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CYTOGENETICS
CYTOGENETICS is defined as the
science that combines the methods
and findings of cytology and genetics
to allow investigation of heredity at
the cellular level.
GENE
- a sequence of nucleotides that
represent functional unit of
inheritance
- A region of DNA that codes for a
product: RNA or Protein
CHROMOSOME
- A highly ordered structure
composed of DNA that carries
the genetic information.
ALLOSOME / IDIOSOME
- Designated as the sex
chromosomes which determines
sex.
- They are known as the X and Y
chromosomes.
- 23rd chromosome pair in
humans.
AUTOSOME
- All chromosomes other than the
X and Y chromosomes.
HOMOLOGOUS CHROMOSOMES /
HOMOLOGS
- Aka sister chromosomes, the
members of a pair of
chromosomes in which one is
inherited from the mother and
the other from the father.
KARYOTYPE
- The chromosome constitution of
an individual.
KARYOGRAM
- A figure showing the paired
chromosomes from a cell
arrayed in a standard sequence.

HAPLOID
- One copy of each unique
chromosome.
- Mathematically represented as:
(N)
- Human gametes/ germ cells are
haploid which contains N=23
chromosomes.
DIPLOID
- Presence of two copies of each
unique chromosome per cell.
- Mathematically represented as:
(2N)
- Human chromosomes occurs as
diploid which occurs in 2N=46
chromosomes or two pairs of 23
chromosomes.
LOCUS
- Position of a gene on a
chromosome
ALLELE
- Alternative form of a gene
occupying the same locus.
- There is a maximum of two
alleles per diploid set of
chromosomes (one allele per
chromosome).
- An allele may be the result of
mutation.
MUTATON
- A permanent change in the
sequence of genomic DNA.
HOMOZYGOUS
- Both alleles at a locus are
similar
- A.k.a Pure-Breed
HETEROZYGOUS
- Both alleles at a locus are
different
- A.k.a Hybrid

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HEMIZYGOUS
- A presence of only one
chromosome.
GENOTYPE
- The genetic constitution of an
individual
- Applies to the particular alleles
present for an individual.
- Pure-breed

PHENOTYPE
- The expression of a genotype
- The appearance of an individual
that results from the interaction
of environment and heredity.
HAPLOTYPE
- Series of alleles in a single
chromosome.
DOMINANT ALLELE
- In a diploid organism, an allele
that is expressed even when
present in only a sign dose or
heterozygous.
RECESSIVE ALLELE
- In a diploid organism, and allele
that is only expressed when
homozygous.
CONDOMINANT ALLELES
- In a diploid organism, alleles
that are both expressed when
present together.
- Show no dominance or
recessivity to each other.
INCOMPLETE DOMINANCE
- One allele of a pair is not fully
dominant.
PENETRANCE
- Percentage of alleles
INDEPENDENT ASSORTMENT

Random assortment of
chromosomes in the gametes.
Always 50% chance of inheriting
a given chromosome from one
parent.

LINKAGE
- The presence of two or more
genes on the same
chromosome that tend to be
inherited together.
RECOMBINATION
- The generation of ne allelic
combination on chromosomes,
usually by crossing-over.
- It increases the genetic
diversity at the population level.
CROSSING-OVER
- The physical exchange of
genetic material between
homologs.
MITOSIS
- Somatic cell division in which
the DNA replicates and is evenly
distributed to two equal
daughter cells.
MEIOSIS
- Germ / sex cell division that
occurs at the gonads.
- A single DNA replication is
followed by two cell divisions
which reduce the total DNA
content of a cell from 2N to N.
NONDISJUNCTION
- Failure of chromosomes or
chromatids to separate to
opposite poles in cell division.
- Usually results in one too many
or one too few chromosomes in
a cell.
TELOMERE
- The end part of the
chromosome.

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-

These regions are known to be

composed of repeated DNA with
the sequence (TTAGGG)n.

