HISTOLOGY LEC
NOTES TO REMEMBER
1. Chromosomes vs Chromatin
Chromatin lower order of DNA organization, complex of DNA packaged by
histones
Chromosome higher order of DNA organization, complex of chromatin,
result of the condensation of chromatin
Chromatin
Definition In the nucleus, the DNA double
helix is packaged by special
proteins (histones) to form a
complex called chromatin. The
chromatin undergoes further
condensation to form the
chromosome.
Structure Composed of nucleosomes-a
complex of DNA and proteins
(called histones). Represent
DNA folded on nucleoproteins
by a magnitude of 50. The
chromatin fiber is app. 10 nm
in diameter.
Appearan Chromatin Fibers are Long and
ce thin. They are uncoiled
structures found inside the
nucleus.
Pairs Chromatin is unpaired.
Metabolic Permissive to DNA replication,
activity RNA synthesis (transcription)
and recombination events.
Presence Found throughout the cell
cycle.
Conforma May have open (euchromatin)
tion or compact (heterochromatin)
conformations, which is
dynamically regulated during
the cell-cycle stages.
Visualizat Electron microscope (beads on
ion string appearance)
Chromosome
A compact structure of nucleic
acids and protein found in the
nucleus of most living cells,
carrying genetic information in
the form of genes.
Chromosomes are condensed
Chromatin Fibers. They are a
higher order of DNA organization,
where DNA is condensed at least
by 10,000 times onto itself.
Chromosomes are compact, thick
and ribbon-like. These are coiled
structures seen prominently
during cell division.
Chromosome is paired.
Refractory to these processes
because they are tightly coiled.
Distinctly visible during cell
division (metaphase, anaphase)
as highly condensed structures
upto several thousand nm.
Predominantly heterochromatic
state with a predetermined
position in the nucleus and a
specific shape such as
metacentric, submetacentric,
acrocentric, telocentric.
Light microscope (classic four-
arm structure when duplicated)
 2. Alleles

An allele is an alternative form of a gene (one member of a pair) that is

located at a specific position on a specific chromosome.
These DNA codings determine distinct traits that can be passed on
from parents to offspring through sexual reproduction.
The process by which alleles are transmitted was discovered by Gregor
Mendel and formulated in what is known as Mendel's law of
segregation.
Each gene consists of two alleles: one comes from the mother
and one from the father.
Some alleles are dominant, meaning they ultimately determine
the expression of a trait.
Other alleles are recessive and are much less likely to be
expressed.
When a dominant allele is paired with a recessive allele, the
dominant allele determines the characteristic.
Dominant Recessive
About When an allele is dominant, When an allele is recessive,
the characteristic it is the characteristic it is
connected to will connected to is less likely to
be expressed in sexually- be expressed. Recessive
reproduced offspring. traits only manifest when
both parents carry a
recessive trait or have fully
recessive traits to pass down.
Documentation Upper case letter (T) Lower case letter (t)
Examples
eye coloring brown eyes grey, green, hazel, blue eyes
vision farsightedness normal vision
normal vision nearsightedness
normal vision night blindness
normal vision color blindness*
hair dark hair blonde, light, red hair
non-red hair red hair
curly hair straight hair
full head of hair baldness*
widow's peak normal hairline
facial features dimples no dimples
unattached earlobes attached earlobes
freckles no freckles
broad lips thin lips
cleft chin smooth chin
appendages extra digits normal number
fused digits normal digits
short digits normal digits
fingers lack 1 joint normal joints
limb dwarfing normal proportion
clubbed thumb normal thumb
double-jointedness normal joints
bent pinkie normal pinkie
other immunity to poison ivy susceptibility to poison ivy
normal pigmented skin albinism
normal blood clotting hemophilia*
normal hearing congenital deafness
normal hearing and speaking deaf mutism
normal- no PKU phenylketonuria (PKU)
righthandedness lefthandedness
rolling of tongue non rolling of tongue

3. Genotype vs Phenotype

4. Autosomes
a. Homozygous vs Heterozygous
5. Karyotyping
6. Characteristics of Different Chromosomal Abrasion
a. Down Syndrome
b. Turner Syndrome
c. Kline Felter Syndrome
d. Criduchat Syndrome
e. Edwards Syndrome
f. Pattau Syndrome