Mr and Mrs Brown do not have cystic fibrosis but they have a child with cystic fibrosis.

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1 Q. Cystic fibrosis is an inherited disorder. Mr and Mrs Brown do not have cystic fibrosis but they have a child with cystic fibrosis. (a) Draw a ring around the correct answer to complete each sentence. carrier allele. (i) The allele for cystic fibrosis is a dominant allele. recessive allele. () carriers. Mr and Mrs Brown are both immune. infected. () (b) The diagram shows how the allele for cystic fibrosis can be inherited by Mr and Mrs Brown s children. (i) Give the number of one person in the diagram who has cystic fibrosis. The chance that Mr and Mrs Brown' s next child will have cystic fibrosis is () () (c) A genetic counsellor describes to Mr and Mrs Brown one way of screening embryos for cystic fibrosis. Some eggs are collected from Mrs Brown. The eggs are then fertilised in a dish. Several embryos may start to develop. Page of 23

2 The photograph shows how doctors take one cell from each embryo when it is only 3 days old. Pascal Goetgheluck/Science Photo Library The DNA in the cell from each embryo is tested for cystic fibrosis. Doctors select one embryo that is unaffected and place it in Mrs Brown s uterus. The embryo then develops into a baby. Use the information to suggest one advantage and one disadvantage of screening embryos in this way. Advantage... Disadvantage... (2) (Total 6 marks) Q2. People with cystic fibrosis make large amounts of thick, sticky mucus in their lungs. Cystic fibrosis is caused by the inheritance of recessive alleles. (a) What do each of the following mean? (i) Alleles () Recessive () Page 2 of 23

3 (b) Mr and Mrs Brown have a child with cystic fibrosis. They hope to have another child. They want to know the probability that their next child will have cystic fibrosis. They visit a genetic counsellor who explains, You are both heterozygous for cystic fibrosis. There is a in 4 (25%) chance that your next child will have cystic fibrosis. Use the following symbols in answering the questions. N = allele for being unaffected by cystic fibrosis n = allele for cystic fibrosis (i) Mr and Mrs Brown both have the same genotype. What is their genotype?... () There is a in 4 chance that Mr and Mrs Brown s next child will have cystic fibrosis. Use a genetic diagram to explain why. (3) (c) Mr and Mrs Brown do not want to have another child with cystic fibrosis. The genetic counsellor explains two different methods for finding out whether an embryo has cystic fibrosis. The methods are: pre-implantation genetic diagnosis (PGD) chorionic villus sampling (CVS). In PGD, eggs are fertilised in dishes and allowed to grow into embryos. A cell is taken from each embryo when the embryo is 3 days old. The photograph shows how the cell is taken. Photograph: Pascal Goetgheluck/ Science Photo Library Page 3 of 23

4 The DNA in the cell can then be tested. The possibility of a false positive result is about in 6. An unaffected embryo can then be placed in the woman s uterus. The procedure costs about CVS can only be done after 9 weeks of pregnancy. A tiny piece of the placenta is taken out using a tube attached to a syringe. This is grown in tissue culture for about 7 days. The diagram below shows how CVS is done. Page 4 of 23

5 The DNA in the cells can then be tested. About 2 in every 00 women have a miscarriage because of CVS. The possibility of a false positive result is about %. The procedure costs about 600. Following a positive result, the parents must then decide whether to terminate the pregnancy. The genetic counsellor thinks that PGD is a better method than CVS for detecting cystic fibrosis in an embryo. Evaluate this opinion. (4) (Total 0 marks) Q3. In the 860s, Gregor Mendel studied inheritance in nearly pea plants. Pea plants can produce either round seeds or wrinkled seeds. (a) Mendel crossed plants that always produced round seeds with plants that always produced wrinkled seeds. He found that all the seeds produced from the cross were round. Use the symbol A to represent the dominant allele and a to represent the recessive allele. Which alleles did the seeds from the cross have?... () Page 5 of 23

6 (b) Mendel grew hundreds of plants from the seeds of the offspring. He crossed these plants with each other. (i) Mendel s crosses produced 5496 round pea seeds and 832 wrinkled pea seeds. Explain why Mendel s crosses gave him these results. In your answer you should use: a genetic diagram the symbols A and a. (3) One of Mendel s crosses produced 9 round seeds and 6 wrinkled seeds. These numbers do not match the expected ratio of round and wrinkled seeds. Suggest why () (c) The importance of Mendel s discovery was not recognised until many years after his death. Give one reason why. () (Total 6 marks) Page 6 of 23

