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Biochemistry- Unit One
Medical Genomics (T Pierce)
12
Medical
Post-Graduate
02/04/2009

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Cards

Term
How can you read DNA?
Definition
  1. sequence it, letter by letter
  2. by cutting it with enzyme the recognize only certain letters
  3. hybridize to something that is known
Term
Basic process of genome sequencing
Definition
  1. break DNA into random fragments
  2. sequence the ends of fragments
  3. assemble sequenced ends
Term

Dimensions molecular genetics looks at

Definition
  • acquired vs. heritable events
  • monogenic vs. polygenic
  • homozygous vs. heterozygous
Term
define duplication
Definition

recombinatino leading to multiple alleles

Term
Define rearrangement
Definition

recombination leading to activation/repression

Term
define polymorphism
Definition
an "acceptable" variant of sequence
Term
Explain genetic two hit model and give an example
Definition
  • reduce fidelity in catching mutations by mutation in DNA repail enzyme
  • accelerated growth and reduced apoptosis by mutation in growth suppressor

Colon cancer

  • mutate MSH3 (DNA repair)
  • mutate type II TGF-beta receptor
Term
Goals of genomic medicine
Definition
  • diagnosis of disease
    • high risk individuals IDed for monitoring
    • single disease separatred into different genetic causes
  • predict drug responses
    • genetic tests allow drugs with low risk side effects
  • ID new targets for drug therapy
    • compare normal vs. disease tissue ID cause
Term
Areas of pharmogenomics where people vary
Definition
  • drug uptake
  • drug efflux
  • drug metabolism
  • drug targets
Term
Describe the difference between genetics and genomics.
Definition
  • genetics- study of inheritance of traits
  • genomics- "massively parallel genetics;" the way the genes interact with each other
Term

How are microarray's used at the mRNA level? What is the disadvantage of using genome scale detection of mRNA level or genome wide SNP/haplotype testing?

Definition
  • microarray uses mRNA transcripts to ID target areas, look for changes in levels of transcripts to see if gene is in play, then we go up and down- example if p53 differs in two conditions, go to DNA level and look for polymorphisms and go to protein level and see if protein is phosphorylated.
  • If you use genome to detect mRNA level, you can read the RNA, but you dont know what part is translated and what is spliced out
  • if you use genome wide SNP/haplotype testing, you will get a lot of variations, but not all of those variations code for disease pathologies
Term
Different types of genetic events
Definition
  • mutation
  • polymorphism
  • duplication
  • rearrangement
  • loss of heterozygosity
  • epigenetic changes
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