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Mutation and Polymorphism

What mutation affects number of chromosomes in a cell, m/c mutations in humans, and are lethal to fetus? Genome Mutation: Ex Trisomy 21
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)
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)
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)
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)
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.
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.
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
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.
give an example of Single mutation. Sickle cell Anemia
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.
What would we trace thousands of through families to identify location of disease gene? SNPs = Single nucleotide Polymorphism
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
Hardy-Weinberg Law Measures Allele and Genotype Frequencies.
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
Change in allele frequency due to change in small population Genetice Drift
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.
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
Created by: cmuox2000