Zbornik - Društvo genetičara Srbije

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200 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE V-Usm-17 Subotica, 30. novembar - 4. decembar 2004. ANALIZA KARIOTIPA SVINJE SA HERMAFRODITIZMOM Jelena Armuš 1 , Z. Stanimiroviæ 2 , P. Sikimiæ 2 i Jevrosima Stevanoviæ 2 1 Student IV godine Fakulteta veterinarske medicine, Univerzitet u Beogradu, Beograd 2 Katedra za biologiju, Fakultet veterinarske medicine, Beograd U radu je opisan jedan sluèaj pravog hermafroditizma kod svinje Sus scrofa domestica gajene na Fakultetu veterinarske medicine. Opservacija spoljašnje morfologije navela nas je na pretpostavku da je reè o pravom hermafroditizmu obzirom da je konstantovano prisustvo muških i enskih polnih organa (vulva sa hipertrofiranim klitorisom, testisi i penis). Patomorfološkim analizama takoðe je potvrðen dualizam muških i enskih polnih organa, pa je odluèeno da se pristupi hromozomskim analizama ove ivotinje primenom modifikovane metode Evans-a i O’Riordan-a (1975). Analizom kariotipa limfocita periferne krvi svinje utvrðen je mozaicizam polnih hromozoma tipa 2n=38,XY/XX uz otkriæe odreðenog procenta aneuploidnih æelija. S obzirom na izgled spoljašnjih genitalnih organa (prisutni su vulva sa hipertrofiranim klitorisom, testisi i penis) i unutrašnjih genitalnih organa (smanjeni testisi, prisutni ovarijumi i uterus) i hromozomske analize moemo pretpostaviti da postoje dva moguæa uzroka hermafroditizma kod ove ivotinje: mozaicizam i himerizam. KARYOTYPE ANALYSIS OF HERMAPHRODITE SWINE A case of hermaphrodite swine Sus scrofa domestica housed in the Faculty of Veterinary Medicine was described. After observation of outer morphology we supposed that it is a question of true hermaphroditism because the swine had male and female reproductive organs (vulvae with hypertrophed clitoris, testes and penis). Pathomorphologic analyses also affirmed dualism of male and female reproductive organs, so we decided to perform chromosome analyses using modificated method of Evans-a i O’Riordan-a (1975). Karyotype analyses of lympocytes from peripheral blood revelaled mosaicism of gonosomes 2n = 38,XY/XX and certain presence of aneuploid cells. Having in mind the view of outer genital organs (vulvae with hypertrophed clitoris, testes and penis) and internal genital organs (reduced testes, appearance of ovaries and uterus) we can assumed that there are two possible causes of hermaphroditism in this animal: mosaicism and chimerism.
V-Usm-18 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE 201 Subotica, 30. novembar - 4. decembar 2004. INICIJALNA DIJAGNOZA I PRAÆENJE MINIMALNE REZIDUALNE BOLESTI KOD DEÈJIH AKUTNIH LEUKEMIJA UZ POMOÆ PCR METODOLOGIJE N. Tošiæ 1 , J. Jovanoviæ 1 , B. Petruèev 1 , L. Krivokapiæ-Dokmanoviæ 2 , D. Janiæ 2 i S. Pavloviæ 1 1 Institut za molekularnu genetiku igenetièki inenjering, Beograd 2 Univerzitetska deèja klinika, Beograd U našem istraivanju koristili smo multipleks RT-PCR tehniku za detekciju èetiri najèešæe translokacije kod dece obolele od ALL; t(9; 22) BCR-ABL (p190) fuzioni transkript (prisutan u 15% sluèajeva), t(1; 19) E2A-PBX1 fuzioni transkript (4%), t(12; 21) TEL-AML1 fuzioni transkript (8%) i t(4; 11) MLL-AF4 fuzioni transkript (0%). Ukoliko nije detektovana nijedna od ovih translokacija MRB je praæena analizom klon-specifiènih regiona spajanja rearaniranih gena za IgH i T-æelijkog receptora (TCR). Za detekciju tri najèešæe genetièke abnormalnosti u AML, PML/RAR fuzioni transkript za t(15;17) (prisutna u 13% suèajeva), AML1/ETO fuzioni transkript za t(8;21) (0%) i CBFbeta/MYH11 fuzioni transkript za inv(16) (13%), koristili smo nested RT-PCR esej. AML pacijenti kod kojih nisu detektovane ove translokacije testirane su na mutacije u Flt3 genu. Mutacije u Flt3 genu su analizirane PCR-RFLP analizom za D835 taèkastu mutaciju (prisutna u 4% pacijenata) i PCR analizom za Flt3/ITD (internal tandem duplication) (8%). Metodologija bazirana na PCR analizi predstavlja osetljiv test za dijagnostikovanje akutnih leukemija i obezbeðuje dodatne markere za praæenje MRB. INITIAL DIAGNOSIS AND FOLLOW-UP OF MINIMAL RESIDUAL DISEASE IN CHILDHOOD ACUTE LEUKEMIA USING PCR-BASED METHODOLOGY In our investigation we used mutiplex RT-PCR tehnique for detection of four most common translocations in children affected with ALL; t(9; 22) BCR-ABL (p190) fusion transcript (present in 15% of cases), t(1; 19) E2A-PBX1 fusion transcript (4%), t(12; 21) TEL-AML1 fusion transcript (8%) and t(4; 11) MLL-AF4 fusion transcript (0%). If none of the most common translocations in ALL had been available for MRD detection, the analysis of clone-specific junctional regions of rearranged genes for both IgH and the T-cell receptor (TCR) was used for the follow up of MRD. For identification of 3 most commone genetic abnormalities in AML, PML/RAR fusion transcript for t(15;17) (present in 13% of patients), AML1/ETO fusion transcript for t(8;21) (0%) and CBFbeta/MYH11 fusion transcript for inv(16) (13%), we used nested RT-PCR assay. AML patients lacking the most common translocations were tested for the mutations of Flt3 gene. Mutations of Flt3 gene were analyzed by PCR-RFLP for D835 point mutation (present in 4% of patients) and by PCR method for Flt3/ITD (internal tandem duplication) (8%). By using PCR analysis we have provided a sensitive test for the diagnosis of acute leukemias and additional markers for MRD follow up.
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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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I tematska oblast / I topic: Geneti
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Zbornik - Društvo genetičara Srbije

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