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Statements

Subject Item
n2:RIV%2F00216224%3A14310%2F05%3A00014636%21RIV06-MSM-14310___
rdf:type
n13:Vysledek skos:Concept
dcterms:description
Práce se zabývá prvními zkušenostmi pracoviště OLG FN Brno a Laboratoře molekulární cytogenetiky PřF MU s preimplantační genetickou diagnostikou při vyšetřování početních i strukturních chromozomových abnormalit a některých monogenních onemocnění (cystická fibróza). Prevention of the birth of affected children in couples at risk for transmitting a genetic disorder is currently based on population screening and prenatal diagnosis, followed by termination of affected pregnancies. However, this is the most sensitive problem in the control of genetic disease, which is incompatible with life or not tolerated in populations and ethnic groups. Preimplantation genetic diagnosis (PGD) is a principally new approach for the prevention of genetic disorders, which allows the selection of unaffected IVF embryos for establishing pregnancies in couples at risk. PGD may be achieved by testing female gametes (polar body analysis), blastomeres from cleavage stage embryos, or blastocysts. PGD can be applied for monogenic disorders or chromosomal abnormalities, using diagnostic protocols based on the polymerase chain reaction (PCR) or fluorescence in situ hybridisation (FISH), respectively. Our genetic centre at present concentrates on chromosomal abnormalities, while also on genot Prevention of the birth of affected children in couples at risk for transmitting a genetic disorder is currently based on population screening and prenatal diagnosis, followed by termination of affected pregnancies. However, this is the most sensitive problem in the control of genetic disease, which is incompatible with life or not tolerated in populations and ethnic groups. Preimplantation genetic diagnosis (PGD) is a principally new approach for the prevention of genetic disorders, which allows the selection of unaffected IVF embryos for establishing pregnancies in couples at risk. PGD may be achieved by testing female gametes (polar body analysis), blastomeres from cleavage stage embryos, or blastocysts. PGD can be applied for monogenic disorders or chromosomal abnormalities, using diagnostic protocols based on the polymerase chain reaction (PCR) or fluorescence in situ hybridisation (FISH), respectively. Our genetic centre at present concentrates on chromosomal abnormalities, while also on genot
dcterms:title
Naše první zkušenosti s preimplantační genetickou diagnostikou Our first experience in preimplantation genetic diagnosis. Our first experience in preimplantation genetic diagnosis.
skos:prefLabel
Naše první zkušenosti s preimplantační genetickou diagnostikou Our first experience in preimplantation genetic diagnosis. Our first experience in preimplantation genetic diagnosis.
skos:notation
RIV/00216224:14310/05:00014636!RIV06-MSM-14310___
n3:strany
268
n3:aktivita
n7:Z
n3:aktivity
Z(MSM0021622415)
n3:cisloPeriodika
Suppl. 1
n3:dodaniDat
n15:2006
n3:domaciTvurceVysledku
n8:6933300
n3:druhVysledku
n11:J
n3:duvernostUdaju
n18:S
n3:entitaPredkladatele
n14:predkladatel
n3:idSjednocenehoVysledku
535162
n3:idVysledku
RIV/00216224:14310/05:00014636
n3:jazykVysledku
n10:eng
n3:klicovaSlova
PGD; chromosomal aberrations; FISH; PCR; cystic fibrosis
n3:klicoveSlovo
n5:PGD n5:FISH n5:cystic%20fibrosis n5:PCR n5:chromosomal%20aberrations
n3:kodStatuVydavatele
CZ - Česká republika
n3:kontrolniKodProRIV
[5EC8080A94A4]
n3:nazevZdroje
European Journal of Human Genetics
n3:obor
n16:EI
n3:pocetDomacichTvurcuVysledku
1
n3:pocetTvurcuVysledku
5
n3:rokUplatneniVysledku
n15:2005
n3:svazekPeriodika
13
n3:tvurceVysledku
Valášková, Iveta Slámová, Iva Kadlecová, Jitka Gaillyová, Renata Kuglík, Petr
n3:zamer
n12:MSM0021622415
s:issn
1018-4813
s:numberOfPages
1
n17:organizacniJednotka
14310