Cambridge IGCSE0970

Chromosomes, genes and proteins

Biology 0970 Chapter Notes

What this chapter covers

Chromosomes, genes and proteinsMitosisMeiosisMonohybrid inheritance
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1. The Structure of Chromosomes and DNA

In the nucleus of your cells, your genetic information is organised into structures called chromosomes. Each chromosome is a very long, coiled-up molecule of DNA. Think of it like a thread (DNA) wound tightly around a spool to save space. DNA itself has a famous structure called a double helix, which looks like a twisted ladder. The 'sides' of the ladder are made of a sugar-phosphate backbone, and the 'rungs' are made of pairs of chemicals called bases. There are four bases: Adenine (A), Thymine (T), Cytosine (C), and Guanine (G). The rule is that A always pairs with T, and C always pairs with G. This specific pairing is crucial for copying DNA accurately.

Key term

Chromosome: A thread-like structure of DNA, carrying genetic information in the form of genes, found in the nucleus of a cell.

Examiner insight

Examiners award marks for correctly stating the complementary base pairing rule: Adenine with Thymine (A-T) and Guanine with Cytosine (G-C).

Common pitfall

Confusing a gene with a chromosome. A chromosome is a large structure that contains hundreds or thousands of genes.

Fun fact

If you could unspool all the DNA from all the cells in your body, it would stretch to the Sun and back more than 300 times!

Worked example 12 marks

A short section of one strand of a DNA molecule has the base sequence A-T-T-G-C-A. What is the base sequence of the opposite, complementary strand?

  1. 1

    The DNA base pairing rule is A pairs with T, and C pairs with G.

  2. 2

    For the first base, A, the complementary base is T.

  3. 3

    For the second and third bases, T, the complementary base is A.

  4. 4

    For the fourth base, G, the complementary base is C.

  5. 5

    For the fifth base, C, the complementary base is G.

  6. 6

    For the sixth base, A, the complementary base is T.

  7. 7

    Therefore, the complementary strand sequence is T-A-A-C-G-T.

Recap

  • Chromosomes are found in the nucleus and are made of DNA.
  • DNA is a double helix molecule.
  • The rungs of the DNA ladder are made of base pairs.
  • Adenine (A) always pairs with Thymine (T).
  • Cytosine (C) always pairs with Guanine (G).

Quick check

  1. Name the four bases in DNA.2 marks
  2. Where are chromosomes located in an animal cell?1 mark

2. Genes and the Genetic Code

A gene is a specific section of a DNA molecule. It's like a single recipe in a giant cookbook (the chromosome). The 'recipe' written in the gene is the instruction for making one specific protein. The language of this recipe is the genetic code, which is the sequence of the bases A, T, C, and G. A sequence of three bases (a triplet) codes for one specific amino acid. By reading the triplets in order, the cell knows exactly which amino acids to join together, and in what order, to build a particular protein.

Key term

Gene: A length of DNA that codes for a specific protein.

Examiner insight

To get full marks, you must link the sequence of bases in a gene to the sequence of amino acids in a protein.

Common pitfall

Students often incorrectly state that a gene 'is' a protein. A gene is the instruction, or code, for making a protein.

Worked example 13 marks

The base sequence of a gene determines the order of amino acids in a protein. What would be the consequence of a change in the base sequence of a gene?

  1. 1

    A change in the base sequence is called a mutation.

  2. 2

    This change could lead to a different triplet of bases, which may code for a different amino acid.

  3. 3

    This change in the amino acid sequence could alter the final shape of the protein.

  4. 4

    Since a protein's function depends on its shape (e.g., the active site of an enzyme), the protein may no longer function correctly or at all.

Recap

  • A gene is a section of DNA that codes for a protein.
  • The genetic code is the sequence of bases in the gene.
  • The order of bases determines the order of amino acids in a protein.
  • A change in the base sequence (mutation) can change the protein produced.

Quick check

  1. What is the relationship between a gene and a protein?1 mark
  2. What are the 'letters' of the genetic code?1 mark

3. How Genes Make Proteins

Making a protein from a gene is a two-step process. First, inside the nucleus, the cell makes a 'photocopy' of the gene. This copy is not made of DNA, but a similar molecule called mRNA (messenger RNA). This process is called transcription. The mRNA molecule is small enough to leave the nucleus and travel into the cytoplasm. In the cytoplasm, the mRNA attaches to a tiny structure called a ribosome. The ribosome 'reads' the code on the mRNA, three bases at a time. For each triplet, it adds the correct amino acid to a growing chain. This process of building the protein from the mRNA code is called translation. The completed chain of amino acids then folds up to become a functional protein.

