Original Article

J Korean Soc Pediatr Endocrinol. 1999; 4(2): 226-230.

Molecular Diagnostic Test for Prader-Willi Syndrome with SNRPN Expression.

So Chung Chung, Duk Hee Kim, and Chang Ho Hong

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.