Inheritance Question Booklet Name………………………………….….. Target Grade………………….. Grade achieved………………. __/94 __% Unit 4- Woodford County High School 1. The inheritance of ABO blood groups is controlled by three alleles of the same gene, IA IB and IO. The alleles IA and IB are codominant. Both IA and IB are dominant to the allele IO. (a) Explain what is meant by an allele. .................................................................................................................................... .................................................................................................................................... (1) (b) (i) Complete the table to show the missing genotypes. Blood group phenotype Possible genotype A IAIA, .......... B IBIB, .......... AB ...................... O ...................... (2) (ii) Children of blood groups A and O were born to parents of blood groups A and B. Complete the genetic diagram to show the possible ABO blood group phenotypes of the children which could be produced from these parents. Parental phenotypes Blood group A Blood group B Parental genotypes Genotypes of gametes Genotypes of children Phenotypes of children (3) (Total 6 mark) Unit 4- Woodford County High School 2. The diagram shows the pathway by which phenylalanine is normally metabolised. phenylalanine enzyme A tyrosine DOPA melanin (dark pigment in skin, hair and eyes) dopamine (brain transmitter involved in motor coordination) Phenylketonuria (PKU) is a condition which results from the absence of enzyme A. People with PKU are homozygous for a recessive allele which fails to produce this enzyme. (a) Use the information shown in the diagram to give one symptom you might expect to be visible in a person who inherits PKU. ..................................................................................................................................... (1) (b) Explain how gene mutation may result in an allele which fails to produce a functional enzyme. ..................................................................................................................................... ..................................................................................................................................... ..................................................................................................................................... ..................................................................................................................................... ..................................................................................................................................... ..................................................................................................................................... (3) Unit 4- Woodford County High School (c) (i) A child with PKU was born to two unaffected parents. Complete the genetic diagram to show how this is possible. Parental phenotypes Parental genotypes Genotypes of gametes Genotypes of children Phenotypes of children (2) (ii) What is the probability that a second child born to these parents will have PKU? .......................................................................................................................... (1) (Total 7 marks) Unit 4- Woodford County High School 3. (a) Explain what is meant by a recessive allele; .................................................................................................................................... .................................................................................................................................... a sex-linked gene. .................................................................................................................................... .................................................................................................................................... (2) (b) Nail-patella syndrome is an inherited condition caused by a single gene. Sufferers have abnormal nail growth and underdeveloped kneecaps. The pedigree shows how members of one family were affected by the syndrome. Affected male 1 2 Unaffected male Affected female 3 5 6 7 4 8 9 Unaffected female 10 Explain one piece of evidence from the pedigree which indicates that (i) the allele for the nail-patella syndrome is dominant; .......................................................................................................................... .......................................................................................................................... .......................................................................................................................... (2) (ii) the gene is not sex-linked. .......................................................................................................................... .......................................................................................................................... (2) (Total 6 marks) Unit 4- Woodford County High School 4. In a species of fruitfly, females have two X chromosomes, and males have an X and a Y chromosome. A gene controlling eye shape in fruitflies is sex-linked, and found only on the X chromosome. This gene has two alleles, R for round eyes and B for bar eyes. A