genetika kbk 07 (1)
DESCRIPTION
belajar tentang genetika manusiaTRANSCRIPT
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Genetika KBKGenetika KBK 1120072007
G E N E T I K AG E N E T I K A
SYLVIA SOENGSYLVIA SOENG
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20072007 Genetika KBKGenetika KBK 22
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20072007 Genetika KBKGenetika KBK 33
PEMBUATAN KARYOTIPPEMBUATAN KARYOTIP
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20072007 Genetika KBKGenetika KBK 44
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20072007 Genetika KBKGenetika KBK 55
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20072007 Genetika KBKGenetika KBK 66
Normal male and female karyotypes
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20072007 Genetika KBKGenetika KBK 77
47, XX, +21
45, X0
46, XY, 15q-
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20072007 Genetika KBKGenetika KBK 88
FISFISHH
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20072007 Genetika KBKGenetika KBK 99
MUTASIMUTASI
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20072007 Genetika KBKGenetika KBK 1010
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20072007 Genetika KBKGenetika KBK 1111
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20072007 Genetika KBKGenetika KBK 1212
PEWARISAN SIFATPEWARISAN SIFAT
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20072007 Genetika KBKGenetika KBK 1313
Pewarisan gen tunggalPewarisan gen tunggalDominanDominan ResesifResesifWidow’s peakWidow’s peak continuous continuous hairlinehairlineFrecklesFreckles muka bersihmuka bersihJari tangan pendek Jari tangan pendek panjangpanjangBerlesung pipiBerlesung pipi tidak tidak berlesung pipiberlesung pipi
GEN KO - DOMINANGEN KO - DOMINAN
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20072007 Genetika KBKGenetika KBK 1414
Alel gandaAlel ganda
• Sistem ABOSistem ABO : : IIAA, I, IBB, i, i
A : IA : IAAIIAA, I, IAAii
B : IB : IBBIIBB,I,IBBii
AB : IAB : IAAIIBB
O : iiO : ii
• Sistem RhesusSistem Rhesus
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20072007 Genetika KBKGenetika KBK 1515
Pewarisan gen gandaPewarisan gen ganda
= = poligen / polimeri / gen poligen / polimeri / gen kumulatifkumulatif
Warna kulitWarna kulit
Warna rambutWarna rambut
Warna mata Warna mata
Tinggi badanTinggi badan
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20072007 Genetika KBKGenetika KBK 1616
PENYAKIT GENETIKPENYAKIT GENETIK
ppada ada
MANUSIAMANUSIA
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20072007 Genetika KBKGenetika KBK 1717
PENENTUAN PEWARISAN GEN TUNGGAL PENENTUAN PEWARISAN GEN TUNGGAL dengan SILSILAHdengan SILSILAH
DOMINAN RESESIF
YAYA TIDAKTIDAK
Apakah dari ayah diwariskan ke anak laki-laki?
Apakah salah satu orangtua menderita kelainan yang sama?
YAYA TIDAK YA TIDAK
DOMINANOTOSOMAL
DOMINANX-LINKED
RESESIFOTOSOMAL
RESESIFX-LINKED
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20072007 Genetika KBKGenetika KBK 1818
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20072007 Genetika KBKGenetika KBK 1919
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20072007 Genetika KBKGenetika KBK 2020
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20072007 Genetika KBKGenetika KBK 2121
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20072007 Genetika KBKGenetika KBK 2222
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20072007 Genetika KBKGenetika KBK 2323
DOMINAN OTOSOMALDOMINAN OTOSOMAL
Pada tiap generasiPada tiap generasi
Salah satu orang tua Salah satu orang tua menderitamenderita
Homozigot tak mencapai usiaHomozigot tak mencapai usia
reproduksi reproduksi
Gejala timbul pada berbagai Gejala timbul pada berbagai usiausia
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20072007 Genetika KBKGenetika KBK 2424
