JADWAL KULIAH GENETIKA MEDIK

SEMESTER GENAP TA 2012/2013 KELAS D

Dosen
1.
2.
3.
4.

pengampu :
Prof. dr. HSM Soeatmadji
Drs. Sunaryo, MKes
Drg. Retno Dwi W., Mkes
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).......................................................................................................................................... 2
5 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

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
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