MLPA as useful approach for detection of subtelomeric abnormalities in patients with mental retardation and dysmorphic features

Result code in IS VaVaI

<a href="https://www.isvavai.cz/riv?ss=detail&h=RIV%2F00216224%3A14310%2F07%3A00022308" target="_blank" >RIV/00216224:14310/07:00022308 - isvavai.cz</a>

Result on the web

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DOI - Digital Object Identifier

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Result language

angličtina

Original language name

MLPA as useful approach for detection of subtelomeric abnormalities in patients with mental retardation and dysmorphic features

Original language description

Mental retardation (MR) is a heterogeneous manifestation of central nervous system dysfunction. Chromosomal rearrangements involving subtelomeric regions are believed to be responsible for 5-10 % of all mental retardation cases. Due to relative complexity and high cost of the screening methods used, most studies tested only a selected part of mentally retarded patients. Recently, multiplex ligation dependent probe amplification (MLPA) was adapted for use in subtelomeric screening. This method detects copy number changes of up to 45 nucleic acid sequences in one simple, PCR based reaction. Briefly, by hybridization of probes to the target sequences, followed by a ligation reaction, a copy is made of each target sequence present in the sample. All probeligation products are subsequently amplified in a multiplex PCR reaction using unique primers attached to the probes. Amplification products are identified and quantified by capillary electrophoresis and copy numbers of target sequences a

Czech name

Metoda MLPA a její přínos z hlediska detekce subtelomerických přestaveb u pacientů s mentální retardací

Czech description

Práce shrnuje možnosti využití techniky MLPA (multiplex ligation dependent probe amplification) při detekci přestaveb subtelomerických oblastí chromozomů u souboru 39 pacientů postižených mentální retardací.

Type

D - Article in proceedings

CEP classification

EB - Genetics and molecular biology

OECD FORD branch

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Project

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Continuities

Z - Vyzkumny zamer (s odkazem do CEZ)

Publication year

2007

Confidentiality

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

Article name in the collection

XI. setkání biochemiků a molekulárních biologů

ISBN

978-80-210-4234-6

ISSN

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e-ISSN

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Number of pages

2

Pages from-to

41-42

Publisher name

Masarykova universita

Place of publication

Brno

Event location

Brno

Event date

Jan 1, 2007

Type of event by nationality

CST - Celostátní akce

UT code for WoS article

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