DOMINAN OTOSOMALDOMINAN OTOSOMALAchondroplasia Achondroplasia BrachydactylyBrachydactylyPolydactylyPolydactylyJuvenile glaucomaJuvenile glaucomaHuntington’s choreaHuntington’s choreaHiperkolesterolemia familialHiperkolesterolemia familialSyndrom MarfanSyndrom MarfanNeurofibromatosis von Neurofibromatosis von RecklinghausenRecklinghausenMyopiaMyopiaNyctalopia / hemeralopiaNyctalopia / hemeralopia
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20072007 Genetika KBKGenetika KBK 2525
DOMINAN OTOSOMALDOMINAN OTOSOMALRambut pendek & keriting seperti Rambut pendek & keriting seperti wolwolPtosis Ptosis RetinoblastomaRetinoblastomaEhlers-Danlos syndromeEhlers-Danlos syndromeOsteogenesis imperfectaOsteogenesis imperfectaNail-patella syndromeNail-patella syndromePoliposis colonPoliposis colonPolycystic kidneyPolycystic kidney
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20072007 Genetika KBKGenetika KBK 2626
Variasi dari dominan otosomalVariasi dari dominan otosomal
Mutasi baruMutasi baru
Onset pada masa dewasaOnset pada masa dewasa
Bukan ayah biologisBukan ayah biologis
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20072007 Genetika KBKGenetika KBK 2727
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20072007 Genetika KBKGenetika KBK 2828
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20072007 Genetika KBKGenetika KBK 2929
Variasi ekspresi kelainanVariasi ekspresi kelainan
• menmenyerangyerang beberapa sistem beberapa sistem
• Manifestasi gejManifestasi gejaala bervariasi pada la bervariasi pada tiaptiap
individuindividu
Sindrom MarfanSindrom Marfan
Neurofibromatosis von Neurofibromatosis von RecklinghausenRecklinghausen
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20072007 Genetika KBKGenetika KBK 3030
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20072007 Genetika KBKGenetika KBK 3131
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20072007 Genetika KBKGenetika KBK 3232
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20072007 Genetika KBKGenetika KBK 3333
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20072007 Genetika KBKGenetika KBK 3434
RESESIF OTOSOMALRESESIF OTOSOMAL Fenotip kedua orang tua normalFenotip kedua orang tua normal Genotip kedua orang tua hetero Genotip kedua orang tua hetero – –
zigot zigot carrier / traitcarrier / trait Manifestasi kelainan hanya padaManifestasi kelainan hanya pada
individu homozigotindividu homozigot Perkawinan kosanguinitas Perkawinan kosanguinitas
memperbesar rmemperbesar riisiko pewarisansiko pewarisan
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20072007 Genetika KBKGenetika KBK 3535
RESESIF OTOSOMALRESESIF OTOSOMAL Albino Phenylketonuria Cystic fibrosis / fibrokistik Alkaptonuria Penyakit Tay sachs Lactose, fructose intolerance Galactosemia Xeroderma pigmentosa Atrichia Hypotrichosis
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20072007 Genetika KBKGenetika KBK 3636
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20072007 Genetika KBKGenetika KBK 3737
RESESIF OTOSOMALRESESIF OTOSOMAL
Variasi Variasi individu heterozigot individu heterozigot mempunyai fenotip tersendirimempunyai fenotip tersendiri
Sickle cell anemiaSickle cell anemia
ThalasemiaThalasemia
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20072007 Genetika KBKGenetika KBK 3838
TERPAUT SEKSTERPAUT SEKS
TERPAUT XTERPAUT XDOMINAN : 1 ORANG TUA (+)DOMINAN : 1 ORANG TUA (+)
AYAH AYAH HANYA ANAK HANYA ANAK
IBU IBU ANAK ANAK & &
RESESIF : FENOTIP 2 ORANG TUA BISA RESESIF : FENOTIP 2 ORANG TUA BISA
NORMALNORMAL
IBU CARRIER IBU CARRIER (+) (+)
IBU CARRIER, AYAH (+) IBU CARRIER, AYAH (+) (+)(+)
AYAH & IBU (+) AYAH & IBU (+) (+) (+)
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20072007 Genetika KBKGenetika KBK 3939
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20072007 Genetika KBKGenetika KBK 4040
TERPAUT X RESESIFTERPAUT X RESESIF
buta warna parsial merah - hijau
hemofilia
distrofi muskuler tipe Duchene
cleft palate
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20072007 Genetika KBKGenetika KBK 4141