homozygous, round-eyed female (XR XR) was crossed with a bar-eyed male. In the offspring (Offspring 1), all the female offspring had wide bar eyes (intermediate in size) and all the males had round eyes. The figure shows the head of three fruitflies Wide bar eye (a) Bar eye Round eye Name the relationship between the two alleles that control eye shape. ..................................................................................................................................... (1) (b) Give the genotype of the male parent. ..................................................................................................................................... (1) Unit 4- Woodford County High School (c) Offspring 1 were allowed to interbreed. Complete the genetic diagram to show the phenotypic ratio you would expect in the resulting Offspring 2. Parental phenotypes male Parental genotypes Offspring 1 phenotypes male Round-eyed female Bar-eyed XR XR Wide bar-eyed female Round-eyed Offspring 1 genotypes Gametes Offspring 2 genotypes Offspring 2 phenotypes and ratio (3) (Total 5 marks) Unit 4- Woodford County High School 5. (a) Explain what is meant by (i) a recessive allele; .......................................................................................................................... .......................................................................................................................... (ii) codominant alleles. .......................................................................................................................... .......................................................................................................................... (2) (b) Chickens homozygous for black feathers were crossed with chickens homozygous for white feathers. These colours are determined by alleles of a single gene. All the F1 offspring had blue feathers. When the blue-feathered F1 chickens were crossed with each other, there were black-feathered, white-feathered and blue-feathered chickens in the F2 offspring. (i) Complete the genetic diagram to explain. how the F1, and F2 phenotypes were produced. Parental phenotypes Parental genotypes Black-feathered FBFB White-feathered FWFW F1 genotype F1, gametes F2 genotypes F2 phenotypes feathered Black-feathered White-feathered Blue(4) (ii) The number of black-feathered, white-feathered and blue-feathered chickens in the F2 offspring was counted. The observed ratio of black : white : blue was similar to the ratio expected from theory but not the same. Explain why observed ratios are often not the same as the expected ratios. .......................................................................................................................... .......................................................................................................................... (2)(Total 8 marks) Unit 4- Woodford County High School 6. (a) Explain what is meant by (i) an allele; .......................................................................................................................... .......................................................................................................................... (ii) a sex-linked gene. .......................................................................................................................... .......................................................................................................................... (2) (b) Becker muscular dystrophy is an inherited condition caused by an allele of a gene. Sufferers experience some loss of muscle strength. The diagram shows how members of one family were affected by the condition. 1 Affected male 2 Unaffected male 3 6 7 (i) 4 8 9 Unaffected female 5 10 11 Explain one piece of evidence from the diagram which shows that the allele for Becker muscular dystrophy is recessive. .......................................................................................................................... .......................................................................................................................... .......................................................................................................................... .......................................................................................................................... (2) (ii) The allele for Becker muscular dystrophy is sex-linked. Explain how individual 9 inherited the condition from his grandfather. .......................................................................................................................... .......................................................................................................................... ...........................................................................................