Edexcel A (SNAB) A Level Biology:复习笔记2.4.2 Mutations


  • A gene mutation is a change in the sequence of base pairs in a DNA molecule that may result in an altered polypeptide
  • Mutations occur continuously and spontaneously
    • Errors in the DNA often occur during DNA replication
  • As the DNA base sequence determines the sequence of amino acids that make up a protein, mutations in a gene can sometimes lead to a change in the polypeptide that the gene codes for
  • Most mutations do not alter the polypeptide or only alter it slightly so that its structure or function is not changed
    • This is because the genetic code is degenerate
  • There are different ways that a mutation in the DNA base sequence can occur:
    • Insertion
    • Deletion
    • Substitution
    • Duplication
    • Inversion

Insertion of nucleotides

  • A mutation that occurs when a nucleotide is randomly inserted into the DNA sequence is known as an insertion mutation
  • An insertion mutation changes the amino acid that would have been coded for by the original base triplet, as it creates a new, different triplet of bases
    • Remember that every group of three bases in a DNA sequence codes for an amino acid
  • An insertion mutation also has a knock-on effect on other base triplets by changing the triplets further on in the DNA sequence
    • This means that insertion mutations cause what is known as a frameshift mutation; they don't only change the triplet where the insertion has occurred, but every triplet downstream of the insertion
  • This may dramatically change the amino acid sequence produced from this gene and therefore the ability of the polypeptide to function

Insertion mutations occur when a new nucleotide is added into a base sequence

Deletion of nucleotides

  • A mutation that occurs when a nucleotide is randomly deleted from the DNA sequence
  • Like an insertion mutation, a deletion mutation changes the triplet in which the deletion has occurred, and also changes every group of three bases further on in the DNA sequence
    • This is known as a frameshift mutation
  • This may dramatically change the amino acid sequence produced from this gene and therefore the ability of the polypeptide to function

Substitution of nucleotides 

  • A mutation that occurs when a base in the DNA sequence is randomly swapped for a different base
  • Unlike an insertion or deletion mutation, a substitution mutation will only change the amino acid for the triplet in which the mutation occurs; it will not have a knock-on effect elsewhere in the DNA sequence
  • Substitution mutations can take three forms
    • Silent mutations
      • The mutation does not alter the amino acid sequence of the polypeptide; this is due to the degenerate nature of the genetic code
    • Missense mutations
      • The mutation alters a single amino acid in the polypeptide chain, e.g. sickle cell anaemia is caused by a single substitution mutation changing a single amino acid in the sequence
    • Nonsense mutations
      • The mutation creates a premature stop codon, causing the polypeptide chain produced to be incomplete and therefore affecting the final protein structure and function, e.g. cystic fibrosis can be caused by a nonsense mutation
        • Note that a stop codon provides a signal for the cell to stop translation of the mRNA molecule into an amino acid sequence

Substitution mutations involve swapping one nucleotide for another


  • Duplication is a type of mutation that involves the production of one or more copies of a gene or a region of a chromosome
    • A whole gene or section of a gene is duplicated so that two copies of the gene/section appear on the same chromosome
    • The original version of the gene remains intact and therefore the mutation is not harmful
    • Overtime, the second copy can undergo mutations which enable it to develop new functions
  • Gene duplication is an important mechanism by which evolution occurs
  • Gene and chromosome duplications occur in all organisms, though they are more common in plants

In duplication mutations entire genes can be duplicated


  • Inversion mutations usually occur during crossing-over in meiosis
    • The DNA of a single gene is cut in two places
    • The cut portion is inverted 180° then rejoined to the same place within the gene
    • The result is a large section of the gene that is 'backwards' and therefore multiple amino acids are affected
  • Inversion mutations frequently result in a non-functional protein
    • In some cases an entirely different protein is produced
  • The mutation is often harmful because the original gene can no longer be expressed from that chromosome
    • If the other chromosome in the pair carries a working gene the effect of the mutation may be lessened

Inversion mutations result in the reversal of sections of DNA

Cystic Fibrosis

  • Genes can affect the phenotype of an organism
    • A gene codes for a single polypeptide
    • The polypeptide can affect the phenotype, e.g. it could form part of an enzyme or a membrane transport protein
  • Genetic disorders are often caused by a mutation in a gene that results in a differently-functioning or non-functioning protein that alters the phenotype of the individual

Cystic fibrosis

  • Cystic fibrosis is a genetic disorder of cell membranes caused by a recessive allele of the CFTR (Cystic Fibrosis Transmembrane Conductance Regulator) gene located on chromosome 7
    • This gene codes for the production of chloride ion channels required for secretion of sweat, mucus and digestive juices
    • A mutation in the CFTR gene leads to production of non-functional chloride channels
    • This reduces the movement of water by osmosis into the secretions
    • The result is that the body produces large amounts of thick, sticky mucus in the air passages, the digestive tract and the reproductive system
  • There are many mutations in the CFTR gene that can lead to cystic fibrosis
    • The CFTR gene is large and a mutation in any part of the gene can cause cystic fibrosis
    • Around 1000 different mutations that can lead to cystic fibrosis have been identified, though some only occur very rarely
    • All of the mutations that cause cystic fibrosis are recessive
  • Because cystic fibrosis is determined by a recessive allele, this means
    • People who are heterozygous won’t be affected by the disorder but are carriers
    • People must be homozygous recessive in order to have the disorder
    • If both parents are carriers the chance of them producing a child with cystic fibrosis is 1 in 4, or 25 %
    • If only one of the parents is a carrier with the other parent being homozygous dominant, there is no chance of producing a child with cystic fibrosis, as the recessive allele will always be masked by the dominant allele

Cystic fibrosis is a genetic disorder caused by a recessive allele

The respiratory system

  • Mucus in the respiratory system is a necessary part of keeping the lungs healthy
    • It prevents infection by trapping microorganisms
    • This mucus is moved out of the respiratory tract by cilia
  • In people with cystic fibrosis, due to the faulty chloride ion channels, the cilia are unable to move as the mucus is so thick and sticky
  • This means microorganisms are not efficiently removed from the lungs and lung infections occur more frequently
  • Mucus builds up in the lungs and can block airways which limits gas exchange
    • The surface area for gas exchange is reduced which can cause breathing difficulties
  • Physiotherapy can support people with cystic fibrosis to loosen the mucus in the airways and improve gas exchange

The digestive system

  • Thick mucus in the digestive system can cause issues because
    • The tube to the pancreas can become blocked, preventing digestive enzymes from entering the small intestine
      • Digestion of some food may be reduced and therefore key nutrients may not be made available for absorption
    • The mucus can cause cysts to grow in the pancreas which inhibit the production of enzymes, further reducing digestion of key nutrients
    • The lining of the intestines is also coated in thick mucus, inhibiting the absorption of nutrients into the blood

The reproductive system

  • Mucus is normally secreted in the reproductive system to prevent infection and regulate the progress of sperm through the reproductive tract after sexual intercourse
  • The mucus in people with cystic fibrosis can cause issues in both men and women
    • In men the tubes of the testes can become blocked, preventing sperm from reaching the penis
    • In women thickened cervical mucus can prevent sperm reaching the oviduct to fertilise an egg