GENETICS

• Study of inherited traits and their variation WHAT IS CYTOGENETICS?

GENES • Cyto- means cell
• Units of heredity which the transmission of inherited traits • Functional unit of life
• There are several main functions that the cell has to carry out:
GENES 1. Molecule transport
• Genes are units of heredity which is the transmission of 2. Energy conversion
inherited traits, segments of chromosome which contain 3. Reproduction Two types of cells:
particular genetic information
• There are about 35,000 genes in human genome PROKARYOTIC and EUKARYOTIC
• Our chromosome contain the entire "blueprint" for all human CYTOLOGY
life. • Branch of Science that deals with the study of CELLS in terms
of structure, function and chemistry.
CHROMOSOMES PROKARYOTIC
• Chromosomes are dense bodies found in the nucleus of cells Simpler, smaller than a eukaryotic cell, lacking of nucleus and
• They contain all the genetic information necessary to create a most of the other organelles of eukaryotes.
living being. •Nuclear material consist of a single chromosome which is in
• Discovered by Karl Wilhelm von Nageli on 1842 using plants direct contact with cytoplasm
• Walther Flemming described chromosomes using Nucleoid- the undefined nuclear region, where the DNA is
salamander condensed in the cytoplasm.
Chromosome pairs look a bit like stick figures of people each
with: Two (2) arms- called the "short arm" of the chromosome EUKARYOTIC CELL
The (2) legs- called the "long arms" of the chromosome • 15 times wider than a typical prokaryote and can be as much
Joined in the middle of the chromosome via the "centromere" as 1000 times greater in volume
• Major difference in prokaryotic cell: eukaryotic cell contain
KARYOTYPE MEMBRANE- BOUND COMPARTMENTS in which specific
• Chromosomes usually jumbled and mixed together in the metabolic activities take place.
nucleus of cells •Most important is the nucleus.
• To study this particular chromosomes, they are organized but • Nucleus- a membrane delineated compartment that houses
these cell size and arranged in pairs. the eukaryotic cells DNA
• All full complement chromosomes arranged from the largest •Nucleus gives the eukaryote as "True cell" - •Eukaryotic DNA is
to smallest called a "karytoype" organized in one or more linear molecules
calledCHROMOSOMES
HUMAN CHROMOSOME
• 46 chromosomes in human cells DEFINITION OF CYTOGENETICS
• 22 autosomal pairs (one of each type is contributed by the • Cytogenetics is the study of chromosomes
mother and one of each type contributed to the father) •It includes the study of normal and abnormal chromosomes,
• 2 sex chromosomes and investigation of the causes of chromosomal abnormalities

