MIDTERM LESSON IN GENETICS 1
ION CHANNEL DEFECTS
Channelopathies-are disease caused by
distributed function of ion
channel subunits or
the proteins that regulates
them.
Electrical Signals-are critical for the
functions of
neurons, muscle cells, and
cardiac
myocytes.
Proteins-which regulate electrical signalling
in this
cells, including voltage gated ion
channel,
are logical sites where abnormality
might
lead to disease.
Genetic and Biophysical Approaches
 Are being used to show that several
disorders result from mutations in
voltage gated ion channels.
FOR EXAMPLE:
1. Migraine, headache and some forms
of epilepsy have been shown to
result from mutations in voltage
gated Ca2+¿ ¿channel genes.
2. QT syndrome is known to result
from mutations in either K +¿¿ or
Na+¿¿channel genes.
Where Channelopathies cause by?
 Genetic
 Mutations
 Biophysical
Myocytes-also known as muscle cell, they
are long, tubular cells that develop from
myoblasts.
Mutations-is a change that occurs in our
DNA sequence, either due to mistakes
when the DNA is copied or as the result of
environmental factors.
CELL CYCLE
2 Types of Cell Cycle:
 Mitosis-is a process of forming
identical daughter cells by
replicating and dividing the original
chromosomes, in effect making a
cellular Xerox.
 Meiosis-a process where a single
cell divides twice to produce four
cells containing half the original
amount of genetic information.
2 Phases of Cell Cycle:
a.) Interphase-DNA replication
 G1-longest period within
several days and maturity of
the genetic information
 S phase - shorter period
within an hour only.
 G2 phase -matured DNA can
proceed to mitosis.
4 Phases of Mitosis:
1.) Prophase-the word “pro” in
prophase means before.
-the first stage of Mitosis,
DNA coils tightly.
2.) Metaphase-the first letter of
metaphase which is “M” stands for
middle.
-where chromosomes
attach to the spindle at their
centromere and align along
the centre of the cell, which
is called the “equator”.
3.) Anaphase-the first letter of
anaphase which is “A” stands for
away.
-the plasma membrane
indents at the centre, where
the metaphase
chromosomes line up.
4.) Telophase-the final stage of mitosis,
the cell looks like a dumbbell with a
set of chromosomes at each end.
-where the new cells
separate.
Chromosomes-are made up of DNA and
protein combined as chromatin.
Chromatids-paired duplicated chromosome
during joined by a single centromere.
Chromatin-is the coplex combination of
DNA and proteins that makes up
chromosomes.
Gametes-are the cells used during sexual
reproduction to produce a new individual
organisms or zygote.
Note:
 In humans there is 1 set of 23
chromosomes for the female and 1
set of 23 chromosomes for the
male.
 If both sex combined we end up
with 46 chromosomes.
 During interphase the cell duplicates
the chromosomes, when you
duplicate 46 chromosomes, you still
say there are 46 chromosomes if the
newly duplicated portion still attach
at the centromere region but there
are actually 92 chromatids.
MITOSIS
 Skin cell
 Stomach cell
 Makes body cells
MEIOSIS
 Sperm cell
 Egg cell
 Makes gametes
*Both mitosis and meiosis involved in
making new cells.
*2 daughter cells in mitosis call them
“diploid” while 4 daughter cells in meiosis
call them “haploid”.
Homologous-means that the chromosomes
are approximately the same size and they
contain the same type of genes at the same
location.
DIFFERENCE OF MITOSIS AND MEOSIS:
 Mitosis involves the division of body
cells, while meiosis involves the
division of sex cells. The division of a
cell occurs once in mitosis but twice
in meiosis. Two daughter cells are
produced after mitosis and
cytoplasmic division, while four
daughter cells are produced after
meiosis.
CANCER CELLS & APOPTOSIS:
Cancer Cells-the substances that causes
cancer are called “carcinogen”.
-is the uncontrolled growth of
abnormal cells in the body.
