Abstract：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.
ZHAN Shi-Na,WANG Chun-Zhi,YANG Yao et al. Value of methylation-specific mutiplex ligation-dependent probe in the diagnosis of Prader-Willi syndrome[J]. CJCP, 2012, 14(06): 445-448.
［1］Vogels A, Van Den Ende J, Keymolen K, Mortier G, Devriendt K, Legius E, et al. Minimum prevalenve, birth incidence and cause of death for Prader-Willi syndrome in Flander［J］. Eur J Hum Genet, 2004, 12(3): 238-240.
［2］Thomson AK, Glasson EJ, Bittles AH. A long-term population-based clinical and morbidity review of Prader-Willi syndrome in Western Australia［J］. J Intellect Disabil Res, 2006, 50(Pt 1): 69-78.
［3］Shao XY, Zhang R, Hu C, Wang CR, Lu JY, Qin W, et al. Precise microdeletion detection of Prader-Willi Syndrome with array comparative genome hybridization［J］. Biomed Environ Sci, 2010, 23(3): 194-198.
［5］Torrado M, Araoz V, Baialardo E, Abraldes K, Mazza C, Krochik G, et al. Clinical-etiologic correlation in children with Prader-Willi syndrome (PWS): an interdisciplinary study［J］. Am J Med Genet A, 2007, 143(5): 460-468.
［6］Descheemaeker MJ, Govers V, Vermeulen P, Fryns JP. Peryasive developmental disorders in Prader-Willi syndrome: the Leuven experience in 59 subjects and controls［J］. Am J Med Genet A, 2006, 140(11): 1136-1142.
［7］Nygren AO, Ameziane N, Duarte HM, Vijzelaar RN, Waisfisz Q, Hess CJ, et al. Methylation-specific MLPA (MS-MLPA): simultaneous detection of CpG methylation and copy number changes of up to 40 sequences［J］. Nucleic Acids Res, 2005, 33(14): e128.
［8］Bittel DC, Kibiryeva N, Butler MG. Methylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities［J］. Gene Test, 2007, 11(4): 467-475.
