General Embryology (Part A)

• The Cell

• Cell Division; Mitosis and Meiosis

• Chromosome Theory of Inheritance

 Definition of a cell:
 Basic, structural and functional unit of life

 the smallest units that display the

characteristics of life,

 i.e. reproduction, metabolism, response to

stimuli
 General Subdivisions of a Cell

• Plasma Membrane = selectively permeable

boundary between the cell and the
environment

• Nucleus = regulatory center of the cell

• Cytoplasm = everything between the plasma

membrane and the nucleus (fluid + organelles)
Cell Structure Overview
 Cell or Plasma Membrane
• Composed of double layer of phospholipids and
proteins
• Surrounds outside of ALL cells
• Controls what enters or leaves the cell
• Living layer
Outside
of cell
Carbohydrate
chains
Proteins
Cell
membrane

Inside
of cell Protein
(cytoplasm) channel Lipid bilayer 6
 Cytoskeleton
• Helps cell maintain cell
shape
• Also help move
organelles around
• Made of proteins.
• Microfilaments are
threadlike & made of
ACTIN
• Microtubules are tubelike
& made of TUBULIN

7
 Cytoplasm of a Cell
cytoplasm
• Jelly-like
substance
enclosed by cell
membrane
• Provides a
medium for
chemical
reactions to
take place 8
The Control Organelle - Nucleus
• Controls the normal

activities
of the cell
• Contains the DNA in
chromosomes
• Bounded by a

nuclear envelope 9
 The genetic material (DNA) is found in
the Nucleus

• DNA is spread out DNA is condensed & wrapped

and appears as around proteins forming as
CHROMATIN CHROMOSOMES in
dividing cells
in non-dividing cells
 Nucleolus

• Usually found Inside

the nucleus
• Disappears when cell
divides
• produces ribosomes
that make proteins
 Cell Division
• Cell division is the basis for all forms of
reproduction.

• Single-celled organisms divide to reproduce

• In order for a cell to divide, the genome must also

divide,

• Therefore in all types of cell division DNA

replication precedes cell division.
 Cell
Division
could be
defined as the
duplication of
preexisting cell
 Mitosis
• Is the cell division which produces equal number of
chromosome

• identical to the mother cell with complete transfer

of all genetic content.

• Period between two successive division is called

INTERPHASE

• it has four phases; Prophase, Metaphase,

Anaphase and Telophase
 1.
condensing
Prophase
chromatin
nucleus chromosomes • chromosomes
nucleolus becomes
distinct
• as they begin
to coil and
contract,
• centrioles
centrioles move apart
 2. Metaphase
• chromosomes align along equator of the
cell and attached to the spindle
• with one kinetochore facing each pole

centrioles
chromosomes

spindle fibers
 3. Anaphase
• Centromeres split

•sister chromatids separate

• spindle fibers attached to

kinetochores shorten and
pull chromatids towards the
poles.

• Each chromatid becomes an

independent chromosome
 4. Telophase
• spindle fibers disintegrate

• nuclear envelopes form around

both groups of chromosomes

•chromosomes revert to their

extended state

• cytokinesis occurs, enclosing each

daughter nucleus into a separate cell
Meiosis; is the cell division that takes
place in gametes

- A single germ cell divides into four unique daughter cells.

- Daughter cells have half the number of chromosomes as parent

cell, so they are considered haploid.
• It consist of two successive divisions;
First meiotic Division;

• PROPHASE I- is the most prolonged phase and is

divided into four stages;

• Leptotene: Chromosomes becomes visible as in

mitosis

• Zygotene: homologous chromosomes start to pair up,

through a process called SYNAPSIS/
CONJUGATION. The paired chromosome makeup
a Bivalent
• Pachytene: chromatids of each chromosome
becomes distinct,

• the bivalent now has four chromatids called a

tetrad

• nuclear membrane breaks down.

• Crossing over occurs as central chromatids

become coiled around each other

• so they cross at a number of points

• at the point of crossover the chromatids adhere
to each other, that point is called Chiasmata.

• Diplotene: The chromosomes of a bivalent

move apart;

• the chromatids that cross over and breaks at

the point of crossing

• resulting in exchange of genetic material

between the chromatids
• Metaphase I- spindle fibers attach,
homologous chromosomes pair up on either
side of cell equator.

• Anaphase I- homologous chromosome pulled

to opposite poles, without splitting of
centromeres

• Telophase I- spindle fibers disassemble,

giving rise to two genetically unique haploid
cells.
• Second Meiotic Division; divides sister
chromatids; similar to mitosis

• Prophase II- homologous chromosomes start to

pair up, nuclear membrane breaks down
• Metaphase II- spindle fibers align chromosomes
along equator
• Anaphase II- sister chromatids pulled apart to
opposite poles
• Telophase II- nuclear membrane reforms, and four
genetically unique haploid cells are formed.
Genetics Terminology: Ploidy

Refers to the number of sets of

chromosomes in cells.

● Haploid – one copy of each

chromosome
– designated as “n”, the
number of chromosomes in one “set”
- gametes

● Diploid – two sets of chromosomes

– designated as “2n”
-somatic cells
 Homologues
Chromosomes exist in homologous pairs in diploid (2n)
cells.

Except the Sex chromosomes (X, Y).

Other chromosomes, known as autosomes, have

homologues.
 Chromosome Theory of Inheritance
• Genetic traits are determined by specific genes on
chromosomes inherited from the father and the
mother.