-caused by accumulated
damage of genes.
Types of Cancer:
a.) Carcinomas-begins in the skin or
mostly in tissues. One of the
common type of cancer
EXAMPLE:
 Prostate Cancer-for male
 Breast Cancer-for female
 Lung Cancer-common for male,
smokers.
 Colorectal Cancer-focuses on
intestines.
b.) Sarcomas-sarcoma begins in the
tissues that support and connect the
body.
-a sarcoma can develop in
fat,muscles,nerves,tendons,
joints,blood vessels,lymph
vessels,cartilage, or bone.
c.) Leukemia-it is also known as the
cancer of the blood.
-begins when healthy
blood cells change and grow
uncontrollably.
4 Types of Leukemias:
1. Acute lymphocytic leukaemia
2. Chronic lymphocytic leukaemia
3. Acute myeloid leukaemia
4. Chronic myeloid leukaemia
Note:
 Acute-means sudden/biglaan
 Chronic-accumulation
 *If in lymphocytic it involves
lymphocyte and monocyte.
*If in myeloid it involve meutrophil,
basophil, and eosinophil.
d.) Lymphomas-begins in lymphatic
system.
-the lymphatic system is
a network of vessels and
glands that help fight
infection.
2 Main Types:
a.) Hodgkin Lymphoma-is a type of
lymphoma in which cancer
originates from a specific type of
white blood cells called
lymphocytes.
b.) Burkitt Lymphoma-is a form of non-
Hodgkin’s lymphoma in which
cancer starts in immune cells B-cells.
Associated with impaired immunity
and is rapidly fatal is left untreated.
*55% of our blood is RBC while the rest are
divided by WBC, platelets, and Plasma.
*WBC and platelets are the lowest.
Apoptosis
 Program cell death/ cellular suicide.
 Collection by immune cells
 Remove cells during development,
eliminated potentially cancerous
and virus-infected cells, maintains
balance in the body.
Necrosis
 Normal cells dies because of injury.
Splin
 Found at the back of stomach.
 Where the gateway of dead cells.
Apoptosis vs. Necrosis
 They are killed by things that harm
them (such as toxic, chemical, or
physical injury), a process called
necrosis.
CHROMOSOMES
Morphology-physical appearance.
-Morphe means “form and
logres means “word”.
3 Main Types:
a.) Cellular Morphology-is essential in
identifying the shape, structure,
form, and size of cells.
b.) Tissue Morphology-typical
applications involve observing shape
changes of grooves, pores, blebs or
microvilli on the cellular.
c.) Organ Morphology
Epithelial Cells-are cells that come from
surfaces of your body, such as your skin,
blood vessels, urinary tract, or organs.
Squamous
 Means wide.
 Are thin, flat cells that look like fish
scales, and are found in the tissue
that forms the surface of the skin.
Cuboidal
 Means cubed.
 It is a single layer thick and made of
cube-shape cells.
Columnar
 Means rectangular
*Chromosomes-has 2nm-4nm plant.
*DNA-has 2nm thick and present inside the
chromosomes.
*1 nucleosome=200 HP
*Nucleus-is the smallest molecule inside
the chromatin.
*Tetramer-means four
*Linker DNA-has the same structure.
DNA+Protein=Histones
*50% genes from the mother and 50%
genes from the father.
Special Type of Chromosomes
 Special because not all the species
possess this types of chromosomes.
1.) Salivary Gland
 Also known as polytene.
  This chromosomes undergo
complete stomatic pairing to form
units of identical chromosomes
joined their length (in parallel) to
one another.

Polytene-are chromosomes found in the

interphase nuclei and the salivary gland
cells in larvae diptera.
Diptera-another species of bacteria
chromosomes. Also known as
Corynebacterium diptheriae.

2.) Lampbrush Chromosomes-this are

the largest known chromosomes
found in the yolk-rich oocytic nuclei
of certain vertebrates such as fishes,
amphibians, reptiles, and birds.

Female-XX gene
Male-XY gene
Sperm Cell-the one who dictates the baby’s
gender.

KARYOTYPE IN MAN
Karyotyping
 Picture of a person’s chromosomes
 The chromosomes are isolated
stained and examined under the
microscope.

WBC-soldiers of the human body.