Principles of
Genetics
1. INTRODUCTION
1.1 Historical overviews of genetics
1.2 The nucleic acids overviews
Historical overviews of genetics
What is Genetics?
• GENETICS – Study of biologically inherited traits
including traits that are partly influenced by the
environment.
• Genetics defined as the study of heredity and variation
in living organism
• Heredity is sum of all biological processes by which
particular characteristics transmitted from parents to
their offspring.
• GENES – Elements of heredity that are transmitted from
parents to offspring's in reproduction. These are
inherited traits.
Genetics…
• Each organism has its own “GeneticBlueprint” that
makes it different from others.
• The genetic information is stored as discrete
instructions called “genes”.
• Their existence was first inferred by Gregor Mendel in
1866
• This information is stored in the chromosomes
located in the nucleus.
Traits
• Genetics – study of how traits are passed from parent
to offspring
• Traits are determined by the genes on the
chromosomes. A gene is a segment of DNA that
determines a trait.
• Chromosomes come in homologous pairs, thus genes
come in pairs.
Homologous pairs – matching genes – one from female
parent and one from male parent
• Example: Humans have 46 chromosomes or 23 pairs.
One set from dad – 23 in sperm
One set from mom – 23 in egg
• One pair of Homologous Chromosomes:
Gene for eye color
(blue eyes)
Homologous pair
of chromosomes
Gene for eye color
(brown eyes)
Alleles – different genes (possibilities) for the same trait –
ex: blue eyes or brown eyes
Dominant and Recessive Genes
• Gene that prevents the other gene from “showing” –
dominant
• Gene that does NOT “show” even though it is present –
recessive
• Symbol – Dominant gene – upper case letter – T
Recessive gene – lower case letter – t
Recessive
Dominant
color
color
What is Inheritance?
• Every living thing has a set
of characteristics inherited
from its parent or parents.
• Genetics is the scientific
study of heredity.
Mid 1800’s Discoveries
• Three major events in the mid-1800’s led directly to the
development of modern genetics.
• 1859: Charles Darwin publishes The Origin of Species, which
describes the theory of evolution by natural selection. This
theory requires heredity to work.
• 1866: Gregor Mendel publishes Experiments in Plant
Hybridization, which lays out the basic theory of genetics. It is
widely ignored until 1900.
• 1871: Friedrich Miescher isolates “nucleic acid” from pus cells.
Major Events in the 20th Century
• 1900: rediscovery of Mendel’s work by Robert Correns, Hugo de Vries,
and Erich von Tschermak .
• 1902: Archibald Garrod discovers that alkaptonuria, a human disease,
has a genetic basis.
• 1904: Gregory Bateson discovers linkage between genes. Also coins the
word “genetics”.
• 1910: Thomas Hunt Morgan proves that genes are located on the
chromosomes (using Drosophila).
• 1918: R. A. Fisher begins the study of quantitative genetics by
partitioning phenotypic variance into a genetic and an environmental
component.
More 20th Century Events
• 1926: Hermann J. Muller shows that X-rays induce mutations.
• 1944: Oswald Avery, Colin MacLeod and Maclyn McCarty show that DNA
can transform bacteria, demonstrating that DNA is the hereditary material.
• 1953: James Watson and Francis Crick determine the structure of the DNA
molecule, which leads directly to knowledge of how it replicates
• 1966: Marshall Nirenberg solves the genetic code, showing that 3 DNA
bases code for one amino acid.
• 1972: Stanley Cohen and Herbert Boyer combine DNA from two different
species in vitro, then transform it into bacterial cells: first DNA cloning.
• 2001: Sequence of the entire human genome is announced.
Molecular Reality (current view)
• (Almost) all inheritance is based on DNA: the sequence of ACGT
nucleotides encodes all instructions needed to build and maintain an
organism.
• A chromosome is a single DNA molecule together with other
molecules (proteins and RNA) needed to support and read the DNA.
• A gene is a specific region of a chromosome that codes for a single
polypeptide (linear chain of amino acids).