7 Q4. In humans, sex chromosomes control whether a person is male or female. (a) Use letters X and Y to complete the Punnett square for sex inheritance. Eggs or Sperm or...xx (3) (b) A couple already have three boys. What is the probability that their next child will be a girl? () (Total 4 marks) Q5. Chromosomes contain molecules of DNA. Genes are small sections of DNA. (a) Each gene contains a code. What does a cell use this code for? (2) Page 7 of 23

8 (b) DNA fingerprints can be used to identify people. One example of the use of DNA fingerprints is to find out which man is the father of a child. The diagram shows the DNA fingerprints of a child, the child s mother and two men who claim to be the child s father. The numbers refer to the bars on the DNA fingerprints. (i) Which man, A or B, is more likely to be the father of the child? Use the numbers on the DNA fingerprints to explain your choice. In your answer you should refer to all four people (3) Page 8 of 23

9 Only half the bars of the child s DNA fingerprint match the mother s DNA fingerprint. Explain why (2) (Total 7 marks) Q6. Polydactyly is an inherited condition. Polydactyly is controlled by a dominant allele. The photograph shows the foot of a baby with polydactyly. CNRI/Science photo library A man and his wife have three children. The man has polydactyly. The diagram shows the inheritance of polydactyly in this family. The diagram also shows the number of toes each person has on each foot. In the rest of this question, the following symbols are used to represent alleles. D = allele for polydactyly (6 toes on each foot) d = allele for 5 toes on each foot (a) (i) How many alleles for the number of toes will there be in one sperm cell? () Page 9 of 23

10 Complete the sentence. A sperm cell joins with an egg cell in a process called... () (b) (i) What combination of alleles does the man have? Tick ( ) one box. DD Dd dd () What combination of alleles does the man s wife have? Tick ( ) one box. DD Dd dd () (c) Draw a ring around the correct answer to complete each sentence. (i) The man and his wife plan to have a fourth child. in 2. The probability that this child will have 6 toes on each foot is in 3. in 4. () When Child 2 grows up, he marries a woman with 5 toes on each foot. The probability that their first child will have 6 toes on each foot is in in 4. () (Total 6 marks) Page 0 of 23

11 Q7. Coat colour in rabbits is controlled by one pair of genes. The allele for black coat (N) is dominant to the allele for brown coat (n). The drawing shows the result of crossing a blackcoated rabbit with a brown-coated rabbit. Complete the genetic diagram to show how the young rabbits inherited their coat colour. Use the symbols N and n for the alleles. The alleles of the brown parent have been inserted for you. (Total 3 marks) Page of 23

12 ## Read the passage. Designer Denim Genes USA scientists have successfully used genetic engineering to insert genes for blue pigment into cotton plants. Their aim is to get cotton plants which produce blue cotton so that denims can be manufactured without the need for dyeing. The scientists have also inserted genes that prevent cotton fibres twisting, with the aim of producing drip dry shirts made from natural fibres. Other cotton plants are being genetically engineered to produce their own insecticides. When they have perfected these new types of cotton plants, the scientists will use cloning techniques to produce large numbers of them. (i) Name the substance in cells which carries genetic information. () Explain how molecules of this substance control characteristics such as blue colour in cotton plants. (3) (Total 4 marks) Q9. Cystic fibrosis is an inherited disease which causes the tubes in the lungs to be blocked with sticky mucus. Two parents who do not have the disease can still produce children who do have the disease. (a) Explain how children can inherit this disease from parents who do not have it (use a genetic diagram in your answer if you want to). (4) Page 2 of 23

13 (b) Mucus contains protein. The information for the production of this protein is stored in a gene. Explain how a change in a gene causes a different protein to be produced. (3) (Total 7 marks) Q0. The diagram shows one of the experiments performed by a scientist called Mendel in the 850s. He bred pea plants which had different coloured pea seeds. Page 3 of 23

14 (a) Use words from the box to help you to explain the results of this experiment. dominant factor recessive (3) (b) Mendel explained these results in terms of inherited factors. (i) What do we now call inherited factors?... () Where, in a cell, are these inherited factors found?... () (Total 5 marks) Page 4 of 23

15 ## Spiders produce a protein thread which is extremely strong compared to man-made fibres of the same diameter. Explain how genes control the way the protein is made in the spider s body (Total 4 marks) Q2. Complete the sentences below. Genes pass on... from parents to children. The genes are passed on by the parents reproductive cells. The mothers sex-cells are called.... The fathers sex-cells are called.... Children are similar to their parents because (Total 4 marks) Page 5 of 23

