DNA and Mutations. Mutation Facts #1-5 Write down five facts about mutations as we go through the...
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Transcript of DNA and Mutations. Mutation Facts #1-5 Write down five facts about mutations as we go through the...
![Page 1: DNA and Mutations. Mutation Facts #1-5 Write down five facts about mutations as we go through the following videoclips Video 1 Video 2 – Repair Video.](https://reader035.fdocuments.in/reader035/viewer/2022062322/5697bf7a1a28abf838c82f99/html5/thumbnails/1.jpg)
DNA and Mutations
![Page 2: DNA and Mutations. Mutation Facts #1-5 Write down five facts about mutations as we go through the following videoclips Video 1 Video 2 – Repair Video.](https://reader035.fdocuments.in/reader035/viewer/2022062322/5697bf7a1a28abf838c82f99/html5/thumbnails/2.jpg)
Mutation Facts #1-5 • Write down five facts about mutations as we go
through the following videoclips • Video 1• Video 2 – Repair• Video 3 – Repair• Addition and Deletion Mutations
![Page 3: DNA and Mutations. Mutation Facts #1-5 Write down five facts about mutations as we go through the following videoclips Video 1 Video 2 – Repair Video.](https://reader035.fdocuments.in/reader035/viewer/2022062322/5697bf7a1a28abf838c82f99/html5/thumbnails/3.jpg)
What is a Mutation? • change in the DNA code• Lead to frameshifts – the message is no longer
correctly passed • Protein Outcomes:• 1. changed – different from the original• 2. no change - silent mutations• 3. incomplete - amino acid is changed to a
"stop" codon
![Page 4: DNA and Mutations. Mutation Facts #1-5 Write down five facts about mutations as we go through the following videoclips Video 1 Video 2 – Repair Video.](https://reader035.fdocuments.in/reader035/viewer/2022062322/5697bf7a1a28abf838c82f99/html5/thumbnails/4.jpg)
3 Types of Mutations:• 1. Substitution - one
base for another• Sickle-cell Anemia• GAG into GUG• Valine becomes
glutamic acid
![Page 5: DNA and Mutations. Mutation Facts #1-5 Write down five facts about mutations as we go through the following videoclips Video 1 Video 2 – Repair Video.](https://reader035.fdocuments.in/reader035/viewer/2022062322/5697bf7a1a28abf838c82f99/html5/thumbnails/5.jpg)
• 2. Insertion - extra bases
• Huntington's disease – CAG repeat
• fragile X syndrome – CGG repeat
![Page 6: DNA and Mutations. Mutation Facts #1-5 Write down five facts about mutations as we go through the following videoclips Video 1 Video 2 – Repair Video.](https://reader035.fdocuments.in/reader035/viewer/2022062322/5697bf7a1a28abf838c82f99/html5/thumbnails/6.jpg)
Fragile X syndrome• triplet CGG is repeated
(CGGCGGCGGCGG, etc.).• repeats as few as 5 or as many
as 50 will not cause harm. Even 100 repeats usually cause no harm.
• longer repeats have a tendency to grow longer from one generation to the next (as many as 4000 repeats).
![Page 7: DNA and Mutations. Mutation Facts #1-5 Write down five facts about mutations as we go through the following videoclips Video 1 Video 2 – Repair Video.](https://reader035.fdocuments.in/reader035/viewer/2022062322/5697bf7a1a28abf838c82f99/html5/thumbnails/7.jpg)
• 3. Deletion - a section of DNA is lost, or deleted.
• Duchenne Muscular Dystrophy (DMD)
• DMD gene codes for dystrophin (protein)
• protein holds skeletal muscle cells together - missing in DMD
![Page 8: DNA and Mutations. Mutation Facts #1-5 Write down five facts about mutations as we go through the following videoclips Video 1 Video 2 – Repair Video.](https://reader035.fdocuments.in/reader035/viewer/2022062322/5697bf7a1a28abf838c82f99/html5/thumbnails/8.jpg)
Mutations lead to Genetic Disorders
• One Wrong Letter - Tay Sachs • Finding Cures is Hard - Cystic Fibrosis
![Page 9: DNA and Mutations. Mutation Facts #1-5 Write down five facts about mutations as we go through the following videoclips Video 1 Video 2 – Repair Video.](https://reader035.fdocuments.in/reader035/viewer/2022062322/5697bf7a1a28abf838c82f99/html5/thumbnails/9.jpg)
Chromosome Disorders • Chromosome: Coiled DNA and proteins
![Page 10: DNA and Mutations. Mutation Facts #1-5 Write down five facts about mutations as we go through the following videoclips Video 1 Video 2 – Repair Video.](https://reader035.fdocuments.in/reader035/viewer/2022062322/5697bf7a1a28abf838c82f99/html5/thumbnails/10.jpg)
Chromosome Arrangement
• Called a Karyotype• Receive one from
mom, one from dad, they are homologs
![Page 11: DNA and Mutations. Mutation Facts #1-5 Write down five facts about mutations as we go through the following videoclips Video 1 Video 2 – Repair Video.](https://reader035.fdocuments.in/reader035/viewer/2022062322/5697bf7a1a28abf838c82f99/html5/thumbnails/11.jpg)
Chromosome 21“Trisomy 21’
Down Syndrome
![Page 12: DNA and Mutations. Mutation Facts #1-5 Write down five facts about mutations as we go through the following videoclips Video 1 Video 2 – Repair Video.](https://reader035.fdocuments.in/reader035/viewer/2022062322/5697bf7a1a28abf838c82f99/html5/thumbnails/12.jpg)
Kleinfelter’s syndrome - XXY• Male• Develop some breast
tissue• Little body hair • typically tall• Infertility results - no
sperm
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Turner’s Syndrome – X• No Y means Turner’s
people are female. • no ovaries develop don’t undergo puberty and they are sterile.
• Hormone treatment cures all but the sterility.
• Other symptoms: short stature, webbed skin and low hairline at the neck
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Mutations – good or bad?• Discuss with your lab partner.
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Reflection
1. DNA codes for proteins. If DNA is mutated, how might this cause a disease? (Connect proteins to disease).
2. How is it possible for two identical twins, with identical DNA sequences, have different traits – for instance one gets cancer and one does not.
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What is Epigenetics?
• the study of changes in phenotype (appearance) or gene expression caused by mechanisms other than changes in the DNA