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
Somatic Cell Genetics Somatic Cell mutations Cancer Ageing Mosaicism PKU: Phenylketonuria hyperphenylalaninemia Most Mutations are recessive
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
Genetics Of Globin Triplet DisorderRef: http://en.wikipedia.org/wiki/Hemoglobin
Genetics of Haemoglobin triplet disorder Sickle Cell Anemia: Mutation in HBBCTC -> CAC; Glutamic acid ->ValineRef:http://en.wikipedia.org/wiki/Sickle-
Prevalence of Sickle Cell AnemiaHeterozygotes have distinct advantages over homozygotes.Selective advantages in case of malaria infection.
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