[Value of methylation-specific mutiplex ligation-dependent probe in the diagnosis of Prader-Willi syndrome].
OBJECTIVE
Prader-Willi syndrome (PWS) with different pathogenesis has different clinical manifestations, prognosis and genetic risks. Pathogenesis of the disease cannot be explained by conventional diagnostic method MS-PCR. This study employed methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) for the diagnosis of PWS in order to explore the role of this method in the diagnosis and assessment of pathogenesis of PWS.


METHODS
A system antithetical method was employed. Peripheral blood samples were collected from 30 children for MS-PCR. Of the 30 children, 16 were diagnosed with PWS by MS-PCR and the other 14 showed negative MS-PCR. MS-MLPA kit Me028 was used to detect DNA extracted from the 30 samples.


RESULTS
The results showed by MS-MLPA and MS-PCR were identical. MS-MLPA demonstrated that 4 cases were maternal uniparental disomy and 12 cases were paternal dfeletion in 15q11-q13 region.


CONCLUSIONS
MS-MLPA is a reliable method of genetic testing for PWS which can distinguish pathogenesis of PWS.
Clinical Genetics Center, Bayi Children's Hospital of Beijing Military General Hospital, Beijing 100700, China.
Shi-Na
SN
Zhan
Chun-Zhi
CZ
Wang
Yao
Y
Yang
Yan
Y
Wang
Hong-Lin
HL
Wu
Hao
H
Li
Xi-Yu
XY
He
D002675:Child, Preschool; D019175:DNA Methylation; D005260:Female; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D008297:Male; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D016133:Polymerase Chain Reaction; D011218:Prader-Willi Syndrome / Q000175:diagnosis* / Q000235:genetics