Zbornik - Društvo genetičara Srbije

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222 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE V-Pos-19 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 A u T na 193 poziciji (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.
V-Pos-20 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE 223 Subotica, 30. novembar - 4. decembar 2004. CITOGENETSKA EVOLUCIJA HRONIÈNE MIJELOIDNE LEUKEMIJE Milica Strnad 1 , Biljana Todoriæ-ivanoviæ 1 , eljka Tatomiroviæ 1 i Dragana Stamatoviæ 2 1 Zavod za patologiju i sudsku medicinu, VMA, Beograd 2 Klinika za hematologiju, VMA, Beograd Hronièna mijeloidna leukemija (CML) je maligna, mijeloproliferativna bolest sa klonalnom proliferacijom matiène æelije hematopoeze. Centralnu ulogu u patogenezi CML ima Philadelphia hromozom (Ph) koji nastaje kao rezultat reciproène translokacije t(9;22)(q34;q11). Ph hromozom je uglavnom jedinstvena hromozomska aberacija u hroniènoj fazi CML ali su dodatne hromozomske promene uoèene u 75-80% sluèajeva u fazi akceleracije i blastne transformacije bolesti. Najèešæe detektovane sekundarne hromozomske aberacije su prisustvo dodatnog Ph hromozoma, trizomija 8, trizomija 19 i i(17q). Citogenetska analiza je raðena na metafaznim hromozomima dobijanim iz aspirata kostne sri 30 bolesnika sa klinièkom dijagnozom CML (7–blastna transformacija, 23–hronièna faza). U okviru analizirane grupe evolucija kariotipa je uoèena kod 11(37%) bolesnika. Kod 8 bolesnika su uoèene mitoze sa preko 60 hromozoma, kod dva bolesnika strukturne hromozomske aberacije [46,XX,t(3;21)(q21;p11),t(9;22)(q34;q11);46,XX,t(6;9)(q15;p24),t(9;22)(q34;q11)] i kod jenog numerièka aberacija sa prisustvom dodatnog marker hromozoma (47,XX, t(9;22)(q34;q11),+mar). Evolucija kariotipa pretstavlja bitnu karakteritiku neoplastièno transformisanih CML æelija. Uoèavanje sekundarnih hromozomskih promena je vano jer uglavnom prethode hematološkoj i klinièkoj manifestaciji blastne transformacije bolesti zbog èega se smatraju negativnim prognostièkim parametrom u leèenju CML.
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DRUŠTVO GENETIČARA SRBIJE SERBIAN
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Zbornik - Društvo genetičara Srbije

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