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001-es BibID:	BIBFORM065366
Első szerző:	Tóth Tamás (gyermekgyógyász)
Cím:	Prenatal detection of trisomy 13 from amniotic fluid by quantitative fluorescent polymerase chain reaction / Tóth T., Findlay I., Papp C., Tóth-Pál E., Marton T., Nagy B., Quirke P., Papp Z.
Dátum:	1998
ISSN:	0197-3851
Megjegyzések:	Prenatal diagnosis of fetal trisomies is usually performed by cytogenetic analysis from amniotic fluid. However, this requires lengthy laboratory procedures, high costs and is unsuitable for large-scale screening of pregnant women. An alternative method, which is rapid, inexpensive and suitable for diagnosing trisomies, even from single fetal cells, is the fluorescent polymerase chain reaction (PCR) using polymorphic small tandem repeats (STRs). In this paper, we present the method of rapid prenatal detection of trisomy 13 from amniotic fluid using fluorescent PCR and two highly polymorphic STRs (D13S258 and D13S631). The results obtained by quantitative fluorescent PCR amplification of fetal DNA were concordant with amniocyte karyotyping results in all cases. Two cases of trisomy 13 were detected from 212 amniotic fluids and the results obtained from D13S631 and D13S258 amplification are presented. In the first trisomy 13 case, a triallelic pattern was detected by both markers, and in the second case, D13 markers showed a characteristic 2:1 dosage allele ratio, both of which demonstrate trisomy 13 status. All other heterozygous disomic samples showed an allele intensity ratio of 1:1.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban trisomy 13 amniotic fluid quantitative fluorescent PCR
Megjelenés:	Prenatal Diagnosis. - 18 (1998), p. 669-674. -
További szerzők:	Findlay, Ian Papp Csaba (szülész-nőgyógyász) Tóth-Pál Ernő (nőgyógyász) Marton Tamás Nagy Bálint (1956-) (molekuláris genetikus) Quirke, Philip Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
Internet cím:	Szerző által megadott URL Intézményi repozitóriumban (DEA) tárolt változat
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001-es BibID:	BIBFORM065365
Első szerző:	Tóth Tamás (gyermekgyógyász)
Cím:	Prenatal detection of trisomy 21 and 18 from amniotic fluid by quantitative fluorescent polymerase chain reaction. / Tamas Toth, Ian Findlay, Csaba Papp, Ernő Toth-Pal, Tamas Marton, Balint Nagy, Philip Quirke, Zoltan Papp
Dátum:	1998
ISSN:	0022-2593
Megjegyzések:	Prenatal diagnosis of fetal trisomies is usually performed by cytogenetic analysis on amniotic fluid. This requires lengthy laboratory procedures and high costs, and is unsuitable for large scale screening of pregnant women. An alternative method, which is both rapid and inexpensive and suitable for diagnosing trisomies even from single fetal cells, is the fluorescent polymerase chain reaction using polymorphic small tandem repeats (STRs). In this paper we present the preliminary results of a larger study comparing parallel prenatal diagnoses of trisomies 21 and 18 using cytogenetics with quantitative fluorescent polymerase chain reaction using STR markers. The results obtained by the two techniques were concordant in all cases. This is the first study reporting significant numbers of prenatal diagnoses using the quantitative fluorescent polymerase chain reaction. We believe that further studies on greater numbers of samples will determine the absolute reliability of this technique. These results also provide a model for diagnosis of trisomy from single fetal cells isolated from maternal blood.
Tárgyszavak:	Orvostudományok Klinikai orvostudományok idegen nyelvű folyóiratközlemény külföldi lapban trisomy 18 trisomy 21 quantitative fluorescent PCR
Megjelenés:	Journal Of Medical Genetics. - 35 (1998), p. 126-129. -
További szerzők:	Findlay, Ian Papp Csaba (szülész-nőgyógyász) Tóth-Pál Ernő (nőgyógyász) Marton Tamás Nagy Bálint (1956-) (molekuláris genetikus) Quirke, Philip Papp Zoltán (1942-) (szülész-nőgyógyász, genetikus)
Internet cím:	Szerző által megadott URL Intézményi repozitóriumban (DEA) tárolt változat
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