Clear and orderly summary of lecture 1 of Medical Genomics. All lectures match with the book "Medical Genomics in biomedical sciences by Sander Groffen". When you buy all these summaries you are fine and you will pass the exam easily! I pass with a 7,3 :)
vu biomedical sciences free university intro recap medical genomics medical genomics in biomedical sciences by sander groffen biomedical sciences bms bmw
Written for
Vrije Universiteit Amsterdam (VU)
Biomedical Sciences
Medical Genomics (AB_1143)
All documents for this subject (18)
1
review
By: irinazogina • 2 year ago
Seller
Follow
biomedicalsciencesvu
Reviews received
Content preview
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
The benefits of buying summaries with Stuvia:
Guaranteed quality through customer reviews
Stuvia customers have reviewed more than 700,000 summaries. This how you know that you are buying the best documents.
Quick and easy check-out
You can quickly pay through credit card or Stuvia-credit for the summaries. There is no membership needed.
Focus on what matters
Your fellow students write the study notes themselves, which is why the documents are always reliable and up-to-date. This ensures you quickly get to the core!
Frequently asked questions
What do I get when I buy this document?
You get a PDF, available immediately after your purchase. The purchased document is accessible anytime, anywhere and indefinitely through your profile.
Satisfaction guarantee: how does it work?
Our satisfaction guarantee ensures that you always find a study document that suits you well. You fill out a form, and our customer service team takes care of the rest.
Who am I buying these notes from?
Stuvia is a marketplace, so you are not buying this document from us, but from seller biomedicalsciencesvu. Stuvia facilitates payment to the seller.
Will I be stuck with a subscription?
No, you only buy these notes for $3.19. You're not tied to anything after your purchase.