Key term

Protein Synthesis: The process of creating proteins, which includes transcription in the nucleus and translation in the cytoplasm.

Examiner insight

Examiners want to see the correct locations for each stage: transcription occurs in the nucleus, and translation occurs at the ribosomes in the cytoplasm.

Common pitfall

A common mistake is thinking that the DNA molecule itself leaves the nucleus. The DNA is too large and important; only the smaller mRNA copy leaves.

Worked example 14 marks

Describe the process by which the code in a gene is used to make a protein.

  1. 1

    The process starts in the nucleus. A copy of the gene is made using mRNA. This is called transcription.

  2. 2

    The mRNA molecule then moves out of the nucleus into the cytoplasm.

  3. 3

    In the cytoplasm, the mRNA attaches to a ribosome.

  4. 4

    The ribosome reads the sequence of bases on the mRNA in triplets.

  5. 5

    For each triplet, a specific amino acid is brought to the ribosome and added to a chain.

  6. 6

    This process, called translation, continues until a full polypeptide chain is formed, which then folds into a protein.

Recap

  • Protein synthesis has two main stages: transcription and translation.
  • Transcription happens in the nucleus and creates an mRNA copy of a gene.
  • Translation happens at the ribosomes in the cytoplasm.
  • During translation, amino acids are assembled in the order specified by the mRNA.
  • The final chain of amino acids folds to form a protein.

Quick check

  1. Where in the cell does transcription take place?1 mark
  2. What is the role of a ribosome in protein synthesis?1 mark

4. How Proteins Determine Characteristics

Everything you are, from your hair colour to how you digest food, is determined by proteins. Your observable characteristics are called your phenotype. These characteristics are the result of the proteins your cells make. For example, enzymes are proteins that act as biological catalysts, controlling all the chemical reactions in your body. Structural proteins, like collagen and keratin, provide support and form structures like skin and hair. Carrier proteins, like haemoglobin in red blood cells, transport substances around the body. Therefore, the specific set of genes an organism has determines the specific set of proteins it can make, which in turn determines its characteristics.

Key term

Phenotype: The observable characteristics of an organism, which are the result of its genes and their interaction with the environment.

Examiner insight

Provide specific, named examples to link proteins to functions. For instance, link the protein 'amylase' to the function 'digestion of starch'.

Fun fact

Your eye colour is determined by the amount and type of a protein-based pigment called melanin in your iris. Genes control how much of this protein is produced.

Worked example 14 marks

Sickle cell anaemia is a genetic disorder caused by a faulty gene. Explain how a faulty gene can lead to this condition.

  1. 1

    The gene for haemoglobin has a mutation (a change in the base sequence).

  2. 2

    This leads to a different amino acid being placed in the haemoglobin protein chain during protein synthesis.

  3. 3

    This change causes the haemoglobin molecule to have a different shape.

  4. 4

    When oxygen levels are low, the faulty haemoglobin causes red blood cells to become a rigid 'sickle' shape.

  5. 5

    These sickle cells can block blood vessels and carry less oxygen, causing the symptoms of the disorder.

Recap

  • An organism's characteristics (phenotype) are determined by the proteins its cells produce.
  • Proteins have many functions, including as enzymes, structural components, and transport molecules.
  • A gene codes for a specific protein.
  • A faulty gene can produce a faulty protein with an incorrect shape, which may not function properly.
  • This can lead to genetic disorders.

Quick check

  1. Give one example of a protein and state its function in the body.2 marks

5. Inheritance, Alleles, and Chromosome Pairs

Most of your cells are diploid, meaning they contain two sets of chromosomes, arranged in homologous pairs. You inherit one chromosome from each pair from your mother, and the other from your father. A gene for a particular trait (e.g., eye colour) is found at the same position, or locus, on both chromosomes in a homologous pair. However, the version of the gene on each chromosome might be different. These different versions of the same gene are called alleles. For example, for the eye colour gene, you might have an allele for brown eyes and an allele for blue eyes. If the two alleles in a pair are the same (e.g., two alleles for blue eyes), you are homozygous for that trait. If the two alleles are different (e.g., one for blue, one for brown), you are heterozygous.

Key term

Allele: One of the different forms of a particular gene.

Examiner insight

Students must be able to distinguish clearly between the terms gene, allele, homozygous, and heterozygous. Using them accurately in written answers is key.

Common pitfall

Confusing genes with alleles. A gene is the instruction for a characteristic (e.g., hair colour), while alleles are the different versions of that instruction (e.g., brown hair, blonde hair).