• Humans have about 35,000 genes on 46

chromosomes.

• Genes on the same chromosome, inherited together

are known as linked genes.

•
• In somatic cells, chromosomes appear as 23
homologous pairs to form the diploid number
of 46.

• There are 22 pairs of chromosomes

(autosomes), and one pair of sex
chromosomes.
• If the sex pair is XX, the individual is genetically
female; if the pair is XY, the individual is genetically
male.

• One chromosome of each pair is derived from the

maternal gamete (oocyte), and one from the paternal
gamete (sperm).

• Each gamete contains a haploid number of 23

chromosomes, and the union of the gametes at
fertilization restores the diploid number of 46.
 Clinical Correlates
• Chromosomal abnormalities: is the source of
most birth defects
There are two types, namely;
1.Numerical
2.Structural
 Numerical Chromosomal Abnormality
• Abnormalities in chromosome number may originate
during meiotic or mitotic divisions.

• In meiosis, two members of a pair of homologous

chromosomes normally separate at the first meiotic
division

• each daughter cell receives one member of each pair.

• Sometimes, separation does not occur

(nondisjunction), and both members of a pair move
into one cell .
• As a result of nondisjunction of the chromosomes,
one cell receives 24 chromosomes,

• and the other receives 22 instead of the normal 23.

• at fertilization, a gamete having 23 chromosomes

fuses with a gamete having 24 or 22 chromosomes,

• the result is an individual with either 47

chromosomes (trisomy) or 45 chromosomes
(monosomy).
• Sometimes chromosomes break, and pieces of one may attach
to another (Translocation).

• It may be balanced, in which case breakage and reunion occur

between two chromosomes but no genetic material is lost and
individuals are normal;

• or unbalanced, whereby part of one chromosome is lost and

an altered phenotype is produced.

• unbalanced translocations between the long arms of

chromosomes 14 and 21 during meiosis

• produce gametes with an extra copy of chromosome 21, one of

the causes of Down syndrome
 Clinical conditions from abnormal
Chromosome number
• Trisomies;

• Down syndrome (Due to an extra copy of

chromosome 21) Features include;

• growth retardation; varying degrees of mental

retardation; craniofacial abnormalities

• epicanthal folds (extra skin folds at the medial

corners of the eyes), flat facies, and small ears;
cardiac defects;
• TRISOMY 18 - EDWARD SYNDROME;
Features:
• mental retardation, congenital
• heart defects, low-set ears, and flexion of fingers and
hands; micrognathia, renal anomalies, syndactyly,
• and malformations of the skeletal system.

• Trisomy 13 - PATAL SYNDROME; Features

• mental retardation, holoprosencephaly,
• congenital heart defects, deafness, cleft lip and palate,
• eye defects, such as microphthalmia, anophthalmia,
and coloboma
• Klinefelter syndrome:
Found only in males and usually detected at
puberty; Features include;
1. Sterility,
2. Testicular atrophy
3. hyalinization of the seminiferous tubules
4. gynecomastia.

The cells have 47/48 chromosomes with a sex

chromosomal complement of the XXY/XXXY type,
and a sex chromatin body (Barr body: formed by
condensation of an inactivated sex chromosome;

• Incidence rate is 1 in 500 males. Nondisjunction of

the XX homologues is the most common cause.
• Monosomy
• Turner syndrome, with a 45,X karyotype, is the only
monosomy compatible with life.

• 98% of all fetuses with the syndrome are

spontaneously aborted.
• The few that survive are female in appearance
characterized by the absence of ovaries (gonadal
dysgenesis).

• Other features include;

• short stature webbed neck, skeletal deformities, and a
broad chest with widely spaced nipples.
Structural chromosome abnormalities
• It usually result from chromosome breakage. Breaks
are caused by environmental factors, such as viruses,
radiation, and drugs.

• The result of breakage depends on what happens to

the broken pieces.

• In some cases, the broken piece of a chromosome is

lost, and the infant with partial deletion of a
chromosome is abnormal.
• A well-known syndrome, caused by partial
deletion of the short arm of chromosome 5, is
the cri-du-chat syndrome.

• Such children have a catlike cry, microcephaly,

mental retardation, and congenital heart
disease.

• Microdeletions may occurs on the long arm

of chromosome 15
• Inheriting the deletion on the maternal chromosome
results in Angelman syndrome;

• And the children are mentally retarded, cannot speak,

exhibit poor motor development;prone to unprovoked
and prolonged periods of laughter.

• If the defect is inherited on the paternal chromosome,

results in Prader-Willi syndrome;

• affected individuals are characterized by obesity,

mental retardation, hypogonadism, and
cryptorchidism
TYPES OF STRUCTURAL CHROMOSOMAL
ABNORMALITIES

1.Deletion: This occurs when there is a cutoff off

a part of a chromosome.
2.Translocation: In translocation, the
chromosome is cut/removed and fixed to
another chromosome. Sometimes, the
chromosome can get lost.
3.Invertion: Chromosomes can be removed and
fixed again to the origin, but in the wrong
position. This is known as INVERTION.
4.Duplication: Sometimes one chromosome can
have two ends, i.e two Q ends.
5.Isochromosome: This is characterised by the
loss of one arm.
6.RingChromosome: Chromosome breaks off
on both ends and then refixes in a ring
structure.