GENETIKA DASAR

dr Ruswana Anwar, SpOG

Pembimbing
dr Wiryawan Permadi, SpOG(K)
Introduction, genetics in
medicine
 Genetic factors play in pathologic
processes
 Scientific advances :
- identify genetic diseases
- better genetic counseling
- prenatal diagnosis
- improve the health
Effect of genetic disease on
society
 1. Social burden
 2. Hospital admission
- 30 – 50% of pediatric
- 10% of adult
 3. Infant mortality
Thinking genetically
 1. The etiologic approach to disease
 2. The family as the unit of concern
- risk for similar disease in the relatives
- psychological and social implication
 3. Consideration of the patient as a whole
- affect all cell, varying symptoms – age
- reproductive consequences
Gen Structure
 Gene are composed of deoxyribonucleic acid
(DNA)
 Human genome : 23 chromosome set
 DNA molecule : double helix-twisted ladder
- side : deoxyribose linked by
phosphate
- rungs : pyrimidine + purine
- end of DNA strand : 5’ and 3’
Replication
separation of the two strands of the double
helix
Replication of DNA
Transcription
creating mRNA complimentary to the DNA

 mRNA is tranported from the nucleus to

the cytoplasma
 Chemical differences between RNA to
DNA
- Ribose : deoxyribose
- Uracil :thymine
GC and AU
Translation
 Occurs on the ribosomes
 Information coded by mRNA is
translated into a chain of specified
amino acid.
From gene to protein
 Transcription
- separation DNA as template
 RNA processing
- stabilize RNA with added of a cap and
string
- intron remove, exon are spliced
together
 Translation , convert mRNA to make peptide
in ribosome in 5’ to 3’ direction
Control of gene expression
Chromosome abnormalities
 Suspected in clinical situations
- infertility, recurrent spontaneous
abortion, stillborn, dysmorphic infant
- out come difficult to predict
Type of chromosome
anomalies
 1. Numerical anomalies
- aneuploidy: addition or loss of 1
or 2 chromosome
- polyploidy : addition of complete
set
 2. Structure anomalies
- balanced or unbalanced
Clinical spectrum
 Infertile couple
- 2-4% have autosomal
rearrangement sex chromosome
- result in nonproduction of sperm
or ova or implantation failure
 Spontaneous abortion and stillbirth
 Abnormal livebirths
Monosomy : one member of a
chromosome pair
Turner syndrome
 Clinical manifestation from first
trimester-second trimester-infancy-
childhood-adulthood
 Pathogenesis : nondisjunction or
chromosome lag at anaphase
Trisomy
 Presence of three copy of a chromosome
 Clinical examples
- Trisomy 21 (Down Syndrome)
- Trisomy 13, 18
- Klinefelter syndrome (47,xxy)
 Pathogenesis
- nondisjunction
- matrenal age effect
Klinefelter syndrome