PharmacogeneticsRefers to the genetic differences in individuals

Different metabolic pathwaysAffecting response to drugs106,000 deaths in USVitamin E helps cure cardiovascular disease in some.

Pharmacogenetics VS Pharmacogenomics

-Germline mutations -Somatic mutations in tumor cell linesPharmacogenomics:Dihydropyrimidine dehydrogenase (DPD); UDP-glucuronosyltransferase 1-1 UGT1A; thiopurine S-methyltransferase (TPMT); Cytidine deaminase CDA

Ref: http://en.wikipedia.org/wiki/Pharmacogenetics

Somatic Cell GeneticsSomatic Cell mutations

CancerAgeingMosaicism

PKU: PhenylketonuriahyperphenylalaninemiaMost Mutations are recessive

type of mutation mechanism frequency per cell division

point mutation

1. mistakes in DNA replication2. DNA damage by chemical mutagens (or by radiation) and misrepair

~10-10/basepair~10-5/gene~0.5/cell

submicroscopic deletion or insertion

1. unequal crossing over2. misalignment during DNA replication3. insertion of mobile element4. DNA damage by chemical mutagens (or by radiation) and misrepair

included in the above

microscopically visible deletion, translocation or inversion

1. unequal crossing over2. DNA damage by chemical mutagens (or by radiation) and misrepair

6 x 10-4

loss of a whole chromosome missegregation at mitosis 1 in 100

Genetics Of Globin Triplet Disorder

Ref: http://en.wikipedia.org/wiki/Hemoglobin

Genetics of Haemoglobin triplet disorderSickle Cell Anemia:

Mutation in HBB

Ref: http://en.wikipedia.org/wiki/Sickle-cell_disease

CTC -> CAC; Glutamic acid -> Valine

Prevalence of Sickle Cell Anemia

Heterozygotes have distinct advantages over homozygotes.

Selective advantages in case of malaria infection.

Micro Array

Ref: http://en.wikipedia.org/wiki/DNA_microarray

MicroArray

Ref: http://www.reproduction-online.org/content/130/1/1/F1.expansion.html

MicroArray

http://en.wikipedia.org/wiki/DNA_microarray

MicroArray

Bioinformatics

1. Experimental Design2. Standardization

1. Background correction2. Normalization3. Differential expression

Analysis3. Statistical Analysis4. Data Warehousing

Probes and Genes

Application of MicroArrayExpression ProfilingComparative Genome HybridizationDetecting protein bound region (Chip-Seq)Alternate SplicingFusion GenesTiling Array

Physical Map of Chromosome

Genetic Mapping

SSR LociMicro-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