Assignment: Exploring Genetic Variation in Human Physiology

This assignment provides an overview of genetic variation, detailing its significance and the mechanisms that contribute to it. It explores the sources of genetic variation, including mutations, recombination, and gene flow, explaining how these processes introduce diversity within populations. The assignment further examines the impact of genetic variation on human physiology and pharmacological responses, highlighting how differences in genes can influence traits, disease susceptibility, and the effectiveness of medications. The assignment also touches upon the significance of mating patterns such as inbreeding and outbreeding. The solution provides a comprehensive understanding of these concepts, offering insights into the underlying principles of genetics and its implications for human health and evolution. The assignment is available on Desklib, a platform offering AI-powered study tools for students.

Genetic Variation
Introduction
Genetic variation can be defined as the difference in the sequence of DNA between the
individuals within a population. Differences in DNA occur in germ cells which are egg and
sperm. Apart from this, variation also occurs in somatic cells or all other cells. But it is important
to understand that the only variation which arises in germ cell is inherited to one individual from
another individual. It affects the population dynamics as well as ultimately evolution. Genetic
variation arises due to the genetic mutation. It should also be noted that genetic variation is
important because it helps in providing the diversity between as well as within the populations
which are required for natural selection. Sometimes, people get confused between genetic
variation and genetic diversity and use them interchangeably. But genetic diversity is different
from genetic variation. It is the genetic variation of the entire species. The differences in genes
allow survival as well as flexibility of a population in the face of changing environmental
conditions or circumstances. Therefore, differences in genes are often considered an advantage
because it is a type of preparation for the unexpected.
The mating pattern is very important. Random mating can sometimes occur when a population
interbreeds because based on certain traits one organism selects to mate with another. In such
cases, people within a population make particular behavioral choices. These behavioral choices
shape the genetic combinations which appear in succeeding generation. There are two major
form of nonrandom mating. So, it is said that nonrandom mating can occur in two forms such as
inbreeding as well as outbreeding. Inbreeding mating occurs when people with same or similar
genotypes are likely to mate with each other apart from with the people with different genotypes.

On the other hand, outbreeding mating occurs when people with a particular genotype mate with
the people of another specific genotype. Inbreeding may lead to decrease in the variation in
genes while outbreeding may lead to an increase.
Sources of Variations
There are two major sources of variations in genes such as mutations and recombination.
Mutation: the original source of genetic variation is mutation. Mutation can be defined as the
permanent alteration to the sequence of a DNA. Due to an error at the time of DNA replication
which is not corrected by DNA a new mutation occur. The DNA replication copies the error only
once and fixes in the DNA which is considered to be a mutation. Mutations can be beneficial,
deleterious, as well as neutral to the organism. Somatic mutations are mostly harmless which can
be accumulated in our cells. Somatic mutation can lead to local changes in tissues. For example,
moles appear on the skin. It can have more serious effect as well. For example, it can lead to
cancer as well which is one of the most serious diseases.
Recombination
Recombination is also one of the major sources of genetic variations. Every individual is a
mixture of different genetic materials from parents. During recombination the mixing of genetic
material occur when homologous DNA stands cross over as well as align. Recombination
shuffles paternal as well as maternal DNA effectively which ultimately creates new
combinations of variants in the germ-cells of daughter.
Gene flow

Apart from mutation and recombination, gene flow is also a major source of variations in genes.
As new individuals with different combinations of genes migrate into a population, it leads to
genetic variation. Sexual reproduction also promotes variable gene combination in a population
which leads to variation in genes. Some of the examples of genetic variations are the following;
eye color, camouflage in animals, blood type, as well as modification of leaf in plants.
Impact of genetic variation on human physiology as well as pharmacological response