𝒕𝒊𝒆𝒔 𝒊𝒏 𝑪𝒉𝒓𝒐𝒎𝒐𝒔𝒐𝒎𝒂𝒍 𝑺𝒕𝒓𝒖𝒄𝒕𝒖𝒓𝒆

35. Chromosomal Mutation Chromosomal mutations involve changes in the number or structure of chromosomes.

36. 𝐖𝐡𝐚𝐭 𝐢𝐬 𝐚 𝐒𝐲𝐧𝐝𝐫𝐨𝐦𝐞? A syndrome is a set of medical signs and symptoms which are correlated with each other and often associated with a particular disease or disorder.

37. 𝐊𝐚𝐫𝐲𝐨𝐭𝐲𝐩𝐢𝐧𝐠 Karyotyping is a test to examine chromosomes in a sample of cells. This test can help identify genetic problems as the cause of a disorder or disease.

38. 𝐂𝐫𝐢-𝐝𝐮-𝐜𝐡𝐚𝐭 𝐒𝐲𝐧𝐝𝐫𝐨𝐦𝐞 𝐃𝐨𝐰𝐧 𝐒𝐲𝐧𝐝𝐫𝐨𝐦𝐞 𝐄𝐝𝐰𝐚𝐫𝐝𝐬 𝐒𝐲𝐧𝐝𝐫𝐨𝐦𝐞

39. 𝐂𝐫𝐢-𝐝𝐮-𝐜𝐡𝐚𝐭 𝐒𝐲𝐧𝐝𝐫𝐨𝐦𝐞 “Cri du chat” is caused by the deletion of part of the short arm of chromosome 5. “Cri du chat” is French, and the condition is so named because affected babies make high-pitched cries that sound like a cat.

40. Down’s syndrome is usually caused by an extra copy of chromosome 21( trisomy 21 ). Characteristics include decreased muscle tone, stockier build, asymmetrical skull, slanting eyes and mild to moderate mental retardation. 𝐃𝐨𝐰𝐧 𝐒𝐲𝐧𝐝𝐫𝐨𝐦𝐞

41. 𝐄𝐝𝐰𝐚𝐫𝐝𝐬 𝐒𝐲𝐧𝐝𝐫𝐨𝐦𝐞 Edwards syndrome, which is the second most common trisomy after Down’s syndrome, is a trisomy of chromosome 18 . Symptoms include mental and motor retardation and numerous congenital anomalies causing serious health problems.

42. 𝐊𝐥𝐢𝐧𝐞𝐟𝐞𝐥𝐭𝐞𝐫 𝐒𝐲𝐧𝐝𝐫𝐨𝐦𝐞 Klinefelter syndrome results from a chromosomal abnormality where males have an extra X chromosome , resulting in a composition of XXY instead of XY. This extra X chromosome leads to various physical and hormonal differences characteristic of the syndrome.

43. 𝐓𝐮𝐫𝐧𝐞𝐫 𝐒𝐲𝐧𝐝𝐫𝐨𝐦𝐞 Turner Syndrome is a genetic disorder that affects females. It occurs when one of the X chromosomes is partially or completely missing . This condition can lead to a variety of physical and developmental abnormalities.

44. 𝐐𝐮𝐢𝐳: 𝐆𝐞𝐧𝐞𝐭𝐢𝐜 𝐃𝐢𝐬𝐨𝐫𝐝𝐞𝐫𝐬 𝐓𝐞𝐬𝐭 𝐲𝐨𝐮𝐫 𝐤𝐧𝐨𝐰𝐥𝐞𝐝𝐠𝐞 𝐚𝐛𝐨𝐮𝐭 𝐠𝐞𝐧𝐞𝐭𝐢𝐜 𝐝𝐢𝐬𝐨𝐫𝐝𝐞𝐫𝐬 𝐰𝐢𝐭𝐡 𝐭𝐡𝐢𝐬 𝐪𝐮𝐢𝐳. 𝐂𝐡𝐨𝐨𝐬𝐞 𝐭𝐡𝐞 𝐜𝐨𝐫𝐫𝐞𝐜𝐭 𝐚𝐧𝐬𝐰𝐞𝐫 𝐟𝐨𝐫 𝐞𝐚𝐜𝐡 𝐪𝐮𝐞𝐬𝐭𝐢𝐨𝐧. 𝐆𝐨𝐨𝐝 𝐥𝐮𝐜𝐤!

45. 1. Which genetic disorder is also known as Down Syndrome? Trisomy 21 c. Cat’s Cry Syndrome Trisomy 18 d. Edwards Syndrome 2. Which genetic disorder is characterized by an extra copy of chromosome 18? Trisomy 21 c. Cat’s Cry Syndrome Trisomy 18 d. Cri du chat syndrome

46. 3. Which genetic disorder is also known as Cat's Cry Syndrome? Edwards Syndrome c. Trisomy 21 Cri-du-chat syndrome d. Trisomy 18 4. Which genetic disorder is characterized by an extra copy of the X chromosome in males? Klinefelter Syndrome c. Trisomy 21 Turner Syndrome d. Trisomy 18

47. 5. Which genetic disorder is characterized by the absence of one X chromosome in females? Klinefelter Syndrome c. Trisomy 21 Turner Syndrome d. Trisomy 18

48. 𝐈𝐧𝐝𝐢𝐯𝐢𝐝𝐮𝐚𝐥 𝐀𝐜𝐭𝐢𝐯𝐢𝐭𝐲 Instructions: Read each scenario and identify the type of mutation that occurs.

49. 1. A DNA sequence originally reads: ATG-CGA-CGC-TAC After a mutation, the DNA sequence reads: ATG-CTA-CGC-TAC 2. A DNA sequence originally reads: TAC-GAT-AGC-CGC After a mutation, the DNA sequence reads: TAC-GAC-AGC-CGC 3. A DNA sequence originally reads: CCG-TAA-GCG-ATT After a mutation, the DNA sequence reads: CCG-TAA-CGA-TT

50. 4 . A DNA sequence originally reads: AGC-TGA-ATG-CGT After a mutation, the DNA sequence reads: AGC-TGA-AAT-GCG-T 5. A DNA sequence originally reads: AAT-GCG-TCC-GAC After a mutation, the DNA sequence reads: AAT-CGC-GTC-CGA-C