Zbornik - Društvo genetičara Srbije

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214 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE V-Pos-11 Subotica, 30. novembar - 4. decembar 2004. UÈESTALOST F508del I MUTACIJA U EGZONU 11 CFTR GENA U ZDRAVOJ JUGOSLOVENSKOJ POPULACIJI M. Stankoviæ, A. Divac, A. Nikoliæ i D. Radojkoviæ Institut za molekularnu genetiku i genetièko inenjerstvo, Beograd Cistièna fibroza (CF) je jedno od najèešæih naslednih monogenskih oboljenja u populaciji belaca. Uèestalost CF varira meðu razlièitim populacijama i kreæe se od 1 na 2000-4000. Uèestalost heterozigotnih nosilaca mutiranog gena je 1 na 20-25 individua. Gen odgovoran za nastanak cistiène fibroze oznaèen je kao transmembranski regulator provodljivosti u cistiènoj fibrozi, tj. CFTR gen (Cystic Fibrosis Transmembrane Conductance Regulator). Do danas je otkriveno preko 1000 mutacija i preko 200 polimorfizama u CFTR genu. Od do sada otkrivenih mutacija samo osam je zastupljeno u populaciji belaca sa uèestalošæu veæom od 0.5%, a mnoge mutacije su opisane samo jednom. Najèešæa mutacija u CFTR genu je F508del, delecija tri bazna para u desetom egzonu, prisutna na oko 70% hromozoma koji nose mutirani gen. Raspodela mutacija u okviru CFTR gena nije ravnomerna. Pored F508del mutacije u egzonu 10, velika gustina mutacija karakteriše egzon 11. Cilj ovog istraivanja bio je odreðivanje uèestalosti mutiranog CFTR gena i odreðivanje uèestalosti nosilaca CFTR mutacije u zdravoj jugoslovenskoj populaciji. Studija je obuhvatila 69 dobrovoljnih davalaca krvi. Mutacija F508del detektovana je PSM metodom (PCR-mediated Site-directed Mutagenesis), dok su mutacije u egzonu 11 detektovane SSCP metodom (Single Strand Conformation Polymorphism). U ovom istraivanju ukupno je detektovano 3 mutirana alela na 138 analiziranih hromozoma. Uèestalost mutacija u CFTR genu u zdravoj jugoslovenskoj populaciji je 2.2%, dok je uèestalost heterozigotnih nosilaca mutiranog alela 1/23. Dobijene uèestalosti koreliraju sa do sada objavljenim podacima za evropske populacije. Na taj naèin dobijen je prvi podatak o uèestalosti nosilaca mutiranog CFTR gena kod nas.
V-Pos-12 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE 215 Subotica, 30. novembar - 4. decembar 2004. PCR DETEKCIJA GENOMA RAZLIÈITIH MIKROORGANIZAMA U SINOVIJI BOLESNIKA SA REITER-OVIM SINDROMOM TRETIRANIH AZITROMICINOM N. Streliæ 1 , Lj. Pavlica 2 i Z. Magiæ 1 1 Institut za medicinska istraivanja, Beograd 2 Klinika za reumatologiju, Vojnomedicinska akademija, Beograd Bakterijska infekcija zgloba je ozbiljan problem èiji ishod zavisi od pravilnog tretmana. Mali broj intra-artikularnih bakterija se moe detektovati ultraosetljivim molekularnim tehnikama, baziranim na lanèanoj reakciji polimeraze (PCR). Brza identifikacija bakterijske infekcije je neophodna za odgovarajuæi tretman inficiranih pacijenata. Cilj ovog istraivanja je bio detekcija bakterijske DNK u tkivu sinovije, sinovijskoj teènosti i perifernoj krvi bolesnika sa Reiter-ovim sindromom tretiranih azitromicinom. Tkivo sinovije, sinovijska teènost i mononukleari periferne krvi su korišæeni kao izvori DNK u PCR amplifikaciji bakterijskog 16 S rRNK gena. PCR prajmeri za specifiènu amplifikaciju DNK fragmenta 16S rRNK gena razlièitih bakterija (Chlamydia trachomatis, C. pneumoniae, Mycoplasma hominis, Ureaplasma urealyticum) su bili visoko specifièni. Uzorci su dobijeni od 20 bolesnika sa Reiter-ovim sindromom. DNK je izolovana fenol-hloroform ekstrakcijom i posle PCR amplifikacije bakterijska DNK je detektovana na 10% PAGE. Bakterijska DNK je detektovana u tri uzorka sinovijske teènosti (15%), 11 uzoraka tkiva sinovije (55%) i 17 uzoraka periferne krvi (80%). Nakon tretmana azitromicinom, bakterijska DNK je detektovana u tri uzorka sinovijske teènosti (15%), 7 uzoraka tkiva sinovije (35%) i 10 uzoraka periferne krvi (50%). Najbolji rezultat terapije azitromicinom je dobijen u krvi posebno za Mycoplasma hominis. PCR DETECTION OF GENOME OF DIFFERENT MICROORGANISMS IN SYNOVIA OF PATIENTS WITH REITER’S SYNDROME TREATED WITH AZITHROMYCIN Bacterial joint infection is a serious problem, the outcome of which depends on appropriate treatment. A small number of intra-articular bacteria can only be detected by using ultrasensitive molecular techniques, mainly those based on the polymerase chain reaction (PCR). The rapid identification of bacterial infection is essential for the proper treatment of infected patients. The aim of this study was to detect bacterial DNA in synovial tissue, synovial fluid and peripheral blood of patients with Reiter's syndrome treated with azithromycin. Synovial tissue, synovial fluid and peripheral blood mononuclear cells were used as the source of DNA for PCR amplification of bacterial 16 S rRNA gene. PCR primers for the specific amplification of DNA fragment of the 16 S rRNA gene of different bacteria (Chlamydia trachomatis, C. pneumoniae, Mycoplasma hominis, Ureaplasma urealyticum) were highly specific. Samples were obtained from 20 patients with Reiter’s syndrome. DNA was isolated by phenol/chloroform extraction and after PCR amplification bacterial DNA was detected by 10% PAGE. Bacterial DNA was detected in 3 samples of the synovial fluid (15%), 11 samples of the synovial tissue (55%), and 17 samples of peripheral blood (80%). After the treatment with azithromycin, bacterial DNA was detected in 3 samples of the synovial fluid (15%), 7 samples of the synovial tissue (35%), and 10 samples of peripheral blood (50%). The best result with azithromycin therapy was obtained in blood especially for Mycoplasma hominis.
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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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