Nicolas Hartsoeker (1694)

- Homunculus: A miniature human carried in

CYTOGENETICS LECTURE 1
the head of a sperm.

CYTOGENETICS William Harvey

- Study of inheritance in relation to the - theory of epigenesis.
structure and function of chromosomes.
Robert Hooke (1665)
DEFINITION OF TERMS - observed the cell structure under a light
microscope.

Character Anton Van Leeuwenhoek (1674-1683)

- heritable feature that varies among - Master lens maker; Single lens microscope.
individuals.
Jan Purkinje (1830)
Trait - first described the nucleus within a cell.
- pertains to each variant for a character (Ex:
flower color: purple or white) Robert Brown (1831)
- botanist; coined the term nucleus; Brownian
True Breeding motion of microscopic particles; gymnosperms
- parents would produce an offspring that vs angiosperms.
would carry the same phenotype.
Hugo von Mohl (1835-1839)
Hybridization - mitosis in a cell.
- mating or crossing of two varieties.
Rudolf Virchow (1858)
P - parental generation; True breeding parents. - summarized the concept of cell theory
("Omnis cellula e cellula": all cells come from
F1 - first filial generation; Offspring of the parental pre-existing cells)
cross.

F2 - second filial generation; offspring allow to MENDELIAN TRAITS AND OBSERVATION OF

pollinate or cross to one another. CHROMOSOMES

Genotype Gregor Mendel (1856-1863)

- genetic composition of an organism - Austrian Monk
- Classical hybridization experiments with
Phenotype pea plants
- the visible expression of information - Statistical patterns of heritable phenotypes.
contained in a gene.
Oscar Hertwig (1875)
Locus (pl. loci) - German embryologist; Fusion of sperm and
- specific, fixed position on a chromosome egg (zygote)
where a particular gene is located.
Walther Flemming (1879-1885)
Allele - Physician; newly synthesized aniline dyes to
- alternative form of a gene. view and describe chromosomes and the way
they move during mitosis.
Homozygous
- an organism having a pair of identical
alleles at a given locus at a given Heinrich Waldeyer (1888)
chromosome. - first used the term chromosome.

Heterozygous Theodor Boveri, Karl Rabl and Édouard van

- an organism having two different alleles at a Beneden (1880)
given locus - hypothesized that chromosomes are
individual structures with continuity from
Genes one generation.
- A nucleotide sequence encoding a
polypeptide sequence which makes an enzyme August Weismann (1885)
or structural protein. - inheritance of traits is based exclusively in
the nucleus; meiosis (1887)

Oscar Hertwig and Theodor Boveri (1890)

OVERVIEW OF THE HISTORY OF
GENETICS/CYTOGENETICS - described the process of meiosis in detail

DISCOVERY OF THE CELL AND THE NUCLEUS

*General beliefs of Hippocratic school persisted CHROMOSOME THEORY AND SEX LINKAGE
(Gametes of the organism would assemble into
the individual) Thomas Hunt Morgan (1900)

BAES, NOEL JASPER N. BS MEDICAL LABORATORY SCIENCE

BSMLS-2B CYTOGENETICS LECTURE 1
 - introduced Drosophila melanogaster as a 1995: Haemophilus influenzae was the first
model genetic system. organism to have its complete genome sequenced.

Walter Sutton (1902) 1996: first mammal was cloned (Dolly) by lan
- explained Mendel's rules of inheritance. Wilmut

Nettie Maria Stevens (1905) 1997: first transgenic cow (Rosie), can expressed
- investigated sex determination in human a- lactalbumin protein in her milk
mealworms; X and Y chromosomes.
2001: human genome was sequenced and
Thomas Hunt Morgan (1911) published
- genes producing white eyes, yellow body, and
miniature wings in Drosophila are located September 2007: 634 different organisms have
on the X chromosome. had their complete genome sequenced and
published.
Alfred Sturtevant (1913)
- used Drosophila to create the first genetic
GENERAL AREAS OF CYTOGENETICS
map.

Calvin Bridges (1914) 1. CLASSICAL GENETICS

- working with Morgan; described
nondisjunction of Drosophila sex
chromosomes. Classical Genetics
- Concerned with genes, mutations and
Lewis Stadler and Hermann Muller (1927) phenotypes.
- genes can be mutated artificially by X- - Deals with the arrangements of genes on
rays. the chromosome, methods that generate
mutations and various patterns of inheritance.

William Bateson (1902) Gregor Mendel

- terms F1, F2, homozygote, heterozygote, and - published the basic rules of inheritance
allelomorph; created the term genetics (1866)
(1905). - correctly hypothesized that traits such as pod
color were controlled by genetic elements
Wilhelm Johannsen (1909) - predicted that adult organisms have two
- phenotype, genotype, and gene. copies of each gene (diploid state);
gametes receive just one of these copies
Ronald A. Fisher, Sewall Wright, and John B. S. (haploid state)
Haldane (1930-1932) - Formulated two general laws of inheritance:
- algebraic foundations for our understanding law of segregation and the law of
of the process of evolution. independent assortment.

