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Chapter 4: Genetics.

4.1 Chromosomes, genes, alleles and mutations. 4.1.1 State that eukaryote chromosomes are made of DNA and proteins. (1) The DNA in chromosomes in the eukaryotic cells are associated with proteins to make them organised. 4.1.2 Define gene, allele and genome. (1) Gene: A heritable factor that controls a specific characteristic Allele: One specific form of gene, differing from other alleles by one or a few bases Genome: The complete set of an organisms base sequence.

4.1.3 Define gene mutation. (1) Gene Mutation: A random, rare change in genetic material. 4.1.4 Explain the consequences of a base substitution mutation in a relation to the process of transcription and translation, using the example of sickle cell anaemia. (3) Base substitution mutation occurs when one base is substituted with another. This means that a different amino acid is produced. In humans, sickle cell anaemia occurs when the base substitution mutation causes the codon GAG to become GUG. The polypeptide chain translated therefore has different properties and shape. If a DNA is mutated, the base triplet CTC is mutated into CAC which codes for glutamic acid and produces a normal shaped blood cell. However, in mRNA, GAG becomes GUG and valine is produced thus producing sickle shape red blood cells. *Thymine is replaced by Uracil in RNA* Oxygen cannot be efficiently carried by the sickle shape of red blood cell.

4.4 Genetic engineering and biotechnology 4.4.1 Outline the use of polymerase chain reaction (PCR) to copy and amplify minute quantities of DNA. (2) PCR can be used to obtain large amounts of DNA from a small sample so that it can be analysed. The nucleic acids are copied to make millions of copies of DNA Results from large amounts can be obtained through gel electrophoresis.

4.4.2 State that, in gel electrophoresis, fragments of DNA move in an electric field and are separated according to their size. (1) DNA fragments are placed in small holes in gel. The gel is exposed to an electric current. The smallest, lightest and most charged particles will pass to the other side of the gel easily while heavier, bigger and lower charged particles will move slowly through the holes in the gel.

4.4.3 State that gel electrophoresis of DNA is used in DNA profiling. (1) DNA profiling is a process of matching unknown sample of DNA with a known sample to see if they correspond. It is done using separation by gel electrophoresis. If bands formed by two samples are same, it is from the same individual.

4.4.4 Describe the application of DNA profiling to determine paternity and also in forensic investigation. (2) DNA profiling can be used to determine paternity. A persons biological father can be determined using DNA profiling. In solving crime, DNA samples from the crime scene can be compared with the DNA of the suspect using this technique. It can help solve cases and also free innocent people. In the study of the ecosystem, DNA of animals are taken and compared with other animals to determine whether they could be related


Analyse DNA profiles to draw conclusions about paternity or forensic investigations. (3)

From the gel electrophoresis above, we can determine that the father of the child is Male 2. Since the childs DNA comes from both the parents, all the childs DNA can be traced back to either the father or mother. As in this case, every DNA of the child can be traced either to the mother or Male 2.

As for the above example, the gel electrophoresis results show that the sample found in the crime scene has the most similarities with Suspect 1, therefore indicating that that person may be the culprit. 4.4.6 Outline three outcomes of the sequencing of the complete human genome. (2) - An improved understanding of diseases. -Production of new medication -The history of human ancestries could be figured out and how human genes are mixed.

4.4.7 State that, when genes are transferred between species, the amino acid sequence of polypeptides translated from them is unchanged because the genetic code is universal. (1) The genetic is code is universal for all living species. Hence, if genes are transferred between species, the same amino acid will be translated. For example, the mRNA codon CUU codes for the amino acid leucine for all organisms.

4.4.8 Outline a basic technique used for gene transfer involving plasmids, a host cell (bacterium, yeast or other cell), restriction enzymes (endonucleases) and DNA ligase. (2)

4.4.9 State two examples of the current uses of genetically modified crops or animals. (1)

Flavr Savr: tomato Genetically altered to stay fresh longer Adding another gene that block the gene for the production of enzyme that cause rotting Bt corn: maize A gene from Baccilus thuringiensis (Bt) incorporated into the maize DNA The plant produces a toxin that makes them resistant to insects Golden rice: rice 3 genes of daffodil plants and 1 gene from bacterium inserted into rice plant Orange pigment (-carotene) produced in rice grains -carotene is a precursor of vitamin A Deficiency of vitamin A can cause blindness Golden rice reduce the probability of vitamin A deficiency hence lowering the rate of blindness

4.4.10 Discuss the potential benefits and possible harmful effects of one example of genetic modification. (3) Benefits of Bt Corn: 1. 2. 3. 4. Damage caused by European corn borer (ECB) is reduced. Less than one extra application on insecticide. Less checking for ECB is required. Reduces the infection with fungus so mycotoxin levels are lowered.

Harmful effects of Bt Corn: 1. Will kill other insects. 2. Insects may develop resistance to Bt toxin. 3. Difficult to prevent pollen with Bt gene from travelling outside the area where Bt corn is planted. It can fertilize a non-Bt corn and therefore not being able to be sold as organic corn. 4. Other plant relatives may be fertilized by the Bt-gene pollen and disturb the biodiversity. 4.4.11 Define Clone. (1) Clone: A group of genetically identical organisms or a group of cells derived from a single parent cell

4.4.12 Outline a technique for cloning using differentiated animal cells. (2) Dolly was the first clone sheep. In order to produce Dolly, several steps were taken. 1. A somatic cell from the original sheep that was to be cloned is collected and its nucleus removed. 2. An unfertilized egg was obtained from another sheep and its nucleus removed. 3. Using electricity, the unfertilized egg and the nucleus from the somatic cell is fused together. 4. The new cell formed develops into a zygote and into an embryo. 5. The embryo is placed in a surrogate mother and develops normally. 6. Dolly was born. 4.4.13 Discuss the ethical issues of therapeutic cloning in humans. (3) Arguments in favour: 1. The ability cure serious diseases like leukaemia in the future. Arguments against: 1. Fear that it leads to reproductive cloning. 2. The use of embryonic stem cell involves creation and the destruction of human embryos. 3. Embryonic stem cell may lead to tumours.

Chapter 10: Genetics. (Higher Level)

10.3 Polygenic Inheritance 10.3.1 Define Polygenic Inheritance. (1) Polygenic inheritance concerns the inheritance of a characteristic which is controlled by more than one gene. 10.3.2 Explain that polygenic inheritance can contribute to continuous variation using two examples, one of which must be human skin colour. (3) Skin Colour
Involves the interaction of at least three independent genes. If we assume that A, B and C will each represent alleles for dark skin, then a, b and c will represent alleles for light skin. Each person will have two alleles per gene, so six alleles in total

(allele) Light skin - (allele) Thus, darkest skin will have phenotype and lightest skin will have phenotype If these two produced offspring, they would have the genotype with an
Dark skin intermediate skin colour.

Genes for Obesity In humans, the hormone Leptin regulates appetite and metabolism. The gene Ob(Lep) is located on chromosome 7. Yet, there are other known genes for obesity located at other chromosomes.