Preimplantation genetic diagnosis for Duchenne muscular
dystrophy (DMD) by fluoresent in situ hybridization (FISH):
case report

D 2006

Preimplantation genetic diagnosis for Duchenne muscular dystrophy (DMD) by fluoresent in situ hybridization (FISH): case report

FILKOVÁ, Hana, Iva SLÁMOVÁ, Petr KUGLÍK, Renata GAILLYOVÁ, Barbora RAVČUKOVÁ et. al.

Základní údaje

Originální název

Preimplantation genetic diagnosis for Duchenne muscular dystrophy (DMD) by fluoresent in situ hybridization (FISH): case report

Název česky

Preimplantační genetická diagnostika Duchennovy muskulární dystrofie - kazuistika

Autoři

FILKOVÁ, Hana (203 Česká republika), Iva SLÁMOVÁ (203 Česká republika), Petr KUGLÍK (203 Česká republika, garant), Renata GAILLYOVÁ (203 Česká republika) a Barbora RAVČUKOVÁ (203 Česká republika)

Vydání

Amsterdam, European Journal of Human Genetics, s. 175-175, 2006

Nakladatel

ESHG

Další údaje

Jazyk

angličtina

Typ výsledku

Stať ve sborníku

Obor

Genetika a molekulární biologie

Stát vydavatele

Velká Británie a Severní Irsko

Utajení

není předmětem státního či obchodního tajemství

Kód RIV

RIV/00216224:14310/06:00017854

Organizační jednotka

Přírodovědecká fakulta

ISBN

1018-4813

Klíčová slova anglicky

Duchenne muscular dystrophy; FISH; preimplantation genetic diagnosis

Štítky

Duchenne muscular dystrophy, FISH, preimplantation genetic diagnosis

Změněno: 15. 1. 2007 11:30, doc. RNDr. Petr Kuglík, CSc.

Anotace

ORIG CZ

V originále

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.

Česky

Práce popisuje kazuistiku pacientky s delecí exonu 45-50, u níž byla provedena preimplantační genetická diagnostika Duchennovy muskulární dystrofie pomocí techniky FISH.

Návaznosti

MSM0021622415, záměr

Název: Molekulární podstata buněčných a tkáňových regulací

Investor: Ministerstvo školství, mládeže a tělovýchovy ČR, Molekulární podstata buněčných a tkáňových regulací

Citovat

FILKOVÁ, Hana, Iva SLÁMOVÁ, Petr KUGLÍK, Renata GAILLYOVÁ a Barbora RAVČUKOVÁ. Preimplantation genetic diagnosis for Duchenne muscular dystrophy (DMD) by fluoresent in situ hybridization (FISH): case report. In European Journal of Human Genetics. Amsterdam: ESHG, 2006, s. 175. ISBN 1018-4813.

@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 a 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, s.~175. ISBN~1018-4813.

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