Value of methylation-specific mutiplex ligation-dependent probe in the diagnosis of Prader-Willi syndrome / 中国当代儿科杂志
Chinese Journal of Contemporary Pediatrics
;
(12): 445-448, 2012.
Article
in Chinese
| WPRIM
| ID: wpr-320624
ABSTRACT
<p><b>OBJECTIVE</b>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.</p><p><b>METHODS</b>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.</p><p><b>RESULTS</b>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.</p><p><b>CONCLUSIONS</b>MS-MLPA is a reliable method of genetic testing for PWS which can distinguish pathogenesis of PWS.</p>
Full text:
Available
Index:
WPRIM (Western Pacific)
Main subject:
Prader-Willi Syndrome
/
Polymerase Chain Reaction
/
DNA Methylation
/
Nucleic Acid Amplification Techniques
/
Diagnosis
/
Genetics
/
Methods
Type of study:
Diagnostic study
Limits:
Child, preschool
/
Female
/
Humans
/
Infant
/
Male
/
Infant, Newborn
Language:
Chinese
Journal:
Chinese Journal of Contemporary Pediatrics
Year:
2012
Type:
Article
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