(2)(Total 6 marks) Unit 4- Woodford County High School 7. The production of pigment in rabbit fur is controlled by two genes. One gene controls whether any pigment is made. This gene has three alleles. Allele A codes for the production of one form of the enzyme tyrosinase, which converts tyrosine into a black pigment. Allele Ah codes for the production of a second form of the enzyme, which becomes inactive at temperatures close to a rabbit’s core body temperature, so only the face, ears, legs and tail are pigmented. A third allele, a, fails to code for a functional tyrosinase. The other gene controls the density of pigment in the fur. This gene has two alleles. Allele B is dominant and results in the production of large amounts of pigment, making the fur black. Allele b results in less pigment, so the fur appears brown. (a) How do multiple alleles of a gene arise? ..................................................................................................................................... ..................................................................................................................................... ..................................................................................................................................... (2) (b) The table shows some genotypes and phenotypes. Genotype Phenotype A–B– all fur black aaB– all fur white (albino) ahabb white body fur with brown face, ears, legs and tail (Himalayan) (i) What do the dashes represent in the genotype of the black rabbit? .......................................................................................................................... .......................................................................................................................... (1) (ii) Give all the possible genotypes for a Himalayan rabbit with black face, ears, legs and tail. .......................................................................................................................... (2) (iii) Suggest an explanation for the pigment being present only in the tail, ears, face and legs of a Himalayan rabbit. .......................................................................................................................... .......................................................................................................................... (2) Unit 4- Woodford County High School (c) Using the information given, explain why the phenotypes of rabbits with AABB and AahBB genotypes are the same. ..................................................................................................................................... (2) (Total 9 marks) 8.S A woman comes from a family with a history of the sex-linked condition haemophilia. A test was carried out to discover the sex of one of the embryos produced by IVF. (i) Explain how observation of the chromosomes from an embryo cell could enable the sex to be determined. ..................................................................................................................................... ..................................................................................................................................... ..................................................................................................................................... ..................................................................................................................................... (2) (ii) The mother is known to carry the haemophilia allele. The father does not have haemophilia. What is the probability of their first child having haemophilia? Explain your answer. ..................................................................................................................................... ..................................................................................................................................... ..................................................................................................................................... ..................................................................................................................................... ..................................................................................................................................... ..................................................................................................................................... (3) (Total 5 marks) 9. In a breed of cattle the H allele for the hornless condition is dominant to the h allele for the horned condition. In the same breed of cattle the two alleles CR (red) and CW (white) control coat colour. When red cattle were crossed with white cattle all the offspring were roan. Roan cattle have a mixture of red and white hairs. (a) Explain what is meant by a dominant allele. ..................................................................................................................................... ..................................................................................................................................... (1) (b) Name the relationship between the two alleles that control coat colour. ..................................................................................................................................... (1) Unit 4- Woodford County High School (c) Horned, roan cattle were crossed with white cattle heterozygous for the hornless condition. Compete the genetic diagram to show the ratio of offspring phenotypes you would expect. Parental phenotypes Horned, roan × hornless, white Parental genotypes Gametes Offspring genotypes Offspring phenotypes Ratio of offspring phenotypes (4) (d) The semen of prize dairy bulls may be collected for in vitro fertilisation. The