3.2 Chromosomes
∑ Understandings:
∑ - Prokaryotes have one chromosome consisting of a circular DNA molecule.
http://dtc.pima.edu/blc/182/lesson4/prokaryotes/prokaryotespage1.htm
∑ - Some prokaryotes also have plasmids but eukaryotes do not.
Bacteria Resistance Video: https://www.youtube.com/watch?v=plVk4NVIUh8&feature=emb_logo
Applications and skills:
β - Application: Cairns’ technique for measuring the length of DNA molecules by autoradiography.
http://www.eplantscience.com/index/genetics/chemistry_of_the_gene_synthesis_modification_and_repair_of_dna/semiconservative_dna_replication_in_e_coli.php
∑ - Eukaryote chromosomes are linear DNA molecules associated with histone proteins.
∑ - In a eukaryote species there are different chromosomes that carry different genes.
∑ - Homologous chromosomes carry the same sequence of genes but not necessarily the same alleles of those genes.
Do the data-based questions on page 153 on comparing the chromosomes of mice and humans
β - Application: Comparison of genome size in T2 phage, Escherichia coli,
Drosophila melanogaster, Homo sapiens and Paris japonica.
T2 Phage | ||
E. coli | ||
D. melanogaster | ||
H. sapiens | ||
P. japonica |
B - Use of online databases to identify the locus of a human gene and its protein product.
http://www.ncbi.nlm.nih.gov/gene/?term=drd4
Gene | Description | Location |
DRD4 | ||
CFTR | ||
HBB |
| |
F8 | ||
TDF | ||
∑ - Diploid nuclei have pairs of homologous chromosomes.
∑ - Haploid nuclei have one chromosome of each pair.
∑ - The number of chromosomes is a characteristic feature of members of a species.
∑ - A karyogram shows the chromosomes of an organism in homologous pairs of decreasing length.
∑- Sex is determined by sex chromosomes and autosomes are chromosomes that do not determine sex.
X and Y Chromosome
http://blogs.ucl.ac.uk/clinical-molecular-genetics/files/2014/05/chromosome_sem.jpg
3.5 Genetic Modification and Biotechnology
Understandings:
∑ - Gel electrophoresis is used to separate proteins or fragments of DNA according to size.
Good links for gel electrophoresis:
https://www.youtube.com/watch?v=ZDZUAleWX78
https://www.youtube.com/watch?v=GUXKQBknYQo
∑ - PCR can be used to amplify small amounts of DNA.
Link for PCR: https://www.youtube.com/watch?v=2KoLnIwoZKU
***Do data-based questions on page 188***
∑ - DNA profiling involves the comparison of DNA.
β - Application: Use of DNA profiling in paternity and forensic investigations.
β - Skill: Analysis of examples of DNA profiles.
Steps to identifying an unknown individual
∑ - Genetic modification is carried out by gene transfer between species.
β - Application: Gene transfer to bacteria using plasmids makes use of restriction endonucleases and DNA ligase.
A couple of links on Gene Therapy https://www.youtube.com/watch?v=xOQFJJOBGM0
Transgenic DNA: https://www.youtube.com/watch?v=DIM38NlkWEo
Insulin: https://www.youtube.com/watch?v=glt8iAqK8NQ
Good explanation: https://www.youtube.com/watch?v=BK12dQq4sJw
Nature of science:
Assessing risks associated with scientific research—scientists attempt to assess the risks associated with genetically modified crops or livestock. (4.8)
Read the short paragraph on assessing the risks of genetically modified crops or livestock on page 192. Write a very brief summary below
Gene Modification (GMO) - https://www.youtube.com/watch?v=8PmM6SUn7Es
Genetic Technology - CRISPR - https://www.youtube.com/watch?v=jAhjPd4uNFY
β - Application: Assessment of the potential risks and benefits associated with genetic modification of crops.
