Day 5, Lecture 3 (Aug 26): Identification of Disease-causing genes Flashcards Preview

MCS > Day 5, Lecture 3 (Aug 26): Identification of Disease-causing genes > Flashcards

Flashcards in Day 5, Lecture 3 (Aug 26): Identification of Disease-causing genes Deck (18):
1

Positional cloning 

  • Identification of disease gene without prior knowledge of defective protein 
  • you know the positon of the gene and then pull it out and find it's function 

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Functional Cloning

Identification of disease gene after identification of defective protein (this is the old way, such as how they found hemophilia) 

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How is next generation sequencing different from positional cloning 

  • Becuase you don't have to know where the gene is located you just sequence the entire exome  and find it 

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When genes are far apart on a chromosome than the chance of recombination is 

about 50%. Recombinants will equal non-recombinants 

 

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Next Generation Sequencing (NGS)

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How does ddNTP of Sanger sequencing work

it lacks the -OH group on the 3' end so when it attaches to the DNA seqeunce the coding stops because more nucleotides can't be added to it 

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  • Genetic Heterogeneity
    • Difference in clinical/phenotypic heterogeneity and locus heterogeneity

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Examples of clinical/phenotypic heterogeneity

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Challenges of multifactorial/complex diseases

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This was the way they used to try and find the genetic component for complex/multifactorial diseases

  • From Parametric and non-parementric came the idea of association studies
    • They found some things just by chance so they moved it up to doing it across the genome (GWAS)

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  • The taller the blep the more associated that SNP is with the disease 
  • Even when found the odds ratio are so small that they can't be used clinically
  • also the issue is it a combination of the bleps making the disease or are we even looking in the right place 

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