Salvador Luria and Max Delbrück (1943)

- demonstrated that bacteria have genetic
systems and phenotypes that could be CHROMOSOMAL THEORY OF INHERITANCE
studied.

Chromosomes, which contain genes, are the

carriers of the genetic material.
DNA, RNA AND MOLECULAR GENETICS
George Beadle and Edward Tatum (1940)
Oswald Avery (1944), Alfred Hershey and Martha - suggested that one gene encodes one enzyme
Chase (1952) ("one-gene- encodes-one-polypeptide")
- DNA was the genetic material

James Watson and Francis Crick (1953) APPLICATION OF CLASSICAL GENETICS

- worked out the structure of DNA.

Pedigree Analysis
Werner Arber, Hamilton Smith, and Daniel
- pictorial representation of related
Nathans (1968-1973)
individuals and the phenotype that each
- described restriction endonucleases "the
individual exhibits.
servant with the scissors" (Nobel Prize in
1978)
Karyotyping
- is the representation of all the
Paul Berg (1972)
chromosomes in an individual.
- first to construct a recombinant DNA
molecule containing parts of DNA from
different species.
2. MOLECULAR GENETICS

BAES, NOEL JASPER N. BS MEDICAL LABORATORY SCIENCE

BSMLS-2B CYTOGENETICS LECTURE 1
 Polymerase Chain Reaction (PCR):
Molecular Genetics - amplifies a desired DNA sequence
- study of the structure, replication, and - Able to locate disease-causing genes, as
expression of the genetic material and of the well as suggesting potential treatments.
expressed protein.

DNA (Deoxyribonucleic Acid)

CLONING AND GENE THERAPY
- genetic material for all cellular organisms
- double-helical molecule
- Anti-parallel Genetic Engineering
- Bases: Adenine (A), Thymine (T), Guanine (G), - ability to clone animals, which involves
and Cytosine (C) transplanting a nucleus from a somatic cell into
an enucleated egg cell to produce a genetically
DNA replication: identical individual.
- Double helix "Unzips" resulting in two double
helices exactly like the first. Genomics
- DNA polymerase - study of an organism's complete DNA or
- enzyme that performs DNA RNA sequence, the organization and
replication. expression of genes, and the relationship of
these elements between different species;
DESCRIPTION potential for designing drug therapies for
DNA (Deoxyribonucleic Acid) to RNA (Ribonucleic Acid) a specific disease.

RNA differs from DNA: Transcriptomics

- Contains Ribose (in place of deoxyribose in - the study of all the transcribed genes and
DNA how their expression changes in response to
- It has base Uracil (U) rather than Thymine different stimuli or diseases.
(T)
- RNA is single-stranded
- Transcribed from DNA by enzyme RNA 3. EVOLUTIONARY GENETICS
polymerase

Evolutionary Genetics
- Studies the mechanisms that result in
changes in allele frequencies in populations
over time and the consequences of those
changes.

Charles Darwin
TYPES OF RNA - Described the concept of evolution as a
result of natural selection.
1. Messenger RNA (mRNA)
- contains the information that will be Godfrey Hardy and Wilhelm Weinberg (1908)
translated into a protein's amino acid - formulated the
sequence. Hardy-Weinberg Equilibrium
- Used as a baseline for comparing
2. Ribosomal RNA (rRNA) populations to see whether any
- forms a complex with several evolutionary processes are occurring.
proteins to form the ribosome,
which is where mRNA nucleotide Hardy-Weinberg Equation
sequences are translated into amino - used to relate allele frequencies and
acid sequences genotype frequencies; Applies to a gene in a
diploid species that is found in only two alleles
3. Transfer RNA (tRNA) (designated as p and q).
- contains a three-nucleotide - p² + 2pq + q2 = 1
anticodon sequence.
Sociobiology

RECOMBINANT TECHNOLOGY
Sociobiology
- social behavior is under genetic control
Recombinant Technology: and is acted on by natural selection, as is
- Began with the discovery of restriction any morphological or physiological trait.
endonucleases (enzymes that cut DNA at
specific sequences to yield DNA fragments)
- Utilizes plasmids, small, circular
Hardy-Weinberg equilibrium
extrachromosomal DNA units found in
some bacteria.
1. No New Mutations: The gene of interest incurs no
new mutation.
Polymerase Chain Reaction

BAES, NOEL JASPER N. BS MEDICAL LABORATORY SCIENCE

BSMLS-2B CYTOGENETICS LECTURE 1
2. No Genetic Drift: The population is so large that
allele frequencies do not change due to random
fluctuations.

3. No Migration: Individuals do not travel between

different populations.

4. No Natural Selection: All of the genotypes have the

same reproductive success.

5. Random Mating or Breeding: With respect to the

gene of interest, the members of the population
reproduce with each other randomly, without regard to
their phenotypes and genotypes.

NOTE
MATING - Animals
BREEDING - Plants

BAES, NOEL JASPER N. BS MEDICAL LABORATORY SCIENCE

BSMLS-2B CYTOGENETICS LECTURE 1