J Korean Soc Pediatr Endocrinol Search

CLOSE


Ann Pediatr Endocrinol Metab > Volume 4(2); 1999 > Article
Molecular Diagnostic Test for Prader-Willi Syndrome with SNRPN Expression.
So Chung Chung, Duk Hee Kim, Chang Ho Hong
Abstract
PURPOSE
Prader-Willi Syndrome(PWS) is caused by absence of paternal contributions of the chromosome region 15q11-q13. To detact this region, high resolutional cytogenetic analysis, FISH with probe at PWS critical region or microsatellite polymorphism can be used. The gene for the small nuclear ribonucleoprotein polypeptide N(SNRPN) is not expressed in patients with PWS. We conducted molecular analysis with RT-PCR with SNRPN primers to find out more useful diagnostic tool in PWS. METHODS: Four patients with obesity and other characteristics of PWS were studied. The exprssion of SNRPN and control gene were studed by RT-PCR from peripheral lymphocytes. RESULTS :The SNRPN expression in reverse transcribed RNA from blood were easily detected in normal control but not in patients with suspected Parder-Willi Syndrome.
CONCLUSION
We conclude that SNRPN expression study is a useful diagnostic method for detection of Prader-Willi Syndrome.
TOOLS
Share :
Facebook Twitter Linked In Google+
METRICS Graph View
  • 3,059 View
  • 17 Download
Related articles in APEM

Birth seasonality in Korean Prader-Willi syndrome with chromosome 15 microdeletion2015 March;20(1)



ABOUT
ARTICLE CATEGORY

Browse all articles >

BROWSE ARTICLES
AUTHOR INFORMATION
Editorial Office
501-107, 30 Seocho-daero 74-gil, Seocho-gu, Seoul 06622, Republic of Korea
Tel: +82-2-3471-4268    Fax: +82-2-3471-4269    E-mail: editor@e-apem.org                

Copyright © 2024 by Korean Society of Pediatric Endocrinology.

Developed in M2PI

Close layer
prev next