• Proteins are composed of one or more polypeptides, plus in some
cases other small helper molecules (co-factors). Proteins do most of
the work of the cell.
Summery of major historical genetic events
Classification of Genetics
I-Classical Genetics
– Mendelian genetics
• Fundamental principles underlying transmission of genetic traits
– Forward genetics
• Identify or generate phenotypically mutant organisms
• Determine mode of inheritance and interactions with other
mutants
• Identify mutated gene(s)
• Correlate observed phenotype with biochemical mechanisms
Classification of Genetics, continued…
II-Molecular Genetics
– Based on classical approaches
• Refers to techniques applied to study genetic questions
• Most modern genetic studies are molecular
– Reverse genetics
• Genes identified 1st
• Gene mutated by molecular biology techniques
• Mutant gene inserted into genome of organism and
resulting phenotype studied
Classification of Genetics, continued…
III-Evolutionary genetics
- Focused on mechanism of evolutionary changes
- Change of gene frequencies in population over time.
- Charles Darwin, famous in the area of evolutionary
genetics
Classical Molecular Evolutionary
Genetics Genetics Genetics
Mendel’s Structure of Evolution
principle DNA
Mitosis and Transcription Speciation
meiosis and translation
Sex DNA cloning Etc…
determination
Cytogenesis… DNA mutation..
Medical genetics
Medical genetics is a branch of genetics focused on
the study of
• The inheritance of disease genes in families
• Mapping of disease genes to specific locations on the
chromosomes
• Analysis of the molecular mechanism through which
genes cause disease
• The diagnosis and treatment of genetic diseases, and
also
• Communication of information regarding , the risk of
genetic diseases, prognosis, and treatment of patients
and their families.
THE NUCLEIC ACID OVERVIEWS
NUCLEIC ACIDS
OCCURRENCE
In all mammalian cells including humans.
They are DNA and RNA
DNA is present in nucleus and mitochondria.
RNA is present in nucleus and cytoplasm.
Nucleic acids are also present in bacteria, viruses and
plants.
MEDICAL AND BIOLOGICAL IMPORTANCE
1. Nucleic acids serve as genetic material of living
organisms.
2. Nucleic acids are involved in the storage, transfer
and expression of genetic information.
3. Nucleic acids contain all the necessary information
required for the formation of individual or
organism.
4. Nucleic acids determines physical fitness of an
individual to life.
5. Some nucleic acids acts as enzymes and coenzymes.
Chemical nature of nucleic acids
Nucleic acids are acidic substances containing
Nitrogenous bases,
Sugar and phosphorus.
Both DNA and RNA are polynucleotides.
They are polymers of nucleotides.
Phosphodiester linkage
In polynucleotides, nucleotides are joined together by
phosphodiester linkage. Diester linkage of phosphate joins 3' OH and
5' OH belonging two separate sugars
Nitrogenous bases
Nitrogenous bases
Pentose Sugar
Phosphoric Acid
DNA
• The genetic material in living organisms is
deoxyribonucleic acid (DNA)
• DNA Stores the Information for Protein Synthesis
• DNA encodes the information required to synthesize all
cellular proteins
• It is able to do so because of its molecular structure
DNA is a polymer of nucleotides
Each nucleotide contains one nitrogenous base
Adenine (A),Thymine (T),Cytosine (C) &Guanine (G)
The genetic information is stored in the linear sequence of
these bases along the DNA molecule
Information in DNA sequence is the genome (the collection of
genetic information)
For example:
ATG GGC CTT AGC DNA Sequence
Met Gly Leu Ser Protein Sequence, result in gene expression
TTT AAG CTT GCC DNA Sequence
Phe Lys Leu Ala Protein Sequence
Base-pairing and strand interactions
C-G have three hydrogen bonds (slightly stronger matching)
A-T have two hydrogen bonds (slightly weaker matching)
Two Hydrogen Bonds Three Hydrogen Bonds
Base Pairing G -- C
Base Pairing A -- T complementary
complementary
Anti-Parallel
...DNA is a double stranded molecule and
orients in an anti-parallel fashion,
…orientation is in reference to the phosphodiester bonds.