Benefits | Possible Harmful Effects |
Higher crop yield (more production = more money) - crop yield is a debatable benefit | Long term effects on humans are unknown |
Less or no pesticides are used because already resistant to harmful pests | Cross-pollination could occur when seeds from the GM crop pollinate neighbouring farmers’ crops which are made from locally adapted seeds that have adapted over time to the specific microclimates, soils, other environmental conditions. |
Can use pest-resistant crops or modified crops in areas where water availability is limited | Cross-pollination could occur with wild species giving them a competitive advantage. This could allow these plants to outcompete and eliminate other plants (decrease biodiversity). |
Could add genes for certain proteins, vitamins or possible vaccines (less cost than producing in a lab) | Patent protection is given to companies that develop new types of seeds using genetic engineering. Since companies own intellectual ownership of their seeds, they have the power to dictate the terms and conditions of their patented product. They could charge large amounts of money for seeds and the people that need them the most in the 3rd world countries, couldn’t afford to grow these crops. |
Crops last longer or don’t spoil during storage | Crops that produce toxins to kill insects (pest resistant) could be harmful to humans. |
Varieties of crops lacking certain allergens or toxins | Some people or livestock might have allergic reactions to certain proteins produced by transferred genes |
Use of GMO crops that contain a toxin to kill a pest can lead to resistance to the toxin in the target pest and secondary pests that are resistant to the toxin but were previously scarce |
β - Skill: Analysis of data on risks to monarch butterflies of Bt crops.
http://www.inspection.gc.ca/plants/plants-with-novel-traits/general-public/monarch-butterflies/eng/1338140112942/1338140224895
http://cls.casa.colostate.edu/transgeniccrops/hotmonarch.html
http://www.ars.usda.gov/is/br/btcorn/
***Data-Based question page 195***
∑ - Clones are groups of genetically identical organisms, derived from a single original parent cell.
∑ - Many plant species and some animal species have natural methods of cloning.
www.a2biology101.wordpress.com
Strawberry plant
β - Skill: Design of an experiment to assess one factor affecting the rooting of stem-cuttings.
***Design your own experiment to investigate a factor that affects the rooting of stem-cuttings. The lab will be graded according to the IB internal assessment rubric***
∑ - Animals can be cloned at the embryo stage by breaking up the embryo into more than one group of cells.
∑ - Methods have been developed for cloning adult animals using differentiated cells.
∑ - Application: Production of cloned embryos produced by somatic-cell nuclear transfer.
Reproductive Cloning – Method used to create Dolly (first cloned sheep)
Guidance:
• Students should be able to deduce whether or not a man could be the father of a child from the pattern of bands on a DNA profile.
• Dolly can be used as an example of somatic-cell transfer.
• A plant species should be chosen for rooting experiments that form roots readily in water or a solid medium.
Topic 3: Genetics
3.1 Genes
∑ Understandings:
∑ - A gene is a heritable factor that consists of a length of DNA and influences a specific characteristic.
How many genes do other organisms have?
chromosomes --diploid | base pairs | genome size (#genes) | Reference | |
fruit fly | 8 | 1.65x108 | 13,600 | ref |
Budding yeast | 16 | 12,462,637 | 6,275 | ref |
human | 46 | 3.3 x 10 | ~21,000 | ref |
human mitochondria | 16,569 | 13 | ref | |
rice | 24 | 4.66 x 108 | 46,022 -55,615 | ref |
dog | 78 | 2.4 x 109 | ~25,000 | ref |
mouse | 40 | 3.4 x 109 | ~23,000 | ref |
http://www.edinformatics.com/math_science/human_genome.htm
∑ - A gene occupies a specific position on a chromosome.
Example of human chromosome 7 from http://users.rcn.com/jkimball.ma.ultranet/BiologyPages/C/Chromo7.gif
Link on Blood Doping with EPO - https://www.youtube.com/watch?v=G7KZxIR1t-o
∑ - The various specific forms of a gene are alleles.
∑ - Alleles differ from each other by one or only a few bases.
β - Application: Comparison of the number of genes in humans with other species.
chromosomes --diploid | base pairs | genome size (#genes) | Reference | |
fruit fly | 8 | 1.65x108 | 13,600 | ref |
Budding yeast | 16 | 12,462,637 | 6,275 | ref |
human | 46 | 3.3 x 10 | ~21,000 | ref |
human mitochondria | 16,569 | 13 | ref | |
rice | 24 | 4.66 x 108 | 46,022 -55,615 | ref |
dog | 78 | 2.4 x 109 | ~25,000 | ref |
mouse | 40 | 3.4 x 109 | ~23,000 | ref |
http://www.edinformatics.com/math_science/human_genome.htm
B - Skill: Use of a database to determine differences in the base sequence of a gene in two species.
