Topic 3/10 Flashcards
Gene
Heritable factor that consists of a length of DNA and influences a specific characteristic
Locus
Specific position of a gene on the chomosome
Allels
- Various specific forms of a gene
- Occupy the same position on one type of chromosome
- They differ from each other by one or a few bases only
Give examples of multiple allele genes
- Coat colour in mice
- Blood type in human
- Eye colour in fruit flies
Outline the formation of new alleles
- Mutations that resulted in difference of one or a few bases in the sequence
- Developed by evolution over millions of years
Mutations
- Random changes in the base sequence
- Usually neutral or harmful
Explain the cause of sickle-cell anemia
- Mutation of the gene that codes for the alpha-globin polypeptide in hemoglobin (symbol is Hb)
- The sixth codon GAG is changed to GTG due to base subsitution mutation
- New allele is formed (HBS other than the normal HBA)
- The amino acid produced becomes valine instead of glutamic acid
- Causes hemoglobin molecules to stick together in tissues with low oxygen concentration
Outline the danger of sickle cell anemia
- Sickle cells cause damage to tissues by becoming trapped in blood capillaries, blocking them and reducing blood flow
- When sickle cells return to high oxygen conditions in the lung, the bundles break up and return to normal shape
- Both the hemoglobin and the plama membrane are damaged and the life of a red blood cell is shortened
- The body cannot replace red blood cells quick enough and anemia therefore develops
Genome
Whole of the genetic information of an organism
What does the human genome consist of
- 46 moledules that fomr the chromosomes in the nucleus
- DNA molecule in the mitochondrion
Human Genome Project
- Aims to find the base sequence of the entire human genome
- Comparison of the base sequence gives proof to the evolutionary history of species
Compare and contrast the genetic information in prokaryotes and eukaryotes
Similarity
- store genetic information in chromosomes
Difference
- prkaryotes have circular DNA molecule; eukaryotes have linear
- prokaryotes DNA is not associated with proteins (naked); eukaryotes DNA is associated with histones
- prokaryotes DNA is single stranded; eukaryotes DNA is double stranded
- prokaryotes have plamid; eukaryotes don’t
Define plasmids
Small, circular, and naked DNA containing a few genes (ex. antibiotic resistance in bacteria)
- Can be transferred from one cell to another to spread resistence
Outline the use of autoradiography to measure the length of DNA molecules
- Cells are grown with radioactively labelled nucleotides
- Placed in a dialysis membrance and the DNA is released onto the surface of the membrane
- Thin film of photographic emulsion was applied to the membrane and left in darkness
- Radioactive atoms emit high energy electrons and leave a mark on the film
Explain why human chromosome is referred to as 2n
- Homologous chromosomes that carry the same sequence of genes but not necessarily the same alleles
- Inherit one chromosome from each parent
List the following species in order of genome size (largest to smallest) T2 phage (virus), Escherichia coli (bacteria), Drosophila melanogaster (fruit fly), Homo sapiens (human), Paris japonica (plant)
Paris japonica (150,000) Homo sapiens (3000) Drosophila melanogaster (140) Escherichia coli (5) T2 phage (0.18)
Explain the correlation between genome size and complexity of organism
- Positively correlated but not directly proportional
- Proportion of the DNA that acts as functional genes is very variable and also the amount of gene duplication varies
- Plants may have 3n or 4n
Define and give examples of haploid nuclei
- Haploid nuclei have one chromosome of each pair
- One full set of the chromosomes that are found in its species (ex. contains 23 chromosomes in human)
- Represented as n
- Ex) gametes or sex cells that fuse together during sexual reproduction, human egg and sperm cells
Define and give examples of diploid nuclei
- Diploid nuclei have pairs of homologous chromosomes
- Two full sets of the chromosomes (ex. contains 46 chromosomes in human)
- Represented as 2n
- Ex) body cells, nerve cells
Outline the advantages of diploid nuclei
- Effects of harmful recessive mutations can be avoided if a dominant allele is also present
- Organisms are often more vigorous if they have two different allels of genes instead of just one (hybrid vigours)
- Genetic diversity
List the following species in order of diploid chromosome numbers (largest to smallest) Homo sapiens (human), Pan troglodytes (chimpanzee), Canis familiaris (dog), Oryza sativa (rice), Parascaris equorum (horse threadworm)
- Canis familiaris (78)
- Pan troglodytes (48)
- Homo sapiens (46)
- Oryza sativa (24)
- Parascaris equorum (4)
Explain the use of a karyogram
- Shows the chromosomes of an organism in homologous pairs of decreasing length
- Stains are used to make the chromosomes show up during mitosis and a micrograph is taken
- Chromosomes are in homologous pairs, arranged by size (starting with the longest)
What can be identified with a karyogram
- Down syndrome (with an extra chromosome 21)
- Sex (2 X chromosome for female and X+Y chromosome for male)
How many haploid cells does a diploid nucleus produce in meiosis
4
Outline the advantages of sexual reproduction over asexual reproduction
- Meiosis, fertilization result in genetic variation
When does DNA replication occur
- Before meiosis and mitosis
- does NOT occur between the two stages of meiosis (results in the halving of chromosomes)
Explain synapsis in meiosis
- Pairing of homologous chromosomes in the beginning stage of meiosis
- Crossing over occurs
Explain crossing over and the advantages of that
- A junction is created where one chromatid in each of the homologous chromosomes breaks and rejoins with the other chromatid
- Occurs during synapsis
- Connection point between sister chromatids is called chiasmata
- Occurs in random positions with random frequency (genetic variation)
- Allows for combinations of genes
Explain how the random orientation of the homologous chromosomes add to genetic diversity
- The two homologous chromosomes in a bivalent are attached to different poles.
- The pole to which each chromosome is attached depends on the orientation of the chromosomes
- Equal chance for each chromosome to be ended up in either poles
- Orientatio of one pair does not affect the other pair
Name the two procedures used for obtaining cells containing the fetal chromosome for karyotype
- Chroionic villus sampling
- Amniocentesis
Explain amniocentesis
- Passing a needle through the mother’s abdomen wall, using ultrasound to guide
- The needle withdraws a sample of the amniotic fluid containing the fetal chromosome
Explain chroionic villus sampling
- Sampling tools enters the vagina and obtain cells from the chorion (membrane from which placenta develops)
Evaluate amniocentesis and chroionic villus sampling
- Chroionic villus sampling as a higher chance of miscarriage
- It can be done earlier in pregnancy
During meiosis, outline what occurs in Prophase I
- Cell has 2n chromosomes (double chromatid)
- Homologous chromosomes pair (synapsis).
- Crossing over occurs.
During meiosis, outline what occurs in Metaphase I
- Spindle microtubules move homologous pairs to equator of the cell.
- Orientation of paternal and maternal chromosomes on either side of equator is random and independent of other homologous pairs.
During meiosis, outline what occurs in Anaphase I
- Homologous pairs are separated. One chromosome of each pair moves to each pole.
During meiosis, outline what occurs in Telophase I
- Chromosomes uncoil. During interphase that follows, no replication occurs.
- Reduction of chromosome number from diploid to haploid completed.
- Cytokinesis occurs.
During meiosis, outline what occurs in Prophase II
- Chromosomes, which still consist of two chromatids, condense and become visible
During meiosis, outline what occurs in Metaphase II
- Chromosomes line up in the middle and spindle fibres are attached to the centromeres
During meiosis, outline what occurs in Anaphase II
- Centromeres separate and chromatids are moved to opposite poles.