A nagy géndeletiók kimutatásának módszerei és alkalmazásuk egyes örökletes betegségekben

Translated title of the contribution: Methods for the analysis of large gene deletions and their application in some monogenic disorders

Péter Gergics, Judit Toe, Ágnes Szilágyi, Ágnes Szappanos, Zoltán Kender, György Barta, Miklós Tóth, P. Igaz, K. Rácz, A. Patócs

Research output: Contribution to journalArticle

3 Citations (Scopus)

Abstract

Complete or partial gene deletions and copy number variations of disease-causing genes have pathophysiological significance in several monogenic hereditary diseases. Direct DNA sequencing is not suitable for the detection of these genetic abnormalities. In this work, authors review methods of large gene deletion testing and present their own results in two monogenic diseases to demonstrate the application of current methods in clinical practice. Classical methods (chromosome banding, Southern-hybridisation, fluorescent in situ hybridisation), polymerase chain reaction-based techniques (denaturing high performance liquid chromatography, quantitative real-time polymerase chain reaction, microsatellite marker analysis, multiple amplifiable probe hybridisation, multiple ligation probe amplification) as well as techniques based on recent advances in bioinformatics (comparative genome hybridisation, array-based analysis) are presented. Finally, authors present their own findings on large deletion testing of the VHL gene using quantitative real-time polymerase chain reaction and multiple ligation probe amplification in patients with von Hippel-Lindau disease and review a simple polymerase chain reaction method for the detection of large deletion of the CYP21A2 gene in patients with congenital adrenal hyperplasia.

Original languageHungarian
Pages (from-to)2258-2264
Number of pages7
JournalOrvosi Hetilap
Volume150
Issue number50
DOIs
Publication statusPublished - Dec 1 2009

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Gene Deletion
Ligation
Real-Time Polymerase Chain Reaction
Chromosome Banding
von Hippel-Lindau Disease
Congenital Adrenal Hyperplasia
Polymerase Chain Reaction
Inborn Genetic Diseases
Comparative Genomic Hybridization
Gene Dosage
Computational Biology
Fluorescence In Situ Hybridization
DNA Sequence Analysis
Microsatellite Repeats
Genes
High Pressure Liquid Chromatography

ASJC Scopus subject areas

  • Medicine(all)

Cite this

A nagy géndeletiók kimutatásának módszerei és alkalmazásuk egyes örökletes betegségekben. / Gergics, Péter; Toe, Judit; Szilágyi, Ágnes; Szappanos, Ágnes; Kender, Zoltán; Barta, György; Tóth, Miklós; Igaz, P.; Rácz, K.; Patócs, A.

In: Orvosi Hetilap, Vol. 150, No. 50, 01.12.2009, p. 2258-2264.

Research output: Contribution to journalArticle

Gergics, P, Toe, J, Szilágyi, Á, Szappanos, Á, Kender, Z, Barta, G, Tóth, M, Igaz, P, Rácz, K & Patócs, A 2009, 'A nagy géndeletiók kimutatásának módszerei és alkalmazásuk egyes örökletes betegségekben', Orvosi Hetilap, vol. 150, no. 50, pp. 2258-2264. https://doi.org/10.1556/OH.2009.28755
Gergics P, Toe J, Szilágyi Á, Szappanos Á, Kender Z, Barta G et al. A nagy géndeletiók kimutatásának módszerei és alkalmazásuk egyes örökletes betegségekben. Orvosi Hetilap. 2009 Dec 1;150(50):2258-2264. https://doi.org/10.1556/OH.2009.28755
Gergics, Péter ; Toe, Judit ; Szilágyi, Ágnes ; Szappanos, Ágnes ; Kender, Zoltán ; Barta, György ; Tóth, Miklós ; Igaz, P. ; Rácz, K. ; Patócs, A. / A nagy géndeletiók kimutatásának módszerei és alkalmazásuk egyes örökletes betegségekben. In: Orvosi Hetilap. 2009 ; Vol. 150, No. 50. pp. 2258-2264.
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