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.
journal_name
Hum Genetjournal_title
Human geneticsauthors
Dittrich B,Robinson WP,Knoblauch H,Buiting K,Schmidt K,Gillessen-Kaesbach G,Horsthemke Bdoi
10.1007/BF00220089keywords:
subject
Has Abstractpub_date
1992-11-01 00:00:00pages
313-5issue
3eissn
0340-6717issn
1432-1203journal_volume
90pub_type
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