sperms in the semen can be separated so that all the calves produced are of the same sex. The two kinds of sperms differ by about 3% in DNA content. (i) Explain what causes the sperms of one kind to have 3% more DNA than sperms of the other kind. .......................................................................................................................... .......................................................................................................................... .......................................................................................................................... .......................................................................................................................... (2) (ii) Suggest one reason why farmers would want the calves to be all of the same sex. .......................................................................................................................... .......................................................................................................................... (1) (Total 9 marks) Unit 4- Woodford County High School 10. In cats, one of the genes for coat colour is present only on the X chromosome. This gene has two alleles. The allele for ginger fur, XB, is dominant to that for black fur, Xb (a) All the cells in the body of a female mammal carry two X chromosomes. During an early stage of development one of these becomes inactive and is not expressed. Therefore female mammals have patches of cells with one X chromosome expressed and patches of cells with the other X chromosome expressed. Tortoiseshell cats have coats with patches of ginger and patches of black fur. (i) What is the genotype of a tortoiseshell cat? .......................................................................................................................... (1) (ii) Explain why there are no male tortoiseshell cats. .......................................................................................................................... (1) (b) A cat breeder who wished to produce tortoiseshell cats crossed a black female cat with a ginger male. Complete the genetic diagram and predict the percentage of tortoiseshell kittens expected from this cross. Parental phenotypes: black female Parental genotypes: ......................... ........................ Gamete genotypes: ......................... ........................ ginger male Offspring genotypes: .................................................................................................. Percentage of tortoiseshell kittens: ............................................................................. (3) (Total 5 marks) Unit 4- Woodford County High School 11. In the flour beetle, the allele for red body colour (R) is dominant to the allele for black body colour (r). A mixed culture of red beetles and black beetles was kept in a container in the laboratory under optimal breeding conditions. After one year, there were 149 red beetles and 84 black beetles in the container. (a) Use the Hardy-Weinberg equation to calculate the expected percentage of heterozygous red beetles in this population. Answer: .............................................. (3) (b) Several assumptions are made when using the Hardy-Weinberg equation. Give two of these. 1.................................................................................................................................. 2.................................................................................................................................. (2) (Total 5 marks) 12. The diagram shows three generations of a family. 1 2 5 6 3 4 7 8 9 10 11 Key: Unaffected male Unaffected female Affected male Affected female No member of the family showed the symptoms of cystic fibrosis (CF) until the son was born in the third generation. A single gene is responsible for the inheritance of cystic fibrosis. Unit 4- Woodford County High School (a) Assume that no gene mutations have occurred in these generations. Use F for the dominant allele and f for the recessive allele to give the possible genotype or genotypes of: individual 7;................................................................................................................. individual 11................................................................................................................ (2) (b) Give the probability that the next child of parents 7 and 8 will be a girl with cystic fibrosis. Show how you arrived at your answer. Probability that child will be a girl with cystic fibrosis: ............................................ (2) (c) In the UK, 1 in every 2 500 children has cystic fibrosis. What is the frequency of the cystic fibrosis allele in children in the UK? Show how you arrived at your answer. Frequency of cystic fibrosis allele: ........................... (2) (Total 8 marks) Unit 4- Woodford County High School 13. In cats, some aspects of the inheritance of fur colour are sex linked. When a ginger male cat was crossed with a black female, all the female kittens were tortoiseshell (a pattern of black hairs and ginger hairs) and all the male kittens were black. However, in the reciprocal cross, although all the female kittens were again tortoiseshell, the male kittens were ginger. (a) Complete the following genetic diagrams to explain the results of these two crosses. Use the following symbols: XB = an X-chromosome carrying an allele for black hair. XG = an X-chromosome carrying an allele for ginger hair. Cross 1 Cross 2 Parental phenotypes Ginger x Black male female Black male x Ginger female Parental genotypes .......... .......... .......... .......... Gametes ................... ................... ................... ................... Offspring genotypes ........................................ ........................................ Offspring phenotypes ....................................... ....................................... ....................................... ....................................... (4) (b) Why were no male tortoiseshell cats produced in these crosses? ..................................................................................................................................... ..................................................................................................................................... (1) (Total 5 marks) Unit 4- Woodford County High School 14. Huntington’s disease is a human inherited condition resulting in gradual degeneration of nerve cells in the brain. It is caused by a dominant allele but usually no symptoms are evident until the person is at least 30 years old. It is very rare in most populations. However, in one isolated area in Venezuela, 48% of the population possess a genotype which gives rise to Huntington’s disease. Many of the inhabitants of this area can trace their origins back to a common ancestor 200 years ago. (a) Use the Hardy-Weinberg equation to estimate the percentage of this Venezuelan population which is heterozygous for Huntington’s disease. Show your working. Answer = ....................................... % (3) (b) Suggest why (i) there is such a high incidence of Huntington’s disease in this population; .......................................................................................................................... .......................................................................................................................... .......................................................................................................................... (ii) Huntington’s disease has not been eliminated from this population by natural selection. .......................................................................................................................... .......................................................................................................................... .......................................................................................................................... (3) (Total 6 marks) Unit 4- Woodford County High School 15. Red-green colour blindness is caused by a mutation in the gene coding for one of the opsin proteins which are needed for colour vision. The diagram shows the inheritance of red-green colour blindness in one family. 1 5 2 6 3 7 10 8 11 4 9 12 14 13 15 16 Key = colour-blind male = unaffected male = unaffected female Person 12 is pregnant with her fourth child. What is the probability that this child will be a male with red-green colour blindness? Explain your answer by drawing a genetic diagram. Use the following symbols XR = an X chromosome carrying an allele for normal colour vision Xr= an X chromosome carrying an allele for red-green colour blindness Y = a Y chromosome Probability = ...................................... (Total 4 marks) Unit 4- Woodford County High School Mark Scheme 1. (a) (different) forms of a gene; (b) (i) (ii) 1 IAIO; IBIO; IAIB; IOIO; (4 correct = 2 marks; 3 or 2 correct = 1 mark; 1 correct = 0) IAIO genotypes IBIO max 2 1 gametes IA IO IB IO 1 genotypes phenotypes IAIB AB IAIO A IBIO B IOIO O; 1 [6] 2. (a) lack of skin / eye / hair pigment/ fair skin/ hair/poor co-ordination; 1 (b) alteration in sequence / deletion / substitution / addition of nucleotides/bases; incorrect amino acids inserted into polypeptide / protein; alters active site / substrate cannot bind; 3 (c) (i) (ii) Parental pheno types Parental genotypes Genotypes of gametes normal Nn N+n Genotypes of children Phenotypes of children NN Nn Normal Normal x x x normal Nn N+n; 1 Nn nn Normal Affected; 1 25% / ¼ / 0.25 / 1 in 4; 1 [7] 3. (a) (b) recessive only expressed (in the phenotype) when homozygous 1 sex-linked gene is on the X chromosome (in humans)/ Y chromosome. 1 (i) (ii) 3 and 4 produce unaffected male/8 / female/10, so must carry recessive; but both affected by nail-patella which must be dominant. 