overview

And history
of
cytogenetics
Week 1
Genetics - the scientific study of
heredity

Human genetics – The study of heredity

in man
Medical genetics – The study of human
genetic variation of medical significance

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Medical genetics can be further divided
into five groups:

Clinical genetics
Genetic counseling
Molecular genetics
Biochemical genetics
Cytogenetics

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CYTOGENETICS

−the branch of genetics that studies the

structure of DNA within the cell nucleus
−study of chromosomes
−involves testing samples of tissue, blood,
or bone marrow in a laboratory to look for
chromosomal changes

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HEREDITY

−refers to the passing of genetic factors

from parents to offspring or from one
generation to the next
−came from the Latin hērēditāt, which
means inheritance

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CHROMOSOME

−an organized package of DNA found in

the nucleus of the cell
−consist of DNA and protein

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CHROMOSOME NUMBER OF DIFFERENT SPECIES
Common name Species Diploid number
Human Homo sapiens 46
Dog Canis lupus familiaris 78
Cat Felis domesticus 38
Mouse Mus musculus 40
Frog Rana pipiens 26
Fruit fly Drosophila melanogaster 8
Corn Zea mays 20
Potato Solanum tuberosum 48
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GENE

−the basic physical unit of inheritance

−are the instructions to manufacture
proteins, which determine inherited traits
−passed from parents to offspring and
contain the information needed to specify
traits

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MUTATION

−a change in a DNA sequence

−result from DNA copying mistakes made:
 during cell division
 exposure to ionizing radiation
 exposure to mutagens
 infection by viruses

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GENETICS

−the study of genes and inheritance in

living organisms
−the study of inherited traits and their
variation

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SPECIES

−a group of organisms that share a

genetic heritage, are able to interbreed,
and to create offspring
−one of the most specific classification
that scientists use to describe animals

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EVOLUTION

−the process by which organisms change

over time
−has three components:
1. All organisms are descended from a common
ancestor
2. There is gradual change over time
3. Natural selection operates upon changes
resulting in emergence of species that have
particular abilities to survive in a niche
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NATURAL SELECTION

−process that results in the adaptation of

an organism to its environment by means
of selectively reproducing changes in its
genotype

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Concepts of Genetics
TRAIT

−a specific characteristic of an organism

−can be determined by genes or the
environment

▷ Genotype - genetic contribution to a trait

▷ Phenotype - outward expression of the
genotype

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MONOGENIC TRAIT

−a trait produced by the effect of a gene or

an allele
−follows Mendelian inheritance

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POLYGENIC TRAIT

−one whose phenotype is influenced by

more than one gene
−traits that display a continuous
distribution
−also influenced by the environment and
is called multifactorial

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MENDELIAN TRAIT

−Any trait that can be passed to progeny

which follows Mendelian laws.
−a categoric trait that segregates in
accordance with a single-locus genetic
system

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CHROMOSOME

−an organized package of DNA found in

the nucleus of the cell
−the structure housing DNA in a cell

▷ Autosomes - 22 pairs of numbered

chromosomes
▷ Sex chromosomes – X and Y chromosome

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ALLELE

−one of two or more versions of a gene

−people inherit one allele for each
autosomal gene from each parent

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GENETIC COMPOSITION:
GENOTYPE
−an individual's collection of genes
−is expressed when the information
encoded in the genes' DNA is used to
make protein and RNA molecules

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HOMOZYGOUS

−a genetic condition where an individual

inherits the same alleles for a particular
gene from both parents
−both alleles at a locus are the same

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HETEROZYGOUS

−refers to having inherited different forms

of a particular gene from each parent
−the two alleles at a locus are different

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GENETIC COMPOSITION:
PHENOTYPE
−an individual's observable traits, such as
height, eye color, and blood type
−“pheno” - observe

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DOMINANT

−refers to the relationship between two

versions of a gene
−allele that will be expressed

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RECESSIVE

−a quality found in the relationship

between two versions of a gene
−refers to a type of allele which will not be
manifested in an individual unless both of
the individual's copies of that gene have
that particular genotype

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CO-DOMINANT

−a relationship between two versions of a

gene
−neither allele is recessive and the
phenotypes of both alleles are expressed

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BIRTH AND PROGRESS OF HUMAN CYTOGENETICS
ALBUCASIS

−Arab physician
−First described
hemophilia as a
genetic disorder

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WALTHER −Austrian cytologist and
FLEMMING professor of anatomy
−published the first
illustrations of human
chromosomes in 1882
−referred to the stainable
portion of the nucleus as
chromatin
−first used the term mitosis

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HEINRICH −introduced the word
WILHELM chromosome, from the
GOTTFRIED Greek words for
WALDEYER “colored body”
−noted the ability of
thread-like structures in
the nucleus, stained by
the dye fuchsin

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1600s
Robert Hooke
Looks at structure under microscope and
calls them cells

Anton van Leeuwenhoek

Improved the compound microscope
1st scientist to observe and differentiate
rbcs, bacteria and to see sperm in semen
1859
 Charles Darwin
 English naturalist whose scientific theory of evolution
by natural selection became the foundation of
modern evolutionary studies
 “The Origin of Species by Means of Natural
Selection”

1866
Gregor Mendel
the first person to lay the mathematical foundation
of the science of genetics
1869
 Friedrich Miescher
 Identified the acidic substance found in the cell nuclei of white
blood cells, now called DNA

1900
William Bateson
coined the word genetics

1910
 Thomas Hunt Morgan
 Confirms the chromosome theory of heredity using studies of
eye color of fruit flies
1911
 E.B. Wilson
 Identifies X chromosome as the location for gene for color
blindness

1950
Erwin Chargoff
Show that 4 nucleotides are present in DNA
1952
 Martha Chase and Alfred Hershey
 Uses phages to demonstrate that final proof that DNA is the
element of heredity

1985
Kary Mullis
Polymerase Chain Reaction

1995
 Venter, Fraser and Hamilton Smith
 Publish the first sequence of the free living bacteria
Haemophilus influenzae
1996
Dolly the sheep was born
 1st ever cloned animal from an adult somatic cell
2001
CC the cat was born
1st pet to be cloned
ADDITIONAL CONTRIBUTIONS IN
CYTOGENETICS

Levitsky - formulated the term karyotype to refer to the

ordered arrangement of chromosomes

Tjio and Levan - diplomatically reported that the human

diploid chromosome number appeared to be 46

Lejeune and colleagues - described an extra chromosome

from patients with Down syndrome

Ford et al. - reported that females with Turner syndrome

have 45 chromosomes
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ADDITIONAL CONTRIBUTIONS IN
CYTOGENETICS

Jacobs and Strong - demonstrated that men with

Klinefelter syndrome have 47 chromosomes

Murray Barr -discovered X chromatin or the Barr body

Nowell and Hungerford - reported the presence of the

“Philadelphia chromosome” in chronic myelogenous
leukemia

Lejeune et al. - reported cri du chat (“cat cry”) syndrome

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HUMAN CHROMOSOME MORPHOLOGY
A karyotype describes the
chromosome complement of an
individual or species in terms of
number, size, and morphology of its
chromosomes.

Karyotypes can be based on mitotic or

meiotic chromosomes and are
enhanced by chromosome-banding
techniques.

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BANDING PATTERN OF
CHROMOSOMES
−Chromosome banding allows the identification of
chromosome deletions, duplications, translocations,
inversions, and other less common chromosome
abnormalities.

−Chromosome ideograms, i.e. diagrams used in

identifying chromosomes, are used by cytogeneticists
to show the relative sizes and the characteristic
banding patterns of chromosomes

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