6.1.6

Genetic Inheritance

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Mutations

A mutation is a permanent change in the nucleotide sequence of DNA. Mutations happen continuously and normally only slightly affect proteins or don't affect them at all. Occasionally, a mutation may change the structure or shape of a protein. All genetic variants arise from mutations.

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Undesirable change

  • The outcome of a mutation is almost always detrimental to protein function.
  • For example, in enzymes, the substrate may no longer be able to bind to the active site. In structural proteins, their strength may be reduced.
  • Some regions of DNA do not encode protein sequences.
    • The term given to these sections is non-coding DNA.
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Survival advantage

  • More rarely, a mutation may give a survival advantage, such as resistance to an antibiotic in bacteria.
  • These mutations can be beneficial and represent the foundation of evolution by natural selection.

Alleles

Alleles are different forms of the same gene. Humans have pairs of every gene and in one gene, each half of the pair may have different alleles. People's characteristics are determined by the alleles that they have. Alleles can either be dominant or recessive:

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Dominant Alleles

  • A dominant allele is always expressed, regardless of the identity of the other allele.
  • It only needs one copy present to be expressed (BB or Bb).
  • It is represented by a capital letter, e.g. B.
  • If B is the allele for brown eyes:
    • When a person has a copy of the B allele, they will have brown eyes, no matter what other allele is present.
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Recessive Alleles

  • A recessive allele is only expressed if the other allele is also recessive.
  • It is represented by a lowercase letter e.g. b. It needs two copies to be present to be expressed (bb).
  • If b is the allele for blue eyes:
    • A person can only have blue eyes if both of their alleles are b.

Genotype vs Phenotype

When talking about the inheritance of characteristics, we use the words genotype and phenotype:

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Genotype

  • Genotype refers to the combination of alleles an organism has.
    • If the two alleles are different, we say that the person is heterozygous (Bb).
    • If the two alleles are the same, we say that the person is homozygous (BB or bb).
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Phenotype

  • A phenotype is an observed characteristic of an individual.
  • The phenotype is determined by the interaction between the genotype and environment.
  • Earlobes being attached or free is an example of a phenotype, where the alleles present will determine a characteristic, unless the environment interferes.

Jump to other topics

1Cell Biology

2Organisation

2.1Principles of Organisation

2.2Enzymes

2.3Circulatory System

2.4Non-Communicable Diseases

2.5Plant Tissues, Organs & Systems

3Infection & Response

4Bioenergetics

5Homeostasis & Response

6Inheritance, Variation & Evolution

7Ecology

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