CYTOGENETICS
- A s a laboratory science
involves the careful evaluation
of the chromosomes.
- Chromosomes are structures
composed of double stranded
DNA that is complexed by both
histone and nonhistone
proteins.
NORMAL CHROMOSOME
- Normal Human Chromosomes =
46
- Ordered in = 23 pairs
- Autosome = 22 pairs
(homologous in both sexes)
- Allosomes = 23rd pair
(Homologous in female, nonhomologous in male)

PROGENITOR CELLS
- Hypothetical ancestral cell from
which all living cells are derived.
- 3 DOMAINS:
a. Eukarya
b. Eubacteria
c. Archaea
Eukarya

Eubacteri
a

Archaea

Ribosome
Size
Plasmids
Introns

80s

70s

70s

none
yes

Classification

Eukaryotic

yes
none
Prokaryoti
c

yes
yes
Prokaryot
ic

Membrane
Bound
organelles

Present

Absent

Absent

Cellular
Oragnization

Mostly
Multicellul
ar

Mostly
Unicellular

Mostly
Unicellula
r

Nucleus

Nucleoid

Nuceloid

Unbranch
ed

Unbranch
ed

May be
branched

Ester
Bond

Ester
Bond

Ether
Bond

Nuclear
Material
Found In
Lipid
Membrane
Branching
Fatty Acid
linkage to

glycerol
Peptidoglycan
DNA
replication,
Gene
Expression

Absent

Present

Absent

Eukaryotic

Prokaryoti
c

Similar to
Eukaryot
es

ROBERT HOOKE
- 1665
- Coined the term cells in his
studies of cork
ANTON VAN LEEUWENHOEK
- 1674
- Invented the light microscope
- Observed bacteria/protozoa
MATTHIAS SCHLEIDEN AND THEODORE
SCHWANN
- 1839
- Postulated cell theory
- Cells as the basic unit of life or
elementary particles of
organisms.
RUDOLF VIRCHOW
- 1858
- Omnis cellula e cellula all cells
come from pre-existing cells.

CELL THEORY
1. All living organisms have one or
more cells.
2. The cell is the basic unit of life.
3. All cells come from pre-existing
cells.
CELLS
- Degree of Organization
a. Unicellular
b. Multicellular
- Cells have the ability to
exchange materials with their
surroundings.
- Cells have the ability to
transform energy.
- Cells have the ability to grow
whether in size or number.
- Cells have the ability to
reproduce independent progeny.

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measured as 30 nm fiber
chromatin.

BASIC PARTS OF THE CELL

EUKARYOTIC

Cytoplas
mic
Membran
e

Cytoplas
m

-Selective
-Semi-permeable
-Bilipid Layer

Functions:
-secretion of
intracellular
enzymes
-nutrient transport
-cell wall synthesis
Everything
contained within the
cytoplasmic
membrane except
the nuclear region
-Contains ribosomes

Functions:
-Secretion of
intracellular
enzymes
-nutrient transport
-cell wall synthesis
Everything
contained within the
cytoplasmic
membrane except
the nuclear region
-Contains ribosomes

Membrane Bound
Orgs
-Mitochondria
-Chloroplasts
-Endoplasmic
Reticulum
-Golgi Apparatus
-Cytoskeleton
N/A

-NO membrane
bound orgs
-Some with
plasmids
-Contains
inclusions /
inclusion granles

Special
Features

Special
Structure
s

DNA
-

PROKARYOTIC

-Selective
-Semi-permeable
-Bilipid Layer

-Genetic Material
-DNA (double helix)
-Controls cellular
reproduction
- Membrane bound
Nucleus

Cell wall
Capsule,
Glycocalyx, Slime
Layer
Fimbriae and Pili
Flagella
Axial Filaments
Endospore
-Genetic Material
-DNA (single
circular)
-Controls cellular
Reproduction
-Not Membrane
bound nucleoid

A single cell about 6 ft long

HISTONES
- Basic protein acting as a spool
where DNA winds.
NUCLEOSOME
- Basic unit of DNA packaging
(around 8 histone protein core)
SOLENOID
- Packing of DNA from the helical
winding of at least 5
nucleosomes strands usually

METAPHASE CHROMOSOMES
- A single metaphase
chromosome = 2pcs DNA
double helices.
CHROMATIDS
- The two chromatids are
conjoined by a primary
constricted region known as
centromere.
CENTROMERE
- The constricted region
- Not only function in cell division,
but also acts as a landmark
that divides the chromosome
into two regions: short arm and
longer arm.
TELOMERE
- (TTAGGG)n
- Functions to stabilize the
chromosomes
- The shortening of the telomeres
over time leads to increase in
chromosomal aberrations, which
may be in part, responsible for
Human aging process.
CENTROMERE LOCALIZTIONS
1. METACENTRIC
o Chromosome form when
centromere is
approximately
equidistant from both
ends.
2. SUB-METACENTRIC
o Chromosome form when
centromere is closer to
one end than the other.
3. ACROCENTRIC
o Chromosome form when
chromosome have
modified short arms that

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are capped by a modified
telomere.
4. TELOCENTRIC

Chromosome form where

centromere is localized as
the telomere.