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AQA GCSE Biology Notes

6.9.6 Sources of Genetic Variation

Genetic variation is essential for the survival and evolution of species. It contributes to a population's ability to adapt to changing environments and underpins the rich diversity of life we observe. This comprehensive exploration will focus on four key mechanisms that drive genetic variation: mutation, meiosis, random mating, and fertilisation.

Mutation: The Primary Source of Genetic Novelty

Mutation is the alteration of the DNA sequence in an organism’s genome. It is a fundamental process, introducing new genetic material into a population's gene pool.

Types of Mutations

Point Mutations

  • Single nucleotide polymorphisms (SNPs): These are the most basic form of genetic variation, involving a change of a single nucleotide.
  • Insertions and deletions (indels): These can have more significant effects, potentially causing a shift in the reading frame of genes (frameshift mutations).
Frameshift mutations

Image courtesy of CNX OpenStax

Chromosomal Mutations

  • Duplications: Replication of a segment of a chromosome, leading to multiple copies of that segment.
  • Deletions: Loss of a chromosome segment.
  • Inversions: A segment of a chromosome is reversed end to end.
  • Translocations: A segment of one chromosome is transferred to another chromosome.
Chromosomal Mutations, Inversions, translocations, deletions, and duplications.

Image courtesy of Olha

Causes of Mutation

  • Spontaneous mutations: Arise naturally, often during DNA replication or due to structural instabilities in DNA sequences.
  • Induced mutations: Result from external factors, such as ultraviolet radiation, chemicals, and viruses, which can cause changes in DNA structure.

Role in Genetic Variation

Mutations are crucial for evolution, providing the raw material for natural selection. Beneficial mutations can lead to new adaptations, while harmful mutations can be eliminated by natural selection.

Meiosis: Generating Genetic Diversity in Gametes

Meiosis is the process of cell division that reduces the number of chromosomes by half, creating gametes for sexual reproduction. It introduces variability through two key processes: crossing over and independent assortment.

Crossing Over

During prophase I of meiosis, homologous chromosomes pair up and exchange genetic material. This recombination results in chromosomes that are a mix of maternal and paternal genes, increasing the genetic diversity of gametes.

Independent Assortment

During metaphase I, the way in which chromosomes line up is random, meaning the combination of chromosomes that go into the gametes is also random. This randomness contributes to genetic variation.

Crossing over and independent assortment during meiosis

Image courtesy of Christinelmiller

Random Mating: Enhancing Genetic Mixing

Random mating refers to the selection of mates without any preference for genetic makeup. This lack of selection ensures genetic diversity is maintained in a population.

Impact on Genetic Diversity

  • Genetic mixing: Random mating ensures a mix of different alleles in the offspring.
  • Prevention of inbreeding depression: By avoiding mating between closely related individuals, the risk of concentrating harmful recessive alleles is reduced.

Fertilisation: Combining Genetic Material

Fertilisation is the process where male and female gametes, each containing half the number of chromosomes of normal cells, combine to form a zygote.

Fusion of Gametes

Each gamete contributes a unique set of alleles, ensuring that each offspring has a unique genetic makeup. This uniqueness is a result of the combined effects of mutation, meiosis, and the random nature of fertilisation.

Human fertilization- fusion of egg and sperm

Image courtesy of inviTRA

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Role in Population Diversity

The random fusion of gametes from different individuals further increases the genetic variability within a population, which is essential for the adaptability and resilience of species.

In conclusion, mutation, meiosis, random mating, and fertilisation are pivotal processes that contribute to genetic variation in populations. They work in tandem to ensure that each generation has a unique genetic composition, enabling populations to adapt and evolve in response to environmental pressures. This genetic diversity is the bedrock of biodiversity and a key factor in the survival of species on Earth. Understanding these processes provides a foundational insight into the mechanisms of evolution and the continuous shaping of life on our planet.

