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A-LevelBiologyInherited change9700/43 · May/June 2021 · Q79 Marks

(a) Haemoglobin is made of two α-globin chains and two β-globin chains. A person may have a mutation in the gene coding for β-globin. This is due to a base substitution and leads to the production of abnormal β-globin and therefore abnormal haemoglobin. A person who is homozygous for the mutant allele will have a condition called sickle cell anaemia.

  1. (a)Outline the phenotypic effects of having abnormal haemoglobin in a person with sickle cell anaemia.[4]
  2. (b)(i)HbA is the allele coding for normal β-globin. HbS is the allele coding for abnormal β-globin. The alleles are codominant. Explain what is meant by the alleles being codominant.[1]
  3. (b)(ii)A person who is heterozygous will have sickle cell trait but may not experience the symptoms of sickle cell anaemia. Suggest why a person with sickle cell trait may not show the symptoms of sickle cell anaemia.[1]
  4. (b)(iii)Construct a genetic diagram to show the possible offspring for a man and a woman who both have sickle cell trait. parental phenotype parental genotype gametes offspring genotypes offspring phenotypes[3]

Mark scheme

Marking points from the official mark scheme (May/June 2021). The mark or mark type is shown in brackets.

  1. [1] (a) haemoglobin less soluble;
  2. [1] (a) (if oxygen concentration decreases) haemoglobin molecules, stick together / form long fibres ;
  3. [1] (a) red blood cells, pulled out of shape / become sickle shaped ;
  4. [1] (a) blood poor at transporting oxygen ;
  5. [1] (a) (so) less oxygen getting to, cells / tissues / organs ;
  6. [1] (a) red blood cells may, get stuck in / block, capillaries / vessels ;
  7. [1] (a) pain / sickle cell crisis / fatigue ;
  8. [1] (b)(i) both alleles, contribute to / expressed in, the phenotype (in the heterozygote);
  9. [1] (b)(ii) smaller quantity of abnormal haemoglobin ;
  10. [1] (b)(ii) fewer red blood cells become sickled / sickling less severe; ORA
  11. [1] (b)(ii) not affected by low(er) oxygen concentration ;
  12. [1] (b)(iii) parental genotype HbA Hbs HbA Hbs ;
  13. [1] (b)(iii) gametes HbA Hbs HbA Hbs
  14. [1] (b)(iii) offspring genotypes HbA HbA HbA Hbs (HbA Hbs) HbS HbS ;
  15. [1] (b)(iii) offspring phenotypes normal SCT (SCT) SCA ; I carrier

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About this question

Topic
Inherited change, A-Level Biology (syllabus 9700). Structured question, 9 marks.
Source
A-Level Biology, May/June 2021 Paper 4 Variant 3, question 7.

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