TERPAUT YTERPAUT Y
ALEL MUTAN PADA KROMOSOM Y
SEMUA ANAK LAKI TIAP GENERASI
• HYPERTRICHOSISHYPERTRICHOSIS
• WEBBED TOE
• HYSTRIX GRAVIOR
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20072007 Genetika KBKGenetika KBK 4242
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20072007 Genetika KBKGenetika KBK 4343
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20072007 Genetika KBKGenetika KBK 4444
GEN LETHALGEN LETHAL
LETHAL DOMINANLETHAL DOMINAN
FENOTIP = 2 : 1FENOTIP = 2 : 1
HETEROZIGOT :HETEROZIGOT :
SUBLETHAL, CACATSUBLETHAL, CACAT
LETHAL RESESIFLETHAL RESESIF
HETEROZIGOT : NORMALHETEROZIGOT : NORMAL
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20072007 Genetika KBKGenetika KBK 4545
GEN LETHALGEN LETHAL
SUBLETHALSUBLETHAL
DOMINAN / RESESIFDOMINAN / RESESIF
PADA BALITA, REMAJA, PADA BALITA, REMAJA, DEWASA MUDA DEWASA MUDA
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20072007 Genetika KBKGenetika KBK 4646
SEX - INFLUENCEDSEX - INFLUENCEDGEN MUTAN PADA GEN MUTAN PADA OTOSOMOTOSOM
EKSPRESI BERGANTUNG PADA HORMON EKSPRESI BERGANTUNG PADA HORMON SEKS !SEKS ! KEBOTAKAN KEBOTAKAN DIPENGARUHI OLEH HORMON TESTOSTE-DIPENGARUHI OLEH HORMON TESTOSTE- RONRON
LAKI-LAKI LAKI-LAKI DOMINAN DOMINANWANITA RESESIFWANITA RESESIF
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20072007 Genetika KBKGenetika KBK 4747
GEN GANDAGEN GANDA HIPERTENSIHIPERTENSI DIABETES MELLITUSDIABETES MELLITUS ALERGI / ASMAALERGI / ASMA KELAINAN JANTUNG KELAINAN JANTUNG KONGENITALKONGENITAL CLEFT LIP / LABIOSCHISIS CLEFT LIP / LABIOSCHISIS CLEFT PALATE / PALATOSCHISISCLEFT PALATE / PALATOSCHISIS CLUB FOOTCLUB FOOT MENINGOMYELOCELEMENINGOMYELOCELE
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20072007 Genetika KBKGenetika KBK 4848
MITOCHONDRIAL MITOCHONDRIAL INHERITANCEINHERITANCEDNA mitokondriaDNA mitokondria• ds sirkuler, 16,6 kb.ds sirkuler, 16,6 kb.• Angka mutasi tinggiAngka mutasi tinggi• Intron lebih sedikitIntron lebih sedikit• Kode genetikKode genetik
universaluniversalmtDNAmtDNAUGAUGA STOP STOP Trp TrpAUAAUA Ile Ile Met MetAGAAGA Arg Arg STOP STOP
• Pewarisan maternalPewarisan maternal• HeteroplasmyHeteroplasmy
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20072007 Genetika KBKGenetika KBK 4949
PENYAKIT PENYAKIT MITOKONDRIALMITOKONDRIALLHONLHON Leber’s Hereditary Optic Leber’s Hereditary Optic NeuropathyNeuropathy
Kebutaan mendadak pada Kebutaan mendadak pada dewasa dewasa mudamuda Aritmia cordisAritmia cordis Missense mutationMissense mutation Mutasi sekunder kromosom X Mutasi sekunder kromosom X
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20072007 Genetika KBKGenetika KBK 5050
PENYAKIT PENYAKIT MITOKONDRIALMITOKONDRIAL
FAMILIAL MITOCHONDRIAL FAMILIAL MITOCHONDRIAL ENCEPHALOPATHYENCEPHALOPATHY
• Epilepsi myoclonicEpilepsi myoclonic• MyopathiMyopathi• ketulianketulian• AtaxiaAtaxia• DementiaDementia• CardiomyopathyCardiomyopathy• HypoventilasiHypoventilasi
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20072007 Genetika KBKGenetika KBK 5151
PENYAKIT MITOKONDRIALPENYAKIT MITOKONDRIAL
MERRF
Mitochondrial Encephalopathy with Ragged- Red Muscle
Fibers Myoclonus Epilelsy with Ragged-red Fibers
• Myoclonus• Ataxia• Kelemahan otot• Epilepsi
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20072007 Genetika KBKGenetika KBK 5252
PENYAKIT PENYAKIT MITOKONDRIALMITOKONDRIAL
MELAS Mitochondrial Myopathy, Encephalopathy with Lactic Acidosis and Stroke like episode
• kejang• sakit kepala migren• lactic acidosis• vomitus• hemiparese• hemianopsia• kebutaan
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20072007 Genetika KBKGenetika KBK 5353
PENYAKIT PENYAKIT MITOKONDRIALMITOKONDRIALKSS / Kearns-Sayre Syndrome
• myopathi
• kelainan neuromuskuler
• kelemahan otot ekstraokuler / opthalmoplegi
• visus
• degenerasi retina
• ataxia
• ketulian
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20072007 Genetika KBKGenetika KBK 5454
