UPSC MainsZOOLOGY-PAPER-II202415 Marks
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Q13.

What is Hardy-Weinberg law? How is gene frequency changed by mutation and genetic drift in populations?

How to Approach

This question requires a detailed understanding of population genetics. The answer should begin by clearly defining the Hardy-Weinberg law and its underlying assumptions. Subsequently, it should explain how mutation and genetic drift disrupt the equilibrium established by the law, altering gene frequencies. Focus on the mechanisms by which these evolutionary forces operate and provide examples to illustrate their effects. A structured approach, dividing the answer into sections for each component, will enhance clarity and comprehensiveness.

Model Answer

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Introduction

The Hardy-Weinberg law, formulated independently by G.H. Hardy and Wilhelm Weinberg in 1908, is a fundamental principle in population genetics. It describes the conditions under which allele and genotype frequencies in a population will remain constant from generation to generation. This equilibrium, however, is rarely observed in natural populations due to various evolutionary forces. Among these, mutation and genetic drift play significant roles in altering gene frequencies, leading to evolutionary change. Understanding these mechanisms is crucial for comprehending the dynamics of genetic variation within populations and the process of evolution itself.

The Hardy-Weinberg Law

The Hardy-Weinberg law states that in a large, randomly mating population, the allele and genotype frequencies will remain constant from generation to generation in the absence of certain evolutionary influences. These influences include mutation, gene flow, genetic drift, non-random mating, and natural selection. The law is mathematically expressed as:

p2 + 2pq + q2 = 1

Where:

  • p = frequency of the dominant allele
  • q = frequency of the recessive allele
  • p2 = frequency of the homozygous dominant genotype
  • 2pq = frequency of the heterozygous genotype
  • q2 = frequency of the homozygous recessive genotype

The law is based on several key assumptions: no mutation, random mating, no gene flow, no genetic drift, and no natural selection. When these assumptions are met, the population is said to be in Hardy-Weinberg equilibrium.

Mutation and Gene Frequency Change

Mutation is the ultimate source of all genetic variation. It refers to a change in the DNA sequence. While the mutation rate is generally low, it continuously introduces new alleles into the population.

  • Mechanism: Mutations can be spontaneous or induced by mutagens. They can be beneficial, neutral, or harmful. Beneficial mutations are rare but can increase in frequency through natural selection.
  • Impact on Gene Frequency: Mutations directly alter allele frequencies. For example, if a mutation converts allele A to allele a, the frequency of allele a will increase, and the frequency of allele A will decrease. The magnitude of the change depends on the mutation rate and the selective pressure acting on the alleles.
  • Example: Sickle cell anemia is caused by a mutation in the beta-globin gene. While homozygous individuals (HbS HbS) suffer from the disease, heterozygous individuals (HbA HbS) have increased resistance to malaria. This selective advantage has led to a higher frequency of the sickle cell allele in regions where malaria is prevalent.

Genetic Drift and Gene Frequency Change

Genetic drift is the random fluctuation of allele frequencies due to chance events. It is particularly significant in small populations.

  • Mechanism: Random events, such as natural disasters, founder effects, and bottleneck effects, can drastically alter allele frequencies. In small populations, alleles can be lost or fixed (reach a frequency of 1.0) simply by chance.
  • Types of Genetic Drift:
    • Founder Effect: Occurs when a small group of individuals establishes a new population, carrying only a subset of the original population's genetic diversity.
    • Bottleneck Effect: Occurs when a population undergoes a drastic reduction in size, resulting in a loss of genetic diversity.
  • Impact on Gene Frequency: Genetic drift leads to a loss of genetic variation within a population and can cause significant differences in allele frequencies between populations. It does not necessarily lead to adaptation, as the changes are random.
  • Example: The Amish population in Pennsylvania exhibits a high frequency of certain rare genetic disorders, such as Ellis-van Creveld syndrome, due to the founder effect. The original settlers carried a higher frequency of the recessive allele responsible for the disorder, and this frequency has remained high within the isolated community.
Feature Mutation Genetic Drift
Source of Change Alteration of DNA sequence Random chance events
Population Size Impact Affects all populations, but impact is slower More pronounced in small populations
Direction of Change Can be directional (if selection is involved) Random; can lead to loss or fixation of alleles
Effect on Genetic Variation Introduces new genetic variation Reduces genetic variation within a population

Conclusion

In conclusion, the Hardy-Weinberg law provides a baseline for understanding how populations maintain genetic stability. However, real-world populations are rarely in equilibrium due to the constant action of evolutionary forces like mutation and genetic drift. Mutation introduces new genetic variation, while genetic drift causes random fluctuations in allele frequencies, particularly in small populations. These processes, alongside natural selection, gene flow, and non-random mating, drive the evolutionary changes observed in living organisms. Understanding these mechanisms is fundamental to comprehending the diversity of life on Earth and the processes that shape it.

Answer Length

This is a comprehensive model answer for learning purposes and may exceed the word limit. In the exam, always adhere to the prescribed word count.

Additional Resources

Key Definitions

Allele Frequency
The proportion of a specific allele at a particular locus in a population.
Genetic Variation
The differences in DNA sequences between individuals within a population.

Key Statistics

The average mutation rate in humans is estimated to be around 1.1 x 10<sup>-8</sup> per base pair per generation.

Source: National Human Genome Research Institute (NHGRI) (as of 2023 knowledge cutoff)

Studies suggest that approximately 60-80% of human genetic variation is found within populations, while only 10-20% is found between populations.

Source: Lewontin, R. C. (1972). The genetic basis of population structure.

Examples

Northern Elephant Seals

The Northern Elephant Seal population experienced a severe bottleneck in the late 19th century due to overhunting, reducing the population size to as few as 20 individuals. This resulted in a significant loss of genetic diversity, and modern elephant seals exhibit very low levels of genetic variation.

Frequently Asked Questions

Does the Hardy-Weinberg law imply that evolution never occurs?

No, the Hardy-Weinberg law describes conditions *under which* evolution does not occur. It serves as a null hypothesis to test whether evolutionary forces are acting on a population. If a population deviates from Hardy-Weinberg equilibrium, it indicates that evolution is taking place.

Topics Covered

BiologyGeneticsPopulation GeneticsEvolutionInheritance