Zbornik - Društvo genetičara Srbije

More documents

Recommendations

Info

208 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE V-Pos-5 Subotica, 30. novembar - 4. decembar 2004. GENOTIP-FENOTIP KORELACIJE KOD PACIJENATA SA DUCHENNE-OVOM I BECKER-OVOM MIŠIÆNOM DISTROFIJOM T. Laliæ 1 , D. Radivojeviæ 1 , M. Ðurišiæ 1 , M. Guæ-Šæekiæ 1 i D. Zamuroviæ 2 1 2 Laboratorija za medicinsku genetiku, Odeljenje za neurologiju, Institut za zdravstvenu zaštitu majke i deteta <strong>Srbije</strong> «Dr Vukan Èupiæ», Beograd Klinièka ekspresija bolesti kod oko 60% pacijenata sa Duchenne-ovom i Becker-ovom mišiænom distrofijom nastaje kao posledica delecija u genu za distrofin. Kod ovakvih sluèajeva je na osnovu tzv. «frame-shift» hipoteze ustanovljeno da delecije koje dovode do narušavanja translacionog okvira èitanja onemoguæavaju produkciju stabilnog proteina i za posledicu imaju ekspresiju DMD fenotipa. Nasuprot tome, delecije koje zahvataju integralan broj kodona zadravaju odgovarajuæi okvir èitanja, nastali protein je stabilan i delimièno funkcionalan i eksprimira se klinièki blaa forma bolesti-Becker-ova mišiæna distrofija. U cilju ispitivanja validnosti ove teorije kod pacijenata Neurološke slube Pedijatrijske klinike Instituta za zdravstvenu zaštitu majke i deteta analizirano je 90 bolesnika kod kojih je detektovano 39 razlièitih delecija u DMD/BMD genu. Rezultati ovih analiza pokazali su da je kod 87,8% bolesnika korelacija klinièke ekspresije bolesti i delecija u genu za distrofin bila u skladu sa oèekivanom na osnovu «frame-shift» hipoteze. Ovakvi podaci imaju veliki prognostièki znaèaj za individualne pacijente èak i za sporadiène sluèajeve sa negativnom familijarnom anamnezom. CORRELATION OF CLINICAL AND DELETION DATA IN YUGOSLAV DUCHENNE/BECKER MUSCULAR DYSTROPHY PATIENTS About 60% of both Duchenne’s muscular dystrophy (DMD) and Becker’s muscular dystrophy (BMD) cases is due to deletions of dystrophin gene. For cases with deletion mutations the «reading frame» hypothesis predicts that deletions which result in disruption of the translation reading frame prevent production of stable protein and are associated with DMD. In contrast, intragenic deletions that involve exons encoding an integral number of triplet codons maintain proper reading frame. The resulting abnormal proteins are stable and partially functional, resulting in a milder and more variable BMD phenotype. To test the validity of this theory, we analyzed 90 patients-39 independent deletions at the DMD/BMD locus. Our results showed that in this sample the correlation between deletion and clinical severity of the disease was as predicted in 87,8% of cases. This data should be useful in establishing the prognosis in individual patients even in sporadic cases with no affected relatives.
