Basic Genetics
Introduction of genetics
Professor Dr. Md. Rezuanul Islam
Dept. of Biotechnology and Genetic Engineering, IU
&
Dean, Faculty of Biological Sciences, IU
Antony van Leeuwenhoek
• In 1673, Leeuwenhoek (a Dutch
microscope maker), was first to
view organism (living things)
• Leeuwenhoek used a simple,
handheld microscope to view
pond water & scrapings from
his teeth
Gregor Mendel
• In 1863, Austrian monk who
conducted the first genetics
experiments using pea
plants in the mid 1800s.
• Often considered the
founder of genetics.
Louis Pasteur
• 1870’s, Disproved the notion of
spontaneous generation,
describing the role of bacteria
in spoilage and the scientific
basis for fermentation
• Created the rabies vaccine
Robert Hooke
• 1665, Invented the compound light
microscope
• First to observe cells in cork
James Watson & Francis Crick
• 1953, Englishmen
responsible for the discovery
of the double helix structure
of DNA using X-ray
photographs
Key points of classical genetics
• Gene
• Genome
• Genetics
• Genotype
• Phenotype
• Test cross
• Back cross
• Reciprocal cross
• Dominant gene
• Recessive gene
• Lethal gene
• Mutation and Mutant gene
Gene
A gene is the basic physical and functional unit of
heredity. Genes are made up of DNA. Some genes act as
instructions to make molecules called proteins. However,
many genes do not code for proteins. In humans, genes
vary in size from a few hundred DNA bases to more than 2
million bases.
Structure of DNA. Most DNA is found inside the nucleus of
a cell, where it forms the chromosomes. Chromosomes
have proteins called histones that bind to DNA. DNA has
two strands that twist into the shape of a spiral ladder
called a helix. DNA is made up of four building blocks
called nucleotides: adenine (A), thymine (T), guanine (G),
and cytosine (C). The nucleotides attach to each other (A
with T, and G with C) to form chemical bonds called base
pairs, which connect the two DNA strands. Genes are
short pieces of DNA that carry specific genetic
information.
Genome
The genome is the entire set of
DNA instructions found in a cell.
In humans, the genome consists of
23 pairs of chromosomes located
in the cell's nucleus, as well as a
small chromosome in the cell's
mitochondria. A genome contains
all the information needed for an
individual to develop and function
The primary function of the
genome is to store, propagate,
and express the genetic
information that gives rise to a
cell's architectural and functional
machinery. However, the genome
is also a major structural
component of the cell.
Genetics
Genetics is the study of genes, genetic variation,
and heredity in organisms. It is an important branch
in biology because heredity is vital to organisms'
evolution.
Gregor Mendel, working in the 19th century , was
the first to study genetics scientifically.
Mendel studied "trait inheritance", patterns in the
way traits are handed down from parents to
offspring over time. He observed that organisms
(pea plants) inherit traits by way of discrete "units of
inheritance". This term, still used today, is a
somewhat ambiguous definition of what is referred
to as a gene.
Genetics is the scientific study of genes and
heredity—of how certain qualities or traits are
passed from parents to offspring as a result of
changes in DNA sequence. A gene is a segment
of DNA that contains instructions for building one
or more molecules that help the body work.
Genotype
In a broad sense, the term "genotype" refers
to the genetic makeup of an organism; in
other words, it describes an organism's
complete set of genes. In a more narrow
sense, the term can be used to refer to the
alleles, or variant forms of a gene, that are
carried by an organism.
A genotype is a scoring of the type of variant
present at a given location (i.e., a locus) in
the genome. It can be represented by
symbols. For example, BB, Bb, bb could be
used to represent a given variant in a gene
The different types of genotypes are
homozygous recessive (pp), homozygous
dominant (PP), and heterozygous (Pp). The
homozygous dominant and the heterozygous
genotypes show the same phenotypes.
Phenotype
• Phenotype refers to an individual's
observable traits, such as height, eye
color and blood type. A person's
phenotype is determined by both
their genomic makeup (genotype) and
environmental factors.
• Examples of phenotypes
include height, wing length, and hair
color. Phenotypes also include
observable characteristics that can be
measured in the laboratory, such as
levels of hormones or blood cells.
Test cross
In a test cross, the individual in
question is bred with another
individual that is homozygous for
the recessive trait and the
offspring of the test cross .........
The test cross is another
fundamental tool devised by
Gregor Mendel. In its simplest
form, a test cross is an
experimental cross of an
individual organism of dominant
phenotype but unknown
genotype and an organism with
a homozygous recessive
genotype (and phenotype).
Backcross
• backcross, the mating of a
hybrid organism (offspring of
genetically unlike parents)
with one of its parents or with
an organism genetically
similar to the parent. The
backcross is useful in genetics
studies for isolating
(separating out) certain
characteristics in a related
group of animals or plants.
Reciprocal cross
• Reciprocal cross is a kind of crossing
strategy, which means to make
crosses between a pair of parents
(A and B) by using them in turn as
female parent and male parent to
obtain two reciprocal crosses of A
× B and B × A (usually a cross is
expressed in the way that the first
parent is female and the second
parent is ...
• For example, if the pollen (male)
from tall plants is transferred to the
stigmas (female) of dwarf plants in
one cross, the reciprocal cross
would use the pollen of dwarf
plants to pollinate the stigmas of
tall plants.
Reciprocal cross
Wild-type Male x Mutant Female
X (mut) X (mut)
X (mut) X (wt) X (mut) X (wt)
X (wt)
Red eye Female Red eye Female
X (mut) Y X (mut) Y
Y
White eye Male White eye Male
Mutant Male x Wild-type Female
X (wt) X (wt)
X X (mut) X (wt) X (mut) X (wt)
(mut) Red eye Female Red eye Female
X (wt) Y X (wt) Y
Y
Red eye Male Red eye Male
Dominant gene/ traits
A dominant gene, or a dominant version of
a gene, is a particular variant of a gene,
which for a variety of reasons, expresses
itself more strongly all by itself than any
other version of the gene which the person
is carrying, and, in this case, the recessive.
Dominant alleles show their effect even if
the individual only has one copy of the
allele (also known as being heterozygous?).
For example, the allele for brown eyes is
dominant, therefore you only need one
copy of the 'brown eye' allele to have
brown eyes (although, with two copies you
will still have brown eyes)
Recessive traits/gene
• Individuals inherit two versions of
each gene, known as alleles, from
each parent. In the case of a recessive
trait, the alleles of the trait-causing
gene are the same, and both
(recessive) alleles must be present to
express the trait. A recessive allele
does not produce a trait at all when
only one copy is present.
• X-linked Recessive Traits
Color blindness.
Duchene muscular dystrophy syndrome.
Hemophilia A and B.
Hunter syndrome.
Wiskott-Aldrich syndrome.