Lecture 1
Introduction to Genetics
What is Genetics
• Genetics is the study of heredity
• Hereditary is the transmission of characteristics from one generation to the
next…
Genetics branches:
• Medical genetics refers to the application of genetics to medical care.
• Cytogenetics:
• Molecular genetics:
• Microbial genetics:
• Plant genetics
• Animal genetics
• Genomics
• Proteomics
The Cell
• The cell is the basic unit of organization of Life.
• All living organisms are composed of one or more cells
Components of the cell:
1. Cell membrane:
• Composed of lipid bilayer
• Protects the interior of the cell but remains selectively permeable
• Has embedded proteins that serve different functions
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Cytoplasm is substance of a cell other than that nucleus. It`s environment of
cellular activities, it`s made up of:
• Cytosol: Homogenous& Semi fluid which is include Cytoskeleton, organic and
inorganic materials (water, salts… etc)
• Organelles
• Ribosomes: Ribosomes are the site of protein synthesis
• Endoplasmic reticulum: (rough and smooth)
• Mitochondria: Involved in energy production
• Golgi apparatus: Responsible for the secretion of cellular products.
• Lysosomes: involved in the degradation and disposal of cellular waste
material.
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• Containing the hereditary material in the form of chromosomes
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• Nuclear envelope: Separates the nucleus from the cytoplasm but still
allows communication through nuclear pores
• Nucleolus: Darkly staining area in the nucleus.
Components of the cell:
1. Nucleolus
2. Nucleus
3. Ribosome
4. Vesicle
5. Rough endoplasmic reticulum
6. Golgi apparatus
7. Cytoskeleton
8. Smooth endoplasmic reticulum
9. Mitochondrion
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Genome
• A genome is all the genetic information of an individual.
• Each cell in the body contains the complete genome.
• Human genome:
• Consists of approximately three billion DNA base pairs
• Organized IN 23 PAIRS OF CHROMOSMES:
• 22 autosomes pairs
• One sex chromosomes pair
Human genome
Human
• Nuclear genome: Genome
• 23 pair of chromosomes
• Mitochondrial genome
• Single circular double-stranded DNA Nuclear Mitochondrial
Genome genome
3300 Mb 16.6 kb
Proteins:
• Proteins are large biological molecules consisting of one or more polypeptides.
• A polypeptide is a single linear polymer chain of amino acids bonded together
by peptide bonds.
• Proteins differ from one another primarily in their sequence of amino acids,
which is dictated by the nucleotide sequence of their genes
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DNA
• Deoxyribo Nucleic Acid
• The genetic information is stored in DNA
• DNA is a long linear polymer made of simpler units called nucleotides.
Chromosomes
• DNA is packaged in the cells in the form of chromosomes.
• Each chromosome is Made of a single DNA double helix molecule and
associated proteins.
• The packaging of DNA into chromosomes involves several orders of DNA
coiling and folding. This allows the very long DNA molecules to fit into the cell
nucleus.
• Human somatic cells has 23 chromosome
pairs per cell
• 22 pair of autosomes
• 2 sex chromosomes
• In males XY
• In females XX
GENE:
• The basic unit of inheritance.
• A section of DNA that occupies a specific location on a chromosome and codes
for a protein product.
• Each gene codes for one protein.
Allele
• Allele: Different versions of the same gene are called alleles.
• A gene may have many possible alleles, but any one person will have only two
alleles for each gene (one from each parent).
• Homozygous: When an individual's two alleles for a gene are the same, he or
she is said to be homozygous for that gene.
• Heterozygous : When an individual's two alleles for a gene are different, he or
she is said to be heterozygous for that gene.
Central Dogma of Genetics
• DNA RNA Proteins
Traits:
• In genetics, a feature of a living thing is called a "trait".
• Examples
• person's eye-color, height or weight.
• Blood group
Genotype
• Genotype is the genetic make-up of an individual organism.
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• All of the alleles found in an individual
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Phenotype
Phenotype is the observable physical or biochemical characteristics of an individual
organism.
Example
• Gene for eye color has two alleles:
• B = brown eyes
• b = blue eyes
• Each individual has two alleles from two parents
Genetic Terms:
Use library resources to define the following words and write their definitions
using your own words.
– allele:
– genes:
– dominant :
– recessive:
– homozygous:
– heterozygous:
– genotype:
– phenotype:
– Mendelian Inheritance:
Mendelian Inheritance:
1. The inherited traits are determined by genes that are passed from parents to
children.
2. A child inherits two sets of genes—one from each parent.
3. A trait may not be observable, but its gene can be passed to the next
generation.
4. Each person has 2 copies of every gene—one copy from mom and a second
copy from dad. These copies may come in different variations, known as
alleles, that express different traits.
• For example, 2 alleles in the gene for freckles are inherited from mom and
dad:
• allele from mom = has freckles (F)
• allele from dad = no freckles (f)
• child has the inherited gene pair of alleles, Ff (F allele from mom and f
allele from dad).
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