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001-es BibID:BIBFORM074841
Első szerző:Nagy Bálint (molekuláris genetikus)
Cím:Detection of [delta]F508del Using Quantitative Real-Time PCR, Comparison of the Results Obtained by Fluorescent PCR / Bálint Nagy, Gyula Richárd Nagy, Levente Lázár, Zoltán Bán, Zoltán Papp
Dátum:2007
ISSN:1015-3837
Megjegyzések:OBJECTIVE:Cystic fibrosis (CF) is the most common autosomal recessive genetic disorder in the Caucasian population. The molecular diagnosis is difficult since there are about 1,000 mutations in the CF transmembrane regulator gene. The DeltaF508del is the cause of the CF in 64% of the cases in Hungary. Our aim was to compare two polymerase chain reaction (PCR)-based method for the detection of DeltaF508del.METHODS:One hundred and sixteen DNA samples isolated from different tissues (84 blood samples, 18 chorionic villus samples and 14 amniotic fluid samples) were involved in the study. Fluorescent PCR with DNA fragment analysis and quantitative real-time PCR with melting curve analysis were performed on the DNA samples for the detection of DeltaF508del.RESULTS:Sixty-five healthy normal samples, 43 heterozygous samples, 6 DeltaF508del homozygous samples and 2 DeltaF508C homozygous samples were detected by using quantitative real-time PCR combined with melting curve analysis. The fluorescent PCR method did not detect the DeltaF508C mutation and these two samples were diagnosed as normal healthy ones.CONCLUSIONS:The quantitative real-time PCR with melting curve analysis is a reliable and fast method for the detection of DeltaF508del. The results are ready in 1 h following the DNA isolation. The applied primer-probe set with melting curve analysis gives additional information for the presence of other mutations in the DeltaF508del region.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
deltaF508
cystic fibrosis
real-time PCR
Megjelenés:Fetal Diagnosis and Therapy. - 22 : 1 (2007), p. 63-67. -
További szerzők:Nagy Gyula Richárd (szülész-nőgyógyász) Lázár Levente (szülész-nőgyógyász) Bán Zoltán (nőgyógyász) Papp Zoltán
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001-es BibID:BIBFORM074838
Első szerző:Nagy Bálint (molekuláris genetikus)
Cím:Under-Expression of CD24 in Pre-Eclamptic Placental Tissues Determined by Quantitative Real-Time RT-PCR / Bálint Nagy, Enikő Berkes, Barbara Rigó, Zoltán Bán, Zoltán Papp, Petronella Hupuczi
Dátum:2008
ISSN:1015-3837
Megjegyzések:BACKGROUND:Pre-eclampsia is a pregnancy-related disorder present in about 5-7% of all pregnancies. CD24 expression was recently reported in different diseases, while it has not yet been determined in pre-eclamptic placental tissues.METHODS:We collected placental tissues from pre-eclamptic (n = 16) and healthy pregnancies (n = 16). We used the quantitative real-time PCR method with a primer-probe system for determination of CD24 gene expression.RESULTS:We measured CD24 concentrations of 18.94 +/- 26.86 ng/microl in the pre-eclamptic and 53.85 +/- 92.05 ng/microl in the healthy placental tissues (p = 0.03).CONCLUSIONS:The quantitative real-time PCR method is suitable to determine CD24 expression in placental tissues. We suppose the low expression of CD24 may cause the enhanced immune reaction and could play a role in the abnormal development of placenta in pre-eclampsia.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
cd24
expression
preeclampsia
Megjelenés:Fetal Diagnosis And Therapy. - 23 : 4 (2008), p. 263-266. -
További szerzők:Berkes Enikő Rigó Barbara (szülész-nőgyógyász) Bán Zoltán (nőgyógyász) Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus) Hupuczi Petronella (anaesthesiológus)
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3.