KELAINAN SITOGENETIKKELAINAN SITOGENETIK ABERASI ABERASI
KROMOSOMKROMOSOM MUTASI GENOM MUTASI GENOM
ANEUPLOIDIANEUPLOIDI
MUTASI KROMOSOMKELAINAN STRUKTUR
Aneuploidi Otosom
Aneuploidi Gonosom
Translokasi
Delesi
Inversi
Duplikasi
Ring chromosom
Isokromosom
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20072007 Genetika KBKGenetika KBK 5555
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20072007 Genetika KBKGenetika KBK 5656
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20072007 Genetika KBKGenetika KBK 5757
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20072007 Genetika KBKGenetika KBK 5858
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20072007 Genetika KBKGenetika KBK 5959
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20072007 Genetika KBKGenetika KBK 6060
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20072007 Genetika KBKGenetika KBK 6161
SEBAB ANEUPLOIDISEBAB ANEUPLOIDI
• NON – DISJUNGSI
• ANAPHASE LAG SALAH SATU
KROMOSOM HOMOLOG TERTINGGAL/ MENGHILANG DARI INTI SEL
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20072007 Genetika KBKGenetika KBK 6262
Non - disjungsiNon - disjungsi
Kegagalan berpisah dari Kegagalan berpisah dari kromatid pada anafasekromatid pada anafase
Non disjungsiprimer
Non disjungsisekunder
Meiosis I Meiosis II
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20072007 Genetika KBKGenetika KBK 6363
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20072007 Genetika KBKGenetika KBK 6464
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20072007 Genetika KBKGenetika KBK 6565
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20072007 Genetika KBKGenetika KBK 6666
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20072007 Genetika KBKGenetika KBK 6767
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20072007 Genetika KBKGenetika KBK 6868
SEBABSEBAB dari ABERASI dari ABERASI KROMOSOMKROMOSOM
• Usia ibuUsia ibu
• KKecenderungan gen u/ non ecenderungan gen u/ non disjungsidisjungsi
• Penyakit autoimunPenyakit autoimun
• RadiasiRadiasi
• VirusVirus
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20072007 Genetika KBKGenetika KBK 6969
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20072007 Genetika KBKGenetika KBK 7070
ANEUPLOIDIANEUPLOIDI
Aneuploidi otosomAneuploidi otosom• Sindrom Down trisomi 21• Sindrom Edward trisomi grup E• Sindrom Patau trisomi grup D
Aneuploidi gonosomAneuploidi gonosom Sindrom Turner X0 Sundrom Klinefelter XXY Sindrom triple X XXX Sindrom XYY
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20072007 Genetika KBKGenetika KBK 7171
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20072007 Genetika KBKGenetika KBK 7272
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20072007 Genetika KBKGenetika KBK 7373
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20072007 Genetika KBKGenetika KBK 7474
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20072007 Genetika KBKGenetika KBK 7575
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20072007 Genetika KBKGenetika KBK 7676
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20072007 Genetika KBKGenetika KBK 7777
DELESIDELESI Kromosom PhiladelphiaKromosom PhiladelphiaSindrom Cri du chatSindrom Cri du chatSindrom TurnerSindrom TurnerSindro Prader – WilliSindro Prader – Willi
• Tumor WilmTumor Wilm
• RetRetiinoblastomanoblastoma
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20072007 Genetika KBKGenetika KBK 7878
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20072007 Genetika KBKGenetika KBK 7979
INTERSEKSINTERSEKS Kromosom sekKromosom sekss abnormal abnormal Kromosom seks normalKromosom seks normal
• HermaphroditHermaphrodit
• PseudohermaphroditPseudohermaphrodit Sindrom adrenogenitalSindrom adrenogenital Testicular feminizationTesticular feminization Kelebihan hormon seks pada Kelebihan hormon seks pada ibuibu IIdiopathicdiopathic