SEX CHROMOSOMES HISTORY AND BRANCHES OF CYTOGENETICS

• Referred to letters "x" and "y" • The fact that living things inherit traits from their parents has
• Female: two X chromosome been used since prehistoric times
• Male: one X, one Y chromosome • Bazopoulou – Kyrkanidou – Genetic concepts have been
found in the literature of the Greeks. “The greeks were tied
DNA with the idea of heredity because of the constant referral to
• A gene is composed of the molecule deoxyribonucleic acid, lineages of kings and gods”
more familiarly know as DNA • Aristotle – suggested that the physical characteristics of
• All chromosomes are made from DNA organisms are stored in the male semen. This interacts with
• The complement set of genetic information characteristic of an organismthe female menstrual blood to form a new organism with fixed
constitutes a genome essence.
DNA is very long protein molecule that is composed of base pairs called •" Gregor Mendel – An Augustinian monk who conducted his
Nucleotides" arranged on a structure of phosphate and deoxyribose. famous experiment of self and cross pollinations on the pea
plant “Pisum sativum” at the monastery’s garden. (1856-1863)
DEFINITION OF TERMS
•ALLELE – Dominant vs. Recessive BRANCHES: CLASSICAL GENETICS
• GENOTYPE • The basic theory associated with classical genetics provided
• PHENOTYPE explanations for the transmission of traits from parents to
offspring
• 1866- History of genetics is generally held to have started
with the work of an Augustinian friar, Gregor Mendel
 • Gregor Mendel- known as the Father of Genetics.• Robert - his work
Sinsheimer – On 1985 pioneered discussions to sequence the
on pea plants described what came to known as the human
Mendelian
genome
Inheritance. • Fred Sanger – On 1986 developed the Polymerase Chain Reaction
• 1996 – Dolly the sheep was born – first ever cloned animal from an
WHY PEA PLANTS? adult somatic cell using the process of nuclear transfer
• Pea plants are available in many varieties with distinct • 1952- The Hershey Chase experiment also showed that DNA
heritable features (characters) with different variants (traits) (rather than protein) is the genetic material of the viruses that
• Mendel has strict control over which plants mated with which. infect bacteria, providing further evidence that DNA is the
• Each pea plant has male (stamen) and female (carpal) sexual molecule responsible for inheritance.
organs • 1953- James D. Watson and Francis Crick – determined the
• In nature, pea plants typically self-fertilize, fertilizing over with structure of DNA, using the X-ray crystallography work of
their own sperm Rosalin Franklins that indicated DNA had a helical structure.
• However, Mendel could also move pollen from one plant to
another to cross-pollinate plants POPULATION GENETICS
• Concerned with the genetic constitution of populations and
CLASSICAL GENETICS how this constitution changes with time.
• 1900- "Rediscovery of Mendel" by Hugo de Vries, Carl • POPULATION- a set of organism in which any pair of
Correms and Erich vonTsermak (Mendelian law of inheritance) members can breed together. This implies that all members
• Early 20th century- Walter Sutton and Theodore Boveri in the belong to the same species and live near each other.
advent of advances in microscopy proposed that genes are
carried on chromosomes---- Basis of the Chromosome theory NATURAL SELECTION
of inheritance • Process by which heritable traits that make it more likely for
• William Bateson – On 1905 coined the word “genetics” for an organism to survive and successfully reproduce become
the first time and that made genetics as a formal branch of more common in a population over successive generations.
biology. It was also the same year that Bateson along with
Punnett (Punnet square), made a significant findings on • GENETIC DRIFT – the change in relative frequency in which
genetic linkages a gene variant (allele) occurs in a population due to random
• 1915- basic principles of Mendelian genetics had been applied to a widesampling and chance.
variety of organisms – most notably the fruit fly Drosophilia melanogaster
• 1925- led by Thomas Hunt Morgan and his fellow drosophilists, MUTATION
geneticists developed the Mendellian chromosome theory of Heredity • Changes in the DNA sequence of a cell's genome (maybe
caused by radiation, viruses, transposons, and mutagenic
WHY FRUIT FLY? chemicals, as well as errors that occur during meiosis or DNA
• Fruit fly have several characteristics that make them excellent subjects replication.
for genetics studies: GENE FLOW- exchange of genes between populations which
1. Easily reared in the laboratory are usually of the same species. Ex. Migration ad then
2. Prolific 3. Short life cycle breeding of organisms, or the exchange of pollen. Gene
4. Prominent characteristics that can be used in the sex determination transfer between species includes the formation of hybrid
5. Simple chromosome organization—3 pair of autosomal chromosome organisms and horizontal gene transfer
and pair of sex chromosomes.
METHODS OF GENETIC STUDY
MOLECULAR GENETICS • GENETIC MAPPING
• Molecular genetics is the study of the agents that pass information from❖ can offer form evidence that a disease transmitted from
generation to generation. parent to child is linked to one or more genes.
• Research in molecular biology and genetics has yielded the answers to ❖Provides clues about the chromosome contains the gene
the basic questions left unanswered by classical genetics about: and precisely where it lies on that chromosome
- Makeup genes ❖Have been used successfully to find the single gene
- Mechanism of gene replication responsible rare inherited disorders.
- What genes do HOW DO RESEARCHERS CREATE A GENETIC MAPPING?
- Way that gene differences bring about phenotypic differences • Researchers collect blood or tissue samples from family
members where a certain diseases or it prevalent
MOLECULAR GENETICS • The scientist isolate DNA from these samples and examine it
• 1920- genes were know to exist on chromosomes, chromosomes are for the unique patterns of bases seen only in the family
composed of both protein and DNA – scientist did not know which of these members who have diseases or trait.
is responsible for inheritance. • These characteristic molecular patterns are referred to as
• 1928- Frederick Grifith- discovered the phenomenon of transformation: polymorphism, or markers.
dead bacteria could transfer genetic material to "transform" other stillliving
bacteria. METHODS OF GENETIC STUDY
• 1944- Oswald Theodore Avery, Colin McLeod and Maclyn • Recombinant DNA Technology: Recombinant DNA (rDNA) is
McCartyidentified the molecule responsible for transformation as DNA a form of artificial DNA is created by combining two or more
• Meselson and Stahl – On 1958 used the equilibrium density gradient sequences that would not normally occur together through the
centrifugation to conclude that DNA replication is semi-conservative process of gene splicing.
 • It is created through the introduction of relevant DNA into an
existing organismal DNA, such as plasmids of bacteria, to code
for or alter different traits for a specific purpose, such as
antibiotic resistance.

PRACTICAL APPLICATIONS OF GENETICS

1. Establishing identity- forensics, history and ancestry
2. Health care- single gene disease (inherited diseases) , genetic testing,
treatment
3. Agriculture- breeding (biotechnology, transgenic organism)
4. Ecology