Medical Genomics – Lecture 1a – Intro
Genomics; study of the entire genome, not limited to the human genome
Medical genomics; aspects of genomics with relevance for applications in
medicine/health care
Application of genomics in medicine;
• Disease treatment (pharmacology, gene therapy, stem cell therapy)
• Genetic counselling (in family risk for disease, have a baby?)
• Study disease pathology
Goals of genomics;
1. Predict biological information from DNA sequences
2. Understand protein function and dysfunction
3. Construct metabolic maps for the cell and understand its physiology
4. Get fundamental insight in adaptive responses of cells in response to changes
in their environment
Human genome; 23x2 chromosomes, 3 x 10^9 nucleotide pairs
Nurture; determined by the environment
Nature; genetic determination
Organisms with genome size which lies close together are related to each other.
Gene targeting
• Wildtype allele
• Null allele → knock out the gene
• Mutant allele → knock in the gene
• Floxed allele → conditional knock-out the gene
Forward genetics; select the phenotype → find the gene
Reverse genetics; select a gene → find the phenotype
, Medical genomics – Lecture 1b – Recap
Chemistry of the genome
DNA
4 bases;
• Purines
o Adenine (2 hydrogenbond)
o Guanine (3 hydrogenbond)
• Pyrimidines
o Cytosine (3 hydrogenbond)
o Thymine (2 hydrogenbond)
o Uracil (only in RNA)
Base = base (Adenine)
Base + sugar = nucleoside (Adenosine, cytidine,
guanosine, thymidine)
Base + sugar + phosphate = nucleotide (AMP, ADP, ATP)
1’ base
2’ H
3’ OH (hydroxyl group)
4’ H
5’ phosphate group
5’ end = phosphate (phosphate group)
3’ end = sugar (hydroxyl group)
From 5’ → 3’
The double helix
2 chains running in opposite direction.
A-T and G-C base pairs is complementary.
This complementary base pairing makes DNA a suitable molecule for carrying our
genetic information. One template that copied the DNA readily and passes on to the
next generation.
RNA
RNA has U instead of T
RNA has at 2’ OH instead of H
RNA is mostly a single-stranded molecule.
From DNA to RNA to Proteins
Transcription; process from DNA to RNA
3 forms of RNA
• mRNA; encode proteins based on their nucleotide sequence
• rRNA; structural component of ribosomes that form the protein translation
machinery
• tRNA; couple the encoded amino acid to the protein that is being synthesized
Genomics; study of the entire genome, not limited to the human genome
Medical genomics; aspects of genomics with relevance for applications in
medicine/health care
Application of genomics in medicine;
• Disease treatment (pharmacology, gene therapy, stem cell therapy)
• Genetic counselling (in family risk for disease, have a baby?)
• Study disease pathology
Goals of genomics;
1. Predict biological information from DNA sequences
2. Understand protein function and dysfunction
3. Construct metabolic maps for the cell and understand its physiology
4. Get fundamental insight in adaptive responses of cells in response to changes
in their environment
Human genome; 23x2 chromosomes, 3 x 10^9 nucleotide pairs
Nurture; determined by the environment
Nature; genetic determination
Organisms with genome size which lies close together are related to each other.
Gene targeting
• Wildtype allele
• Null allele → knock out the gene
• Mutant allele → knock in the gene
• Floxed allele → conditional knock-out the gene
Forward genetics; select the phenotype → find the gene
Reverse genetics; select a gene → find the phenotype
, Medical genomics – Lecture 1b – Recap
Chemistry of the genome
DNA
4 bases;
• Purines
o Adenine (2 hydrogenbond)
o Guanine (3 hydrogenbond)
• Pyrimidines
o Cytosine (3 hydrogenbond)
o Thymine (2 hydrogenbond)
o Uracil (only in RNA)
Base = base (Adenine)
Base + sugar = nucleoside (Adenosine, cytidine,
guanosine, thymidine)
Base + sugar + phosphate = nucleotide (AMP, ADP, ATP)
1’ base
2’ H
3’ OH (hydroxyl group)
4’ H
5’ phosphate group
5’ end = phosphate (phosphate group)
3’ end = sugar (hydroxyl group)
From 5’ → 3’
The double helix
2 chains running in opposite direction.
A-T and G-C base pairs is complementary.
This complementary base pairing makes DNA a suitable molecule for carrying our
genetic information. One template that copied the DNA readily and passes on to the
next generation.
RNA
RNA has U instead of T
RNA has at 2’ OH instead of H
RNA is mostly a single-stranded molecule.
From DNA to RNA to Proteins
Transcription; process from DNA to RNA
3 forms of RNA
• mRNA; encode proteins based on their nucleotide sequence
• rRNA; structural component of ribosomes that form the protein translation
machinery
• tRNA; couple the encoded amino acid to the protein that is being synthesized
