Zbornik - Društvo genetičara Srbije

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218 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE V-Pos-15 Subotica, 30. novembar - 4. decembar 2004. MUTACIJE C- MYC I C-ERB2 GENA KOD PLANOCELULARNOG KARCINOMA USNE DUPLJE B. Popoviæ 1 , J. Milašin 1 , B. Jekiæ 2 , I. Novakoviæ 2 i Lj. Lukoviæ 2 1 Stomatološki fakultet, Institut za Biologiju, Univerzitet u Beogradu, Beograd 2 Medicinski fakultet, Institut za biologiju i humanu genetiku, Univerzitet u Beogradu, Beograd Planocelularni karcinomi, kao i veæina malignih tumora, rezultat su akumulacije molekularno-genetièkih lezija, koje obuhvataju protoonkogene i tumor supresorske gene. Najèešæe aktivirani geni, odgovorni za gubitak kontrole tokom transdukcije mitogenog signala, kod velike grupe humanih tumora, ukljuèujuæi i planocelularni karcinom su protoonkogeni c-erb2 i c-myc. Produkt c-erb2 gena je transmembranski glikoproteinski receptor sa tirozin kinaznom aktivnošæu, dok je produkt c-myc protoonkogena, transkripcioni faktor ukljuèen u kontrolu æelijske proliferacije. Osnovni mehanizam njihove onkogene aktivacije je genska amplifikacija. U našoj studiji, genska amplifikacija c-myc i c-erb2 gena ispitana je metodom diferencijalnog PCR-a, a zatim je stopa amplifikacije korelisana sa klinièko–patološkim parametrima. Kod 14/70 (20%) PCR analiziranih parafinskih uzoraka, pokazana je amplifikacija c-erb2 gena, dok je kod 12/70 (17%) uzoraka utvrðena amplifikacija c-myc gena. Iako se procenat genske amplifikacije poveæava sa stadijumom bolesti, korelacija izmeðu prisustva ovih genetièkih markera i klinièkih parametara nije najjasnija.Tumori sa amplifikacijom, bez obzira na stadijum i mesto nastanka predstavljaju podgrupu sa lošijom prognozom, ali je ipak potrebno pratiti pacijente u duem vremenskom periodu, da bi mogli pouzdani zakljuèci da se donesu o korelaciji genotip-fenotip. C- MYC AND C-ERB2 MUTATIONS IN ORAL SQUAMOUS CELL CARCINOMA Oral squamous cell carcinomas (OSCC), like most other malignancies, result from an accumulation of molecular lesions in proto-oncogene and tumour suppressor genes. The most commonly activated genes responsible for the loss of control in signal transduction pathways in a wide range of human tumours including OSCC are proto-oncogenes - c-erb2 and c-myc. The product of c-erb2 is a transmembrane glycoprotein receptor with tyrosine kinase activity while the product of c-myc is a transcriptional factor which is involved in the control of cell proliferation. The principle mechanism of their oncogenic activation is gene amplification. In our study, amplification status for c-myc and c-erb2 was evaluated using double differential PCR and the level of amplification was correlated with clinicopathological markers. 14 out of 70 PCR analyzed paraffin embedded samples, showed amplification of c-erb2 (20%) and 12 (17%) of the c-myc gene. Although the percentage of gene amplification tended to increase in high grade, high stage tumours, the correlation between the presence of amplification and tumour staging was not so clear. Tumours with amplification, regardless of their stage and site represent a subgroup with worse prognosis but a longer follow-up of the patients is still necessary.
V-Pos-16 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE 219 Subotica, 30. novembar - 4. decembar 2004. FRIDRAJHOVA ATAKSIJA: ANALIZA MITOTIÈKE I MEJOTIÈKE NESTABILNOSTI FRDA LOKUSA V. Dobrièiæ, D. Saviæ, D. Keckareviæ i S. Romac Biološki fakultet, Univerzitet u Beogradu, Centar za razvoj i primenu PCR-a, Beograd Fridrajhova ataksija je autozomalno recesivno obolenje i predstavlja najèešæu formu naslednih ataksija koja se javlja sa uèestalošæu od 1u50000ukavkazoidnoj populaciji. Osnovni klinièki simptomi Fridrajhove ataksije su: ataksièan hod, ataksija ekstremiteta, arefleksija donjih ekstremiteta, odsutni mišiæni tetivni refleksi, dizartrija, oslabljen vibracioni senzibilitet, ekstenzioni plantarni odgovor, kardiomiopatija, pes cavus i skolioza. U 96% sluèajeva uzrok bolesti je homozigotna ekspanzija GAA ponovaka u prvom intronu gena za frataksin (FRDA). U 4% sluèajeva bolest je izazvana GAA ekspanzijom na jednom i taèkastom mutacijom na drugom hromozomu. Normalni aleli sadre od 5 do 33 GAA ponovaka. Aleli velièine od 34 do 65 ponovaka nisu asocirani sa bolešæu, ali imaju veæu verovatnoæu ekspanzije prilikom intergeneracijskog prenošenja u odnosu na normalne alele. Mutirani aleli sadre od 66 do 1700 ponovaka i odlikuju se somatskom nestabilnošæu. Rutinska molekularna dijagnostika Fridrajhove ataksije vrši se PCR amplifikacijom regiona FRDA gena sa GAA ponovcima i analizom amplifikovanih fragmenata na 1% agaroznom gelu. U našoj laboratoriji uspostavljena je znatno preciznija i senzitivnija metoda (eng. small pool, long range PCR based Southern blot) za odreðivanje broja GAA ponovaka u FRDA genu, u cilju izuèavanja intra- i intertkivnog somatskog mozaicizma mutiranog alela, kao i praæenja intergeneracijske nestabilnosti istih. FRIEDREICH’S ATAXIA: ANALYSIS OF MITOTIC AND MEIOTIC INSTABILITY Friedreich ataxia is an autosomal recessive disease and it is the most common of the inherited ataxias, with a frequency of 1 in 50 000 in the Caucasian population. Friedreich’s ataxia is characterized by ataxic gait, limb ataxia, lower limb areflexia, absent tendon reflexes, dysarthria, decreased vibration sense, extensor plantar response, cardiomyopathy, pes cavus and scoliosis. Friedreich’s ataxia is primarily caused by an homozygous GAA repeat-expansion mutation within intron 1 of the FRDA gene (96% of patients). Approximately 4% of patients are compound heterozygotes for this expansion and a point mutation within the same gene. The number of GAA repeats in normal alleles range from 5 to 33. Alleles with 34-65 GAA repeats are not associated with an abnormal phenotype but they have significant propensity to expand during parental transmission. Disease-causing alleles are caracterised by the huge number of GAA repeats (66-1700) and somatic instability. Routine genetic testing is performed by PCR based GAA repeat length analysis. In our laboratory we established more sensitive and precise method: small pool, long range PCR based Southern blot method. It is used for study of intra- and intertissue mosaicism and intergenerational instability of disease-causing allele.
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DRUŠTVO GENETIČARA SRBIJE SERBIAN
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Zbornik - Društvo genetičara Srbije

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