Value of methylation-specific mutiplex ligation-dependent probe in the diagnosis of Prader-Willi syndrome

ZHAN Shi-Na; WANG Chun-Zhi; YANG Yao; WANG Yan; WU Hong-Lin; LI Hao; HE Xi-Yu

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Chinese Journal of Contemporary Pediatrics ›› 2012, Vol. 14 ›› Issue (06) : 445-448.

CLINICAL RESEARCH

Value of methylation-specific mutiplex ligation-dependent probe in the diagnosis of Prader-Willi syndrome

ZHAN Shi-Na, WANG Chun-Zhi, YANG Yao, WANG Yan, WU Hong-Lin, LI Hao, HE Xi-Yu

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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.

Key words

Prader-Willi syndrome / Methylation-specific PCR / Methylation-specific MLPA / Child

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ZHAN Shi-Na, WANG Chun-Zhi, YANG Yao, WANG Yan, WU Hong-Lin, LI Hao, HE Xi-Yu. Value of methylation-specific mutiplex ligation-dependent probe in the diagnosis of Prader-Willi syndrome[J]. Chinese Journal of Contemporary Pediatrics. 2012, 14(06): 445-448

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