Elsó lépéseink a praeimplantatiós genetikai diagnosztikában: genetikai vizsgálatok.

Translated title of the contribution: First attempts in preimplantation genetic diagnosis: genetic analysis

Z. Bán, P. Fancsovits, B. Nagy, H. M. Kamaszné, J. Urbancsek, Z. Papp

Research output: Contribution to journalArticle

Abstract

Preimplantation genetic diagnosis is a new approach for the prevention of genetic disorders, which provides a healthy pregnancy avoiding the need for its possible termination. The combination of in vitro fertilization techniques and single cell molecular genetic diagnosis allows only unaffected embryos to be selected for transfer to the uterus. It is an acceptable alternative of prenatal diagnosis for certain couples. Here we report our first attempts in the application of fluorescent PCR for sex determination and the detection of the delta-F508 mutation in human blastomeres. We modelled clinical PGD situations as we performed sex determination on 23 preembryos. Sex determination was successful is 20 preembryos (83%). We performed the detection of the delta-F508 mutation on 23 preembryos, which was successful in 20 preembryos (87%). Our experience suggests, that the established fluorescent PCR analysis is a reliable method for PGD, which enables us to apply it for clinical preimplantation genetic diagnosis.

Original languageHungarian
Pages (from-to)2487-2492
Number of pages6
JournalOrvosi Hetilap
Volume142
Issue number45
Publication statusPublished - Nov 11 2001

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Preimplantation Diagnosis
Prostaglandins D
Blastomeres
Polymerase Chain Reaction
Mutation
Inborn Genetic Diseases
Fertilization in Vitro
Prenatal Diagnosis
Uterus
Molecular Biology
Embryonic Structures
Pregnancy

ASJC Scopus subject areas

  • Medicine(all)

Cite this

Elsó lépéseink a praeimplantatiós genetikai diagnosztikában : genetikai vizsgálatok. / Bán, Z.; Fancsovits, P.; Nagy, B.; Kamaszné, H. M.; Urbancsek, J.; Papp, Z.

In: Orvosi Hetilap, Vol. 142, No. 45, 11.11.2001, p. 2487-2492.

Research output: Contribution to journalArticle

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