B1: You and Your Genes Answers

1. Offspring may have some similarity to their parents because of the combination of maternal and paternal alleles in the fertilised egg; i.e. they have inherited some of the same genes from them. 2. We share many physical characteristics, even though there is variation between each individual. 3. You genes: -> i.e. natural eye colour and the shape of your features. Sometimes several genes need to work together -> e.g. height. Environment: can also have an impacts -> i.e. diet, skin colour (might be tanned), tattoos 4. Take any cell in the body: A= Little Nose a=Big Nose Nucleus controls all the activities of a cell and contains instructions for how an Note the genes are in the organism develops same place on the csome 23 Pairs of Chromosomes i.e. one from each parent (N.B. there are only 23 . chromosomes in a sex cell) all chromosomes are the same shape and size except for pair 23 because females have XX and males have XY contains thousands of different genes DNA (deoxyribonucleic acid) a gene is a short section of DNA Gene is a short length of a chromosome each gene is an instruction for a cell and codes for a different protein, which may be structural or an enzyme. Alleles are different forms of a gene i.e. when there are two variations of the same gene, i.e. there will one gene on each chromosome, we call them alleles and they are in the same place on each chromosome. There can be two alleles the same or two different alleles of a gene. -> If there are two little as then the person will have a big nose. If there are two big As then a person will have a little nose and if a person has an A and a a then the person will have a little nose. This is because the A is the dominant feature. 5. Each one does its own job. Structural Protein: To build the body i.e. to build cells, e.g. keratin Enzymes: To speed up chemical reactions in cells e.g. amylase 6. Proteins can be used to: Fight bacteria and viruses To carry oxygen in the blood. To move muscles To send chemical messages around the body. 7. Continuous Variation: A characteristic of any value that changes gradually. E.g. height, weight, foot length.
Most are average height One will be the tallest

8. Discontinuous Variation: A characteristic of any species with only a limited number of categories. E.g. gender, blood group, eye colour.

9. Clone: An exact replica of an organism, i.e. the offspring has 100% of the parents DNA. Twins are clones of each other but environmental factors will change their opinion. 10. Karyotype: All chromosomes of an individual. 11. B b 50% chance of child having blue eyes and 50% chance of brown. b Bb bb b Bb bb 12. Parents pass on their genes to their offspring in their sex cells during fertilisation. Sex cells have copies of half of each parents chromosomes, so there are only 23 chromosomes instead of 46 (23 pairs), so there is only one copy of each chromosome. This means that when a sperm cell fertilises an egg cell the zygote receives 46 chromosomes. Half of its genes are from its mother and half from its father.

13. Brothers and sisters dont look the same because lots of different sets of the 23 chromosomes can be made. No two sex cells will have the same combination. 14. Gender is determined by a gene on the Y csome. This gene is called the SRY gene. SRY stands for sex determining region on the Y csome. The SRY gene codes for a protein (hormone) called androgen. This stimulates the production of the Male Reproduction Organs (at around 6 weeks old.) In the case of females, they dont have a Y csome therefore no SRY gene, so no production of androgen which means that female reproductive organs develop instead 15. Huntingtons Disorder: Its a hereditary, degenerative disorder of the central nervous system. Dominant disorder. Only one dominant allele is needed to suffer from the disease. Can be no carrier for if you have a dominant allele, you are a sufferer. H h H H h Hh hh h Hh Hh h Hh hh h Hh Hh 50% chance will suffer. 100% chance will suffer. Symptoms appear around 40-50 years old. The degeneration of brain cells starts out slowly. Early symptoms may include: - Mood swings - Depression - Irritability - Trouble driving, learning new things - Trouble remembering a fact or making a decision. Cystic Fibrosis: Recessive disorder. A double recessive allele needs to be received to suffer the disease. Can be a carrier for disease if person has only one recessive allele. This means that if they have children with another carrier, there is a chance offspring will develop genetic disorder. F f f Ff ff f Ff ff F f F FF Ff f Ff ff f f F Ff Ff F Ff Ff

50% chance will suffer. 50% chance carrier.

25% chance will suffer. 50% chance carrier.

0% chance will suffer. 100% chance carrier.

16. 17. 18. 19.

Cystic fibrosis is caused by an over production of mucus. This affects: - Breathing (lungs) -> can cause chest infections - Reproduction (testes) - Digestion (Digestive system) -> blocks the tube from the pancreas which carries enzymes to the gut so they are short of nutrients because cant digest properly. Treatment: - Daily physiotherapy to clear mucus out of lungs - Antibiotics for the chest infections - Use enzymes to thin the mucus - Take digestive enzymes with every meal. Genotype: The alleles an offspring inherits. Phenotype: Physical manifestation, i.e. what the animal or plant looks like and how it behaves. Homozygous: E.g. TT or tt meaning both alleles are the same Heterozygous: E.g. Tt meaning the alleles differ.

