BASIC PRINCIPLES

OF GENETICS

facebook.com/groups/dermatologycourseonline
Coiling of DNA
1ry coiling of the duplex itself.
2ry coiling around histone beads
(nucleosome).
3ry coiling of nucleosomes (chromatin
fibers).
4ry coiling forming loops.
Structure of DNA
Two polynucleotide strands
Two chains run in opposite direction
Sugar backbone
Bases inside helix in Complementary
base pairing (A=T & C=G)
Strands bonded by weak hydrogen
bonds
Definitions
Genome

the total number of genes

contained in one cell
Genotype

complete genetic constitution

of an individual
Phenotype
the physical appearance of
an individual that is
produced by the interaction
of his genes & environment
Trait

variation of an expressed
characteristic
Karyotype
systematic arrangement of
images of chromosomes
into homologous pairs
Autosomal chromosome
in humans, the 22 pairs of
chromosomes that are not
the sex chromosomes (XX or
XY)
Sex chromosomes
pair of chromosomes
involved in sex
determination; in males, the
XY chromosomes; in females,
the XX chromosomes
Allele
alternative forms of a
gene that occupy a
specific locus on a specific
gene
Homozygous

having two identical alleles

for a given gene
Heterozygous

having two different alleles

for a given gene
Carrier
heterozygous individual who
does not display symptoms of a
recessive genetic disorder but
can transmit the disorder to his
or her offspring
Dominant
describes a trait that is
expressed both in
homozygous &
heterozygous form
Dominant lethal
inheritance pattern in which
individuals with one or two
copies of a lethal allele do
not survive in utero or have a
shortened life span
Recessive
describes a trait that is only
expressed in homozygous
form and is masked in
heterozygous form
Recessive lethal
inheritance pattern in which
individuals with two copies
of a lethal allele do not
survive in utero or have a
shortened life span
Incomplete dominance
pattern of inheritance in which a
heterozygous genotype expresses
a phenotype intermediate
between dominant and recessive
phenotypes
X-linked
pattern of inheritance in
which an allele is carried
on the X chromosome of
rd
the 23 pair
X-linked dominant
pattern of dominant
inheritance that corresponds
to a gene on the
X chromosome of the 23 rd
pair
X-linked recessive
pattern of recessive
inheritance that corresponds
to a gene on the
X chromosome of the 23 rd
pair
Transcription

copying of DNA
sequences into mRNA
Translation

copying of mRNA
sequences into protein
Gene
Gene
the unit of heredity that
occupies a specific locus on the
chromosome. It is a DNA
sequence that directs synthesis
of a specific polypeptide chain
Genes
Structural
Regulatory
Operator
Structural Gene

directs synthesis of a
specific polypeptide chain
Regulatory Gene

repressor substance
secretion
Operator Gene

switches on structural
gene
The Genetic Code
This is the language of
mRNA
Based on the 4 bases of
mRNA
“Words” are 3 RNA
nucleotide sequences
called codons
Gene Mutation
Mutation

change in the nucleotide

sequence of DNA
A- Spontaneous Mutations
(molecular decay)
B- Induced Mutations (mutagens)
- Chemicals
- Radiation
- Viral
Types of
mutations
Types of Mutations
Gene Chromosomal
mutations mutations
result from involve changes in
changes in a the whole
single gene. chromosome.
Effects of Gene Mutations

A- Neutral Effect (Silent mutation)

B- Harmful Effect
C- Beneficial Effect
Silent mutation

Another triplet for the

same AA
Harmful Effects
1.
Errors in protein sequence 
partly or completely non-
functioning proteins.
Harmful Effects
2.
Germ cell mutations 
hereditary diseases/
teratogenecity
(heterozygous/homozygous)
Harmful Effects
3.
Somatic cell mutations 
cancers
Regulation of gene expression
Not all genes are transcribed
all the time.
Controlling mechanisms in
the cell regulate the flow of
enzymes & other proteins,
determining which genes
are turned on.
Some genes are needed
for short periods of life
cycle, others such as those
involved in energy
production may be
operating all time.
DNA Functions
DNA functions

REPLICATION
METABOLISM
Replication
From one generation to
another  inheritance.
From cell to cell 
division.
Metabolism
gene expression & protein
synthesis (transcription &
translation)
Replication
DNA replication
it is the process by which
genetic information is
transmitted from one cell to
another
DNA replication
it starts by separation of the
2 strands. Each acts as a
template for a new strand
(semi-conservative)
DNA replication
DNA polymerase proceeds in
only one direction along the
helix (from the 5’ to 3’ end of
DNA) but starts in many sites.
Transcription
Transcription
the process whereby genetic
information is transmitted from
DNA to mRNA by RNA
polymerase into
complementary single-stranded
copies of RNA
mRNA
are the processed
transcripts of genes that
code for polypeptides
Codon
a triplet of adjacent
nucleotides in the mRNA
chain that codes for a
specific AA in the synthesis of
a protein molecule
Exons
nucleotide sequences that is
found in a gene, code
information for protein
synthesis, & is transcribed to
mRNA
Introns
segments of a gene situated
between exons that is removed
before translation of mRNA &
does not function in coding for
protein synthesis
Promoter
the place where RNA
polymerase 1st attaches. They
vary from gene to another but
contain sequences in common
of 7 base sequence of all T’s &
A’s
Termination
certain sequence that
terminates gene
transcription (downstream
beyond the 5’ end)
Sense strand
the strand that is actually
transcribed is the one with
specific promoter sequence.
The other non-sense strand
is not used in transcription
Processing
CAPPING: addition of a chemical cap to
the 5’ end (attach RNA to the
ribosome).
SPLICING: excision of introns.
POLYTAIL: addition of poly A tail
(AAAA) to the 3’ end (it aids in
transporting RNA molecule into the
cytoplasm).
Translation
Translation
it is the process by which
mRNA is translated into
protein synthesis. It
involves tRNA & rRNA
tRNA
one end binds a particular
AA (all are 20), the other end
has a 3-base sequence, the
anticodon, that pairs with a
particular codon on mRNA
rRNA
structural elements of
ribosomes. They are the
benches on which protein
synthesis occurs
Steps of translation
mRNA moves along ribosomes
tRNA adapts
Starting codon= ATG
Stop codon= UGA, UAG, UAA
Summary
DNA  transcription at
chromosomes  mRNA 
movement across NM
rRNA translation at
ribosomes  protein
Patterns Of Inheritance
Patterns of inheritance
Autosomal Recessive Inheritance
Autosomal Dominant Inheritance
X-Linked Recessive Inheritance
X-Linked Dominant Inheritance
Autosomal Recessive Inheritance
Autosomal recessive
pattern of recessive
inheritance that corresponds
to a gene on one of the 22
autosomal chromosomes
Autosomal Dominant Inheritance
Autosomal dominant
pattern of dominant
inheritance that corresponds
to a gene on one of the 22
autosomal chromosomes
X-Linked Recessive Inheritance
X-Linked Dominant Inheritance
References
cnx.org
Basics Of Human Genetics Prof. Dr. Randa
Youssef Kasr El Aini (Presentation)
All about genes. Maha Adel Shaheen, MD
Professor of Dermatology & Venereology Ain
Shams University (Presentation)
google images
Thank

YOU