FAQ

Genetic variation is vital in changing environments because it provides the raw material for natural selection. Populations with greater genetic diversity have a wider range of traits, increasing the likelihood that some individuals possess characteristics that confer a survival advantage in new environmental conditions. For instance, if a population faces a new disease, individuals with genetic resistance are more likely to survive and reproduce, passing on their advantageous genes. Over time, these traits become more common in the population, leading to evolution. In contrast, populations with low genetic variation may not have individuals with the necessary traits to survive under changed conditions, leading to a decline or even extinction.

Genetic drift is a random process that can cause changes in the frequency of alleles within a population. It is most significant in small populations, where chance events can lead to large changes in allele frequencies from one generation to the next. For instance, if a few individuals with a rare allele reproduce more than others, that allele's frequency can increase in the population. Conversely, a rare allele can be lost completely if those carrying it do not reproduce. Genetic drift can reduce genetic variation in small populations and can lead to population differentiation if different populations experience different patterns of drift. This process plays a crucial role in evolution, particularly in isolated populations, by randomly altering the genetic structure of these populations.

The study of genetic variation is fundamental to advances in medicine and agriculture. In medicine, understanding genetic variation allows for the development of personalized treatments, as individuals respond differently to medications based on their genetic makeup. It also aids in understanding the genetic basis of diseases, leading to more effective treatments and prevention strategies. In agriculture, knowledge of genetic variation is used to breed crops and livestock with desirable traits, such as disease resistance, drought tolerance, or improved nutritional content. This selective breeding relies on the availability of genetic diversity to produce organisms that are better suited to changing environmental conditions or human needs. Therefore, the study of genetic variation is crucial for innovation and adaptation in both fields.

Mutations can only be passed on to the next generation if they occur in the germ cells (sperm or eggs). Mutations in somatic (body) cells are not heritable. This distinction is crucial in understanding genetic variation. Germ cell mutations are significant as they contribute to the genetic diversity of a population. Somatic mutations, while they can have significant effects on an individual (such as causing cancer), do not influence the genetic makeup of future generations. The heritability of germ cell mutations underpins evolution and natural selection, as these mutations provide the raw material for potentially advantageous traits to be passed on and selected for.

Environmental factors can significantly influence mutation rates in populations. Mutagens, which are agents that cause mutations, include physical factors like ultraviolet (UV) radiation from the sun and chemical agents like pollutants or cigarette smoke. For example, UV radiation can cause thymine dimers in DNA, leading to skin cancers. Chemical mutagens can alter the structure of DNA, causing errors during DNA replication. Additionally, some viruses can integrate their genetic material into the host genome, potentially disrupting normal gene function. While most mutations are neutral or harmful, in rare cases, they can confer a survival advantage, especially in changing environments. Over time, these advantageous mutations can spread through the population, contributing to evolution. Thus, environmental factors can accelerate the rate of genetic variation and evolutionary change in populations.

Practice Questions

Explain how meiosis contributes to genetic variation in sexually reproducing organisms.

Meiosis significantly contributes to genetic variation through two main processes: crossing over and independent assortment. During prophase I of meiosis, homologous chromosomes pair up and exchange segments of genetic material in a process called crossing over. This results in new combinations of alleles on each chromosome. Additionally, during metaphase I, the arrangement of homologous chromosomes at the equator is random, known as independent assortment. This randomness in the distribution of chromosomes to gametes ensures that each gamete contains a unique set of genetic information. Together, these processes ensure that each gamete, and therefore each offspring, is genetically unique, contributing to the genetic diversity of a population.

Describe how random mating contributes to genetic variation within a population.

Random mating plays a crucial role in maintaining genetic variation within a population. It involves individuals pairing without preference for particular genetic traits, which ensures a random mix of different alleles in the offspring. This randomness prevents inbreeding, where closely related individuals mate, which can lead to inbreeding depression where harmful recessive traits become more common. By promoting the mixing of a wide range of alleles, random mating increases the genetic diversity within a population. This diversity is essential for the health and adaptability of the population, as it enhances the likelihood of individuals possessing varied combinations of alleles, some of which may be beneficial in changing environmental conditions.

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