Genetics: Lecture 1 Flashcards
Mitosis, Meiosis, Genetics and Molecular Biology
What is Genetics?
The study of the inheritance of observable traits from one generation to the next,
and their effect on populations and species. It is a much older field of study compared to molecular biology.
Examples include: blue eyes, huntington’s disease, etc
What is Molecular Biology?
The study of the molecular processes
involved in the transfer of genetic information from genotype to phenotype of an organism. It is a fairly new field of study in biology.
Examples include: the study of DNA
Nature vs. Nurture
A debate which helps us learn the limits of what can be explained solely by genetics.
Nature: encoded by genetics. Examples include: blood groups (don’t vary from environmental pressure, fully hard-coded by genetics).
Nurture: comes from environmental factors.
Examples: Acidic soil vs Alkaline soil results in different phenotypes (blue and pink flowers on hydrangeas). Temperature impacts the size of a fruit fly’s wings (lower=smaller) and the colours of a rabbit’s paws/tail/ears (lower=black)
What is Determinism?
It is the idea of how much of your genes actually determine your phenotype.
Example: some things are completely determined by genetics (blood group) while many might be changed/influenced by environment. Most things are not completely determined by genetics.
Genotype determines __________
The range of your phenotype.
What is a phenotype?
An organism’s physical and biochemical traits.
Examples include: flower colour, ear
shape, genetic disease, etc.
What is a genotype?
An organism’s genetic makeup, the genetic information contained in
genes.
Example: the alleles on a specific locus determine your ear shape or eye colour.
DNA structure?
DNA is composed of:
- sugar-phosphate backbone (consists of deoxyribose sugar and phosphate groups) which makes up the “ribbon”
- Nitrogenous bases that form the “rungs” of the ladder (A&T and C&G)
- Hydrogen bonds between nitrogenous bases
- Antiparallel arrangement (double helix)
DNA size?
- we have roughly 3 billion base pairs.
- all of our genetic information is encoded in our DNA.
- DNA is two nm in diameter (one nm in radius).
How is DNA presented?
- DNA is presented as a sequence of nitrogenous bases in a line.
- Only one is given as we can find the matching counterpart of the base pair.
- This is different from what we see on television where it is just chromosomes with very limited info.
Structure of a Eukaryotic Chromosome?
- Each chromosome is one long DNA molecule.
- p (petit) arm and p telomere
- q arm and q telomere
- centromere
- Kinetochore (present at mitosis) interacts with mitotic spindles.
Telomere?
A telomere is present at each end of a chromosome, and prevents the DNA from unravelling.
- The telomere gets shorter with each division. This is associated with aging and is currently being studied.
- We have about 1 metre of DNA in each cell, so it is important that it is packed well.
Centromere?
A constricted region of the chromosome.
- Kinetochores are present at mitosis and interact with spindles.
Giemsa Stain?
The giemsa stain helps us identify concentrated amounts of A-T bonds from concentrated areas of C-G bonds in our chromosomes.
- The bands are NOT genes, there are thousands of genes on a chromosome
- Useful for spotting genetic disorders
Significance of Chromosome structure?
We need the packaged form of DNA to be able to easily split and move it, therefore it is vital that it is condensed into chromosomes.
- it is really long when unravelled.
How do chromosomes look most of the time?
Most of the time chromosomes look like this in the nucleus, but we like to draw them in the condensed, metaphase form because it easier
to visualize.
What are Homologous Chromosomes?
Two chromosomes that are the same size, shape, and contain the same genes. They are NOT identical.
- Small differences present in homologous chromosomes introduce variation into populations.
- Variants of genes are called ALLELES.
- A good analogy is how our textbooks have different editions. Same chapters, same size, same topic/information, different covers and presentation.
What is a Locus?
A specific place along the length of a
chromosome where a given gene
is located
Example: Gene for eye colour in fruit flies
What are alleles?
Alternative versions of the
same gene.
Example: Each chromosome can have a different version of the eye colour gene - red eye allele or white eye allele
When do homologous chromosomes exist?
They exist all the time! They are there in G1 before DNA replication begins.
- Loci and not changing from one form of DNA to another
- In the unduplicated and uncondensed form of DNA, loci can still be located in the nucleus.
Homologous chromosomes vs. Sister Chromatids
Homologous chromosomes are not identical, not attached by a centromere, and are present in G1
Sister chromatids are two strands of DNA with an identical nucleotide sequence. They are directly copied from one another and joined by a centromere to prepare for mitosis. They are NOT present in G1, and only appear when the cell is preparing to divide. This is called a “mitotic chromosome”
What happens during G1?
During G1 the cell is living its life. It eats, grows and sometimes dies. It waits until it is ready to divide, then it makes the decision to go to S phase.
What happens during S phase?
During S phase (synthesis), the cell commits to dividing. Then, the cell begins undergoing DNA replication.
What happens during G2?
During G2, the cell checks for errors in DNA replication. At that point it makes a decision to continue to M phase. It also grows more and generally gets itself ready for M phase to begin.
What happens during M phase?
During M phase, the cell undergoes mitosis. Then, after mitosis, it undergoes cytokinesis.
Cytokinesis is NOT a part of mitosis.
What is G0?
Basically a phase where a cell is unable to divide.
Examples include: liver cells, muscle cells, neurons.
Diploid cells?
Mammalian somatic cells have two sets of homologous chromosomes. These cells are diploid and referred to as having 2n chromosomes.
Haploid cells?
Sex cells (sperm and egg) have just one set of homologous chromosomes. They are haploid and have n chromosomes.
How does a Karyotype work?
Mitosis is stopped in metaphase and the pair of duplicated homologous chromosomes are arranged/identified by using colourful stains which specify very specific genes.
- they are aligned by size
What is a karyotype?
A display of condensed chromosomes arranged in pairs.
Application of a karyotype?
They can be used to identify chromosomal abnormalities (abnormal arrangement, number)
These abnormalities are associated with certain congenital disorders.
Example: Trisomy 21 is the presence of an extra chromosome 21 and is expressed as Down syndrome.