3 inherits X from mother, who is not affected; Unit 4- Woodford County High School 2 if sex-linked, 3 would have nail-patella on X chr and would pass on to all female offspring; 10 is recessive female, so gene not sex-linked. max 2 [6] 4. (a) Condominance; (Allow incomplete / inheritance without dominance) 1 (b) XBY OR B(-); 1 (c) Parental genotypes are given: XR XR (XB Y) - no mark Offspring 1 genotypes: XR XB XR Y XR XB X RY XR XR Offspring 2 genotypes: Offspring 2 phenotypes: round eyed female Ratio: 1 ; XB Y ; wide-bar round eye bar-eye female male male; : 1 : 1 : 3 1 (Ignore ratio unless it contradicts: be alive to other possible ratios) (No marks as such for “gametes”, though may inform markers where unclear.) [5] 5. (a) (b) recessive, only expressed in phenotype if homozygous; codominant alleles, both expressed (in phenotype), if both present, (i) (ii) 2 F1, - FB FW; gametes clearly indicated – FB and FW; F2 genotypes correct and in correct order – FBFB FWFW FBFW working clearly set out; 4 chance related to mating; random fusion of gametes; small sample size; differential mortality; 2 max Unit 4- Woodford County High School 6. (a) allele, one form of a (specific) gene; sex-linked, on sex chromosomes/X/Y; b) (i) 3 and 4 do not show the condition but 9/one male does; 4 must be carrier; OR 1 affected but not daughter/4; who gets X from father; (ii) grandfather/1 passed on his (affected) X chromosome to his daughter/4; who was unaffected, because of the ‘normal’ X inherited from her mother/2; 9 inherited his X chromosome from his mother/4; 1 1 2 2 max [6] 7. (a) (b) (c) mutations; which are different/at different positions in the gene; 2 (i) either dominant or recessive allele; 1 (ii) ahah BB, ahaBB, ahah Bb, ahaBb;; (allow 1 mark for 2 or 3 correct answers) 2 (iii) temperature lower at extremities; enzyme active/ not denatured; if allele A is present (normal) tyrosinase/enzyme is produced, so it does not matter what other allele is present / explanation of why heterozygote is same phenotype as double dominant in terms of enzyme produced; phenotype/rabbit is black as both have alleles A and B; 2 2 [9] (i) female XX, male XY; Y shorter/smaller than X; (ii) haemophilia is a recessive allele; defective allele (gene) present on X, missing from Y; male 0.5(50%/½) probability of haemophilia; female 0/no chance; (0.25(25%/¼) first baby having haemophilia); or Unit 4- Woodford County High School 2 XHXhXHY; XHXH + XHXh + XHY + Xh Y; XhY is a sufferer 3 max [5] 9. (a) is always expressed(in the phenotype) / produces (functional) proteins; 1 (b) codominance; 1 (c) Parental geneotypes - hhCRCw, hCR HhCwCw; hCW HCW hCW GametesOffspring geneotypes - HhCRCw, hhCRCw, HhCwCw, hhCwCw; Offspring pheneotypes - hornless horned hornless horned roan 1 Ratio of offspring - (d) (i) (ii) roan 1 white 1 white 1; 4 sperm(with more DNA) have X chromosome; X is larger / has more genes than Y; 2 female for milk / males for meat / male or female for breeding; 1 [9] 10. (a) (b) (i) XBXb /XBXb (ii) Need two X chromosomes / males have only one X / male has a Y / X and Y chromosome / no allele on Y; Parental genotypes gamete genotypes offspring genotypes 1 XbXb Xb 1 XBY XB Y; XX X Y / correct from given gametes if sex-linked; percentage of tortoiseshell kittens = 50% / correct from offspring genotype given; b B b 3 [5] 11. (a) EITHER: q2 = 0.36 / q = 0.6/0.61; p = (1 – 0.6) = 0.4/0.39; 48/47.9 = 3 marks OR (If no correct calculations) Unit 4- Woodford County High School (b) Allow 1 mark for use of H – W equation: p + q = 1 /p2+2pq + q2 = 1 max. 3 No selection; random mating/no sexual selection; large population/gene pool; no emigration/immigration/no migration/isolated population; no mutation; equally viable gametes/all equally fertile; generations do not overlap; max. 2 [5] 12. (a) 1ndividual 7 Ff, individual 11 FF and Ff, (b) Working shows probability next child will have cystic fibrosis = and M/F = 50% / 0.5/½; 1 answer given as / 0.125 / 1 (chance) in 8 / 12.5%; 8 (c) (d) 1 1 1 4 or 0.25 2 (i) Able to insert nucleic acid/DNA into cells/viruses enter/invade cells; 1 (ii) Difficult to get DNA/modified gene (or equivalent) into sufficient cells/DNA may be inserted but not expressed; correct reference to use of method on somatic/body cells not at gamete/zygote stage; DNA only inserted into differentiated cells; treatment must be repeated; correct reference to effects of cystic fibrosis on other organs; max. 1 Calculation attempts to find square root of 2 500 or 1/2500 or 0.0004; 0.02; A 1/50 or 1 in 50 or 2% 2 [8] 13. (a) Parental genotypes and gametes correct: XGY XBXB XBY XGXG ; XG ; Y XB XB Y XG Offspring genotypes and phenotypes correct: XBXG X BY XBXG XGY ONLY these. BUT if error, then award phenotypes if Unit 4- Woodford County High School ; correct re. candidate’s genotypes tortoiseshell black tortoiseshell female male female Must relate to stated genotypes (b) ginger male ; Male has Y with no gene / allele for colour / must have both B and G to be tortoiseshell / male cannot have B and G / 2 colour alleles / male can only have B or G / only 1 colour allele; 4 1 [5] 14. (a) (q2 = 0.52 / q = 0.72) (p = 1 – 0.72 = 0.28) p + q = 1 / p2 + 2pq + q2 = 1 ; Answer = 2pq / use of appropriate numbers; Answer = 40%; (b) 3 Any three from: (MARK AS A WHOLE) Small founder population / common ancestor; Genetic isolation / small gene pool / no immigration / no migration / in-breeding; High probability of mating with person having H-allele; Reproduction occurs before symptoms of disease are apparent; Genetic argument – Hh x hh 50% / Hh x Hh 75% affected offspring; No survival / selective disadvantage; Ignore ‘survival of the fittest’ 3 max [6] 15. parental genotypes correct: XRXr AND XRY; gametes correct for candidate’s parental genotypes; offspring genotypes correct and colourblind male identified as XrY / correct genotypes derived from cand’s gametes and identify XrY; correct probability = ¼ / 0.25 / 25% / 1 in 4 / 1:3 ; 4 [4] Unit 4- Woodford County High School