This HIBB presentation provides background information on bases, amino acids, proteins, nucleotides and DNA. The presentation then explains what bioinformatics is, lists some examples, and demonstrates some tools. It demonstrates tools which compare parts of human and chimp genes, and illustrate drug resistance analysis and HIV subtype analysis. It then discusses some ethical and clinical aspects to bioinformatics.

1. A brief Introduction to
Bioinformatics
Y. SINGH
NELSON R. MANDELA SCHOOL OF MEDICINE
DEPARTMENT OF TELEHEALTH
SINGHY@UKZN.AC.ZA
Content licensed under Creative Commons Attribution-Share Alike 3.0
Unported

2. Learning Objectives
 What is Bioinformatics
 Why is it important
 Examples of Bioinformatics application
 What is Sequencing
 Uses of Sequencing

3. Building Blocks of DNA
 Bases are the building blocks of DNA
 DNA uses four different bases:
Adenine, Guanine, Cytosine & Thymine
 Connected by 2’-deoxy-ribose-
phosphate backbone

4. DNA
 Please watch Video One

5. Information in DNA is Transferred to
RNA & into Proteins
 DNA (ACGT on deoxyribose backbone)

 RNA (ACGU on ribose backbone)

 Proteins (amino acids on peptide backbone)

6. Information in RNA Encodes
Proteins
 Triplets of
RNA
nucleotides
encode 20
amino acids
 8 essential
amino acids

7. DNA Mutates
Mutations in DNA (changes in bases) can 
changes in amino acids can  changes in
proteins
Mutations can be:
Inherited: sickle cell disease, cystic fibrosis,
susceptibility to some cancers (BRCA: breast
cancer)
Acquired: some birth defects, leukemia, HIV
resistance

8. Definition
 Bioinformatics :
 applied mathematics,
 informatics,
 statistics,
 computer science,
 artificial intelligence,
 chemistry, biochemistry etc
 to solve biological problems usually on the
molecular level

9. What can Bioinformatics do
 sequence alignment,
 gene finding,
 genome assembly,
 protein structure alignment,
 protein structure prediction,
 predict products of gene expression
 protein-protein interactions,
 the modeling of evolution.

10. What can Bioinformatics do
 sequence alignment,
 gene finding,
 genome assembly,
 protein structure alignment,
 protein structure prediction,
 predict products of gene expression
 protein-protein interactions,
 the modeling of evolution.

11. Sequence Alignment
 Compare genes
within a species
 Search genes
 BLAST

12. Demonstration: Video Two
BIOAFICA:
http://www.bioafrica.net/rega-genotype/html/subtypinghiv.ht
STANFORD HIV-DB: http://hivdb.stanford.edu/

13. FINDING SIMILARITIES
HTTP://WWW.EBI.AC.UK/TOOLS/CLUSTALW2/INDEX.HT
HTTP://WWW.NCBI.NLM.NIH.GOV/SITES/EN
TREZ?DB=PROTEIN&CMD=SEARCH

14. Implications for clinical
informatics
 Sequence information in medical records
 New diagnostic and prognostic information
sources
 Ethical considerations

15. Thank You
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