MLS 107 CYTOGENETICS

OVERVIEW AND HISTORY OF CYTOGENETICS GENE

Lecture by: Miss Junally Jerca Mae Layson, RMT, MPH
GENETICS
The scientific study of heredity
→ 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

HUMAN GENETICS MEDICAL GENETICS MUTATION

→ The study of heredity → The study of human → a change in a DNA • during cell division
in man genetic variation of sequence • exposure to ionizing
medical significance → result from DNA radiation
copying mistakes • exposure to mutagens
MEDICAL GENETICS can be further divided into 5 groups: made: • infection by viruses

➢ Clinical Genetics – a medical specialty that GENETICS

provided a series of tests for individuals at risk of → the study of genes and inheritance
genetic disorder → in living organisms
➢ Genetic Counseling – giving information of the → the study of inherited traits and their variation
disease; giving advice to the patients as well as the
relatives (G6PD) SPECIES
➢ Molecular Genetics – genetics at molecular level → a group of organisms that share a genetic heritage,
not only in chromosomes but also DNA can interbreed, and to create offspring
➢ Biochemical Genetics – study of the processes; → one of the most specific classification that
taking note of the event that would lead to disorder scientists use to describe animals
➢ Cytogenetics – study of inheritance in relation to
the function and structure of chromosomes EVOLUTION
→ The process by → Has 3 components:
CYTOGENETICS which organisms ➢ All organisms are
→ the branch of genetics that studies the structure of change over time descended from a
DNA within the cell nucleus common ancestor
→ study of CHROMOSOMES ➢ There is gradual change
→ involves testing samples of tissue, blood, or bone over time
marrow in a laboratory to look for chromosomal ➢ Natural selection
changes operates upon changes
resulting in emergence of
HEREDITY species that have
→ refers to the passing of genetic factors from parents particular abilities to
to offspring or from one generation to the next survive in a niche
→ came from the Latin hērēditāt, which means
inheritance NATURAL SELECTION
→ process that results in the adaptation of an organism
CHROMOSOME to its environment by means of selectively
→ an organized package of DNA found in the nucleus of reproducing changes in its GENOTYPE
the cell
→ consist of DNA and protein

CHROMOSOME NUMBER OF DIFFERENT SPECIES 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

MONOGENIC TRAIT
→ a trait produced by the effect of a gene or an allele

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 → follows Mendelian inheritance GENETIC COMPOSITION: GENOTYPE

POLYGENIC TRAIT GENOTYPE

→ 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
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
→ an individual's collection of genes
→ is expressed when the information encoded in the
genes' DNA is used to make protein and RNA
molecules
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

CHROMOSOME
→ Organized package of DNA found in the nucleus of
the cell
→ The structure housing the DNA in a cell

Autosomes → 22 pairs of numbered

chromosomes
Sex → X and Y chromosome
chromosomes HETEROZYGOUS
→ refers to having inherited different forms of a
particular gene from each parent
→ the two alleles at a locus are different

GENETIC COMPOSITION: PHENOTYPE

PHENOTYPE
→ an individual's observable traits, such as height, eye
color, and blood type
→ “pheno” – observe

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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 DOMINANT TIMELINE
→ refers to the relationship between two versions of a
gene 1600s ROBERT HOOKE
→ allele that will be expressed → Looks at the structure under microscope
and calls them CELLS
RECESSIVE
→ a quality found in the relationship between two ANTON VAN LEEUWENHOEK
versions of a gene → Improved the COMPOUND MICROSCOPE
→ refers to a type of allele which will not be → 1st scientist to observe and differentiate
manifested in an individual unless both of the RBCs, bacteria and to see sperm in
individual's copies of that gene have that particular semen
genotype
1859 CHARLES DARWIN
→ “The Origin of Species by Means of
CO-DOMINANT Natural Selection”
→ a relationship between two versions of a gene → English naturalist whose scientific
→ NEITHER ALLELE is recessive, and the phenotypes theory of evolution by natural selection
of both alleles are expressed became the foundation of modern
evolutionary studies

BIRTH AND PROGRESS OF HUMAN CYTOGENETICS 1866 GREGOR MENDEL

→ The first person to lay the mathematical
ALBUCASIS 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

→ ARAB physician 1911 E.B. WILSON

→ First describes HEMOPHILIA as a genetic disorder → Identifies the X chromosome as the
location for gene for color blindness
WALTHER FLEMMING
1950 ERWIN CHARGOFF
→ AUSTRIAN cytologist
→ Show that 4 nucleotides are present in
and professor of
DNA (Guanine, Adenine, Cytosine,
anatomy
Thymine)
→ published the first
illustrations of human
chromosomes in 1882 1952 MARTHA CHASE and ALFRED HERSHEY
→ referred to the → Uses phages to demonstrate that final
stainable portion of the proof that DNA is the element of heredity
nucleus as chromatin
→ first used the term 1985 KARY MULLIS
mitosis → Polymerase Chain Reaction

1995 VENTER, FRASER, and HAMILTON SMITH

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

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 2001 CC THE CAT WAS BORN → Chromosome ideograms, i.e., diagrams used in
→ 1st pet to be cloned identifying chromosomes, are used by
cytogeneticists to show the relative sizes and the
characteristic banding patterns of chromosomes
ADDITIONAL CONTRIBUTIONS IN CYTOGENETICS

LEVITSKY → formulated the term

karyotype to refer to the
ordered arrangement of
chromosomes

TIJO and LEVAN → diplomatically reported

that the human diploid
chromosome number
appeared to be 46

LEJEUNE and → described an extra

colleagues chromosome from
patients with Down
syndrome

FORD et al. → reported that females

with Turner syndrome
have 45 chromosomes

JACOBS and STRONG → demonstrated that men

with Klinefelter
syndrome have 47
chromosomes

MURRAY BARR → discovered X chromatin

or the Barr body

NOWELL and → reported the presence of

HUNGERFORS the “Philadelphia
chromosome” in chronic
myelogenous leukemia

LEEJUNE et al. → reported cri du chat (“cat

cry”) syndrome

HUMAN CHROMOSOME MORPHOLOGY

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.

BANDING PATTERNS OF CHROMOSOME

→ Chromosome banding allows the identification of
chromosome deletions, duplications, translocations,
inversions, and other less common chromosome
abnormalities.

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