PMID: 9643288Jun 27, 1998Paper

A rapid, PCR based test for differential molecular diagnosis of Prader-Willi and Angelman syndromes

Journal of Medical Genetics
K A Chotai, S J Payne

Abstract

Approximately 98% of Prader-Willi syndrome (PWS) and 80% of Angelman syndrome (AS) cases have deletions at a common region in chromosome 15q11-13, uniparental disomy for chromosomes 15 (UPD15), or mutations affecting gene expression in this region. The resulting clinical phenotype (PWS or AS) in each class of mutation depends upon the parent of origin. Both disorders are characterised at the molecular level by abnormal methylation of imprinted genes at 15q11-q13 including the small nuclear ribonucleoprotein N gene (SNRPN). Current diagnostic strategies include high resolution cytogenetics, fluorescence in situ hybridisation (FISH), Southern blot hybridisation, or microsatellite typing. We have developed a novel and rapid diagnostic test for PWS and AS based on differential digestion of expressed (paternally imprinted) SNRPN sequences by the methylation sensitive endonuclease NotI or repressed (maternally imprinted) SNRPN sequences by the methylation requiring nuclease McrBC, followed by PCR amplification of the SNRPN promoter. We have evaluated this test by blinded analysis of 60 characterised DNA samples (20 PWS, 20 AS, and 20 unaffected controls). SNRPN sequences could not be amplified from PWS patient DNA which had been dige...Continue Reading

References

Mar 23, 1991·Lancet·S MalcolmM E Pembrey
Dec 1, 1993·Human Molecular Genetics·C C GlennD J Driscoll
May 1, 1997·Nature Genetics·C F Inglehearn

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Citations

Apr 7, 2007·Neurogenetics·Maria Teresa BonatiLidia Larizza
May 19, 2011·European Journal of Human Genetics : EJHG·Jennifer BoyleJ Ross Hawkins
May 20, 2000·The Journal of Perinatal & Neonatal Nursing·C A Prows, R J Hopkin
Dec 6, 2003·Genome Research·Pablo D RabinowiczRobert A Martienssen
May 13, 2010·BMC Medical Genetics·Simon C RamsdenKarin Buiting
Oct 20, 2011·International Journal of Pediatric Endocrinology·Mary CatalettoBarbara Whitman
Aug 4, 2009·Forensic Science International. Genetics·Nori NakayashikiMasaki Hashiyada
Dec 17, 2008·Forensic Science International. Genetics·Daixin HuangHui Yin
Apr 18, 2003·Clinical Endocrinology·Charlotte HöybyeMarja Thorén
Sep 27, 2005·Forensic Science International : Synergy·Guisen ZhaoKun Mei
Dec 1, 1999·American Journal of Human Genetics·K BuitingB Horsthemke
Mar 4, 2014·The Journal of Pediatrics·Beyhan TuysuzNihan Erginel-Unaltuna
Dec 12, 2012·Nutrition, Metabolism, and Cardiovascular Diseases : NMCD·G GrugniP Brambilla
Apr 30, 2016·Wiley Interdisciplinary Reviews. Nanomedicine and Nanobiotechnology·Brandon W HeimerHadley D Sikes
Oct 3, 2003·European Journal of Human Genetics : EJHG·Bernhard HorsthemkeHelga Weirich
Jan 19, 2008·American Journal of Medical Genetics. Part a·Graziano GrugniUNKNOWN Genetic Obesity Study Group of Italian Society of Pediatric Endocrinology and Diabetology (ISPED)
Jun 27, 2019·European Journal of Human Genetics : EJHG·Jasmin BeygoDeniz Kanber

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