✦ LIBER ✦

Methylation PCR analysis of Prader-Willi syndrome, Angelman syndrome, and control subjects

✍ Scribed by Muralidhar, Bethi; Butler, Merlin G.

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 8 KB
Volume: 80
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19981116)80:3<263::aid-ajmg16>3.0.co;2-g

No coin nor oath required. For personal study only.

✦ Synopsis

We report on a relatively large survey of Prader-Willi syndrome, Angelman syndrome, and control subjects with the newly described methylation polymerase chain reaction (PCR) method to determine its usefulness for molecular diagnosis. Sixty-one Prader-Willi syndrome (PWS) individuals (26 men and 35 women), 9 Angelman syndrome (AS) patients (5 men and 4 women), and 58 other individuals were studied with methylation PCR following sodium bisulfite treatment of genomic DNA. In addition, multiple tissues, including fetal tissue, were studied from several individuals to determine the effects of various tissues on methylation PCR results. The expected methylation PCR result was observed in each case. This PCR-based assay evaluates the methylation status of the CpG island of the SNRPN gene and allows for rapid molecular diagnosis of PWS or AS with less labor than Southern hybridization for methylation analysis. The PCR results were identical to those achieved by Southern hybridization in those individuals studied. Am.

📜 SIMILAR VOLUMES

Prader-Willi and Angelman syndromes: Dia

Prader-Willi and Angelman syndromes: Diagnosis with a bisulfite-treated methylation-specific PCR method

✍ Kosaki, Kenjiro; McGinniss, Matthew J.; Veraksa, Alexey N.; McGinnis, William J. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 36 KB 👁 1 views

The putative promoter region of the SNRPN gene contains a CpG island which is heavily methylated in the maternally derived allele and unmethylated in the paternally derived allele. In patients with Prader-Willi syndrome (PWS) only the methylated allele is present, while in those with Angelman syndro

Potential pitfall in Prader-Willi syndro

Potential pitfall in Prader-Willi syndrome and Angelman syndrome molecular diagnosis

✍ Cuisset, Laurence; Vasseur, Christian; Jeanpierre, Marc; Delpech, Marc; Nos�da, 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 14 KB 👁 2 views

Mosaicism in Prader-Willi syndrome

✍ Nicholls, Robert D. 📂 Article 📅 2000 🏛 John Wiley and Sons 🌐 English ⚖ 4 KB 👁 2 views

Several recent studies have suggested the presence of mosaicism for a deletion, detected by fluorescence in situ hybridization (FISH), within chromosome 15q11-q13 in Prader-Willi syndrome (PWS) [Mowery-Rushton et al., 1996;Malzac et al., 1998;Golden et al., 1999]. However, the evidence supporting mo

Prader-Willi syndrome: Abstracts of a co

Prader-Willi syndrome: Abstracts of a conference

✍ Whitman, Barbara Y. 📂 Article 📅 1997 🏛 John Wiley and Sons 🌐 English ⚖ 18 KB 👁 2 views

Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are distinct developmental disorders caused by absence of paternal or maternal contributions of the chromosome region 15q11-q13, resulting from deletions, uniparental disomy (UPD), or rare imprinting mutations. Molecular cytogenetic diagnosis is

Comparison of leptin protein levels in P

Comparison of leptin protein levels in Prader-Willi syndrome and control individuals

✍ Butler, Merlin G.; Moore, Jason; Morawiecki, Andrew; Nicolson, Margery 📂 Article 📅 1998 🏛 John Wiley and Sons 🌐 English ⚖ 26 KB 👁 2 views

Prader-Willi syndrome (PWS) is characterized by early childhood obesity, mental deficiency, hypogonadism, hypotonia, hypopigmentation, short stature, small hands and feet, and a characteristic face. It is the most common genetic cause of obesity and obesity is the most significant health problem for

Behavior and emotional disturbance in Pr

Behavior and emotional disturbance in Prader-Willi syndrome

✍ Einfeld, Stewart L.; Smith, Arabella; Durvasula, Seeta; Florio, Tony; Tonge, Bru 📂 Article 📅 1999 🏛 John Wiley and Sons 🌐 English ⚖ 27 KB 👁 2 views

## To determine if persons with the Prader-Willi syndrome (PWS) have increased psyc h o p a t h o l o g y w h e n c o m p a r e d w i t h matched controls, and whether there is a specific behavior phenotype in PWS, the behavior of 46 persons with PWS was compared with that of control individuals d