GENETICS

INTRODUCTION TO GENETICS

The answers to these questions are given by GENETICS - the science of inheritance.

• Why does someone have brown and someone blue eyes??

• Why is someone tall and someone short?
• Why do we look like our parents?
 GENETICS
 The study of biological inheritance.
 The concept of heredity is around 6000 years old.
 1866 – Gregor Mendel discovered the basic principles of genetics.
Mendel was the first person to shed light on the way in which
characteristics are passed down to generations.
It took three decades for Mendelian theory to be sufficiently understood
and to find its place within evolutionary theory.
 The structure of DNA, and the way in which it codes for protein
synthesis, was discovered during the 1950s and 1960s.
- 1953 - James Watson and Francis Crick discovered the double
helix structure of DNA.
• 1959- An additional copy of chromosome 21 linked to Down’s
syndrome.
• 1965- Marshall Nirenberg was the first person to sequence the
bases in each codon.
• 1906- British biologist William Bateson named the science of
genetics.
• 1909- Wilhelm Johannsen was a Danish geneticist and botanist, and
the creator of the terms Gene, Genotype, Phenotype, and Pure line.
• 1990- The first gene found to be associated with increased
susceptibility to familiar breast and ovarian cancer is identified.
• 1990- The Human Genome Project began.
• 1996- Dolly the sheep was cloned.
• 2003- The Human Genome Project was completed. The final form
contains 2,85 billion nucleotides .
  Cells are the body’s building blocks. They make up all of your body’s organs
and tissues.
BASIC  The nucleus of a cell controls the activities occurring in the cell’s cytoplasm.
GENETICS DNA in the chromosomes of the nucleus controls the production of protein in
I N F O R M AT I the cytoplasm.

ON  Genes are small sections of the long chain of DNA. Each gene is responsible
for producing a specific type of protein.
 PROTEINS
 Each cell is dependent on thousands of proteins which need to do
their job in the right places at the right time.
 Proteins are made up of many different combinations of 20 different
types of amino acids.
 More than 50% of the dry mass of most cells is protein.
 Proteins have many important functions:
• all enzymes are proteins,
• some hormones are proteins,
• essential components of cell membranes,
• the oxygen-carrying pigments hemoglobin and myoglobin are
proteins,
• antibodies are proteins,
• hair, nails and the surface layers of skin contain the protein
keratin etc
 DNA
(DEOXYRIBONUCLEIC ACID)
• DNA is the chemical name for molecule that carry genetic information in
all living organisms.
• Deoxyribonucleic acid chains are typically found in a double helix, a
structure in which two matching (complementary) chains are stuck
together.
• The sugars and phosphates lie on the outside of the helix, forming the
backbone of the DNA. This portion of the molecule is sometimes called
the sugar-phosphate backbone.
• The nitrogenous bases extend into the interior, like the steps of a staircase,
in pairs. The bases of a pair are bound to each other by hydrogen bonds.
• Each strand has a backbone made of alternative sugar (deoxyribose) and
phosphate groups. Attached to sugar is one of four bases: adenine (A),
cytosine (C), guanine (G), thymine (T).
• The sequence of the bases along the backbones serves as instructions for
assembling protein and RNA molecules.
H O W D N A I S PA C K A G E D
 RNA
(RIBONUCLEIC ACID)
• Ribonucleic acid (RNA), unlike DNA, is usually single-
stranded.
• A nucleotide in an RNA chain will contain ribose (the five-
carbon sugar), one of the four nitrogenous bases (A, U, G, or
C), and a phosphate group.
• Four major types of RNA:
• messenger RNA (mRNA),
• ribosomal RNA (rRNA),
• transfer RNA (tRNA),
• regulatory RNAs.
• RNA is an important biological macromolecule that functions
to convert the genetic information encoded by DNA into
protein.
• According to the level of biological organization at which the study of the phenomenon of heredity, variability and
realization of genetic information is performed, we distinguish the following areas of genetics:
• Transmission genetics
• Molecular genetics
• Medical genetics
• Cytogenetics
• Oncogenetics
• Immunogenetics
• Population genetics
• Quantitative genetics

GENETICS
 TRANSMISSION
GENETICS
• Transmission genetics is the study of how genes are
passed from one generation to the next, and was a
primary focus for early geneticists.
• The transmission of traits from parent to offspring is
monitored through several generations.
 MOLECULAR
GENETICS
• A field of science that deals with the study of molecular mechanisms
of inheritance.
• It investigates the structure of genes and their function at the molecular
level.
• Methods of genetics and molecular biology are used in molecular
genetics.
• The main goal of molecular genetics is to determine the function of all
genes and other parts of the genome.
• Achievements of molecular genetics are applied in many areas of
human activity.
 MEDICAL AND
CLINICAL GENETICS
• Medical genetics is any application of genetic principles to medical
practice. This includes studies of inheritance, mapping disease genes,
diagnosis and treatment, and genetic counseling.
• The basic criteria of clinical genetics are: accurate diagnosis,
application of basic principles of genetics in medical practice and
genetic counseling.
• Medical genetics is becoming increasingly important in the treatment
of many common diseases. It is increasingly overlapping with other
medical specialties.
 GENE THERAPY

