Zbornik - Društvo genetičara Srbije

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212 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE V-Pos-9 Subotica, 30. novembar - 4. decembar 2004. VARIJABILNOST FREKVENCE MIKRONUKLEUSA U LIMFOCITIMA PERIFERNE KRVI ZDRAVIH OSOBA Olivera Miloševiæ-Ðorðeviæ 1 , D. Grujièiæ 1 , S. Arsenijeviæ 2 i D. Marinkoviæ 3 1 Prirodno-matematièki fakultet Univerziteta u Kragujevcu 2 Ginekološko-Akušerska Klinika KBC, Kragujevac 3 Srpska Akademija Nauka i Umetnosti , Beograd Analizirani uzorak, koji su saèinjavale 142 fenotipski zdrave osobe, podelili smo u èetiri starosne grupe, I uzorak-novoroðenèiæi (N=25); II uzorak- osobe starosti 19 do 28 godina (N=52); III uzorak- osobe starosti 29 do 39 godina (N=30); IV uzorak-osobe starosti 40-53 godina (N=35). Ukupna proseèna frekvenca MN na 1000 analiziranih binuklearnih limfoblasta u uzorku od 142 fenotipski zdrave osobe, iznosila je 6.18±3.59, sa opsegom variranja 0-17 MN/1000 analiziranih limfocita. Najniu frekvencu MN (5.25±2.67) zapazili smo u uzorku osoba starosti 40-53 godine (IV uzorak), a najvišu u uzorku osoba starosti 29-39 godina-III uzorak (7.27±4.51). U uzorku novoroðenèadi zabeleili smo 5.53±3.02 MN/1000 analiziranih limfoblasta, a u uzorku osoba starosti 19-28 godina (II uzorak) 6.50±3.65 MN/1000. Mada postoji razlika u proseènim frekvencama MN izmeðu analiziranih uzoraka, primenom Student-ovog t-testa statistièki znaèajnu razliku konstatovali smo jedino izmeðu III i IV uzorka (osobe starosti 29-39 i 40-53 godina), sa verovatnoæom p0.05), a da je meðugrupna varijansa (S 2 MG=27.20) daleko veæa od unutargrupne varijanse (S 2 UG=12.54). Dobijeni rezultati sugerišu da je varijabilnost frekvence MN u limfocitima periferne krvi analiziranih uzoraka zdravih osoba u najveæoj meri uslovljena jednim od genetièkih faktora, starenjem. VARIABILITY OF FREQUENCY OF MICRONUCLEI IN PERIPHERAL BLOOD LYMPHOCYTES OF HEALTHY PERSONS The analyzed sample which comprised 142 phenotypically healthy persons, we separated in four groups depending on the age of tested individuals: I sample–newborns (N=25); II sample-persons from 19 to 28 years of age (N=52); III sample-persons from 29 to 39 years of age (N=30); IV sample-persons from 40 to 53 years of age (N=35). The total average MN frequency on 1000 analyzed binucleated lymphoblasts in a sample of 142 phenotypically healthy persons was 6.18±3.59, with the range of variation from 0 to 17 MN/1000 analyzed lymphocytes. The lowest MN frequency (5.25±2.67) we observed in a sample of persons aged from 40 to 53 years (IV sample), but the highest in a sample of persons aged from 29 to 39 years-III sample (7.27±4.51). In a sample of newborns we noted 5.53±3.02 MN/1000 analyzed lymphocytes, and in a sample of persons aged from 19 to 28 years (II sample) 6.50±3.65 MN/1000. Although difference in MN frequencies between tested samples exist, by using of Student,s t-test we recorded statistically significant difference only between III and IV samples (persons aged from 29 to 39, and 40 to 53 years), with probability p0.05), and that the intergroup variance (S 2 Bg=27.20) so far greater than intragroup variance(S 2 wg=12.54). The obtained results indicate that variability of MN frequency in peripheral blood lymphocytes of analyzed samples of phenotypically healthy persons in the greatest level is caused by one of genetic factors, by ageing.
