Molecular Diagnostic Test for Prader-Willi Syndrome with SNRPN Expression / 대한소아내분비학회지
Journal of Korean Society of Pediatric Endocrinology
;
: 226-230, 1999.
Article
in Korean
| WPRIM
| ID: wpr-168799
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.
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prader-Willi Syndrome
/
RNA
/
Lymphocytes
/
Ribonucleoproteins, Small Nuclear
/
Microsatellite Repeats
/
Cytogenetic Analysis
/
SnRNP Core Proteins
/
Pathology, Molecular
/
Obesity
Type of study:
Diagnostic study
Limits:
Humans
Language:
Korean
Journal:
Journal of Korean Society of Pediatric Endocrinology
Year:
1999
Type:
Article
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