V-Pos-6 ZBORNIK ABSTRAKATA III KONGRESA GENETIÈARA SRBIJE 209 Subotica, 30. novembar - 4. decembar 2004. UÈESTALOST ABERANTNIH KARIOTIPOVA I NJIHOV PROGNOSTIÈKI ZNAÈAJ U UZORKU OD 146. DECE SA ALL N. Lakiæ 1 , A. Krstiæ 1 , S. Æirkoviæ 1 , M. Guæ-Šæekiæ 1 , G. Bunjevaèki 2 i D. Miæiæ 2 1 2 Laboratorija za medicinsku genetiku, Odeljenje za hematoonkologiju, Instituta za zdravstvenu zaštitu majke i deteta <strong>Srbije</strong> «Dr Vukan Èupiæ», Beograd Od ukupnog broja analiziranih pacijenata, kod 79 (54%) je dijagnostikovan normalan kariotip dok je aberantni uoèen kod 67. (46%) dece; numerièki hromozomski rearanmani detektovani su kod 44 (65%) pacijenta, a prisustvo strukturnih rearanmana uoèeno je kod njih 23. (35%).U grupi pacijenata sa aberantnim kariotipom analiza je pokazala prisustvo specifiènih i nespecifiènih hromozomskih rearanmana. Od specifiènih aberacija dijagnostikovane su: hiperdiploidija kod dece sa ALL (L1 ili L2), hiperhaploidija kod 1 pacijenta sa ALL (L1), translokacija 9/22 [ t (9;22)(q34;q11) ] kod 4 (6%) pacijenta sa ALL( L1 ili L2) , translokacija 4/11 [t(4;11)(q21;q23)] kod jednog deteta sa ALL (L1) i translokacija11/14 [t(11;14)(p13;q11)] takoðe kod jednog pacijenta sa L1 akutnom limfoblastnom leukemijom. Uèestalost specifiènih hromozomskih rearanmana u obraðenoj grupi bolesnika, kao i njihov prognostièki znaèaj slau se sa podacima sliènih studija u literaturi. Citogenetska analiza æelija kosne sri pacijenata u našem uzorku, pokazala je i prisustvo sledeæih nespecifiènih rearanmana: hipodiploidije kod 6 (9%) pacijenata sa ALL (L1 ili L2) , pojedinaène sluèajeve translokacija 6/9 [t(6;9)(q23;p24)] i 13/19 [ t (13;19)(q14,p13) ], delecije hromozoma 7 [del(7)(q22)], inverzije hromozoma 1[inv (1)(p34;q21) ], duplikacije hromozoma 1 [dupl(1)(q21;q32) ], kod pacijenta sa ALL (L1), kao i delecije hromozoma 2 [del(2)(q33)] i hromozoma 8[del (8)(p11)] detektovanih kod pacijenata sa ALL (L2). FREQUENCY OF ABERRANT KARYOTYPES AND THEIR PROGNOSTIC VALUE IN CHILDREN WITH ALL Normal karyotype was found in 79 (54%) of our patients. Chromosomal abnormalities were seen in 67 (46%) children; among them 44 (65%) have numerical and 23 (35%) structural rearrangements. Structural abnormalities were presented in a form of specific and nonspecific chromosomal aberrations. Among specific chromosomal disorders cytogenetic analysis revealed: hyperdiploidy in 37 (55.7%) children with ALL L1 or L2, hyperhaploidy in one patient with ALL (L1), translocation 9/22 [ t (9;22)(q34;q11) ] in 4 (6%) patients with ALL( L1 or L2), translocation 4/11 [ t (4;11)(q21;q23) ] in one patient with ALL (L1) and translocation 11/14 [ t (11;14)(p13;q11) ] in one patient with the sime tipe of ALL. The frequency of specific chromosomal aberrations in our group of patients and their prognostic value is in agreement with the results of similar studies in the literature. Nonspecific chromosomal abnormalities detected in our group of patients were: hypodiploidy ( 6 patients (9%) with ALL (L1 or L2)); translocations: t(6;9)(q23;p24) (1 patient with ALL (L1)), t (13;19)(q14;p13) (1 case with ALL (L1)); deletations : del(7)(q22) (1 patient with ALL (L1)) , del (8)(p11) (1 case with ALL (L2)), del(2)(q33) (1 patient with ALL (L2)) and inversion of chromosome 1[ inv (1)(p34;q21) ] in one patient with ALL (L1).
