[Diagnosis of Prader-Willi syndrome by reverse transcriptase polymerase chain reaction].
To approve Prader-Willi syndrome by molecular diagnostic assay, polymerase chain reaction of reverse-transcribed RNA was introduced by which indirect information can be gained on all known forms of the mutation. In this pilot study, 4 patients and 16 healthy control individuals were examined. Although the different mutation forms can not directly by identified by this approach, it is a useful and reliable test to confirm the clinical diagnosis of the Prader-Willi syndrome, and to screen for the syndrome in patients who present with only a few typical features.
Magyar Tudományos Akadémia-Pécsi Orvostudományi Egyetem Klinikai Genetikai Tanszéki Kutatócsoport.
T
T
Varjas
E
E
Nádasi
E
E
Kovács
J
J
Molnár
B
B
Melegh
G
G
Kosztolányi
D006801:Humans; D016133:Polymerase Chain Reaction; D011218:Prader-Willi Syndrome / Q000175:diagnosis / Q000235:genetics*; D012194:RNA-Directed DNA Polymerase; D018894:Reverse Transcriptase Inhibitors
D018894:Reverse Transcriptase Inhibitors; D012194:RNA-Directed DNA Polymerase