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@inproceedings{618685,
author = {Valášková, Iveta and Kadlecová, Jitka and Kuglík, Petr and Slámová, Iva and Gaillyová, Renata},
address = {Praha},
booktitle = {European Journal of Human Genetics},
keywords = {PGD; chromosomal aberrations; FISH; PCR; cystic fibrosis},
language = {eng},
location = {Praha},
isbn = {1018-4813},
pages = {268-268},
publisher = {Nature Publishing Group},
title = {Our first experience in preimplantation genetic diagnosis.},
year = {2005}
}
TY - JOUR
ID - 618685
AU - Valášková, Iveta - Kadlecová, Jitka - Kuglík, Petr - Slámová, Iva - Gaillyová, Renata
PY - 2005
TI - Our first experience in preimplantation genetic diagnosis.
PB - Nature Publishing Group
CY - Praha
SN - 10184813
KW - PGD
KW - chromosomal aberrations
KW - FISH
KW - PCR
KW - cystic fibrosis
N2 - 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 genotyping for single-gene disorders. Genetic analyses are performed on biopsied blastomeres . PGD of chromosomal abnormalities is applied in patients with repeated IVF failures or spontaneous abortions. This application is essentially a screening procedure to detect aneuploidies/polyploidies or translocations most commonly observed postnatally or in spontaneus abortions. We optimise the first PCR based PGD protocol for genotyping of Cystic Fibrosis Transmembrane Regulator (CFTR) gene with focusing on several inherent difficulties associated with single cell DNA amplifications including potential sample contamination, total PCR failure and allelic drop out. These difficulties should be minimised for any PGD PCR protocol before clinical application.
ER -
VALÁŠKOVÁ, Iveta, Jitka KADLECOVÁ, Petr KUGLÍK, Iva SLÁMOVÁ and Renata GAILLYOVÁ. Our first experience in preimplantation genetic diagnosis. In \textit{European Journal of Human Genetics}. Praha: Nature Publishing Group, 2005, p.~268. ISBN~1018-4813.
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