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Side A
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Side B
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Side A
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Side B
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| 1. |
What is the MOI,and main symptoms in... |
-Autosomal dominant disorder
-generally... |
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11. |
What is the MOI and main symptoms of... |
Autosomal Dominant
Evidence of demyelination... |
2. |
What type of mutation causes Williams syndrome? ... |
Deletion of WBS region causes Williams... |
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12. |
What are the main symptoms of Smith Magenis... |
Micrognathia progressing to prognathia with... |
3. |
What are Genormic disorders caused by and... |
Genomic disorders are due to gross changes... |
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13. |
What is the main symptom on Williams Syndrome? |
Loquacious personality. |
4. |
What is the significance about mutations... |
As more and more variants are discovered... |
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14. |
What causes polydactyly? Holoprosencephaly? |
A mutation of the Sonic Hedgehog (SHH) promoter... |
5. |
What percentage of the genome is conserved?... |
5% of genome is conserved
1.5% of conserved... |
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15. |
Explain lactase persistence |
Normally as mammals develop they gain... |
6. |
How can you tell the difference whether something... |
If all missense mutations yield the same... |
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16. |
What happens if there is a mutation in the... |
There will be no transcription |
7. |
What is the Nonsense-mediated mRNA decay... |
NMD machinery functions in investigating... |
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17. |
Mutations in what protein is associated with... |
Mutations in Type II collagen or associated... |
8. |
What are the differnt types of Osteogenesis... |
Type 1- Mild
Type 2- Perinatal lethal
Type... |
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18. |
What type of mutations are the different... |
Type I OI is due to null mutations, haploinsufficiency
Types... |
9. |
What are the 2 types of severe OI? |
N-terminal substitution whereby there is... |
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19. |
What protein is affected in osteogenesis... |
Osteogenesis imperfecta affects Type 1 collagen.
Mild... |
10. |
What is a dominant-negative mutation? What... |
Dominant-negative mutations result in a mutant... |
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20. |
What is the MOI, gene affected and type of... |
Autosomal dominant (gain of function of FGFR3) ... |
