MEDICINSKA MOLEKULARNA GENETIKA

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1 MEDICINSKA MOLEKULARNA GENETIKA Nataša Teran Ljubljana,

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3 ORGANIZACIJA ČLOVEŠKEGA GENOMA 3300 Mb genov (HGP ) 30% Jedrni genom Geni in zaporedja povezana z geni Človeški genom Mitohondrijski genom 70% Izvengenska DNA 16.6 kb 37 genov <10% 90% 60% 40% Kodirajoča DNA NekodirajočaDNA V eni/majhnem številu kopij Srednje/visoko ponavljajoča se zaporedja

4 Sprememba zaporedja nukleotidov v DNA POLIMORFIZEM MUTACIJA INDIREKTEN (posreden) pristop DIREKTEN (neposreden) pristop

5 Sprememba v zaporedju nukleotidov DNA MUTACIJA ALI POLIMORFIZEM REDKE + PATOGENE POGOSTE + NEPATOGENE Vzrok bolezni < 1 % > Teža, barva las fitnes predispozicija za bolezni odgovor organizma na določeno zdravilo

6 Srpastocelična anemija Kavkaška populacija = MUTACIJA (HBB gen za β-globin, točkasta mutacija: GAG v CTG = glutamin valin) Afrika = polimorfizem (rezistenca za malarijo)

7 POLIMORFIZEM 1) obstoj dveh ali več variant DNA, proteinov, kromosomov, fenotipov 2) vsaka nepatogena variabilnost

8 GENETSKI OZNAČEVALEC (MARKER) Specifičen del DNA (gen, segment DNA z nepoznano funkcijo) z znano lokacijo na kromosomu - osnova genetskega mapiranja - diagnostika (indirektna) - asociacijske študije - fingerprinting (določanje značilnega vzorca)

9 Vrste genetskih označevalcev Tip Število lokusov Značilnosti Krvne skupine 1910 ~20 HLA skupine Zelo informativni DNA RFLP 1975 (polimorfizem dolžin restrikcijskih fragmentov) DNA VNTR (Minisateliti) 1985 DNA VNTR (Mikrosateliti) 1989 DNA SNP 1998 (variacija enega nukleotida) >10 5 >10 4 >10 5 >10 6 Omejeno informativni Southern, PCR Zelo informativni Southern telomerno Zelo informativni Enakomerno razporejeni Omejeno informativni Pogosti (<1 kb)

10 RFLP polimorfizem dolžin restrikcijskih fragmentov 1 8 kb kb 2 kb 1 2 3

11 Mikrosatelitni genetski označevalci Oseba 1 Oseba 2 Alel A AT AT AT AT AT AT Alel C AT AT AT AT Alel B AT AT AT AT AT Alel D AT AT AT

12 DMD posreden pristop 5 DYS STR-44 STR-45 I:1 I:2 I:1 I:2 I:1 I:2? II:1 II:2? II:1 II:2? II:1 II:2 STR-49 STR-50 3 CA I:1 I:2 I:1 I:2 I:1 I:2? II:1 II:2? II:1 II:2? II:1 II:2

13 DMD haplotipi

14 Omejitve posrednega pristopa Biološki material več družinskih članov Heterogenost bolezni

15 GENETSKI POLIMORFIZEM KOT BIOMARKER Dejavnik tveganja Napovednik stopnje bolezenskega procesa Napovednik prognoze Pomočpri izbiri zdravljenja (farmakogenetika )

16 FARMAKOGENETIKA Genetski polimorfizem Porazdelitev Metabolizem Zdravila Kemikalije Ostali ksenobiotiki Celični in klinični odgovor

17 Sprememba zaporedja nukleotidov v DNA POLIMORFIZEM MUTACIJA INDIREKTEN (posreden) pristop DIREKTEN (neposreden) pristop

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19 KAKO VEMO, DA JE SPREMEMBA V DNA ZAPOREDJU PATOGENA? Vrsta mutacije Evolucijsko ohranjena zaporedja Segregacija v družini Pogostnost v populaciji

20 GLAVNE KATEGORIJE MUTACIJ zamenjava nukleotidov: najpogosteje enega nukleotida Drugačnosmiselna mutacija (missense) Nesmiselne mutacije (nonsense) Mutacije, ki vplivajo na izrezovanje intronov (splice site) delecije: enega ali več nukleotidov insercije: enega ali več nukleotidov, tudi duplikacije dinamične mutacije: tandemske pomnožitve trinukleotidnih zaporedij (npr. (CGG)n pri FraX) premik bralnega okvirja (frameshift): ins, del, splicing

21 NOMENKLATURA MUTACIJ Nivo DNA Zamenjava nukleotidov g./c./m.1162g>a Delecije g./c./m.f508del (ΔF508) Proteinski nivo Zamenjava aminokislin p.r117h ali Arg117His p.g542x ali Gly542Stop

22 POSLEDICA MUTACIJ Izguba funkcije Amorfni alel (ne rezultira v produktu) Hipomorfni alel (zmanjšana količina ali aktivnost produkta) Pridobitev funkcije Hipermorfni alel (povečana količina produkta) Neomorfni alel (alel z novo aktivnostjo produkta) Antimorfni alel (alel z aktivnostjo v nasprotni smeri)

