Value of methylation-specific mutiplex ligation-dependent probe in the diagnosis of Prader-Willi syndrome.
- Author:
Shi-Na ZHAN
1
;
Chun-Zhi WANG
;
Yao YANG
;
Yan WANG
;
Hong-Lin WU
;
Hao LI
;
Xi-Yu HE
Author Information
- Publication Type:Journal Article
- MeSH: Child, Preschool; DNA Methylation; Female; Humans; Infant; Infant, Newborn; Male; Nucleic Acid Amplification Techniques; methods; Polymerase Chain Reaction; Prader-Willi Syndrome; diagnosis; genetics
- From: Chinese Journal of Contemporary Pediatrics 2012;14(6):445-448
- CountryChina
- Language:Chinese
-
Abstract:
OBJECTIVEPrader-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.
METHODSA 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.
RESULTSThe 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.
CONCLUSIONSMS-MLPA is a reliable method of genetic testing for PWS which can distinguish pathogenesis of PWS.
