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44 Cards in this Set
- Front
- Back
Fundamentals of Generics |
1 describing and characterizing variation (phenotype) 2 understanding the reason the three variation (genotype) 3 making use of variation due improvement (selection) |
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Trait |
Observable or measurable characteristics |
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Phenotype |
Specific form of a trait |
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Genotype |
Genetic makeup is an individual which helps determine phenotype |
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Basic premise |
Phenotypic variation (describe variation observed) > genotypic variation (understand basis of variation) > selection (make changes towards a particular variant) |
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Continuous variation |
Quantitative Bell curve |
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Discontinuous variation |
Qualitative Bar graph |
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Genetic model |
Phenotype = genotype +environment Changes in phenotype lead to changes in the other side of the equation |
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Gene |
Specific locus on the genome/chromosome/DNA Basic unit of inheritance |
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Allele |
Alternative forum of a gene |
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Mendel's Laws |
1 dominance = expression of 1 allele masks the other (mode of inheritance = dominant or recessive) 2 segregation = 50% if a individual's genotype is transmitted to offspring 3 independent assortment = inheritance of one locus does not impact another |
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Exceptions to Mendel's Laws |
Sex - linked = gene is on sex chromosome (usually only males exhibit assorted phenotype Sex - limited = expression in only 1 gender (usually females) Sex - influenced = expression is different i in males VS females |
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Why Twilight? |
Female (2x chromosomes l High homozygosity (low variation) Made putting genome together simpler |
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Genome sequence |
Segregate genome to learn about variation |
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Sequence variations |
Single nucleotide polymorphisms (snps) Microsatellites Copy number variations (cnvs) Insertions/deletions (INDELs) |
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Categories of information |
Protein coding genes Non - coding genes Regulatory sequence All are units of inheritance |
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Central Dogma |
Flow of information |
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Relationship of the categories of information |
Regulatory sequences > protein coding genes and non - coding genes > Proteins |
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Annotation |
Giving meaning/definition to the rule of each base pair in the genome sequence |
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Protein coding genes |
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Exon |
DNA sequence coding for protein (defines allele sequence) Transcribed |
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Intron |
DNA sequence between exon in the genome, Transcribed with the exons and then spliced out Can regulate which exons are used in the final MRNA |
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UTR |
Untranslated regions - Transcribed with exons and introns Help determine/regulate translation into MRNA into protein |
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Promoter |
Regulatory sequence that controls mutation of transcription |
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Response element |
Regulatory sequence Helps determine which promotors are used |
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Regulatory element |
Regulatory sequence Five five level of transcription |
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Central Dogma Jim Action |
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How does variation enter population? |
1 mutation - change in DNA sequence (make a new individual) 2 migration - new variants come in form of new individuals from another population |
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How is new variation maintained? |
Must be beneficial (or at least not harmful) |
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Impact of exon on phenotype |
Protein change that yields phenotype change Point mutation - nonsense (new stop), missense (different alleles), silent (DNA change only) Frameshift - nonsense, missense |
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Impact of intron on phenotype |
Can alter which exons are included or excluded from mature MRNA Point mutations, INDELs |
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Impact for UTR on phenotype |
Might change where MRNA is set for translation, the rate it takes translation to reach it, and how long translation takes Point mutations or INDELs |
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Promotor influence on phenotypic variation |
Can influence rate or presence even of transcription Point mutations, INDELs |
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Response elements phenotypic variation |
Can alter which promotors are used for transcription Can influence if a gene is transcribed Point mutations INDELs |
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Regulatory sequences influence on phenotypic variation |
Can alter level of transcriotion Can alter genes that are regulated Point mutations, INDELs |
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Degree of impact for phenotypic variation |
High to low Exons - direct impact on amino acids in Proteins Introns/UTR - impact regulation of translation, CAN alter amino acids used in proteins Promoter - is the gene Transcribed? Response element - is the gene Transcribed? Regulatory sequences - what level is the gene expressed |
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Impact on protein sequence |
A) nonsense mutations - new stop codon B) missense mutations - change in mini acid sequence neutral mutations are a type of missense C) silent mutations - DNA changes, amino acid sequence does not |
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Impact of protein function |
A) gain of function B) loss of function C) regulation of function |
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Location of protein function |
A) inside the cell B) outside the cell C) in cell membrane |
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Why are there relatively few dominant disorders? |
Dominant alleles ALWAYS impact fitness = death, no chance of living long enough to pass it on |
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Common features of HYPP, PSSM1, MH |
All affect muscle physiology All result from missense mutations |
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Why are missense more common |
Not more than silent, but more than nonsene |
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What if HYPP was nonsense |
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Why did we only talk about mutations in exons |
Most dramatic impact Most likely to impact phenotype |