References:
1-Biochemistry, Molecular
Biology, and Genetics.Fifth edition
2-An Introduction to Genetic Analysis
Eighth Edition
Anthony J.F. Griffiths (U. of British Columbia
3- Essentials of
Medical Genetics for
Health Professionals
Laura M. Gunder, DHSc, MHE, PA-C
Assistant Professor
Physician Assistant Department
School of Allied Health Sciences
Medical College of Georgia
Augusta, Georgia
Copyright © 2011 by Jones & Bartlett Learning, LLC
Basic Genetics
By : Dr. Salah Elsadig
Associate professor of Biochemistry
Genetics is the study of biologically
inherited traits determined by elements of
heredity (Genes) that are transmitted from
parents to offspring in reproduction.
Genomics (Total amount of genetic material
in nuclear chromosomes). Chromosomes are
the means by which the genes are
transmitted from generation to generation.
Each chromosome is a complex of protein
and nucleic acid in which an unbroken
double helix of DNA is tightly wound Genes
are found along the length of chromosomes.
A variety of highly complicated and
integrated processes occur within the
chromosome, including DNA replication,
recombination, and transcription. In the
nucleus of each of their somatic cells,
humans normally have 46 chromosomes,
which are arranged in 23 pairs.
One of these pairs, consisting of the sex
chromosomes X and Y, determines the
sex of the individual; females have the
pair XX and males have the pair XY. The
remaining 22 pairs of chromosomes are
called autosomes.
The study of heredity started
with the work of Gregor Mendel and his
pea plant garden
Mendel noted that the size of pea
plants varied. He cross-bred these
pea plants to find some surprising
results.
Mendel’s cross between tall pea plants yielded all
tall pea plants. His cross between small pea plants
yielded all small pea plants.
X = X =
Mendels’ cross between tall pea plants and small pea
plants yielded all tall pea plants.
x =
Mendel then crossed these second generation tall pea
plants and ended up with 1 out 4 being small.
x =
Mendel’s work led him to the understanding
that traits such as plant height are carried in
pairs of information not by single sets of
information.
-Carrying the information are chromosomes.
-Chromosomes are made up of sections
called genes.
-Genes are made up of DNA
DNA
DNA - Deoxyribonucleic Acid
Molecule made of:
1. Deoxy Sugar
2. Combination of four nitrogen bases
Either: a. Guanine
b. Cytocine
c. Thymine
d. Adenine
DNA
• Nitrogen bases pair up
– Cytosine & Guanine
– Thymine & Adenine
• Pairing creates a ladder shape
• Angle of bonds creates a twist
Ladder and Twist produces the famous
“Double Helix”
DNA
Nucleus
Cell
• DNA resides in all cells
DNA
– Inside the nucleus
• Each strand forms a chromosome
DNA
DNA is found in all living cells
– It controls all functions
inside a cell
– It stores all the genetic
information for an entire
living organism
– Single cell like an amoeba
– Multi cell like a human
Small sections of DNA are responsible for a
“trait”. These small sections are called
“Genes”.
– Gene - A segment of DNA that codes for a
specific trait
– Trait - A characteristic an organism
can pass on to it’s offspring through
DNA
Gene
There are three basic kinds of genes:
– Dominant - A gene that is always expressed
and hides others
– Recessive - A gene that is only expressed
when a dominant gene isn’t present
– Codominant - Genes that work together to
produce a third trait
Dominant and Recessive Genes
Widows Peak
• A dominant gene will always
mask a recessive gene.
• A “widows peak” is dominant,
not having a widows peak is recessive.
• If one parent contributes a
gene for a widows peak, and the other
parent doesn’t, the off- spring will
have a widows peak.
Punnet Square - A tool we use for predicting
the traits of an offspring
– Letters are used as symbols to designate genes
– Capital letters are used for dominant genes
– Lower case letters are used for
recessive genes
– Genes always exist in pairs
A Widows Peak, dominant, would be symbolized
with a capital “W”, while no widows peak,
recessive, would be symbolized with a
lower case “w”.
Father - No Widows Peak - w
Mother - Has a Widows Peak - W
All organisms have two copies of each gene, one
contributed by the father, the other contributed
by the mother.
Homozygous - Two copies of the same gene
Heterozygous - Two different genes
For the widows peak:
WW - has a widows peak Homozygous dominant
Ww - has a widows peak Heterozygous
ww - no widows peak Homozygous recessive
Since Herman has no widows peak, he must be “ww”,
since Lilly has a widows peak she could be either
“WW” or “Ww”
Definitely ww Homozygous
recessive
Either Ww Heterozygous
or WW Homozygous
dominant
We can use a “Punnet Square” to determine
what pairs of genes Lilly has
• A Punnet Square
begins with a box 2 x 2
Assume Lilly is heterozygous
Ww • One gene is called an
“allele”
Assume Herman is homoozygous W w • One parents pair is
recessive split into alleles on top,
ww the other along the side
w Ww ww
• Each allele is crossed
w Ww ww with the other allele to
predict the traits of the
offspring
Notice that when Lilly is crossed with Herman,
we would predict that half the offspring
would be “Ww”, the other half would be
“ww”
Half “Ww”, Heterozygous, and will
have a widows peak W w
Half “ww”, Homozygous, and w Ww will
ww
not have a widows peak
w Ww ww
Another possibility is that Lilly might be
“WW”, homozygous dominant.
Assume Lilly is homozygous
dominant
WW
Assume Herman is homoozygous W W
ww Notice that all the
offspring are
w Ww Ww heterozygous and will
have a widows peak
w Ww Ww
So which is true? Is Lilly homozygous
dominant (WW) or is she heterozygous
(Ww)?
W w W W
w Ww ww w Ww Ww
w Ww ww w Ww Ww
If Lilly were heterozygous, If Lilly were homozygous, all
then 1/2 of their offspring of their children will have a
should have a widows peak, widows peak
1
/2 shouldn’t
W w W W
w Ww ww w Ww Ww
w Ww ww w Ww Ww
Dominant Traits
Each person has two genes for every trait.
• Dominant physical characteristics will show up unless
both genes code for the recessive trait.
Dominant trait: Unattachead earlobes, “U”
Recessive trait: Attached earlobes, “u”
If your genes code: You will have:
UU Unattached Attached Unattached
Uu Unattached “u” “U”
uu Attached
Recall that Herman and Lilly had another
offspring, Marylin. She had no widows peak,
therefore, Lilly must be heterozygous.