Go to http://www.ncbi.nlm.nih.gov/ and follow the procedure of comparing two gene sequences in your textbook on page 144.
Do that data-based questions on page 145
∑ - New alleles are formed by mutation.
Applications and skills:
β - Application: The causes of sickle cell anemia, including a base substitution mutation, a change to the base sequence of mRNA transcribed from it and a change to the sequence of a polypeptide in hemoglobin.
Good link on malaria and sickle cell anemia in Africa
https://www.youtube.com/watch?v=1fN7rOwDyMQ
∑ - The genome is the whole of the genetic information of an organism.
∑ - The entire base sequence of human genes was sequenced in the Human Genome Project.
What they found: Most of the genome does not code for proteins (originally labelled “junk DNA”). Some of these regions consist of areas that can affect gene expression or are highly repetitive sequences called satellite DNA.
Scientists can now also predict which sequences do code for protein (approximately 21000-23000 sequences)
A complete description of the Human genome project can be found at http://www.genome.gov/10001772
Notes from the IBO
Guidance:
• Students should be able to recall one specific base substitution that causes glutamic acid to be substituted by valine as the sixth amino acid in the hemoglobin polypeptide.
• The number of genes in a species should not be referred to as genome size as this term is used for the total amount of DNA. At least one plant and one bacterium should be included in the comparison and at least one species with more genes and one with fewer genes than a human.
• The Genbank® database can be used to search for DNA base sequences. The cytochrome C gene sequence is available for many different organisms and is of particular interest because of its use in reclassifying organisms into three domains.
• Deletions, insertions and frameshift mutations do not need to be included
International Baccalaureate Organization 2014
3.3 Meiosis
Essential idea: Alleles segregate during meiosis allowing new combinations to be formed by the fusion of gametes.
∑ - Understandings:
∑ - One diploid nucleus divides by meiosis to produce four haploid nuclei.
∑ - The halving of the chromosome number allows a sexual life cycle with the fusion of gametes.
Do data-based question on page 161.
∑ - DNA is replicated before meiosis so that all chromosomes consist of two sister chromatids.
Chromosomes are replicated in the synthesis (S) phase during interphase
This means that each chromosome will have an attached identical copy before meiosis occurs
These are called sister chromatids
www.zo.utexas.edu
∑ - The early stages of meiosis involve the pairing of homologous chromosomes and crossing over followed by condensation.
∑ - Orientation of pairs of homologous chromosomes prior to separation is random.
∑ - Separation of pairs of homologous chromosomes in the first division of meiosis halves the chromosome number.
β - Applications and skills:
β - Application: Description of methods used to obtain cells for karyotype analysis e.g. chorionic villus sampling and amniocentesis and the associated risks.
β - Skill: Drawing diagrams to show the stages of meiosis resulting in the formation of four haploid cells.
Good Animation - https://www.youtube.com/watch?v=nMEyeKQClqI
Meiosis
Meiosis
Interphase (interphase is not a part of meiosis
Replication occurs before meiosis during interphase.
Prophase 1:
Metaphase 1
Anaphase 1
Telophase 1:
Prophase II:
Metaphase II:
fibres from the centrosomes at each pole.
Anaphase II:
Spindle fibres pull apart the centromeres and sister chromatids
are pulled towards the opposite poles.
At this point, the chromatids are considered chromosomes again.
Telophase II
∑ - Crossing over and random orientation promotes genetic variation.
Crossing over
Random Variation
∑ - Fusion of gametes from different parents promotes genetic variation.
β - Application: Non-disjunction can cause Down syndrome and other chromosome abnormalities.
