Statements in which the resource exists as a subject.
PredicateObject
rdf:type
lifeskim:mentions
pubmed:issue
50
pubmed:dateCreated
2009-12-2
pubmed:abstractText
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.
pubmed:language
hun
pubmed:journal
pubmed:citationSubset
IM
pubmed:chemical
pubmed:status
MEDLINE
pubmed:month
Dec
pubmed:issn
0030-6002
pubmed:author
pubmed:issnType
Print
pubmed:day
13
pubmed:volume
150
pubmed:owner
NLM
pubmed:authorsComplete
Y
pubmed:pagination
2258-64
pubmed:meshHeading
pubmed-meshheading:19951857-Adrenal Hyperplasia, Congenital, pubmed-meshheading:19951857-Chromatography, High Pressure Liquid, pubmed-meshheading:19951857-Comparative Genomic Hybridization, pubmed-meshheading:19951857-Gene Deletion, pubmed-meshheading:19951857-Genetic Predisposition to Disease, pubmed-meshheading:19951857-Genetic Techniques, pubmed-meshheading:19951857-Humans, pubmed-meshheading:19951857-In Situ Hybridization, Fluorescence, pubmed-meshheading:19951857-Microsatellite Repeats, pubmed-meshheading:19951857-Oligonucleotide Array Sequence Analysis, pubmed-meshheading:19951857-Polymerase Chain Reaction, pubmed-meshheading:19951857-Reverse Transcriptase Polymerase Chain Reaction, pubmed-meshheading:19951857-Sequence Analysis, DNA, pubmed-meshheading:19951857-Steroid 21-Hydroxylase, pubmed-meshheading:19951857-Von Hippel-Lindau Tumor Suppressor Protein, pubmed-meshheading:19951857-von Hippel-Lindau Disease
pubmed:year
2009
pubmed:articleTitle
[Methods for the analysis of large gene deletions and their application in some hereditary diseases].
pubmed:affiliation
Semmelweis Egyetem, Altalános Orvostudományi Kar II. Belgyógyászati Klinika Budapest.
pubmed:publicationType
Journal Article, English Abstract, Review