The back bone of the strands of nucleic acid
Genetic Concepts
condensed chromosome
• Chromosome –
– double stranded DNA
molecule packaged by
histone & scaffold proteins
30nm fiber
DNA double helix nucleosome
Chromosomes
Long Polymers
Hydrogen Bonds
Double Helix
Genetic Concepts
• Chromosome numbers
– Constant for an organism
– n - haploid number
– 2n – diploid number
• Karyotype
The appearance of the
chromosomal make up of
a somatic cell in an
individual species
Genetic Concepts
Y
Genetic Concepts
• Chromosome numbers
– Each individual inherits n # of chromosomes from
dad & n # from mom
– Humans - 46 chromosomes = 2n
– Humans 23 paternal, 23 maternal
– Humans n = 23
– Each maternal & paternal pair represent
homologous chromosomes - called homologs
Genetic Concepts
1 2 3 4 5 6 7 8 1 2 3 4 5 6 7 8
9 10 11 12 13 14 15 16 9 10 11 12 13 14 15 16
17 18 19 20 21 22 XX 17 18 19 20 21 22 X
(a) Chromosomal composition found (b) Chromosomal composition
in most female human cells found in a human gamete
(46 chromosomes) (23 chromosomes)
Diploid Haploid
Genetic Concepts
• Homologous Chromosomes
– Share centromere position
– Share overall size
– Contain identical gene sets at matching positions (loci)
gene for color
gene for shape
Genetic Concepts
• Gene – sequence of DNA which is transcribed
into RNA
– rRNA, tRNA or mRNA
• Locus – the position on a chromosome of a
particular DNA sequence (gene)
G Locus – gene for color
W Locus – gene for shape
Genetic Concepts
• DNA is mutable
• A variation in DNA sequence at a locus is
called an allele
– Diploid organisms contain 2 alleles of each locus
(gene)
• Alleles can be identical – homozygous
• Alleles can be different – heterozygous
• If only one allele is present – hemizygous
– Case in males for genes on X and Y chromosomes
Genetic Concepts
Allele – G vs g; W vs w
At the G locus either the G or g allele may be present on a given
homologue of a homologous pair of chromosomes
Genetic Concepts
• Genome
– Collection of all genetic material of organism
• Genotype
– Set of alleles present in the genome of an organism
• Phenotype
– Result of Gene Expression
– Genes (DNA) are transcribed into RNA
– mRNA is translated into protein, tRNA & rRNA work in
translation process
– Biochemical properties of proteins, tRNAs & rRNAs
determine physical characteristics of organism
Ribonucleic acids (RNAs)
RNAs are present in nucleus and cytoplasm.
They are involved in the transfer and expression of
genetic information.
They act as primers for DNA formation. Some RNA act
as enzymes as well as coenzymes.
RNA also function as genetic material for viruses.
Chemical nature of ribonucleic
acids
Like DNAs, RNAs are also poly nucleotides.
The sugar present in a RNA is ribose.
There are mainly three types of RNAs in all
prokaryotic and eukaryotic cells.
The three types of RNA are
1. Messenger RNA or m-RNA,
2. Transfer RNA or t-RNA,
3. Ribosmal RNA or r-RNA
They differ from each other by size, function
and stability.
The DNA in living cells is contained within large
structures termed chromosomes
Human cells have a total of 46 chromosomes
o Each chromosome is a complex of DNA and proteins
An average human chromosome contains
More than a 100 million nucleotides
1000-2000 genes
The Information Within the DNA Is Accessed During the Process
of Gene Expression
Gene expression occurs in two steps
Transcription
The genetic information in DNA is copied into a nucleotide
sequence of ribonucleic acid (RNA)
Translation
The nucleotide sequence in RNA is converted (using the genetic
code) into the amino acid sequence of a protein
DNA
Gene
Gene
Expression
Transcription
RNA (messenger RNA)
Translation
Protein
(sequence of
amino acids)
Functioning of proteins within living
cells influences an organism’s traits.