title: [Methylation-specific multiplex ligation-dependent probe amplification in diagnosis of Prader-Willi syndrome and Angelman syndrome].
abstract: 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.
authors.affiliation: Department of Pediatrics, Peking University First Hospital, Beijing 100034, China.
authors.forename: Mei-rong
authors.initials: MR
authors.lastname: Li
authors.forename: Xiao-zhu
authors.initials: XZ
authors.lastname: Wang
authors.forename: Xiao-yan
authors.initials: XY
authors.lastname: Liu
authors.forename: Yan-ling
authors.initials: YL
authors.lastname: Yang
authors.forename: Xin-hua
authors.initials: XH
authors.lastname: Bao
authors.forename: Yue-hua
authors.initials: YH
authors.lastname: Zhang
authors.forename: Hui
authors.initials: H
authors.lastname: Xiong
authors.forename: Nan
authors.initials: N
authors.lastname: Zhong
authors.forename: Jiong
authors.initials: J
authors.lastname: Qin
authors.forename: Xi-ru
authors.initials: XR
authors.lastname: Wu
authors.forename: Hong
authors.initials: H
authors.lastname: Pan
mesh_terms: 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
chemical_list: D015342:DNA Probes; D011933:Reagent Kits, Diagnostic