Topics covered in this study guide:
• Intricacies of DNA replication
• The role of telomeres and telomerase
• Describe mechanisms of DNA repair & what happens if they are defective.
Topics covered in this study guide:
• The importance of genetics and genomics in health and disease
• Functional and Structural DNA Organisation
• Human Genome
• Conceptual view of DNA packaging + hierarchal organisation of DNA
• The Organisation of Genes
• Emerging principles of genomic and personalized medicine
Pictures are pretty good quality, so just zoom in to see them, they’re really useful.
I would also highly recommend watching the short videos attached to get a better understanding of the concepts discussed.
Preview
“Remember, you are braver than you believe, stronger than you seem, and smarter than you think”
Winnie the Pooh
1| DNA & Genes: a study guide @barbstudy
, The importance of genetics and genomics in health and disease
Scientists in genetics
Gregory Mendel determined the inheritance of genetic characteristics using pea plant. His experiments also
revealed dominant and recessive genes.
Investigations were done to do which structures formed the inherited material, and the structure was:
• Carbohydrates
• Proteins
• Lipids
• Nucleic Acids (DNA and RNA)
Phoebus Levene discovered that DNA is a chain of nucleotides.
Watson, Crick, Wilkins and Franklin deduced that DNA was a
double helix structure. This also proved that information could be
duplicated during cell division.
Erwin Chargaff discovered that bases were paired. (always A with T and C with G) and the pairs existed in
different ratios.
Functional and Structural DNA Organisation
• DNA is a molecule running from the 5 prime (written as 5’) end
to the 3’ end. Therefore, the two stands are ANTIPARALLEL.
• 3 structures forming DNA: a five-carbon sugar, a phosphate
group, nucleotide bases.
• DNA is coiled into chromosome (46 chromosomes in a cell).
• Nucleotides are added to the 3’ end.
• RNA vs DNA: Thymine replaced with Uracil.
• Pairing:
o Guanine always pairs with Cytosine
o Adenine always pairs with Thymine (unless RNA)
• The more hydrogen bonds formed, the stronger the structure becomes.
Pair Number of Explanation for Number of bonds Explanation
rings number of rings
G&C DOUBLE rings This makes sure the THREE hydrogen Simply because the
(contributes distance between the bonds bases line up with
more) two strands forming the each other in a way
double strand is
A&T SINGLE rings TWO hydrogen that facilitates these
maintained
Bonds bonds.
Anatomical Structure of DNA: carries the chemical information that allows the exact transmission of
genetic information from one cell to its daughter cells and from one generation to the next.
Primary Structure of DNA: specifies the amino acid sequences of the polypeptide chains of proteins
2| DNA & Genes: a study guide @barbstudy
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