Storage and retrieval of genetic information Flashcards
DNA
The genetic material of an organism, forming a sequence that can be translated into all the proteins expressed.
Genotype
The complete set of genetic material of an organism, transferred from parents to offspring.
Phenotype
The observable characteristics or traits of an organism, produced by both its genotype and environment.
Structure of nucleic acids
Nucleic acids are comprised of a sugar-phosphate backbone linked by phosphodiester bonds, with each nucleotide containing a nitrogenous base.
Structure of DNA
- double stranded, helical structure
- uses thymine (T)
- no hydroxyl (OH) group
- stable
- high molecular weight
Structure of RNA
- single stranded
- uses uracil
- ribose has a hydroxyl (OH) group at C2
- unstable
- low molecular weight
Complementary base pairing
The process by which genetic information is encoded, allowing DNA to be replicated and RNA to be synthesised. 1 purine and 1 pyramidine are joined by hydrogen bonding (adenine+thymine= 2 H bonds, guanine+cytosine= 3 H bonds).
Non-coding DNA
Less than 5% of the human genome is made up of genes. Non-coding DNA includes gene regulatory sequences, introns and repeating elements.
Gene regulatory sequences
- ‘promoter’ and ‘enhancer’ elements play an important role in gene expression
- can be upstream (5’) or downstream (3’) of a gene
- typically several per gene
- can be ~450kb from a gene
Introns
- intervening segments found within genes, between coding DNA sequences (exons)
- removed from primary RNA by splicing machinery
Repeating elements
- represent ~25% of our DNA
- vary in size from 1.4-6kb
- most common repeats are LINE and SINE families
- likely derived from virus
- can be used to detect polymorphisms in DNA fingerprinting
Semi-conservative replication
One strand of replicated DNA is newly synthesised, while the other is an old copy.
Polarity of DNA
DNA has a 5’ end (carbon attached to triphosphate) and a 3’ end (carbon attached to hydroxyl).
Deoxynucleoside triphosphates
dNTPs are the building blocks for DNA synthesis, and are composed of a ribose sugar, phosphate group and nitrogenous base.
Joining dNTPs
1) Complementary dNTP hydrogen bonds to template strand.
2) Second dNTP lines up next to 3’ end of first dNTP.
3) DNA polymerase joins dNTPs via a covalent bond.