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    Question
    SLPaper 2
    1.

    A family has a history of hemophilia that is caused by a sex-linked recessive allele. A woman from this family is a carrier and marries a man who does not have the allele. Showing your working, determine the probability of their children having the disease.

    [3]
    Verified
    Solution
    1. Alleles clearly labelled for both parents (in a Punnett square or other format);
    2. Correct genotypes for all four possibilities for children;
    father
    motherXHX^HXHYYY
    XhX^hXhXHXhX^H X^hXHXhXhYX^h YXhY
    XHX^HXHXHXHX^H X^HXHXHXHYX^H YXHY
    1. Phenotypes of the children: the sons would have a 50 % chance of having hemophilia and the daughters would have 0 % chance of having hemophilia/50 % chance of being a carrier;

    Sex needs to be mentioned for mpc but info can be taken from the Punnett square.

    2.

    Outline how a protein is made in a cell by the process of translation.

    [5]
    Verified
    Solution
    1. Translation occurs on ribosomes when proteins/polypeptides are synthesized 1 mark
    2. Amino acid sequence of a protein is determined by the mRNA 1 mark
    3. mRNA is determined by the order of bases of DNA/order of bases sequence in a gene 1 mark
    4. Codons (of 3 bases) on mRNA correspond to one amino acid in a polypeptide 1 mark
    5. Codons are on mRNA and anticodons on tRNA 1 mark
    6. mRNA binds to ribosome/(during initiation) small ribosomal subunit binds to the start of the mRNA sequence 1 mark
    7. tRNA transfers an amino acid to large ribosomal subunit/to the ribosome 1 mark
    8. Reference to start or stop codon v
    9. tRNA moves to the next mRNA codon to continue the process, creating an amino acid chain 1 mark
    10. Peptide bond formed between amino acids 1 mark
    11. Translation/order of amino acids depends on complementary base pairing between codons and anticodons 1 mark
    3.

    Explain how blood clotting occurs and the consequence for a person who has hemophilia.

    [7]
    Verified
    Solution
    1. Blood clotting seals cuts in the skin 1 mark

    2. Clotting factors are released (from platelets) 1 mark

    3. Thrombin is activated 1 mark A cascade reaction occurs (with thrombin) 1 mark

    4. Fibrinogen is converted to fibrin 1 mark

    5. Fibrin forms a clot/blocks the cut/prevents blood from being lost 1 mark

    6. If a person does not have enough clotting factors/hemophilia, the clot will not form 1 mark

    7. Pathogens can enter the body more easily 1 mark

    8. (In hemophiliacs) blood will be lost from a cut which affects blood pressure/bleeding to death 1 mark

    9. Loss of blood affects amount of hemoglobin/O2_22​ carried around the body 1 mark

    10. Reference to lifestyle/menstrual/birth problems 1 mark

    e.g. surgery, contact sports

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