001-es BibID:BIBFORM074855
Cím:Pre- and perinatal relations of hemophilia A and B / Artúr Beke, Zoltán Bán, Bálint Nagy, Ernő Tóth-Pál, Csaba Papp, Ákos Csaba, Zoltán Papp
Dátum:2003
ISSN:1015-3837
Megjegyzések:OBJECTIVE:The authors conducted a retrospective study of obstetric and genetic data, obstetric problems, and pregnancy outcome by investigating 149 pregnancies of patients who received genetic counselling because of hemophilia A or B over a 20-year period.METHODS:In cases with a heterozygous mother, fetal sex was determined. In 23 of 35 cases with male fetuses, a DNA examination was performed. In cases with hemophilic male fetuses, the couple made a decision on whether or not to continue the pregnancy after thorough counselling regarding genetic risk. Hemophilia A occurred 135 pregnancies (98 pregnancies from 55 heterozygous mothers and 37 pregnancies from 20 hemophilic fathers). Hemophilia B occurred in 14 pregnancies (9 pregnancies from 3 heterozygous mothers and 5 pregnancies from 4 hemophilic fathers).RESULTS:In pregnant women who were carriers of hemophilia A, 32 of the fetuses were male, and DNA examinations were performed in 22 cases. In 16 cases abortions were induced (in 10 cases hemophilia was confirmed by DNA examination), and in 4 of 16 deliveries affected males were born (the disease was confirmed by DNA examination during pregnancy). Of 3 confirmed male fetuses of heterozygous women with hemophilia B, 1 healthy male was born. In 2 cases abortions were induced (in 1 case on the basis of DNA diagnosis).CONCLUSIONS:In cases of heterozygous mothers (hemophilia A and B together) the rate of spontaneous abortions was 13.1%. The rates of premature deliveries (8.2%) and cesarean sections (8.2%) were no higher than national average. The rate of bleeding complications during pregnancy was 18.7%, in 2.7% of cases transfusions were necessary. In case of hemophilic fathers (in heterozygous female fetuses the hemostasis may change from the fetal side) the rate of bleeding complications during pregnancy was 18.2%. In terms of deliveries, obstetrical bleeding complications occurred in 12.2%, atonia in 2%, curettage after delivery in 4.1%, and transfusion in 10.2% of the heterozygous mothers with hemophilia A and B combined. Neonatal complications were cerebral hemorrhage in 1 case and bleeding from the umbilical stump in another case (both newborns were hemophilic males). In connection with delivery, there was no sign of hematoma development on the skull of the newborns, nor were transfusions necessary. In cases of paternal disease the rate of curettage was 6.7% and there were no neonatal or other obstetrical complications.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
haemophilia a and b
prenatal
perinatal
Megjelenés:Fetal Diagnosis and Therapy. - 18 : 1 (2003), p. 17-25. -
További szerzők:Beke Artúr (szülész-nőgyógyász) Bán Zoltán (nőgyógyász) Nagy Bálint (1956-) (molekuláris genetikus) Tóth-Pál Ernő (nőgyógyász) Papp Csaba (szülész-nőgyógyász) Csaba Ákos (nőgyógyász) Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
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4.

001-es BibID:BIBFORM074856
Cím:Recurrent trisomy 21 and uniparental disomy 21 in a family / Zoltán Bán, Bálint Nagy, Csaba Papp, Artúr Beke, Ernő Tóth-Pál, Zoltán Papp
Dátum:2003
ISSN:1015-3837
Megjegyzések:OBJECTIVE:A 32-year-old pregnant woman was referred to our genetic counselling because of recurrent trisomy 21 in the family. Analysis of amniotic fluid cell culture revealed karyotype 47,XY+21 of the fetus.METHODS:Karyotyping and molecular analysis were undertaken in the fetal and parental samples to determine the origin of the extra chromosome 21.RESULTS:Both parents had a normal blood karyotype. Microsatellite marker analysis showed maternal origin of the fetal extra chromosome 21. As the mother showed homozygosity for all investigated markers on chromosome 21, we also tested her family. We detected the same homozygosity in some family members which was consistent with isodisomy of the chromosome 21 caused by uniparental disomy (UPD).CONCLUSIONS:Here we report on a family in which multiple aneuploid conceptions occurred with trisomy 21, and molecular analysis showed that the euploidy of the investigated healthy family members is due to UPD21. This observation stresses the importance of prenatal cytogenetic and molecular analysis in case of parental UPD.
Tárgyszavak:Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban
Trisomy 21
uniparental disomy
Megjelenés:Fetal Diagnosis and Therapy. - 18 : 6 (2003), p. 454-458. -
További szerzők:Bán Zoltán (nőgyógyász) Nagy Bálint (1956-) (molekuláris genetikus) Papp Csaba (szülész-nőgyógyász) Beke Artúr (szülész-nőgyógyász) Tóth-Pál Ernő (nőgyógyász) Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
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