20. Advantages: Allows you to plan for the future, i.e. whether or not to have children. If not having children you wont have to put them through the disease as well as yourself. Allows you to get treatment earlier Disadvantages: Insurance companies can get hold of the information and charge you a lot for life insurance. Have to disclose the information so people may not want to employ you if you have a disorder because you may be off work a lot. Not having children can have negative psychological effects, e.g. depression and can cause arguments. There will also be no children to look after you in old age. It may also affect the extended family, i.e. not be able to be grandparent 21. Advantages: It informs the parents so that if it is positive they can prepare for the child. Get the child treatment quicker so may not suffer as bad. Disadvantages: Not 100% reliable Chance of miscarriage or infection May have to decide whether or not to have abortion The child, if born, will be labelled from birth with that disorder. 22. PGD (pre implantation genetic diagnosis) is used where embryos are tested for the faulty alleles and only healthy ones are retained. 1. A woman takes a fertility drug so that she releases several ova. Fertility drugs contain hormones. 2. In a small operation the doctor collects the ova. 3. Sperm fertilize the ova in a petri-dish. This is in vito fertilisation (IVF) 4. When the embryos reach the 8 cell stage, one cell is removed from each. 5. The cells are tested for the disorders allele. This is called pre implantation genetic diagnosis (PGD). 6. Only embryos without the disorder allele are implanted into womans uterus. 23. Advantages: Prevents/ reduces termination Children arent born with a disorder Helps NHS as there are less costs for treating ill people Embryos can be tested to see if they are tissue matches for sick siblings Disadvantages: Destruction of healthy embryos if not a tissue match for sick sibling Embryos are destroyed (humans are deciding who lives and dies so god is replaced) Human rights of embryos taken away Discriminates against disabled people -> their lives seem worthless. It devalues human life. 24. False Negatives: the test has not detected that the person has the disorder, but in fact they have. False Positives: The test shows the person has the disorder when actually they dont.

25. Genetic Screening: Testing the whole population for an allele. The decision is taken by the NHS and the Government. What must be considered: It can be very expensive to test everyone for the allele It can be better to spend the money on other things. What benefits are there for testing everyone? Who should know the test results? What effect could the test have on peoples future decisions? Should people be made to have screening or should they be able to opt out? 26. You may not be able to get life insurance or health insurance if you have a particular disease, or you may have to pay a very high premium. People may refuse genetic testing because they are scared the insurance company may find out. If they cannot be diagnosed for this illness then they may not be able to receive treatment which could help them live a more comfortable life. 27. Gene Therapy: Gene therapy involves inserting copies of a normal allele into the chromosome of an individual who carries a faulty allele. It is not always successful, and research is continuing. It cannot be done to sex cells which means the individual could pass on their faulty allele to their children, even if they get better themselves. How is gene therapy carried out? 1. Find the gene involved in the genetic disorder. 2. Cut out the normal allele. Special enzymes are used to do this. 3. Make many copies of the allele. 4. Put copies of the normal allele into the cells of a person who has the genetic disorder. Alternative Methods: 1. Using fat droplets in nose sprays 2. Using cold viruses that are modified to carry the allele - the viruses go into the cells and infect them 3. Direct injection of DNA Problems: 1. The alleles may not go into every target cell 2. The alleles may join with the chromosomes in random places, so they do not work properly 3. Treated cells may be replaced naturally by the patients own untreated cells 28. Amniocentesis: Testing the amniotic fluid. Test foetus at around 14-16 weeks old Take a sample of the amniotic fluid because the babies dead skin cells float in the fluid. The skin cells contain a nucleus which contains the babys DNA, therefore you can test for disorders and diseases. 0.5% chance of miscarriage Very small risk of infection Results at 15-18 weeks Results are not 100% reliable 29. Chronic Villus Test: Testing the placenta villi. Test foetus at around 8-10 weeks Testing the placenta villi because it is made by the foetus so therefore it contains the foetuss cells, which contain the babys DNA so therefore you can test for disorders and diseases. 2% chance of miscarriage Almost no risk of infection Results at 10-12 weeks Results not 100% reliable 30. Asexual reproduction: When only one parent is needed to reproduce, therefore the genes of the two are identical so they are clones. It happens in plants and bacteria. In animals, asexual production is very rare and only happens in sea anemones and starfish for example. 1. Many plants develop underground food-storage organs that later develop into the following years plants. Potato plants and daffodil plants do this. 2. Some plants produce side branches with plantlets on them. The Busy Lizzie plant does this. 3. Others, such as strawberry plants, produce runners with plantlets on them.

31. Environmental factors might mean that clones are not identical. If one has optimum growing conditions and the other doesnt then one will appear healthy, whereas the other will appear wilted. 32. Identical twins are clones. Identical twins are formed when a single embryo separates into two identical embryos. These both develop to form healthy foetus, which share the same DNA because they came from the same single egg and sperm cell. 33. When an adult body cell is transferred to an empty unfertilised egg cell. 1. The nucleus was taken from an unfertilized egg cell. 2. The nucleus was taken out of a body cell from a different animal of that species. 3. This body cell nucleus is put into the empty egg cell. 4. The cell grows to produce a new animal. Its genes will be the same as the animal that donated the nucleus. 34. Cells which are unspecialised so they can form into any specialised cell. In a human embryo this happens at the 8 cell stage. Embryos made up of stem cells can be cloned to make it easier to quickly produce for medical uses. 35. 1. Making new brain cells to treat people with Parkinsons disease 2. Rebuilding bones and cartilage 3. Repairing damaged immune systems 4. Making replacement heart valves 36. Some human embryos will be destroyed during the cloning process. 37. a) It isnt right to clone embryos because you are making human life and then destroying it. Human life is precious. It is murder and embryos shouldnt be murdered just because theyre too young to fight for themselves. b) It helps other people therefore, it is alright. As long as it happens before the embryo is 14 days old it is legal. 38. Its the one that leads to the best outcome for the majority of people involved Certain actions are never justified because they are unnatural or wrong. 39. Therapeutic cloning is used to stop your body recognising implanted cells as foreign cells. It happens by using stem cells. a. Nucleus taken out of a human egg cell b. nucleus from a patient's cell put into the egg cell c. egg cell stimulated to develop into an embryo d. stem cells taken from the embryo e. stem cells grown in a container of warm nutrients f. stem cells treated to develop into required cell types