Methylation-Specific Multiplex Ligation-Dependent Probe Amplification and Identification of Deletion Genetic Subtypes in Prader-Willi Syndrome
نویسندگان
چکیده
منابع مشابه
Genetic testing in Indian patients with Prader-Willi syndrome using methylation specific multiplex ligation dependent probe amplification (MS-MLPA)
Prader-Willi syndrome (PWS) is caused by loss of function of genes on chromosome 15; most cases occur when a segment of the paternal chromosome 15 is absent/inactivated. Recently few cases have been identified with truncating mutations in MAGEL2 gene (Chromosome 15). We present clinical features and molecular genetic analysis on 6 patients with features of PWS using MS-MLPA. Four boys and 2 gir...
متن کاملApplications of multiplex ligation-dependent probe amplification (MLPA) method in diagnosis of cancer and genetic disorders
Introduction: Lots of human diseases and syndromes result from partial or complete gene deletions and duplications or changes of certain specific chromosomal sequences. Many various methods are used to study the chromosomal aberrations including Comparative Genomic Hybridization (CGH), Fluorescent in Situ Hybridization (FISH), Southern blots, Multiplex Amplifiable Probe Hybridisation (MAP...
متن کاملMethylation-Specific Multiplex Ligation-Dependent Probe Amplification (MS-MLPA).
This chapter describes a method for the rapid assessment of promoter hypermethylation levels or methylation of imprinted regions in human genomic DNA extracted from various sources using methylation-specific multiplex ligation-dependent probe amplification (MS-MLPA). Multiplex ligation-dependent probe amplification (MLPA) is a powerful and easy-to-perform PCR-based technique that can identify g...
متن کاملMolecular diagnosis of Prader-Willi and Angelman syndromes by methylation-specific melting analysis and methylation-specific multiplex ligation-dependent probe amplification.
BACKGROUND Approximately 99% of Prader-Willi syndrome (PWS) and 80% of Angelman syndrome (AS) cases have deletions at a common region in chromosome 15q11.2-q13, uniparental disomy for chromosome 15 (UPD15), or imprinting center defects affecting gene expression in this region. The resulting clinical phenotype (PWS or AS) in each class of genomic abnormalities depends on the parent of origin. Bo...
متن کاملMethylation-specific multiplex ligation-dependent probe amplification analysis of subjects with chromosome 15 abnormalities.
Prader-Willi syndrome (PWS) and Angelman syndrome (AS) are neurodevelopmental disorders caused by loss of expression of imprinted genes from the 15q11-q13 region. They arise from similar defects in the region but differ in parent of origin. There are two recognized typical 15q11-q13 deletions depending on size and several diagnostic assays are available but each has limitations. We evaluated th...
متن کاملذخیره در منابع من
با ذخیره ی این منبع در منابع من، دسترسی به آن را برای استفاده های بعدی آسان تر کنید
ژورنال
عنوان ژورنال: Genetic Testing and Molecular Biomarkers
سال: 2012
ISSN: 1945-0265,1945-0257
DOI: 10.1089/gtmb.2011.0115