Studied by 29 people
On the test expect questions about: - Analyzing the frameshift - A case study (Mutaions like Albinos) - Identifying the change in the mRNA
Definition of Genetic Mutation:
A change in gene structure that can cause a change in an organism.
Gene:
Sequence of DNA bases that codes for a protein.
Mutation Flow:
DNA → mRNA → Protein → Human trait controlled by protein.
Mutagen:
Internal or external factor causing mutation.
Chemical Mutagens:
dioxins, benzene, asbestos, DDT, and cigarette smoke.
Radioactive Mutagens:
UV rays, X-rays.
Other Mutagens:
Trauma, disease.
Frameshift Mutations:
Change the order of DNA nucleotides.
Insertion:
Original: THE BIG DOG BIT TED
Insertion: THE BIG DOG BBI TTE D.
Deletion:
Original: THE BIG DOG BIT TED
Deletion: THE /GD OGB ITT ED
Substitution:
Original: THE BIG DOG BIT TED
Substitution: THE BIG JOG BIT TED.
Sense Mutations:
Change in DNA → Change in mRNA → Change in amino acids.
Silent Mutation:
DNA=ACA→ACG, mRNA=UGU→UGC, AA=Cys → Cys (*amino acid unchanged).
Missense Mutation:
DNA=ACA-ACC, mRNA=UGU→UGG, AA= Cys→ Trp (*different amino acid coded for).
Nonsense Mutation:
DNA=ACA→ACT, mRNA=UGU→UGA, AA=Cys → STOP (*translation stops prematurely).
Sickle Cell Anemia (Missense Mutation):
Valine replaces glutamate in the amino acid chain of hemoglobin.
Normal blood cells replaced by sickle-shaped cells, causing blockages in blood
Translocation:
Switch order of genes between chromosomes.
Inversion:
Genes within one chromosome change order.
Duplication:
Copy genes or even entire chromosomes.
Deletion:
Remove genes or even entire chromosomes.
Down's Syndrome (Duplication):
Extra chromosome #21.
Facial features change, and mental processing is slowed.
Turner's Syndrome (Deletion):
No second chromosome (X or Y).
EX) Single X results in a short, infertile female.
Kleinfelter's Syndrome (Duplication):
3 sex chromosomes - XXY.
EX) Tall male with long limbs, significantly lower IQ, and may be infertile with low sperm count.
Note 
Flashcard (48)