23 Posledica mutacije = izguba funkcije Sindrom fragilnega X FMR1 gen Normal. ekson 1 Premutacija AUG AUG 6-50 ponovitev ponovitev Polna mutacija Ni transkripcije AUG Več kot 230 ponovitev

24 Posledica mutacije = izguba funkcije EPIGENETSKE MODIFIKACIJE DNA metilacija (CpG) Genetsko vtisnjenje (GENETIC IMPRINTING; različna metilacija, glede na izvor gena) Spremembe v strukturi kromatina Spremembe v proteinski konformaciji

25 Posledica mutacije = izguba funkcije EPIGENETSKE MODIFIKACIJE Prader Willie sindrom Duševna prizadetost Hipotonija Debelost Hipogonadizem Izguba očetovih genov Angelmanov sindrom Duševna prizadetost Govor se ne razvije Hiperaktivnost Neustrezni smeh Izguba materinih genov del (15q11)

26 Posledica mutacije = pridobitev funkcije Nova funkcija: α 1 antitripsin: trombin namesto elastaze Prekomerna ekspresija: Rakave bolezni: onkogeni CMT1 (nevropatija): tri kopije

27 POSLEDICE MUTACIJ Ali imajo lahko mutacije v istem genu za posledico: -> različne bolezni (fenotipe) -> različne načine dedovanja Ali je lahko ena bolezen posledica mutacij v različnih genih Ali lahko iz mutacije napovemo stopnjo klinične prizadetosti

28 Duchenova MD X vezano recesivno Proksimalna mišična prizadetost Kasneje shodijo Na voziček do 12 leta Smrt pred 30 letom Beckerjeva MD X vezano recesivno Proksimalna mišična prizadetost Shodijo normalno Na voziček po 20 let Smrt po 40 letih

29 DISTROFINSKO-DISTROGLIKANSKI KOMPLEKS

30 Delecijska DNA preiskava DMD/BMD Eksoni * P1 P2 P3 M P4 P5 P6 K

31 Biopsija skeletnih mišic Normal. BMD DMD Imunohistokemija Western blot BMD NDMD

32 POSLEDICE MUTACIJ Ali imajo lahko mutacije v istem genu za posledico: -> različne bolezni (fenotipe) -> različne načine dedovanja Ali je lahko ena bolezen posledica mutacij v različnih genih Ali lahko iz mutacije napovemo stopnjo klinične prizadetosti

33 HEREDITARNE MOTORIČNO SENZORIČNE NEVROPATIJE (CMT) CMT I demielinizacijska (AD) CMT II aksonska (AD) CMT III - Dejerine-Sottas CMT IV Refsumova bolezen (AR) CMT V s spastičnostjo CMT VI - z optično atrofijo/gluhostjo CMT VII X vezana (XLD)

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35 POSLEDICE MUTACIJ Ali imajo lahko mutacije v istem genu za posledico: -> različne bolezni (fenotipe) -> različne načine dedovanja Ali je lahko ena bolezen posledica mutacij v različnih genih Ali lahko iz mutacije napovemo stopnjo klinične prizadetosti

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37 POSLEDICE MUTACIJ Ali imajo lahko mutacije v istem genu za posledico: -> različne bolezni (fenotipe) -> različne načine dedovanja Ali je lahko ena bolezen posledica mutacij v različnih genih Ali lahko iz mutacije napovemo stopnjo klinične prizadetosti

38 Hemofilija B (pomanjkanje koagulacijskega faktorja IX; gen F9) Težja oblika bolezni (aktivnost k. f. IX <1%): - premik bralnega okvirja - spremenjeno izrezovanje intronov - nesmislene mutacije: CGA v TGA - drugačnosmiselne mutacije - velike delecije v genu F9 Zmerno težka (aktivnost k. f. IX 1-5%) in lažja oblika bolezni (aktivnost k. f. IX 6-30%) bolezni: - drugačnosmiselne mutacije

39 Medicinska molekularna genetika analizne diagnostične metode PCR (Polymerase Chain Reaction; verižna reakcija s polimerazo) Alelno specifičen Real-time (kvantitativni PCR v realnem času: genska ekspresija, ugotavljanje mutacij, polimorfizem posameznih nukleotidov-snp) Southern blot Analiza fragmentov DNA po restrikciji z encimom (RFLP, VNTR)

40 METODA PCR 1. denaturacija: razklenitev dvojne vijačnice 2. annealing: prileganje začetnih oligonukleotidov 3. extenzija: podaljševanje nove verige

41 REZULTATI PCR za DMD/BMD?

42 METODA Southern blot membrana vzorec DNA elektroforeza prenos na membrano cepitev DNA z encimom denaturacija DNA

43 REZULTATI Southern blot za FraX? MWII

44 Autosomal X-Linked Y-Linked Mitochondrial Total * Gene with known sequence (10672) + Gene with known sequence and phenotype # Phenotype description, molecular basis known % Mendelian ph enotype or locus, molecular basis unknown (1515) Other, mainly phenotypes with suspected mendelian basis Total (16662) Online Mendelian Inheritance in Man, OMIM (TM). McKusick-Nathans Institute for Genetic Medicine, Johns Hopkins University (Baltimore, MD) and National Center for Biotechnology Information, National Library of Medicine (Bethesda, MD), World Wide Web URL: dne, 17.marca 2006

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