GENETICS: DEFINE US

(Dasar-Dasar Genetika)

dr. Rahma Triliana, S.Ked. M.Kes

Pathophysiology Of Genetic Diseases Block
Medical Faculty
Malang Islamic University (UNISMA)
2007

GENE
-

Physical And Functional Unit of Heredity

Carries Information From One Generation to the Next.
Necessary for Production of Functional Protein or RNA
The Entire DNA Sequence Including Exons, Introns and Non
Coding Transcription-control Regions

GENETICS
Science that study
- Gene
- Genome/Genomic
- Genetic Control, Expression, Code, Markers, etc.
- Gene-related disease

TERMINOLOGY
GENOME

Total Genetic Information Carried by a Cell or Organism

GENOMICS

Comparative Analyses of the Complete Genomic Sequences from

Different Organisms; Used to assess evolutionary relations among
species and to predict the number & general types of proteins
produced by an organism

GENE
CONTROL

All of the Mechanism in Transcription (Most Common), Processing,

Stabilization And Translation That Involved in/ Controlled Gene
Expression

GENETIC
MARKERS

Alleles Associated With an Easily Detectable Phenotypes That Are Used

Experimentally to Identify or Select for a Linked Gene, a Chromosome,
a Cell, or an Individuals. Non Coding DNA-sequences That Are Vary
Among Individuals (DNA-polymorphysms) Can Serve As a Genetic
Markers

GENE
Overall Process Which the Information Encoded in Gene Is Converted
EXPRESSION Into an Observable Phenotype (Protein)
GENE
FAMILY

Set of Genes That Arose by Duplication of a Common Ancestral Gene

and Subsequent Divergence Due to Small Changes in the Nucleotide
Sequence

GENE STRUCTURE

Consist Of
Repeating
Nucleotide Units
Nucleic Acids
Strands
Form A Linear
Polymer With Endto-end
Directionality
DNA Carries
Information In
GENETIC Code
Genetic Code
Set Of Rules
Whereby
Nucleotide Triplets

Nucleotide
-

A Phosphate Ester
A Pentose Sugar
A Heterocyclic Base Purines
& Pyrimidines

NUCLEIC ACIDS STRANDS

RNA Single
-

Transcription

Different Types
Exhibit Various
Conformations Related
to Their Functions
mRNA, tRNA, rRNA,
snRNA
Utilize d-ribose

Double DNA

a Double Helix with

Complementary Antiparallel Strands
Watson-Crick base
pairing
Can Undergo Reversible
Strand Separation
Utilize 2-deoxy-d-ribose

DNA Are Packed In CHROMOSOME During

CELL DIVISION

4 BASIC GENETIC PROCESS

TRANSCRIPTION
a Process of Protein-coding Genes & Formation Of Functional mRNA
Carry genetic code for a certain/several protein

1.
2.
3.

A Template DNA Transcribed into a

Complementary RNA by RNA
Polymerase form Precursor mRNAs
mRNA can undergo post-transcriptional
editing to Form a Functional mRNAs &/
degraded
Alternative RNA Splicing Can Increases
the Number of Proteins Expressed from
a Single Eukaryotic Gene

TRANSLATION

Messenger RNA (mRNA) Carries Information

Folded Structure of Transfer RNA (tRNA) Promotes Decoding
Functions
Aminoacyl-tRNA Synthetases Activate Amino Acids by
Covalently Linking Them to tRNAs
Ribosomes Are Protein-Synthesizing Machines
Methionyl-tRNAiMet Recognizes the AUG Start Codon
Translation Initiation Usually Occurs Near the First AUG Closest
to the 5 End of an mRNA
During Chain Elongation Each Incoming Aminoacyl-tRNA
Moves Through Three Ribosomal Sites
Translation Is Terminated by Release Factors When a Stop Codon
Is Reached
Polysomes and Rapid Ribosome Recycling Increase the
Efficiency of Translation

TRANSLATION

PROTEIN PROCESS & PACKAGE

DNA REPLICATION

Require a Primer
to Initiate
Duplex DNA Is
Unwound,
Daughter Strands
Are Formed at
DNA Replication
Fork
Helicase,
Primase, DNA
Polymerases, and
Other Proteins
also Participate
Generally Occurs
Bidirectionally
from Each Origin

C
O
N
T
R
O
L

O
F
G
E
N
E

GENETIC DISEASE
1. Disease Caused by Gene Defect That Effect Cells &/
Organ Function
2. Gene Defect Abnormalities in Genetic Sequence
That Effect 1 / > Basic Genetic Process &/ Protein
Production
3. Can Be Traced Down in Family Pedigree &
Mendelian

Due to
-Gene Mutation
-Chromosomes Abnormality
-Defect in Mitosis &/or Meiosis Process

CLASSES of GENETIC DISEASE

Chromosomal Disorder
More / Less Set of Chromosome
a. Euploidy Whole Set Defect (Mono, Di, Poly)- Ploid
b. Uneuploidy Uneven Set Defect (Mono, Di, Nulli, Poly)-somy
E.G. Turner Syndrome (45 X), Down Syndrome (47, + 21), Trisomy 13,
(47, + 13) & Trisomy 18 (47, +18), Klinefelter Syndrome (47 XXY,
48 XXXY), Triple X (47, XXX), Presence of Philadelphia
Chromosome (Leukemia)

Structure Defect
a.
b.
c.
d.

Deletion (Cri-du-cat Syndrome (46,XX/XY, 5p-)

Duplication
Inversion
Ring Chromosome

CLASSES of GENETIC DISEASE

Monogenic Disease Single Gene Defect
Autosomal Dominant (E.G. Mutation in Ldl-r-gene
Familial Hypercholesterolemia, Huntington Disease)
Autosomal Recessive (Mutation of Glu Val at B6
Position of Globin Sickle Cell Anemia, Mutation of
Phe Hydroxylase Gene Phenylketonuria)
Sex-linked (Duchenne Muscular Dystrophy Gene
Defect in Dystrophin Synthesis, Hemophilia A Gene
Defect in Factor VIII Synthesis)
Mitochondrial DNA Defect Effect Oxidationphosphorylation-process

CLASSES of GENETIC DISEASE

Multifactorial
Disease Caused by Combination of Gene &
Environmental Factors
Gene Effect Susceptibility &/ Hastened/
Escalate Disease
E.G.
- Ischemic Heart Disease
- Essential Hypertension
- Arteriosclerosis