Worked example 13 marks

In pea plants, the allele for tall stems (T) is dominant to the allele for dwarf stems (t). A plant has the genotype Tt.(a) Is this plant homozygous or heterozygous? Explain your answer.(b) What is the plant's phenotype?

  1. 1

    (a) The plant is heterozygous.

  2. 2

    (a) This is because it has two different alleles for the stem height gene (one T and one t).

  3. 3

    (b) The plant's phenotype is tall.

  4. 4

    (b) This is because the tall allele (T) is dominant, so it is expressed even when the recessive allele(t) is present.

Recap

  • Chromosomes come in homologous pairs, one from each parent.
  • Alleles are different versions of the same gene.
  • An individual with two identical alleles for a gene is homozygous.
  • An individual with two different alleles for a gene is heterozygous.
  • The combination of alleles is the genotype; the expressed characteristic is the phenotype.

Quick check

  1. Define the term 'heterozygous'.1 mark
  2. What is an allele?1 mark

6. Sex Determination in Humans

Your sex is determined by your 23rd pair of chromosomes, known as the sex chromosomes. Females have two X chromosomes (XX). Males have one X chromosome and one much smaller Y chromosome (XY). During meiosis to make gametes, all of a female's eggs will contain one X chromosome. In males, half of the sperm produced will contain an X chromosome, and the other half will contain a Y chromosome. Therefore, the sex of a child is determined by which type of sperm fertilises the egg. If an X sperm fertilises the egg, the resulting zygote is XX (female). If a Y sperm fertilises the egg, the zygote is XY (male). This means there is a 50% probability of having a boy and a 50% probability of having a girl at each conception.

Key term

Sex Chromosomes: A pair of chromosomes (the 23rd in humans) that determine an individual's biological sex; XX for female and XY for male.

Examiner insight

A full-mark answer for a sex determination question requires a correctly drawn Punnett square showing parental genotypes, gametes, and all possible offspring genotypes with their corresponding probabilities or ratios.

Common pitfall

Incorrectly stating that the mother determines the sex of the child. It is always the father's sperm (carrying either an X or a Y) that determines the sex.

Worked example 14 marks

Use a genetic diagram or Punnett square to show how sex is determined in humans, and state the probability of producing a female child.

  1. 1

    Parental Phenotype: Male x Female

  2. 2

    Parental Genotype: XY x XX

  3. 3

    Gametes: Male produces sperm with X or Y. Female produces eggs with X.

  4. 4

    Draw a Punnett square. Top: X, Y (from male). Side: X, X (from female).

  5. 5

    Fill in the squares: Top-left = XX, Top-right = XY, Bottom-left = XX, Bottom-right = XY.

  6. 6

    Offspring Genotypes: XX and XY.

  7. 7

    Offspring Phenotypes: Female (XX) and Male (XY). The ratio is 2 XX : 2 XY, which simplifies to 1:1.

  8. 8

    The probability of producing a female child (XX) is 2 out of 4, or 50% (0.5).

Recap

  • Humans have 23 pairs of chromosomes.
  • The 23rd pair are the sex chromosomes: XX for females, XY for males.
  • Females produce eggs containing an X chromosome.
  • Males produce sperm containing either an X or a Y chromosome.
  • The sperm that fertilises the egg determines the sex of the offspring.
  • There is a 50% probability of having a male (XY) and a 50% probability of having a female (XX).

Quick check

  1. What is the genotype of a human male for the sex chromosomes?1 mark
  2. Which parent determines the sex of a baby? Explain why.2 marks

End-of-chapter exercise

Test yourself on the whole chapter. Work through these before moving on.

  1. Define the terms 'gene' and 'chromosome'.2 marks
  2. State the complementary base-pairing rule for DNA.2 marks
  3. Describe the structure of a DNA molecule. You may draw a labelled diagram to support your answer.4 marks
  4. Explain, in as much detail as you can, how the information in a gene is used to produce a protein.5 marks
  5. Distinguish between the terms 'homozygous' and 'heterozygous'.2 marks
  6. A man and his partner are expecting their first child. Construct a Punnett square to determine the probability that the child will be a boy.4 marks
  7. A mutation in a gene causes one base to be substituted for another. Explain the range of possible effects this single change could have on the protein produced.5 marks
  8. All body cells in an individual contain the same genes. However, a muscle cell and a skin cell are structurally and functionally very different. Explain this observation.3 marks
  9. Haemoglobin is a protein found in red blood cells. Describe the role of haemoglobin and explain why its specific shape is essential for its function.4 marks
  10. The sequence of bases on one strand of DNA is G-G-T-A-C-T-G. What is the sequence of bases on the complementary strand?1 mark

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