3.

1 Genetics
Essential Idea: Every living organism inherits a blueprint for life
from its parents.

-Genetics is the study of inheritance and variation.

-chromosomes control inherited characteristics
-they hold the blueprint for the organization and activities of cells in the
form of genes

Genes
-Genes are involved in the continuous control of cell activity and
reproduction
-they carry instructions from one generation to the next
-they can be defined in various ways:

Specific region of a chromosome which is capable of determining the

development of a specific characteristic of an organism
Specific length of the DNA double helix, hundreds/thousands of base
pairs long
A unit of inheritance

-A particular gene always occurs on the same chromosome in the same

position
-a position of a gene is called a locus
-each gene has 2 or more forms, called alleles

Alleles
-Since alleles are alternative forms of the same gene,, they occupy the same
position on one type of chromosome
-only 1 allele can occupy the locus of a gene on a chromosome
-eg: fur colour of mice caused by one gene

Mutations

-A mutation is a permanent change in the DNA sequence that makes up a

gene
-they can range in size, from a single base to a large segment of a
chromosome
-Mutations can be inherited or acquired

Point Mutations:
-These mutations subtracts, adds, or deletes a nucleotide with a gene
-This alters the 3 nucleotides that make up an individual codon
-Changing a nucleotide can have a few effects
-silent mutation:

Since multiple codons can code for the same amino acid, the amino
acid remains the same

-missense mutation:

A change in the DNA sequence results in a codon for a different amino

acid

-nonsense mutation:

A codon is changed into a stop codon, causing early termination of

translation

-frameshift mutation:

When a nucleotide is deleted or inserted into the DNA sequence, the

way that the sequence is read gets shifted

Sickle Cell Anemia

-Caused by one base substitution mutation
-GAG becomes GTG in DNA
-Normal hemoglobin (HBA) is replaced by sickle cell hemoglobin (HBS)
-At low oxygen, HBS becomes crystallized, changing the shape of the red
blood cell
-red blood cells become crystallized, changing the shape of the red blood
cell

-red blood cells are sickle shaped, and can get stuck in capillaries

Sickle Cell Alleles:

Normal: HBA Sickle: HBS
Normal Genes: HBA HBA
Sickle cell disease: HBS HBS
Heterozygous: HBA HBS

-Homozygous genes are susceptible to malaria

-Heterozygous genes carry a copy of the sickle cell allele, but the individual
survives and is less likely to become ill and die from malaria

Genome
-A genome is the whole genetic information of an organism
-Genomics is the science that aims to decipher and understand the entire
genetic information of an organism
-this includes DNA and corresponding complements such as RNA, proteins,
and metabolites
-Broadly speaking, the definition includes related disciplines, such as
epigenomics, metabolomics, and nutrigenomics

Human Genome Project:

-This project has the ultimate goal of identifying and locating the position of
all genes in the human body
-The information will be stored in databases for analysis
-There are 3 main outcomes of sequencing the entire human genome:
1. Sequencing of the entire human genome leads to the production of
gene probes to detect specific genetic diseases
2. Develop pharmaceuticals based on DNA sequence
3. Better understanding of human development

Biotechnology:
-When genes are transferred between species (compared) the amino acid
sequence of polypeptides translated from them is unchanging because the
genetic code is universal
-Basic Local Alignment Search Tool (BLAST) is used to compare biological
sequence information
-eg: amino acid of protein sequences