A novel MSP/DHPLC method for the investigation of the methylation status of imprinted genes enables the molecular detection of low cell mosaicisms

We describe a new procedure for the analysis of the methlyation status of imprinted genes based on methylation‐specific PCR followed by denaturing high performance liquid chromatography (MSP/DHPLC). The method offers a rapid and very reliable alternative to conventional methods used for such purpose...

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Veröffentlicht in:	Human mutation 2001-05, Vol.17 (5), p.423-430
Hauptverfasser:	Baumer, Alessandra, Wiedemann, Ute, Hergersberg, Martin, Schinzel, Albert
Format:	Artikel
Sprache:	eng
Schlagworte:	Adult allele-specific Alleles Angelman syndrome Angelman Syndrome - genetics Autoantigens - genetics Beckwith-Wiedemann syndrome Beckwith-Wiedemann Syndrome - genetics Blotting, Southern BWS Caenorhabditis elegans Proteins Child Chromatography, High Pressure Liquid - methods DHPLC DNA Methylation Female Genomic Imprinting - genetics H19 Humans IGF2 imprinted genes Infant KCNQ1OT1 LIT1 Male Membrane Proteins methylation methylation, allele‐specific methylation-specific PCR Molecular Sequence Data mosaicism Mosaicism - genetics Nucleic Acid Denaturation Polymerase Chain Reaction - methods Prader Willi syndrome Prader-Willi Syndrome - genetics Protein-Serine-Threonine Kinases - genetics PWS Reproducibility of Results Ribonucleoproteins, Small Nuclear Sensitivity and Specificity snRNP Core Proteins SNRPN Substrate Specificity Temperature Time Factors UBE3A
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