V-Pos-10 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE 213 Subotica, 30. novembar - 4. decembar 2004. MTHFRE GENOTIP I NIVO HOMOCISTEINA KOD BOLESNIKA NA HEMODIJALIZI O. Mladenoviæ 1 , I. Novakoviæ 1 , S. Simiæ-Ogrizoviæ 2 , D. Mirkoviæ 3 , B. Popoviæ 4 , B. Jekiæ 1 , T. Damnjanoviæ 1 , Lj. Lukoviæ 1 , Lj. Ðukanoviæ 2 i M. Krajinoviæ 1 1 Institut za biologiju i humanu genetiku Medicinskog fakulteta, Beograd 2 Institut za nefrologiju KCS, Beograd 3 Institut za biohemiju KCS, Beograd 4 Stomatološki fakultet, Beograd Metilentetrahidrofolat reduktaza (MTHFR) je jedan od kljuènih enzima u metabolizmu homocisteina (Hci), koji uèestvuje u remetilaciji Hci u metionin. Sniena aktivnost MTHFR je povezana sa povišenim nivoom Hci u plazmi, što je od posebnog znaèaja zbog dokazanog toksiènog delovanja ove amino kiseline na vaskularni endotel. Utvrðeno je da je aktivnost MTHFR genetièki determinisana. Postojanje polimorfizma MTHFR C677T uslovljava sintezu termolabilne forme enzima sa smanjenom aktivnošæu. Uèestalost ovog polimorfizma kod bolesnika sa vaskularnim poremeæajima je predmet brojhih studija. Ova ispitivanja su od interesa i za nefrološke bolesnike, kod kojih se postavlja pitanje da li je hiperhomocisteinemija posledica iskljuèivo bubrene insuficijencije, ili na nju ima uticaja i genetièka osnova. Cilj našeg istraivanja je da se utvrdi uèestalost MTHFR C677T polimorfizma kod bolesnika na programu hroniène hemodijalize (HD), i da se izvrši korelacija dobijenih genotipova sa nivoom homocisteina u plazmi (pHci). Istraivanjem je obuhvaæena grupa od 81 bolesnika u terminalnoj bubrenoj insuficijenciji. Analiza genotipa je vršena PCR/RFLPs metodom a pHci je odreðivan metodom HPLC sa fluorescentnom detekcijom. Genotip CC je utvrðen kod 42% bolesnika, 46,9% bolesnika je imalo CT a 11,1% TT genotip. Nije utvrðena statistièki znaèajna razlika izmeðu frekvence genotipova i alela u odnosu na kontrolnu grupu zdravih osoba. Kod bolesnika je naðena povišena proseèna vrednost pHci, a distribucija srednjih vrednosti prema prema genotipovima je bila: 26,9 mmol/l za CC, 28,39 mol/l za CT i 27,2 mol/l za TT genotip. Nivoi pHci nisu bili u korelaciji sa MTHFR677 genotipom, veæ sa primenom suplementacione terapije vitaminima i folatima. MTHFR GENOTYPE AND HOMOCYSTEINE LEVEL IN HEMODIALYSIS PATIENTS Methylenetetrahydropholate reductase (MTHFR) is an important factor in homocysteine (Hcy) metabolism, playing a role in the remethylation of Hcy to methyonine. MTHFR activity has genetic determination: C677T polymorphism of MTHFR gene, causes synthesis of thermolabyle form of enzyme, with decreased enzyme activity and consecutive hyper-Hcy-emia. Number of studies analyzed C677T frequency in vascular diseases, due to established toxicity of the Hcy to vascular endothelium. These investigations are important for nephrological patients too, trying to give answers about a role of genetic factors in hyper-Hcy-emia in renal failure. The aim of our study was to establish MTHFR C677T frequency in hemodialysis (HD) patients, and to make correlation between MTHFR677 genotypes and plasma Hcy (pHcy) levels. Our group consisted of 81 patients with terminal renal failure. Genotype analysis was performed by PCR/RFLPs method, and pHcy was determined by HPLC with fluorescence detection. The frequencies of detected genotypes were: 42%, 46.9% and 11.1% for CC, CT and TT genotype, respectively. There was no significant difference of genotype and allele frequencies between HD patients and control group. Mean level of pHcy in patients was elevated with following distribution by genotypes: 26.9mol/l for CC, 28.39 mol/l for CT and 27.2mmol/l for TT genotype. Hcy levels in our group of HD patients were in correlation rather with vitamin and folate supplementation than with MTHFR genotypes.
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Zbornik - Društvo genetičara Srbije

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