Page 1 and 2:
DRUŠTVO GENETIČARA SRBIJE SERBIAN
Page 3 and 4:
III KONGRES GENETIÈARA SRBIJE Subo
Page 5 and 6:
Uvodno predavanje Opening lecture
Page 7 and 8:
I tematska oblast / I topic: Geneti
Page 9:
I-Uvo-2 ZBORNIK ABSTRAKATA III KONG
Page 12 and 13:
12 ZBORNIK ABSTRAKATA III KONGRESA
Page 14 and 15:
Page 16 and 17:
Page 18 and 19:
Page 20 and 21:
Page 22 and 23:
Page 24 and 25:
Page 26 and 27:
Page 28 and 29:
Page 30 and 31:
Page 32 and 33:
Page 34 and 35:
Page 36 and 37:
Page 38 and 39:
Page 40 and 41:
Page 43 and 44:
II tematska oblast / II topic: Stru
Page 45 and 46:
II-Uvo-2 ZBORNIK ABSTRAKATA III KON
Page 47 and 48:
Page 49 and 50:
II-Usm-2 ZBORNIK ABSTRAKATA III KON
Page 51 and 52:
Page 53 and 54:
Page 55 and 56:
Page 57 and 58:
II-Pos-2 ZBORNIK ABSTRAKATA III KON
Page 59 and 60:
Page 61 and 62:
Page 63 and 64:
III tematska oblast / III topic: Ge
Page 65:
III-Uvo-2 ZBORNIK ABSTRAKATA III KO
Page 68 and 69:
Page 70 and 71:
Page 72 and 73:
Page 74 and 75:
Page 76 and 77:
Page 78 and 79:
Page 80 and 81:
Page 82 and 83:
Page 84 and 85:
Page 86 and 87:
Page 89 and 90:
IV tematska oblast / IV topic: Ople
Page 91 and 92:
IV-Usm-2 ZBORNIK ABSTRAKATA III KON
Page 93 and 94:
Page 95 and 96:
Page 97 and 98:
Page 99 and 100:
IV-Usm-10 ZBORNIK ABSTRAKATA III KO
Page 101 and 102:
Page 103 and 104:
Page 105 and 106:
Page 107 and 108:
Page 109 and 110:
Page 111 and 112:
Page 113 and 114:
Page 115 and 116:
Page 117 and 118:
IV tematska oblast / IV topic: Ople
Page 119 and 120:
IV-Pos-2 ZBORNIK ABSTRAKATA III KON
Page 121 and 122:
Page 123 and 124:
Page 125 and 126:
Page 127 and 128:
IV-Pos-10 ZBORNIK ABSTRAKATA III KO
Page 129 and 130:
Page 131 and 132:
Page 133 and 134:
Page 135 and 136:
Page 137 and 138:
Page 139 and 140:
Page 141 and 142:
Page 143 and 144:
Page 145 and 146:
Page 147 and 148:
Page 149 and 150:
Page 151 and 152:
Page 153 and 154:
Page 155 and 156:
Page 157 and 158: IV-Pos-40 ZBORNIK ABSTRAKATA III KO
Page 179 and 180: V tematska oblast / V topic: Geneti
Page 181: V-Uvo-2 ZBORNIK ABSTRAKATA III KONG
Page 184 and 185: 184 ZBORNIK ABSTRAKATA III KONGRESA
Page 203 and 204: V tematska oblast / V topic: Geneti
Page 205 and 206: V-Pos-2 ZBORNIK ABSTRAKATA III KONG
Page 207: V-Pos-4 ZBORNIK ABSTRAKATA III KONG
Page 211 and 212: V-Pos-8 ZBORNIK ABSTRAKATA III KONG
Page 213 and 214: V-Pos-10 ZBORNIK ABSTRAKATA III KON
Page 227 and 228: ZAVRŠNO PREDAVANJE CLOSING LECTURE
Page 229 and 230: A Aksentijeviæ I. 194 Aleksiæ J.
Page 231 and 232: Kovaèev L. 73, 90, 125, 140, 147 K
Page 233 and 234: Stanojeviæ B. 223 Stanojeviæ J. 2
show all

Zbornik - Društvo genetičara Srbije

You also want an ePaper? Increase the reach of your titles

Delete template?

Save as template?