Lecture7,8

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Globin gene defect in humans

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Lecture7,8

  1. 1. Pharmacogenetics Refers to the genetic differences in individuals  Different metabolic pathways  Affecting response to drugs  106,000 deaths in US  Vitamin E helps cure cardiovascular disease in some.Pharmacogenetics VS Pharmacogenomics-Germline mutations -Somatic mutations in tumor celllinesPharmacogenomics:Dihydropyrimidine dehydrogenase (DPD); UDP-glucuronosyltransferase 1-1 UGT1A; thiopurine S-methyltransferase (TPMT); Cytidine deaminase CDA Ref: http://en.wikipedia.org/wiki/Pharmacogenetics
  2. 2. Somatic Cell Genetics Somatic Cell mutations  Cancer  Ageing  Mosaicism PKU: Phenylketonuria hyperphenylalaninemia Most Mutations are recessive
  3. 3. type of mutation mechanism frequency per cell division 1. mistakes in DNA replication ~10-10/basepairpoint mutation 2. DNA damage by chemical ~10-5/gene mutagens (or by radiation) ~0.5/cell and misrepair 1. unequal crossing over 2. misalignment during DNA replicationsubmicroscopic deletion or 3. insertion of mobile included in the aboveinsertion element 4. DNA damage by chemical mutagens (or by radiation) and misrepair 1. unequal crossing overmicroscopically visible 2. DNA damage by chemicaldeletion, translocation or 6 x 10-4 mutagens (or by radiation)inversion and misrepairloss of a whole chromosome missegregation at mitosis 1 in 100
  4. 4. Genetics Of Globin Triplet DisorderRef: http://en.wikipedia.org/wiki/Hemoglobin
  5. 5. Genetics of Haemoglobin triplet disorder  Sickle Cell Anemia:  Mutation in HBBCTC -> CAC; Glutamic acid ->ValineRef:http://en.wikipedia.org/wiki/Sickle-
  6. 6. Prevalence of Sickle Cell AnemiaHeterozygotes have distinct advantages over homozygotes.Selective advantages in case of malaria infection.
  7. 7. Micro ArrayRef: http://en.wikipedia.org/wiki/DNA_microarray
  8. 8. MicroArray Ref: http://www.reproduction-online.org/content/130/1/1/F1.expansion.html
  9. 9. MicroArray http://en.wikipedia.org/wiki/DNA_microarray
  10. 10. MicroArray Bioinformatics1. Experimental Design2. Standardization 1. Background correction 2. Normalization 3. Differential expression Analysis3. Statistical Analysis4. Data Warehousing Probes and Genes
  11. 11. Application of MicroArray Expression Profiling Comparative Genome Hybridization Detecting protein bound region (Chip-Seq) Alternate Splicing Fusion Genes Tiling Array
  12. 12. Physical Map of Chromosome
  13. 13. Genetic Mapping
  14. 14. SSR Loci Micro-satellite markers  Simple sequence Repeats (2-6 nt)  Variable Number of Tandem Repeats (VNTR)(CA)n repeat varies between alleles.Repetitive regions vary in different alleles because of slipped strand mispairing

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