Zbornik - Društvo genetičara Srbije
Zbornik - Društvo genetičara Srbije
Zbornik - Društvo genetičara Srbije
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186 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE V-Usm-3<br />
Subotica, 30. novembar - 4. decembar 2004.<br />
VARIJANTNE TRANSLOKACIJE I TIPOVI BCR/abl GENSKOG<br />
REARANMANA U HRONIÈNOJ MIJELOIDNOJ LEUKEMIJI<br />
Vesna Ðorðeviæ 1 , Jelica Jovanoviæ 1 , Biljana Todoriæ 2 , Z. Magiæ 2 ,<br />
Koviljka Krtolica 3 i Darinka Boškoviæ 1<br />
1 2<br />
Institut za hematologiju Klinièkog centra <strong>Srbije</strong>, Vojnomedicinska akademija,<br />
3<br />
Institut za nuklearne nauke «Vinèa», Beograd<br />
U radu je pretstavljeno 19 bolesnika sa dijagnozom CML kod kojih je potvrðeno<br />
prisustvo varijantne translokacije u kariotipu. Citogenetska analiza uraðena je direktnom<br />
preparacijom æelija iz kostne sri bolesnika, a analiza hromozoma vršena je modifikovanom<br />
metodom – HG tehnikom traka. Kod dva (2/19) bolesnika detektovan je Ph hromozom<br />
nastao jednostavnim, varijantnim translokacijama i to: t(10;22)(q25;q11) i<br />
t(12;22)(p11;p12). U kariotipu preostalih 17 (17/19) bolesnika otkrivene su varijantne<br />
translokacije kompleksnog tipa.<br />
Reverzna transkripcija-lanèana reakcija polimeraze (RT-PCR) korišæena je za detekciju<br />
ekspresije BCR/abl fuzionisanih gena kod osam (8/19) bolesnika. Registrovan je<br />
BCR/abl genski rearanman tipa b3a2 kod šest (6/8) bolesnika, dok je genski rearanman<br />
tipa b2a2 bio prisutan kod jednog (1/8) bolesnika. Kod jednog (1/8) bolesnika sa<br />
jednostavnom, varijantnom translokacijom, ekspresija BCR/abl gena nije detektovana.<br />
Rezultati citogenetskih i molekularnih ispitivanja CML bolesnika sa «varjantnim» Ph<br />
hromozomom prikazani u ovom radu, jasno ukazuju da varijantne translokacije<br />
hromozoma 9 i 22 predstavljaju veliki istraivaèki izazov, pogotovo ako se ima u vidu<br />
èinjenica da tipovi rearanmana BCR/abl fuzionisanog gena mogu biti razlièiti i drugaèiji<br />
od specifiènih rearanmana (b2a2 i b3a2) za CML.<br />
VARIANT TRANSLOCATIONS AND THE FORMS OF BCR/abl<br />
REARRANGEMENT IN CHRONIC MYELOID LEUKEMIA<br />
In this study, variant translocation in 19 patients with newly diagnosed CML, was presented.<br />
Cytogeneric analysis was performed on bone marrow cells after direct preparation.<br />
Chromosomal analysis was performed according to our modified method of<br />
HG-banding. Two (2/19) patients had simple variant Ph-producing translocations, and<br />
other (17/19) patients had complex variant translocations.<br />
Reverse transcription-polymerase chain reaction (RT-PCR) for detection of the<br />
expresion of BCR/abl sequence in eight CML patients was performed. BCR/abl rearrangement<br />
was found to be expressed in b3a2 form in six (6/8) patients, but in b2a2 form<br />
in one (1/8) patient. Using RT-PCR analysis in one (1/8) CML patient with simple variant<br />
translocation, we found that BCR/abl rearrangement was not expressed.<br />
Results of cytogenetic and molecular investigations in cases of «variant» Ph chromosome<br />
CML reviewed in this study cleary indicate that variant translocations of chromosomes<br />
9 and 22 are great research challenge, especially in case of rearrangement forms of<br />
BCR/abl hibrid gen that can be different from each other and different from specific<br />
rearragements (b2a2, b3a2) for CML.