Szpecht-Potocka A, Gos M, Struniawski R, Obersztyn E, Bal J
[Analysis of genomic imprinting defects in Angelman syndrome with application of quantitative real-time PCR.] [JOURNAL ARTICLE]
Med Wieku Rozwoj 2009; XIII(2):114-122.
BACKGROUND: Angelman Syndrome (AS) is a neurogenetic disorder associated with aberrant genomic imprinting. AS patients with an imprinting defect have only paternal genes expression pattern despite the normal biparental inheritance of chromosome 15. In 2-3% of AS cases, the altered gene expression is a consequence of an imprinting defect (ID) such as microdeletions in imprinting centre (IC). Statistically, one third of patients with an imprinting defect and no IC deletion have somatic mosaicism.
OBJECTIVES: The objectives of this study were: identification of somatic mosaicism for an imprinting defect in the patients with clinical manifestation of AS and development of a procedure for the identification of IC microdeletion.
MATERIAL AND METHODS: Twenty eight AS patients with an aberrant methylation pattern confirmed in methylation screening procedure (MS-PCR) were qualified for mosaicism analysis with quantitative Real-Time PCR technique.
RESULTS: The quantitative analysis of methylated alleles did not confirm the presence of somatic mosaicism in any of the examined patients.
CONCLUSIONS: The methods for somatic mosaicism and microdeletion in IC analyses based on quantitative Real-Time PCR technique can be used in the molecular diagnostic of Angelman syndrome.
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