Hum Genet. 1992 Nov;90(3):313-5.

Molecular diagnosis of the Prader-Willi and Angelman syndromes by detection of parent-of-origin specific DNA methylation in 15q11-13.

Dittrich B, Robinson WP, Knoblauch H, Buiting K, Schmidt K, Gillessen-Kaesbach G, Horsthemke B.

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Institut für Humangenetik, Universitätsklinikum Essen, Federal Republic of Germany.

Abstract

The Prader-Willi syndrome (PWS) and the Angelman syndrome (AS) are distinct genetic disorders that are caused by a deletion of chromosome region 15q11-13 or by uniparental disomy for chromosome 15. Whereas PWS results from the absence of a paternal copy of 15q11-13, the absence of a maternal copy of 15q11-13 leads to AS. We have found that an MspI/HpaII restriction site at the D15S63 locus in 15q11-13 is methylated on the maternally derived chromosome, but unmethylated on the paternally derived chromosome. Based on this difference, we have devised a rapid diagnostic test for patients suspected of having PWS and AS.

PMID:: 1487250; [PubMed - indexed for MEDLINE]

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DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63). [Hum Genet. 1995]
DNA diagnosis of Prader-Willi and Angelman syndromes with the probe PW71 (D15S63).
van den Ouweland AM, van der Est MN, Wesby-van Swaay E, Tijmensen TS, Los FJ, Van Hemel JO, Hennekam RC, Meijers-Heijboer HJ, Niermeijer MF, Halley DJ. Hum Genet. 1995 May; 95(5):562-7.
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Cited by 35 PubMed Central articles

Methylation profiling in individuals with uniparental disomy identifies novel differentially methylated regions on chromosome 15. [Genome Res. 2010]
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