16 M. (a) (i) recessive allele carriers (b) (i) 6 allow nn in 4 / 0.25 / / 25 % / :3 do not accept 3: / :4 / in 3 / 25 (c) advantage: detect CF qualified eg at early stage / before becoming pregnant or (only) healthy children produced allow after only 3 days allow reduces health care costs disadvantage: some embryos are destroyed / may damage embryo allow increased risk of miscarriage ignore not natural ignore cost [6] M2. (a) (i) (alternative) forms / types of a / the same gene only expressed if 2 copies inherited or not expressed if other allele present allow over ruled / over powered by the other allele (b) (i) Nn ignore heterozygous genetic diagram including: accept alternative symbols, if defined gametes: N and n from both parents accept alternative symbols if correct for answer to (b)(i) Page 6 of 23

17 correct derivation of offspring genotypes: NN Nn Nn nn allow if correct for candidate s parental genotypes / gametes identification of nn as having cystic fibrosis (c) Argued evaluation any four from: PGD higher financial cost accept CVS only costs 600 PGD occurs before pregnancy / implantation accept detected at earlier stage so less unethical / less trauma PGD does not involve abortion so less trauma / less pain / ethical PGD higher incidence of false positive / use of numbers so higher risk of destroying healthy embryo accept PGD has (surplus) embryos so some destroyed / unethical PGD no chance of miscarriage whereas CVS does or PGD less chance of miscarriage 4 [0] M3. (a) Aa allow dominant and recessive allow heterozygous (b) (i) gametes A, a and A, a max if gametes are incorrect (eg in punnet square) correctly derived offspring from cross allow ecf from their gametes identification of round and wrinkled offspring for this mark the phenotype of each different offspring genotype must be indicated (due to) chance or expected ratio is only a probability accept the idea of small numbers not representative ignore anomaly / random / coincidence do not accept error Page 7 of 23

18 (c) any one idea from: genes / chromosomes / alleles / DNA not discovered / known about do not accept religious theme (ie confusion with Darwin s difficulties with the church) published in obscure journal / few scientists read his work [6] M4. (a) (X) (XX) XX Y XY XY mark for Y in sperm box mark if XX box correct mark if both XY boxes correct 3 (b) : or 50% or ½ or 0.5 or in 2 or out of 2 or 50 : 50 do not accept 50/50 accept equal (probability) [4] M5. (a) any two from: to combine / use amino acids do not allow to make amino acids in specific / particular / correct / right order to manufacture protein / enzymes / hormones allow examples of proteins / enzymes / hormones 2 Page 8 of 23

19 (b) (i) (man) B no mark for this but max 2 marks if A given any three from: child gets DNA / bars / lines from mother and father / parents ignore genes / chromosomes (child has) mother s 25 / 28 / 30 / 3 or child gets 7 / 9 / 22 / 24 from mother (child has) man B s 0 / 2 / 3 / 4 or child gets 8 / 20 / 2 / 23 from B contradictions disqualify 2 nd and / or 3 rd marking points ignore genes / chromosomes no bars / DNA / lines from man A correspond to child 3 any two from: gametes / eggs / sperm contain only half of (mother s / father s) DNA / chromosomes / genes / genetic information due to meiosis 2 [7] M6. (a) (i) (b) (i) Dd fertilisation / fusion allow sexual reproduction allow fertilise / fuse ignore joining dd Page 9 of 23

20 (c) (i) in 2 0 [6] M7. genotype of parent A Nn gametes N n n n young genotypes and phenotypes all correct for mark each [3] M8. (i) DNA (accept RNA) for one mark DNA carries coded information which controls the order of amino acids in proteins for mark each 3 [4] M9. (a) caused by a recessive* gene / allele (allow non / not dominant) both parents heterozygous / carry the gene / allele for mark each offspring needs two recessive genes to have / inherit disease for 2 marks or Nn Nn NN Nn Nn nn for mark each nn identified as having the disease* for 2 marks 4 Page 20 of 23

21 (b) any reference to DNA gains mark but different genes means difference in DNA gains 2 marks idea of different codes / instructions for making proteins or different (order of) amino acids (in proteins) for mark 3 [7] M0. (a) any three from: factor for colour has two forms accept gene for factor and allele for form yellow dominant since all first generation yellow accept F for first generation green recessive since reappears in second generation accept F2 for second generation 3 (b) (i) genes accept alleles / genetic nucleus accept chromosomes / DNA [5] Page 2 of 23

22 M. idea (gene) in DNA (i.e. mention of DNA) (DNA) contains bases (bases) code for amino acids (in protein) (amino acids) in correct order to make the (spider) protein any four for mark each (No credit for double helix, pairs of bases - but no penalty) [4] ## idea of information/characteristics/features/dna [alternative answer how they are passed on i.e via reproduction] eggs/ova [not ovaries] sperm idea that they have inherited their parents genes each for mark [4] Page 22 of 23

23 Page 23 of 23

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