Genetics Unit 6 key terms

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  1. Annotation
    identifying functional parts of the genome and linking them to information regarding its function
  2. Challenges to annotation
    Not all ORF encode exon, not all genes encode protein,
  3. 4 omes
    Transcriptome, transfactome, proteome, epigenome
  4. Transcriptome
    concentration of all the transcripts present
  5. Transfactome
    location of all transcription factors that bind the chromosome
  6. Epigenome
    locations of all DNA modification (cytosine methylation)
  7. Proteome
    concentration of all proteins present
  8. ChIP
    Chromatin Immunoprecipation assay used for transfactome
  9. Alleles (genome definition)
    versions of gene that vary in sequence and usually function
  10. Polymorphism
    any sequence difference between individuals
  11. Quantitative Trait
    large number of different alleles (trait varies continuously
  12. Qualitative Trait
    limited number of phenotype classes (winkled vs smooth)
  13. Genetic causes of QT
    • 1. multiple alleles at 1 locus affecting trait
    • 2. multiple loci affecting trait
  14. Environmental causes of QT
    in utero and after birth environment combined
  15. QTL
    region of DNA linked to or containing QTG
  16. Why use inbred strains for identifying QTL in model organisms
    • 1. Different inbred strains differ for many QT
    • 2. Different inbred strains different @ many molecular polymorphisms throughout genome
  17. Steps in QTL identification
    • 1. Use inbred strains for WT and QT phenotypes
    • 2. Look for QT phenotype and SNPs at thousands of loci via whole genome sequencing
  18. Reasons why QT mutant might not follow QT trend
    • 1. Recombination between marker and linked QTl
    • 2. multiple QTLs and not just one that affect QT
  19. Steps to identifying QTG from QTL
    • 1. Compare QTL sequences in affected and unaffected offspring
    • 2. Then identify any significant alleles differences in region linked to polymorphism
  20. How to narrow QTL region
    test panel of genome tagged strains (GTS) for trait. GTS have small regions where one strain is in the background of another
  21. Final step in QTG identification
    Use reverse genetics to replace or knockout candidate gene (make transgenic mouse)
  22. GWAS step one
    Check a lot of SNPs in a lot of individuals with/without trait to find certain SNPs that are associated with trait more often than random
  23. Advantages of GWAS
    • 1. have smaller QTL because individuals are unrelatedĀ 
    • 2. can look directly at human QT disease rather than using MO
  24. GWAS disadvantages
    • 1. most alleles are common and have slight effect on disease risk
    • 2.identifying QTG from QTL is harder, and has to involve MO studies
  25. Population
    any group of same species that inhabits defined area
  26. Population Genetics
    Study of changes of allele frequency over time and their causes
  27. Allele (pop gen definition)
    any genetic change between individuals whether functional or not
  28. HW Equilibrium
    occurs when allele frequency doesn't change over time
  29. 5 forces affecting allele frequency
    • 1. mutations
    • 2. gene flow and founder effect
    • 3. non-random mating
    • 4. random genetic drift
    • 5. selection
  30. Mutations
    • 1. source of new alleles but do not change frequency of existing alleles
    • 2. have very low frequency depending on species
  31. Gene flow
  32. Founder effect
  33. Non-random mating
    + and - assortative mating, inbreeding, and population structure
  34. Random genetic drift
    • random variations in allele frequency over generations. major effect is when low frequency allele drifts to 0 (fixed),
    • Smaller populations drift more
  35. Selection
    • increase or decrease allele frequency and/or allele variation
    • occur if different alleles confer different fitness
Card Set:
Genetics Unit 6 key terms
2017-05-07 22:36:47

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