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@inproceedings{705236,
author = {Filková, Hana and Slámová, Iva and Kuglík, Petr and Gaillyová, Renata and Ravčuková, Barbora},
address = {Amsterdam},
booktitle = {European Journal of Human Genetics},
keywords = {Duchenne muscular dystrophy; FISH; preimplantation genetic diagnosis},
language = {eng},
location = {Amsterdam},
isbn = {1018-4813},
pages = {175-175},
publisher = {ESHG},
title = {Preimplantation genetic diagnosis for Duchenne muscular dystrophy (DMD) by fluoresent in situ hybridization (FISH): case report},
year = {2006}
}
TY - JOUR
ID - 705236
AU - Filková, Hana - Slámová, Iva - Kuglík, Petr - Gaillyová, Renata - Ravčuková, Barbora
PY - 2006
TI - Preimplantation genetic diagnosis for Duchenne muscular dystrophy (DMD) by fluoresent in situ hybridization (FISH): case report
PB - ESHG
CY - Amsterdam
SN - 10184813
KW - Duchenne muscular dystrophy
KW - FISH
KW - preimplantation genetic diagnosis
N2 - Duchenne muscular dystrophy (DMD) is a lethal X-linked recessive disorder with an incidence of approximately 1 in 3500 males, caused by mutation in the DMD gene, located on Xp21.2. About 2/3 of DMD cases are caused by gross DMD gene deletion mutations.Mutations in the DMD gene result in a progressive muscle degeneration and early death. We reported a case of a family with a occurence of DMD. By means of PCR deletion of exon 45-50 was founded at one year son with clinical proved DMD. His healthy mother was detected as carrier for this mutation. The preimplantation genetic diagnosis (PGD) was used for detection of deletion in dystrophine gene at next pregnancy. 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. PGD can be applied for monogenic disorders or chromozomal abnormalities using diagnostic protocols based on the PCR or fluorescence in situ hybridization. Seven embryos were biopsied and four of them were analyzed by FISH method by using exon 46-47 DNA probe. Of these, two affected male embryos , one affected female embryo and one unaffected male embryo were detected, it was transferred.
ER -
FILKOVÁ, Hana, Iva SLÁMOVÁ, Petr KUGLÍK, Renata GAILLYOVÁ and Barbora RAVČUKOVÁ. Preimplantation genetic diagnosis for Duchenne muscular dystrophy (DMD) by fluoresent in situ hybridization (FISH): case report. In \textit{European Journal of Human Genetics}. Amsterdam: ESHG, 2006, p.~175. ISBN~1018-4813.
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