JADWAL KULIAH GENETIKA MEDIK

SEMESTER GENAP TA 2012/2013 KELAS D

Dosen pengampu :
1. Prof. dr. HSM Soeatmadji
2. Drs. Sunaryo, MKes
3. Drg. Retno Dwi W., Mkes
4. Dr. Eva Diah S., Msi.Med.

1. INTRODUCTION: Peran genetika dalam dunia kedoteran, HGP, Overview kelainan genetik (kelainan gen
dan kromosom) (1)..................................................................................................................................4 Maret
2013
2. DNA, GEN DAN KROMOSOM (3).....................................................................................................11 Maret
2013
- Definisi DNA, gen dan kromosom
- Struktur DNA, gen dan kromosom
- Definisi fenotip dan genotip
- SNP dan hubungannya dengan fenotip
3. GAMETOGENESIS (2) ........................................................................................................................18 Maret
2013
- meiosis 1 dan 2
- mitosis
- Non disjunction
- mosaicism
4. MUTASI (2)..........................................................................................................................................25 Maret
2013
- kelainan jumlah kromosom (mutasi genom)
- kelainan struktur kromosom (mutasi kromosom)
- kelainan gen (mutasi gen) : mutasi titik, frameshift
5. HUKUM MENDEL DAN POLA PEWARISAN SIFAT MENURUT HUKUM MENDEL
(3)................................................................................................................1 April 2013
- Mendel dan Hk Mendel
- Mekanisme pewarisan sifat dan analisa pedigree :
Autosomal dominan (AD)
Autosomal resesif (AR)
X-linked dominan
X-linked resesif
Y-linked
6. KELAINAN YANG DIWARISKAN SECARA AD (4)............................................................................8 April
2012
- Marfan syndrome
- Achondroplasia
- Myotonic dystrophy
- Huntington disease
7. KELAINAN YANG DIWARISKAN SECARA AR (3).............................................................................15 April
2012
- Phenylketonuria (PKU)
- Sickle cell anemia
- Thalassemia
8. KELAINAN YANG DIWARISKAN SECARA X-LINKED RESESIF (3)...............................................22April
2012
- Kromosom X dan inaktivasi X
- Fragile X syndrome
- Hemophilia
- DMD
- Colour vision deficiency

1
 UJIAN TENGAH SEMESTER.........................................................................30 April 2013
9. POLA PEWARISAN KELAINAN SECARA NON MENDELIAN (4).....................................................6 Mei
2013
- Penetrance
- Anticipation
- Genomic imprinting : Angelman syndrome dan Prader Willi syndrome
- Mitochondrial : LHON disease
- Multifaktor: Autisme, Alzheimer disease, DM, Cancer
10. ANEUPLOIDY AUTOSOME DAN SEX CHROMOSOME (4)..............................................................13 Mei
2013
- Down syndrome
- Patau syndrome
- Edward syndrome
- kromosom X dan Y
- Turner syndrome
- Klinefelter syndrome
- 47,XYY
- 47,XXX
11. DOWN SYNDROME (1).........................................................................................................................20 Mei
2013
12. DETERMINASI SEKS DAN DIFERENSIASI GONAD (3).....................................................................27 Mei
2013
- Kromosom Y beserta gen-gennya
- determinasi seks dan diferensiasi gonad
- DSD (disorder of sexual development) :
- XX male
- XY female
- CAH
- CAIS
13. DIAGNOSA PRENATAL: (1).................................................................................................................. 3 Juni
2013
- non invasive (USG, maternal serum screening)
- invasive (amniocentesis, CVS, chordocentesis)
14. GENETIKA REPRODUKSI (4)................................................................................................................10 Juni
2013
- Male and female infertility
- ART (Assisted reproductive technology), kepentingan dan resikonya
- PGD, kepentingan dan resikonya
15. KONSELING GENETIK (1).....................................................................................................................17 Juni
2012
- simbol dalam pedigree
- terminology dysmorphology
- opsi-opsi reproduksi
- non directive dan non judgemental counselling genetic
16. GENETIC TESTING (4)...........................................................................................................................24 Juli
2013
- Karyotiping
- FISH
- PCR
- Predictive test
- Paternity test

UJIAN AKHIR SEMESTER..................................................................................Jadwal menyusul