β - Application: Studies showing the age of parents influences chances of non- disjunction
Studies showing how the age of parents affects the chances of a non-disjunction occurring
http://10e.devbio.com/article.php?ch=19&id=189
Living with Down's syndrome https://www.youtube.com/watch?v=-jz5znsygn0
Another Video - https://www.youtube.com/watch?v=eBVtcvj8rN8
Article on parents living with a son for 47 years with Down syndrome http://www.dailymail.co.uk/femail/article-2803834/I-wish-d-aborted-son-ve-spent-47-years-caring-s-shocking-admission-read-judge.html
What would you do if you had that choice?
Do the questions on incidences of non-disjunctions on page 167 of your text.
Guidance:
• Preparation of microscope slides showing meiosis is challenging and permanent slides should be available in case no cells in meiosis are visible in temporary mounts.
• Drawings of the stages of meiosis do not need to include chiasmata.
• The process of chiasmata formation need not be explained.
Theory of knowledge: In 1922 the number of chromosomes counted in a human cell was 48. This remained the established number for 30 years, even though a review of photographic evidence from the time clearly showed that there were 46. For what reasons do existing beliefs carry certain inertia?
3.4 Inheritance
Nature of science:
Making quantitative measurements with replicates to ensure reliability. Mendel’s genetic crosses with pea plants generated numerical data. (3.2)
Some definitions
Genotype: the specific alleles of an organism.
Phenotype: the observable characteristics or traits of an organism.
Dominant allele: an allele that has the same effect on the phenotype whether it is present in the homozygous or heterozygous state. The dominant allele masks the recessive in the heterozygous state.
Recessive allele: an allele that only has an effect on the phenotype when present in the homozygous state.
Co-dominant alleles: pairs of alleles that both affect the phenotype when present in a heterozygote.
(The terms incomplete and partial dominance are no longer used.)
Locus: the particular position on homologous chromosomes of a gene.
Homozygous: having two identical alleles of a gene.
Heterozygous: having two different alleles of a gene.
Carrier: an individual that has one copy of a recessive allele that causes a genetic disease in individuals that are homozygous for this allele.
Test cross: testing a suspected heterozygote by crossing it with a known homozygous recessive.
∑ - Understandings:
∑ - Mendel discovered the principles of inheritance with experiments in which large numbers of pea plants were crossed.
∑ - Watch this video on Gregor Mendel and write down a couple of interesting facts https://www.youtube.com/watch?v=GTiOETaZg4w
∑ - Gametes are haploid so contain only one allele of each gene.
∑ - The two alleles of each gene separate into different haploid daughter nuclei during meiosis.
∑ - Fusion of gametes results in diploid zygotes with two alleles of each gene that may be the same allele or different alleles.
∑ - Dominant alleles mask the effects of recessive alleles but co-dominant alleles have joint effects.
Video on Inheritance: https://www.youtube.com/watch?v=CBezq1fFUEA
β - Application: Inheritance of ABO blood groups.
Phenotype | Genotype |
O | ii |
A | I^AI^A or I^Ai |
B | I^BI^B or I^Bi |
AB | I^AI^B |
β - Skill: Construction of Punnett grids for predicting the outcomes of monohybrid genetic crosses.
For example:
Mendel studied many different traits related to pea plants.
One example is seed colour. In pea plants, yellow seeds are dominant over green peas.
If a pea plant that is heterozygous for yellow peas is crossed with a plant with green peas, what are the genotypes and phenotypes of the first generation (F1) of pea plants?
The following are steps to solve the above problem.
1) Create a key for the pea plants using the uppercase letter for the dominant allele and the lower case letter for the recessive allele. In this case, yellow peas can be represented as Y and green peas can be represented as y (yellow peas = Y and green peas = y).
2) Write out the parental cross using the key you created. In this case, the cross would be Yy x yy. This cross is a heterozygous x homozygous recessive cross.
3) Write down the possible genotypes of the gametes. In this case, they would be Y and y from the yellow plant and only little y from the green pea plant as that is the only type of allele.
4) Draw a Punnett square and insert the possible gametes along the top and side. Fill in the possible genotype combinations.
5) Write out the possible genotypes and the genotypic ratio. For this example the genotypes and genotypic ratio is 2:2 or 1:1 Yy:yy
6) Write out the possible phenotypes and phenotypic ratio. For this example, the phenotypes and phenotypic ratio is also 2:2 or 1:1 yellow: green.
