Preimplantační genetická diagnostika Duchennovy muskulární dystrofie - kazuistika

Kód výsledku v IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F06%3A00017854" target="_blank" >RIV/00216224:14310/06:00017854 - isvavai.cz</a>

Výsledek na webu

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DOI - Digital Object Identifier

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Jazyk výsledku

angličtina

Název v původním jazyce

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

Popis výsledku v původním jazyce

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 em

Název v anglickém jazyce

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

Popis výsledku anglicky

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 em

Druh

D - Stať ve sborníku

CEP obor

EB - Genetika a molekulární biologie

OECD FORD obor

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Projekt

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Návaznosti

Z - Vyzkumny zamer (s odkazem do CEZ)

Rok uplatnění

2006

Kód důvěrnosti údajů

S - Úplné a pravdivé údaje o projektu nepodléhají ochraně podle zvláštních právních předpisů

Název statě ve sborníku

European Journal of Human Genetics

ISBN

1018-4813

ISSN

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e-ISSN

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Počet stran výsledku

1

Strana od-do

175

Název nakladatele

ESHG

Místo vydání

Amsterdam

Místo konání akce

Amsterdam

Datum konání akce

1. 1. 2006

Typ akce podle státní příslušnosti

EUR - Evropská akce

Kód UT WoS článku

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