Zbornik - Društvo genetičara Srbije

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220 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE V-Pos-17 Subotica, 30. novembar - 4. decembar 2004. DA LI SU CAG EKSPANZIJE UZROK NASTANKA AUTOZOMALNO DOMINANTNIH CEREBELARNIH ATAKSIJA NEPOZNATE ETIOLOGIJE? Miljana Stevanoviæ, Slobodanka Vukosaviæ i Stanka Romac Biološki fakultet Univerziteta u Beogradu, Centar za primenu i razvoj PCR-a, Beograd Autozomalno-dominantne cerebelarne ataksije (ADCA) predstavljaju heterogenu grupu poremeæaja koji su asocirani sa razlièitim neurološkim poremeæajima. Grupa ADCA za koju je genetièka osnova i ova grupa bolesti oznaèena je i terminom spinocerebelarne ataksije (SCA). Iako je u ovim bolestima oèigledna genetièka heterogenost koja se ogleda u èinjenici da su ekspanzije u razlièitim lokusima odgovorne za pojavu bolesti, klinièki simptomi su ipak veoma slièni, što moe biti posledica sliènog tipa mutacija (dinamièke mutacije) koji je u osnovi ovih poremeæaja. Ove mutacije podrazumevaju, u najveæem broju sluèajeva, ekspanzije CAG trinukleotidnih ponovaka koji se prepisuju u niz poliglutamina (poliQ). Molekularno-genetièkom analizom odrepenog broja ADCA pacijenata, nije utvrðeno prisustvo ekspandovanih alela u do sada poznatim SCA lokusima. S obzirom da je kod tih pacijenata uoèen fenomen genetièke anticipacije, pretpostavljeno je da se radi o istom tipu mutacija ali u do sada nepoznatim lokusima. Analiza velièine proteina sa poliQ nizovima iz proteinskih ekstrakata izolovanih iz periferne krvi ovih pacijenata, uz pomoæ visoko specifiènih poliQ antitela, moe se koristiti kao pristup za definisanje novih lokusa koji sadre CAG ponovke, a èija ekspanzija moe biti asocirana sa odreðenim tipovima ADCA. ARE CAG EXPANSIONS CAUSE OF AUTOSOMAL-DOMINANT CEREBELLAR ATAXIAS UNKNOWN ETIOLOGY? Autosomal-dominant cerebellar ataxias (ADCA) are heterogenous group of disorders associated with wide array of neurological abnormalities. Genetic background for most of ADCA is known and this group of diseases is called spinocerebellar ataxias (SCA). Beside the fact that expansions in different loci are responsible for different type of disease, clinical symptoms are very similar, which is probably result of similar type of mutation (dynamic mutations) that are base of these disorders. These mutations are in the most of cases, result of expansion of CAG trinucleotide repeats that translate into tract of polyglutamine (polyQ). Genetic analysis of some ADCA patients, showed no presence of expanded allels in loci known so far. Since the phenomenon of genetic anticipation is observed, it was assumed that same type of mutations, but in some other loci, is responsible for these clinical symptoms. Analysis of protein polyQ length from protein extracts isolated from peripheral blood samples from these patients, using highly-specific polyQ antibodies, can be used as an approach to define new loci with CAG triplets, which expansion could be associated with certain ADCA types.
V-Pos-18 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE 221 Subotica, 30. novembar - 4. decembar 2004. MOGUÆNOSTI MOLEKULARNE DIJAGNOSTIKE HEREDITARNE HEMOHROMATOZE TIP1 U SRBIJI I CRNOJ GORI Lj. Zamuroviæ 1 , M. Šariæ 1 , M. Keckareviæ-Markoviæ 1 , B. Èuljkoviæ 1 , J. Joviæ 2 , S. Romac 1 1 Biološki fakultet Univerziteta u Beogradu 2 Vojnomedicinska akademija, Beograd Hereditarna hemohromatoza (HH) je èest, genetski uzrokovan poremeæaj metabolizma gvoða. Nasleðuje se autozomalno recesivno. Najèešæi tip bolesti, HH tip1, je posledica mutacije u HFE genu (6p21.3). Do sada su opisane 3 missense mutacije: tranzicija G u A na poziciji 845 HFE gena (C282Y), transverzija C u G na poziciji 187 (H63D) i transverzija AuTna193poziciji (S65C). U 83% sluèajeva oboleli su homozigoti za C282Y mutaciju. Druge dve mutacije se kod pacijenata javljaju znatno reðe, uglavnom u obliku kombinovanih heterozigota sa prvom mutacijom (C282Y/H63D i C282Y/S65C). U našoj laboratoriji uspostavljena je molekularna dijagnostika HH bazirana na umnoavanju eljenog regiona HFE gena PCR metodom, restrikcionom digestijom PCR produkata i njihovom analizom na 3% agaroznom i 6% denaturišuæem poliakrilamidnom gelu. Znaèaj uvoðenja ove analize je u obezbeðivanju dopunske dijagnostièke metode koja poveæava pouzdanost dijagnostike, olakšava dijagnostiku u ranim fazama bolesti, kada se adekvatnim leèenjem mogu izbeæi ireverzibilna ošteæenja organa, kao i u otkrivanju grupa sa poveæanim rizikom od oboljevanja. Pored toga, analiza HFE gena moe dati znaèajne podatke o uèestalosti mutacija u ovom genu u populaciji SCG. POSSIBILITIES OF MOLECULAR DIAGNOSTIC OF HEREDITARY HEMOCHROMATOSIS TYPE1 IN SERBIA AND MONTENEGRO Hereditary hemochromatosis is a common, autosomal recessive genetic disorder of iron metabolism. The most common form (HH type1) is caused by the mutations in HFE gene (6p21.3). Three missense mutations have been described so far: transition G to A at position 845 of HFE gene (C282Y), transversion C to G at position 187 (H63D) and transversion at position 193 (S65C). 83% of patients are homozygous for the C282Y mutation. The other two mutations are less common and mostly in form of compound heterozygots with the first mutation in phenotypic HH patients. In our laboratory, molecular diagnostic of HH has been established, based on amplification of the selected region of HFE by PCR, restriction enzyme digest and analisys on 3% agarose and 6% denaturing polyacrilamid gel. The importance of its application is in developing an additional diagnostic method which increases the liability of diagnosis, provide diagnosis in the early phases of illness, when is possible with appropriate treatment to avoid irreversible organ damage, and is also helpful as a screening to identify high-risc group. In addition, the HFE gene analysis can provide important data about prevalence of mutations in this gene in the population of Serbia and Montenegro.
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DRUŠTVO GENETIČARA SRBIJE SERBIAN
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III KONGRES GENETIÈARA SRBIJE Subo
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Uvodno predavanje Opening lecture
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Zbornik - Društvo genetičara Srbije

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