• In the treatment of diseases caused by gene mutations, gene therapy is

applied, which is based on the incorporation of a functional gene into
cells with a mutated gene.
• Recombinant DNA technology in microorganisms produces many human
proteins in unlimited quantities for therapeutic purposes.
• The first such commercial product was the human hormone insulin,
which began to be produced in bacteria in the 1980s.
 GENE THERAPY

• Molecular genetics techniques can alter certain genes in organisms that

are beneficial to humans in order to achieve desired traits (GMOs).
• Gene therapy is one of the revolutionary possibilities for treating the
disease, currently in the phase of clinical trials.
• Scientists are examining the possibility of gene therapy in the treatment
of cancer, AIDS, cystic fibrosis, hemophilia and some autoimmune
diseases.
 A P P L I C AT I O N S O F
MOLECULAR GENETICS
• Molecular genetics is important for the study of evolution. Molecular
genetics has not only clarified the basic mechanisms of
evolution but also provided a new, more rational approach to
phylogenetic classification.
• Each organism can be identified by examining DNA sequences
unique to the species.
• Since 1985, DNA of biological material has become one of the most
powerful tools for personal identification in forensic medicine and
criminology.
 A P P L I C AT I O N S O F
MOLECULAR
GENETICS
•Some examples of the use of DNA in forensic
identification:
•Identification of potential suspects whose DNA may
match the evidence present at the crime scene
•Identification of disaster victims
•Determining paternity and other kinship ties
•Identification of endangered and protected species
•Detection of bacteria and microorganisms that can
cause disease
•Finding a suitable donor and recipient during
transplantation
•Pedigree determination for hybrid species
 CITOGENETICS
• It studies the mechanism of variability and hereditary traits through
the microscopic structure of chromosomes and individual organelles.
• This field connects the separate sciences of cytology and genetics.
• Chromosomes represent the highest degree of condensation of
chromatin nucleus material, which consists of DNA and proteins.
• The number and shape of chromosomes is characteristic of each
species.
• Body cells are diploid (have 2n chromosomes), and sex cells are
haploid (n).
In humans: 2n = 46; n = 23
• The karyotype of a normal female will then be 46, XX while in a male
it is 46, XY.
 CITOGENETIC
ANALYSIS
• Cytogenetic analyzes to examine whether there are changes
in the number and / or structure of chromosomes that may be
responsible for diseases such as:
• Down syndrome,
• Infertility (eg Turner and Klinefelter syndrome),
• Psychomotor and language syndrome, growth and
development,
• Early abortion (may be the result of a chromosomal
error in one of the parents in 3-5% of cases).
 ONCOGENETICS

• Oncogenetics is a new discipline and represents the study of

common adult malignancies.
• Cancer cells (neoplastic cells - the name comes from the
Greek neoplasia, which means new growth).
• Cancer cells divide, grow uncontrollably, attack normal tissue,
organs, and eventually spread throughout the body.
 ONCOGENETICS

• Tumor formations can be:

a) benign,
b) malignant.
• Lifestyle and external influences (viruses, drugs,
chemicals, UV radiation) play an important role in the
development of cancer.
 IMMUNOGENETICS
• Immunogenetics is the study of genetics of the immune
response.
• It develops rapidly thanks to gene mapping and cloning techniques.
• The genetic basis of the human immune system is very complex.
Many genes have been found and their function and structure have
been intensively studied with the development of immunogenetics.
• By identifying genes that define immune defects, new target
genes can be indicated as therapeutic targets.
• Alternatively, genetic variations may also help define immune
pathways that lead to disease development.
 POPULATION
GENETICS

• It studies inheritance at the

population level

Why some traits occur in populations,

why some are maintained and others
disappear.
• It deals with the study of gene
distribution in a population.
 Q U A N T I TAT I V E
GENETICS

• A branch of population genetics that studies the

statistical relationship between genes and the traits that
depend on them.
• Quantitative genetics is the study of the genetic basis
underlying phenotypic variation among individuals, with a
focus primarily on traits that take a continuous range of
values.
• Some familiar examples include height, weight, and
longevity.
 MODEL
ORGANISMS IN
GENETICS
• Model organisms are non-human species that Danio rerio
are used in laboratories to help scientists
understand biological processes.
• Typical characteristics of model organisms Escherichia coli

include:
• Rapid development to maturity
• Easy manipulation
• High reproducibility
• Mostly simple systems Drosophila
• Mostly small in size melanogaster

• No ethical concerns Mus musculus

QUESTIONS?