Quick Practice
1) In dogs, short hair is dominant over long hair. Two heterozygous short-haired dogs are mated. What are the genotypic and phenotypic ratios of the puppies? What is the probability that the fourth puppy has long hair? Show all your work using a Punnett square.
Co-Dominance
2) A woman that has blood type AB and a man that is homozygous for blood type A, have 4 children. What are the possible genotypes and phenotypes of the offspring? What is the probability they will have a child with the blood type O? Show all work using a Punnett square.
Come back and do this question after we do sex-linked inheritance.
3) A man with hemophilia (a recessive, sex-linked trait condition) has a daughter with a normal phenotype (hint she must be heterozygous). She marries a man who is normal for the trait. What is the probability that a daughter of this mating will be a hemophiliac? That a son will be a hemophiliac? List the possible genotypic and phenotypic ratios. Show all your work using a Punnett square.
***Do the Data-based question on page 173-174 of your textbook***
β - Skill: Comparison of predicted and actual outcomes of genetic crosses using real data.
Do the lab on genetic crosses and probabilities using coin flips
***Do data-based questions on page 176-177***
∑ - Many genetic diseases in humans are due to recessive alleles of autosomal genes, although some genetic diseases are due to dominant or co-dominant alleles.
β - Application: Inheritance of cystic fibrosis and Huntington’s disease.
Cystic Fibrosis
Huntington’s disease
https://www.youtube.com/watch?v=TkfVnzavREw
http://www.thetruthaboutgenetics.com/2011/07/huntingtons-disease-explained-simply.html
∑ - Some genetic diseases are sex-linked. The pattern of inheritance is different with sex-linked genes due to their location on sex chromosomes.
β - Application: Red-green colour blindness and hemophilia as examples of sex-linked inheritance.
Punnett square example: Colorblind man X^b y crossed with a woman with normal vision X^B X^B
As you can see above both daughters will be carriers and both males will have normal vision. This would be the same Punnett square for Hemophilia (Xh y x XH XH).
Punnett square example: Carrier female X^B X^b is crossed with a normal vision male X^B y
** X^b and X^h is the notation for the colorblind and hemophilia alleles. The corresponding dominant alleles are X^B and X^H **
β - Skill: Analysis of pedigree charts to deduce the pattern of inheritance of genetic diseases.
Pedigree charts or diagrams display all of the known genotypes for an organism such as humans and their ancestors.
Explanation of a Pedigree
Here is another more in-depth pedigree chart showing Hemophilia:
How to Determine a Pedigree
***Do the Pedigree Data-Based question on page 183 ***
For co-dominance, the main letter should relate to the gene and the suffix to the allele; both upper case. For example, Roan horses that are co-dominant could be represented as R^B and R^w, respectively. For sickle-cell anemia, HbA is normal and Hbs is sickle cell.
∑ - Many genetic diseases have been identified in humans but most are very rare.
Some good links
http://www.cbsnews.com/news/genetic-disorders-hit-amish-hard/
http://www.medicaldaily.com/woman-not-afraid-anything-even-danger-due-rare-genetic-disorder-318750
https://www.youtube.com/watch?v=SJ6Xpun3qfA
https://www.youtube.com/watch?v=6zMIl7x2WSY
∑ - Radiation and mutagenic chemicals increase the mutation rate and can cause genetic diseases and cancer.
β - Application: Consequences of radiation after the nuclear bombing of Hiroshima and accident at Chernobyl.
https://www.youtube.com/watch?v=5WGUbfzr31s (watch from 26:12 - 47:08)
https://www.youtube.com/watch?v=YfulqRdDbsg Called Inside Chernobyl – quite a good film by an amateur filmmaker. There are some disturbing images.
https://www.youtube.com/watch?v=b8QY5gt1weE (watch 35:00 to 49:00 – study on the effects of radiation on Hiroshima survivors)
****Write 10 facts regarding the consequences of the nuclear bombs in Japan and the nuclear accident in Chernobyl. ****
***Do the Data-Based questions on page 186***
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IB Biology - Curriculum Notes