Zbornik - Društvo genetičara Srbije

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192 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE V-Usm-9 Subotica, 30. novembar - 4. decembar 2004. MOLEKULARNA OSNOVA I POREKLO TALASEMIJSKIH SINDROMA U SRBIJI S. Pavloviæ 1 , J. Jovanoviæ 1 , B. Petruèev 1 , N. Tošiæ 1 , L. Krivokapiæ-Dokmanoviæ 2 , D. Janiæ 2 , M. Èvorkov-Draiæ 3 i G. Bunjevaèki 3 1 Institut za molekularnu genetiku i genetièko inenjerstvo, Beograd 2 Univerzitetska deèja klinika, Beograd 3 Institut za zdravstvenu zaštitu majke i deteta «Dr Vukan Èupiæ», Beograd Talasemijski sindromi su grupa naslednih oboljenja koja se karakteriše poremeæajem u sintezi jednog ili više polipeptidnih lanaca hemoglobina (Hb). Obuhvataju talasemije i talasemijske strukturne hemoglobinske varijante. Posledica su mutacija u globinskim genima. Ovaj rad predstavlja prvu sistematsku studiju molekularne osnove talasemijskih sindroma u Srbiji. Otkriveno je osam razlièitih b-talasemijskih mutacija (kodon 39 (CT), IVS-I-110 (GA), IVS-II-745 (CG), kodon 44 (-C), - 87 (CG), IVS-II-1 (GA), IVS-I-6 (TC), IVS I-1 (GA)) kod 70 pacijenata iz 29 porodica. Metodologija kojom su okarakterisane mutacije je obuhvatala metode molekularne biologije bazirane na lanèanoj reakciji umnoavanja DNK (PCR): reverzni dot blot (RDB), alel-specifièni PCR (ARMS), delecioni PCR (gap PCR), sekvenciranje amplifikovanog fragmenta DNK. Èetiri mutacije (Hb Lepore, kodon 39, IVS-I-110, IVS-II-745) su detektovane u 80% analiziranih pacijenata. Najèešæi uzrok talasemijskog fenotipa u našoj populaciji (30 %) je talasemijska hemoglobinska varijanta, Hb Lepore. Dijagnostikovani su i nosioci retke hemoglobinske varijante Hb Sabine, kao i pacijenti oboleli od a-talasemije. Pored toga, uraðena je detaljna analiza diverziteta haplotipova â-globinskog lokusa kod nosilaca najèešæih â-talasemijskih mutacija i zdravih betaA/betaA osoba u Srbiji. Identifikovan je novi haplotip asociran sa Hb Lepore genom u srpskoj populaciji. Ovi podaci idu u prilog hipotezi o multicentriènom poreklu ove mutacije. Mutacija je nastala de novo u hromozomskom kontekstu koji je karakteristièan za populaciju u Srbiji. Takoðe je pokazano da su dve najèešæe mediteranske mutacije, âo 39 i â + IVS-I-110, verovatno «uvezene» u populaciju <strong>Srbije</strong> iz Italije, odnosno Turske, istorijskim migracijama i seobama naroda. MOLECULAR BASIS AND ORIGIN OF THALASSEMIA SYNDROMES IN SERBIA Thalassemia syndromes are a group of hereditary disorders comprising thalassemias and thalassemic hemoglobin (Hb) variants. They are generally caused by mutations in globin genes resulting in reduced amount of globin produced. This study represents the first systematic molecular characterization of thalassemia syndromes in Serbian populations. We have identified eight b-thalassemia mutations (codon 39 (CT), IVS-I-110 (GA), IVS-II-745 (CG), codon 44 (-C), - 87 (CG), IVS-II-1 (GA), IVS-I-6 (TC), IVS I-1 (GA)) in 70 members of 29 families using polymerase chain reaction (PCR), reverse dot blot (RDB), amplification refractory mutation system (ARMS) and direct sequencing analysis. Among all detected mutations, 4 (Hb Lepore, codon 39, IVS-I-110, IVS-II-745) accounted for more than 80%. Hemoglobin (Hb) Lepore is found to be the most common cause of thalassemia phenotype (30%). Hb Sabine and a thalassemia were detected as well. We have also studied â-globin gene cluster haplotypes and their association with the most common mutations. A novel haplotype associated with Hb Lepore gene was identified. These data support the hypothesis of multicentric origin of this mutation. The mutation has arised de novo in the chromosomal background characteristic for Serbian population. Additionally, we have shown that two most common Mediterranean mutations, âo 39 and â + IVS-I-110, have probably been introduced into Serbian population from Italy and Turkey, respectively, through historically documented migrations and settlements.
V-Usm-10 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE 193 Subotica, 30. novembar - 4. decembar 2004. PREVENCIJA RAÐANJA DECE SA HROMOZOMSKIM ANOMALIJAMA NA TERITORIJI VOJVODINE J. Jovanoviæ-Privrodski, I. Kaveèan, A. Krstiæ, Lj. Gaæina, R. Madar, J. Rude, V. Manasijeviæ, M. Obrenoviæ i T. Tarasenko Institut za zdravstvenu zaøtitu dece i omladine, Novi Sad U proteklih 14 godina u Centru za medicinsku genetiku (Institut za zdravstvenu zaštitu dece i omladine) u Novom Sadu uraðeno je 15171 analiza prenatalne dijagnostike (kariotip iz amnionske teènosti, fetalne krvi i horionskih èupica). Iz amnionske teènosti bilo je 13224 analiza kariotipa, iz fetalne krvi bilo je 1947 analiza, a iz horionskih èupica bilo je 264 analiza kariotipa. Patoloških kariotipova iz amnionske teènosti bilo je 287/13224 (2.17%), iz fetalne krvi 70/1947 (3.59%), a iz horionskih èupica 34 (12.88%). Indikacija za prenatalnu dijagnostiku postavljena je u Genetskom savetovalištu Centra za medicinsku genetiku. Tokom navedenog perioda bilo je 30120 genetskih konsultacija. Indikacije su postavljene na osnovu genetièke anamneze (rodoslova), uzrasta trudnice (granica 32 godine) i supruga (granica 41 godina), biohemijskih markera (PAPPa, free beta HCG i AFP), na osnovu nalaza ekspertnog ultrazvuka, i nalaza fetalne ehokardiografije. PREVENTION OF BORNING CHILDREN WITH CHROMOSOMAL ABBERATION IN VOJVODINA In Medical Genetics Center in Novi Sad were done 15171 prenatal analyses (amniotic fluid kariotypes, fetal blood kariotypes and chorionic villi kariotypes), in last fourteen years. There were 13224 amniotic fluid analyses, 1947 fetal blood analyses and 264 chorionic villi analyses. There were found 287 (2,17%) pathologic kariotypes from amniotic fluid, 70 (3,59%) pathologic kariotypes from fetal blood and 34 (12,88%) from chorionic villi. Indications for prenatal diagnostics were made in Genetic Counselory of Medical Genetics Center in Novi Sad. Indications were based on genetic anamnesis (family tree), woman age (up 32 years), husband age (up 41 years), biochemical markers (PAPPa, free ??hCG and AFP), expert ultrasound and fetal echocardiography.
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DRUŠTVO GENETIČARA SRBIJE SERBIAN
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Zbornik - Društvo genetičara Srbije

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