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

D 2007

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

VRANOVÁ, Vladimíra; Klára MACKOVÁ a Petr KUGLÍK

Základní údaje

Originální název

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

Název česky

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

Autoři

VRANOVÁ, Vladimíra; Klára MACKOVÁ a Petr KUGLÍK

Vydání

Brno, XI. setkání biochemiků a molekulárních biologů, od s. 41-42, 2 s. 2007

Nakladatel

Masarykova universita

Další údaje

Jazyk

angličtina

Typ výsledku

Stať ve sborníku

Obor

Genetika a molekulární biologie

Stát vydavatele

Česká republika

Utajení

není předmětem státního či obchodního tajemství

Označené pro přenos do RIV

Ano

Kód RIV

RIV/00216224:14310/07:00022308

Organizační jednotka

Přírodovědecká fakulta

ISBN

978-80-210-4234-6

Klíčová slova anglicky

Mental retardation; MLPA; subtelomeric abnormalities; chromosomal aberrations

Štítky

chromosomal aberrations, mental retardation, MLPA, subtelomeric abnormalities

Změněno: 29. 6. 2007 14:26, doc. RNDr. Petr Kuglík, CSc.

Anotace

ORIG CZ

V originále

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 probe ligation 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 are determined by comparison to a control sample. We used MLPA with SALSA P036b and P070 human telomere test kits to test 4 patients with known subtelomeric rearrangements as positive controls and 35 patients with idiopathic mental retardation and dysmorphic features from Department of Medical Genetics, University Hospital Brno. From these 39 patients, 15 were tested using both kits and in 2 patients subtelomeric aberrations were detected: a terminal Xp/Yp duplication, and a terminal 8p duplication in the patient with primary known terminal 4p deletion. In the rest of 24 patients, tested only by P036B kit, another 3 possible subtelomeric changes were detected. However, these changes must be verified using the second kit or by FISH analysis. We also showed that MLPA is able to detect only subtelomeric aberrations present in minimally 50% of the cells. Our study confirms the diagnostic value of subtelomeric screening, especially in mentally retarded patients with dysmorphic features. This study also demonstrates that MLPA is a fast and reliable screening method for subtelomeric abnormalities, potentially suitable for use in routine diagnostics.

Česky

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

Návaznosti

MSM0021622415, záměr

Název: Molekulární podstata buněčných a tkáňových regulací

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

Citovat

VRANOVÁ, Vladimíra; Klára MACKOVÁ a Petr KUGLÍK. MLPA as useful approach for detection of subtelomeric abnormalities in patients with mental retardation and dysmorphic features. In XI. setkání biochemiků a molekulárních biologů. Brno: Masarykova universita, 2007, s. 41-42. ISBN 978-80-210-4234-6.

@inproceedings{720663,
   author = {Vranová, Vladimíra and Macková, Klára and Kuglík, Petr},
   address = {Brno},
   booktitle = {XI. setkání biochemiků a molekulárních biologů},
   keywords = {Mental retardation; MLPA; subtelomeric abnormalities; chromosomal aberrations},
   language = {eng},
   location = {Brno},
   isbn = {978-80-210-4234-6},
   pages = {41-42},
   publisher = {Masarykova universita},
   title = {MLPA as useful approach for detection of subtelomeric abnormalities in patients with mental retardation and dysmorphic features},
   year = {2007}
}

TY  - CONF
ID  - 720663
AU  - Vranová, Vladimíra - Macková, Klára - Kuglík, Petr
PY  - 2007
TI  - MLPA as useful approach for detection of subtelomeric abnormalities in patients with mental retardation and dysmorphic features
PB  - Masarykova universita
CY  - Brno
SN  - 9788021042346
KW  - Mental retardation
KW  - MLPA
KW  - subtelomeric abnormalities
KW  - chromosomal aberrations
N2  - 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 probe ligation 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 are determined by comparison to a control sample. We used MLPA with SALSA P036b and P070 human telomere test kits to test 4 patients with known subtelomeric rearrangements as positive controls and 35 patients with idiopathic mental retardation and dysmorphic features from Department of Medical Genetics, University Hospital Brno. From these 39 patients, 15 were tested using both kits and in 2 patients subtelomeric aberrations were detected: a terminal Xp/Yp duplication, and a terminal 8p duplication in the patient with primary known terminal 4p deletion. In the rest of 24 patients, tested only by P036B kit, another 3 possible subtelomeric changes were detected. However, these changes must be verified using the second kit or by FISH analysis. We also showed that MLPA is able to detect only subtelomeric aberrations present in minimally 50% of the cells. Our study confirms the diagnostic value of subtelomeric screening, especially in mentally retarded patients with dysmorphic features. This study also demonstrates that MLPA is a fast and reliable screening method for subtelomeric abnormalities, potentially suitable for use in routine diagnostics.
ER  -

VRANOVÁ, Vladimíra; Klára MACKOVÁ a Petr KUGLÍK. MLPA as useful approach for detection of subtelomeric abnormalities in patients with mental retardation and dysmorphic features. In \textit{XI. setkání biochemiků a molekulárních biologů}. Brno: Masarykova universita, 2007, s.~41-42. ISBN~978-80-210-4234-6.

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