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[Methylation-specific multiplex ligation-dependent probe amplification in diagnosis of Prader-Willi syndrome and Angelman syndrome].

AbstractOBJECTIVE:
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.
CONCLUSION:
MS-MLPA is a simple, rapid, accurate, and reliable method of genetic test.
AuthorsMei-rong Li, Xiao-zhu Wang, Xiao-yan Liu, Yan-ling Yang, Xin-hua Bao, Yue-hua Zhang, Hui Xiong, Nan Zhong, Jiong Qin, Xi-ru Wu, Hong Pan
JournalZhonghua yi xue za zhi (Zhonghua Yi Xue Za Zhi) Vol. 88 Issue 46 Pg. 3257-61 (Dec 16 2008) ISSN: 0376-2491 [Print] China
PMID19159549 (Publication Type: English Abstract, Journal Article)
Chemical References
  • DNA Probes
  • Reagent Kits, Diagnostic
Topics
  • Angelman Syndrome (diagnosis, genetics)
  • Child
  • Chromosomes, Human, Pair 15 (genetics)
  • DNA Probes
  • Humans
  • Methylation
  • Nucleic Acid Amplification Techniques (methods)
  • Prader-Willi Syndrome (diagnosis, genetics)
  • Reagent Kits, Diagnostic

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