[Methylation-specific multiplex ligation-dependent probe amplification in diagnosis of Prader-Willi syndrome and Angelman syndrome].
OBJECTIVE
To verify the sensitivity and reliability of methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA) and to develop a simple, accurate, reliability method of genetic diagnosis for AS and PWS.


METHODS
Peripheral blood samples were collected from 4 suspected AS patients, 2 suspected PWS patients, 2 normal persons, and 2 molecular biologically proven positive controls (1 AS patient and 1 PWS patient). DNA was extracted and purified. MS-MLPA was used to detect the methylation of the CpG dinucleotide and the copy number in the 15q-q13 region. The results of MS-MLPA were confirmed by MSP.


RESULTS
Three cases with maternal deletion on 15q11-q13 region and one case with paternal uniparental disomy (UPD) or imprinting center defect in 15q11-q13 region were found in the 4 suspected AS patients. One PWS case was found to be with paternal deletion in 15q11-q13 region and the other with paternal deletion in 15q11-q13 region or UPD or imprinting center defect in 15q11-q13 region.


CONCLUSIONS
MS-MLPA is a simple, rapid, accurate, and reliable method of genetic test.
Li
Mei-rong
MR
Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
Wang
Xiao-zhu
XZ
Liu
Xiao-yan
XY
Yang
Yan-ling
YL
Bao
Xin-hua
XH
Zhang
Yue-hua
YH
Xiong
Hui
H
Zhong
Nan
N
Qin
Jiong
J
Wu
Xi-ru
XR
Pan
Hong
H
D017204:Angelman Syndrome / Q000175:diagnosis* / Q000235:genetics; D002648:Child; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D015342:DNA Probes; D006801:Humans; D008745:Methylation; D021141:Nucleic Acid Amplification Techniques / Q000379:methods*; D011218:Prader-Willi Syndrome / Q000175:diagnosis* / Q000235:genetics; D011933:Reagent Kits, Diagnostic
D015342:DNA Probes; D011933:Reagent Kits, Diagnostic