Genetics Flashcards
What is the study of genetics?
The study of variation between and among living things
GENOTYPE
- What is it dependant on?
- What is the contribution in sexually reproducing organisms?
- Haploid/Diploid
- Entirely dependant on the parent
- Equal contribution from the female and male
- Haploid = One copy of each genetic unit
- Diploid = Two copies of each genetic unit
PHENOTYPE
- What can it be influenced by?
- Is it just physical appearances?
- Can be influenced by both genotypes and the surrounding environment
- Can be biochemical, such as what hormones and enzymes are being produced
- Also the behaviour and personality, i.e. Introvert/Extrovert
VARIATION
- What can determine it?
- Environmental Factors
- Genetic Factors
- Combination of Environmental and Genetic Factors
VARIATION - Environmental
- What is it?
- Examples
- Not influenced by genes but the environment an organism lives in or the lifestyle of them. I.e. Obesity.
- Example: Foetal Alcohol Syndrome (FAS)
- Caused by the consumption of alcohol during pregnancy
- Effects include: Growth retardation, Babies not growing at the same rate as others, Facial features that show signs of abnormality, CNS abnormalities, Intellectual impairment
- Can be selective
- Can also be influenced by: Mothers age, First or later child, What the birth was like, Planned pregnancies, Alcohol metabolism
VARIATION - Genetics
- What is it?
- Example
- Mutation or change in DNA results in variation but this change will not be effected by any environmental conditions
- Example: Huntington’s Disease
- Mutation is unusual and a neurodegenerative disease
- If you have the mutation, you will definitely get the disease
- Mutation caused by a three-based repeat
- We all have a copy of the chromosome (One from mum, one from dad)
VARIATION - Genetics and the Environment
- What is it?
- Example
- The most common form of variation
- Caused by a combination of the environment and genetics
- Example: Drosophila Wings
- Same genotype present on the same gene locus for curly wing in two flies
- One fly is from a hot climate, one from a cold climate
- Effect of the temperature: The environment interacts with the gene for curly wing and effecting the way it is exhibited
What are the phases of the Mitotic Cell Cycle?
- G1 (Longest part of the cell cycle)
- S (Replication of a cell’s DNA)
- G2 (Allows cell time for additional growth and check DNA replication is complete before Mitosis)
- M (Nuclear division occurs)
What are the phases of Mitosis?
Prophase, Metaphase, Anaphase, Telophase
What is Prophase in Mitosis?
- Nuclear envelope breaks up
- Chromatin slowly condenses into chromosomes
- Spindle microtubules assemble
What is Metaphase in Mitosis?
- Chromosomes line up across metaphase plate halfway between the poles
- Each chromosome is held in tension by the kinetic horse and microtubules that attach to opposite sides of the spindle
What is Anaphase in Mitosis?
- Kinetochore microtubules pull two sister chromatids towards opposite poles of the spindle
What is Telophase in Mitosis?
- Separated daughter chromosomes arrive at the poles
* New nuclear envelope forms around each daughter chromosomes
What is Mitosis?
The process of replication of chromosomes of a single cell nucleus being distributed to two daughter nuclei. Each receive an identical, complete set of chromosomes.
What is meiosis?
Cell division that occurs in sexually reproducing organisms which the diploid chromosomes complement is halved (Haploid). Returns to diploid after fertilisation when gametes fuse. Four haploid cells are produced, each having half the chromosome number of the parent cell.
What are the phases of Meiosis?
Prophase I, Metaphase I, Anaphase I, Telophase I, Prophase II, Metaphase II, Anaphase II, Telophase II
What is Prophase I?
- Homologous pair of chromosomes move together an synapse - The centromeres and gene loci are matched evenly
- During synopsis recombination, nodules appear at intervals of bivalent (Nodules = Enzyme complexes that play a role in exchange of pieces of chromatid)
- Depending on the chromosome size, there may be more than one crossing over of bivalent
What is Metaphase I?
- Homologues attached at the chiasmata
- Centromeres repel each other
- Paternal and maternal homologues pull away from each other
What is Anaphase I?
- Synaptonemal complex breaks down
- Kinetochores of sister chromatids behave as one
- Microtubules attach to them and assist in separation of homologues to opposite poles of the spindle
- Homologues remain attached to chiasmata
- Homologous pair of chromosomes separate into different cells at the later stage
- At the end, the two new cells contain only one chromosome of each homologous pair
- Chromosome number has been halved (Haploid); each chromosome still composed of two chromatids
What is Prophase II?
- Nuclear envelopes have reformed
- Chromosomes have condensed
What is Metaphase II?
- Nuclear envelopes have disappeared and chromosomes have lined up across the Metaphase plate with kinetochores of a chromosome facing opposite poles
- Only one member of each homologous pair at this stage in a cell (Chromosome number has already been halved)
What is Anaphase II?
- Kinetochore fibres of sister chromatids point to opposite poles (Kinetochores detach from each other and sister chromatids pull apart to opposite poles and become individual chromosomes)
- Kinetochores detach from each other and sister chromatids pull apart
- Chromatids pull apart and become separate chromosomes
- Each of the four chromosomes are different with respect to the combination of maternal and paternal information
What is a gene?
- Fundamental unit of heredity that carries information from one generation to the next
- Sequence of DNA
What is DNA?
- Double stranded molecule
- It is made up of many nucleotides linked together
What is the structure of a nucleotide?
- Consists of 3 components: Deoxyribose sugar, phosphate group and a Nitrogenous base
What is the bond between the sugar and phosphate group called?
Phosphodiester bond
What is a purine?
- Contains 2 carbon rings
- Adenine
- Guanine
What is a pyridimine?
- Contain only 1 Carbon ring
- Cystine
- Guanine
Where are genes found in Eukaryotes?
- Chromosomes
- Mitochondria
- Chloroplasts
Where are genes found in prokaryotes?
Plasmids
Where are chromosomes found in eukaryotes?
Nucleus
Where are chromosomes found in prokaryotes?
- Cytosol as they do not have a membrane bound nucleus
What is a chromosome?
- Consists of DNA and protein
- DNA is associated with a specialised protein: Nucleosome
- Can be single stranded with one molecule of DNA
- Can be double stranded with two molecules of DNA
- All depends on the stage of the cell cycle
What is a nucleosome made up of?
- Linker DNA
- Histones
- H1
- H2
- H2B
- H3
- H4
What is a linker DNA?
- Wound around the histones H2 - H4
What are the histones H2 - H4?
DNA is wound here
What is the H1 Histone?
- Clamps DNA into position
- Links one nucleosome to the next
What is DNA replication?
Getting from double stranded to single stranded
What is the first stage of DNA replication in E.Coli?
Helicase separates strands of DNA
What direction does the strand open?
3’ to 5’
What is the second stage of DNA replication in E.Coli?
- DNA topoisomerase relieves supercoiling
- Single stranded proteins keep the strands apart
What is the third stage of DNA replication in E.Coli? What strand can only be added to?
DNA polymerase III comes along and builds a double stranded sequence made from RNA (Primer)
- The 3’ strand can only be added to so it is continuously replicated
What is the fourth stage of DNA replication in E.Coli?
Primer comes along
What is the fifth stage of DNA replication in E.Coli?
- Replication occurs 5’ to 3’ on the leading strand
What is the sixth stage of DNA replication in E.Coli?
DNA polymerase II for a new strands 5’ to 3’ on the complementary template