Genetics – basic terms

Chromosomes, genes, alleles and mutations

What are the two DNA and histone proteins
main components
of eukaryotic
chromosomes

Key terms: Define each of the terms below

Gene: A gene is a heritable factor that consists of a length of DNA and influences a specific characteristic

Allele: Alleles are the various specific forms of a gene

Genome: A genome is the whole of the genetic information of an organism

gene mutation: Mutation forms new alleles. They are random changes, like base substitution.

gene locus: The location of a gene in the chromosome

Summarize these processes from topic 3 in simple terms

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© David Faure, InThinking www.thinkib.net/biology 1
Explain

How does a Gene in the Nucleus make a Protein (eg an enzyme) in the Cytoplasm

A gene in the nucleus contains the instructions to make a protein. When the cell needs a protein, the gene's
instructions are copied onto a molecule called messenger RNA (mRNA) through a process called transcription.
This mRNA then leaves the nucleus and enters the cytoplasm. In the cytoplasm, a cellular machine called a
ribosome reads the mRNA instructions and assembles amino acids into the protein specified by the gene.

Explain how a single change in one DNA base can change the structure of a single protein.

A single change in one DNA base, known as a mutation, can alter the structure of a protein because the sequence
of bases in DNA determines the sequence of amino acids in a protein. Each group of three DNA bases codes for
a specific amino acid, so changing one base can change the amino acid that is added to the protein during its
construction.

Explain how a change in the structure of a protein could lead to a disease in humans.

Give an example

A change in the structure of a protein can lead to a disease in humans if the altered protein cannot
perform its normal function, performs it inefficiently, or adopts a harmful function. For example, in
sickle cell anemia, a single amino acid change in the hemoglobin protein causes red blood cells to
assume a sickle shape under low oxygen conditions. These misshapen cells can block blood flow and
lead to pain, organ damage, and increased infection risk. This single amino acid change in the
protein's structure directly impacts the protein's function and the physical characteristics of the red
blood cells, illustrating how structural changes in proteins can have significant consequences for
human health.