PART I.

CYTOGENETICS
 CHROMOSOME

Images from Yaping Wang and Brian Fristensky, University of Manitoba.

http://www.biology.arizona.edu/cell_bio/activities/cell_cycle/cell_cycle.html
Photo from Genetics Science Learning Center, University of Utah

Tessa Robinson '06, Genetics and Molecular Biology Laboratory (BIO233), Fall 2002.
(mun.ca)
biology.iastate.edu
TRIDAX YELLOW VINE
http://images.slideplayer.com/
upload.wikimedia.org
FISH with 18S ribosomal DNA
A. BASIC TENETS OF
CYTOGENETICS
 DEFINITION
Cytology + Genetics

classic branch of Genetics

field of genetics that studies chromosomal

features responsible for the expression of
heritable characteristics
BASIS OF CYTOGENETICS
1. chromosome structure

2. chromosome behavior during

cell division

3. genetic consequences of
chromosomal behavior
EVENTS THAT LED TO THE FIELD OF CYTOGENETICS

1. Cell Doctrine
- Matthias Schleiden
- Theodor Schwann
- Rudolf Virchow

“The cell is the fundamental unit of structure

and function in all living organisms.”
“All forms of life are
composed of cells”.

Theodor Schwann Matthias Schleiden

“Cells arise only from
pre-existing cells.”

Rudolf Virchow
www.creationism.org
EVENTS THAT LED TO THE FIELD OF CYTOGENETICS

2. Mendel’s principles of
heredity

- Principle of Segregation
- Principle of Independent
Assortment
EVENTS THAT LED TO THE FIELD OF CYTOGENETICS

3. Universality of cell division as the

central phenomenon in reproduction

2n n

fertilization: n + n = 2n
 EVENTS THAT LED TO THE FIELD OF CYTOGENETICS

4. Chromosome Theory
of Inheritance
“The chromosomes are the physical
carriers of the genes.
The behaviour of the chromosomes
during meiosis could explain
Mendelian Principles.”
Walter Sutton Theodor Boveri
 CORRELATIONS BETWEEN MENDELIAN FACTORS
AND CHROMOSOMES

a.
Chromosomes exist in pairs.
Mendelian factors exist in pairs.
b.
Homologous chromosomes
pair (zygotene) and separate
during meiosis (anaphase I).

Mendelian factors (alleles) pair

and separate.

med2.knu.ac.kr
 CORRELATIONS BETWEEN MENDELIAN FACTORS AND
CHROMOSOMES

c.
Chromosomes combine
during fertilization.

Alleles in the chromosomes

come together during
fertilization.

(2 alleles = gene pair)

LAW OF INDEPENDENT SEGREGATION
LAW OF SEGREGATION

replication Metaphase I

A a AA aa

Anaphase I

AA aa
 Anaphase I
(separation of II into I)
AA aa

Anaphase II
(separation of
A A a a sister chromatids)

A A a a Gametes
Purves et al. Life 7th ed.
Let,
Aa
LAW OF INDEPENDENT ASSORTMENT
INDEPENDENT ASSORTMENT
e.g. 2 chromosomes in haploid (2n = 4; n = 2)
2n = 22 = 4 possible combinations
Number of chromosome combinations in different gametes = 2n

Where,
n = haploid chromosome number

Example: man, 2n = 46
= 223
= 8.39 million possible combinations of
chromosomes
During metaphase I,
the bivalents can
align themselves in
two different ways

Independent
assortment
of the R/r
and Y/y
alleles
EXERCISE: FINDING THE GAMETES…

B AB
Given: AaBb
A
Take each gene pair b Ab
independently.
B aB
a
b ab
SEATWORK:

Enumerate the gametes and

give the proportion of each.
a. Aabb
b. AAbb
c. AaBbcc
d. AabbCCDd
B. PROKARYOTIC AND
EUKARYOTIC GENOME
PROKARYOTIC GENOME

 circular
 highly folded (supercoiled) -Histone like
-capable of wrapping around
 naked DNA DNA to stabilize it
 associated with small proteins -Heterotypic dimer, made up of
HU alpha and beta
- HU-beta
- H-NS
binds tightly to AT-rich dsDNA.
 in the nucleoid
EUKARYOTIC GENOME

Components:

1. By Abundance
a. unique sequence
- single copy, non repetitive

b. moderately repetitive
- 10 to 10,000 copies per genome
- dispersed repeats
- highly conserved gene families

c. highly repetitive DNA

- 100,000 to 1,000,000 copies/genome
- tandem repeats
Moderately Repetitive

http://image.slidesharecdn.com/
EUKARYOTIC GENOME

Components:

2. By Function
 a. genic DNA
- expressed genes
- mDNA (protein coding)
- rDNA, tDNA, DNA for small RNA

rDNA Genes
b. regulatory DNA
- promoters, enhancers
- regulation of DNA function

http://archive.cnx.org/contents/d905928c-7b6f-400f-8d6b-
7934d5505ab0@1/bis2a-8-3-transcription
c. intergenic DNA, spacer DNA
- introns
- DNA which separate genes
d. satellite DNA
- highly repetitive
- centromeric
- telomeric
e. junk DNA
- no assigned function

http://www.sciencemag.org/news/2016/08/junk-
dna-tells-mice-and-snakes-how-grow-backbone