Mutation and Polymorphism
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| What mutation affects number of chromosomes in a cell, m/c mutations in humans, and are lethal to fetus? | Genome Mutation: Ex Trisomy 21
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| What are 3 categories of Human Mutation? | Genome, Chromosome, and Gene (look at the sheen sheen of the chroms on that human mu-toration bike)
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| What mutation alters the structure of chromosomes, often seen in cancer cells? and how would you Identify this mutation? | Chromosome Mutation: FISH analysis is used to identify this mutation. //Ex: Assoc with Mylegenous Leukemia (My Mutated FISH was identified as Leuk by his structure scales alter to chrome)
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| What mutation is caused by base pair substitutions, insertions and deletions? | Gene Mutation: M/c in practice. /// I wish my m/c patient Gene would mutate, substitute, insert and or delete his self so I can have a change in Gene)
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| Mutations that involve replacing one or more nucleotides in a DNA molecule with other Nucleotide is what? | Nucleotide Substitution: Remember the Nu Slide Substitution dance: slide slide replace your nucleotide with another, then slide slide)
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| Mutational events in which a number of bases are added to or removed from DNA, causes a shift in the codon reading frame is what type of mutation? | Frameshift Mutation: Remember: DNA Farm Dance: Shift, shift, get rid of your sister or add another.
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| What mutation causes the substitution of one amino acid for another in a protein? | Missense Mutation: If your missen an amino you fill the missing amigo with another.
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| Sense Mutations | Mutation in a single nucleotide can change a termination codon into one that codes for and amino acid, producing elongated proteins.// Elongates protein b/c termination codon is changed
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| Nonsense Mutations | Makes protein too short, changes function or makes inactive./// Mutation that changes an amino acid specifying a codon to one of three termination codons.
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| give an example of Single mutation. | Sickle cell Anemia
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| SNP = Single Nucleotide Polymorphism | DNA sequence variations that occur when a signle Nucleotide in a genome sequence is altered.//// Gold standard being used in genomics right now.
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| What would we trace thousands of through families to identify location of disease gene? | SNPs = Single nucleotide Polymorphism
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| What LAW is the study of distribution of genetic variation in populations and how frequencies of genotypes are maintained or change over time? // Eval both genetic and environmental changes | Hardy-Weinberg Law
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| Hardy-Weinberg Law | Measures Allele and Genotype Frequencies.
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| Assumptions of Hardy-Weinberg Law | *Population large enough that there is no errors in measuring allele Freq.// *All Genotypes equally able to reproduce.// * Mating is random.// *No selection against particular genotype// *No migration of Population
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| Change in allele frequency due to change in small population | Genetice Drift
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| Founder effect? | *Sm popu breaks from large popu /// By chance, allele frequency of some rare variants higher represented in small group.// * Rare variant thus increases in freq.
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| Give example and explain Heterozygote advantage. | Sickle Cell Disease: If person is Homozygotic they m/c die from sickle cell disease. If Person Heterozygote they have some Sickle cell characteristics but live. Malaria area's allow Hetero to live b/c stops malaria. People w/o Hetero or w/home die
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Created by:
cmuox2000
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