Multiplex ligation-dependant probe amplification study of children with idiopathic mental retardation in South India
نویسندگان
چکیده
منابع مشابه
identification of chromosome abnormalities in subtelomeric regions using multiplex ligation dependent probe amplification (mlpa) technique in 100 iranian patients with idiopathic mental retardation
materials and methods a number of 100 patients with imr, normal karyotypes and negative fragile-x and metabolic tests were screened for subtelomeric abnormalities using mlpa technique. results nine of 100 patients showed subtelomeric abnormalities with at least one of the two mlpa kits. deletion in a single region was found in 3 patients, and in two different subtelomeric regions in 1 patient. ...
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 کاملScreening for subtelomeric rearrangements in 210 patients with unexplained mental retardation using multiplex ligation dependent probe amplification (MLPA).
BACKGROUND Subtelomeric rearrangements contribute to idiopathic mental retardation and human malformations, sometimes as distinct mental retardation syndromes. However, for most subtelomeric defects a characteristic clinical phenotype remains to be elucidated. OBJECTIVE To screen for submicroscopic subtelomeric aberrations using multiplex ligation dependent probe amplification (MLPA). METHO...
متن کاملIdentification of Chromosome Abnormalities in Subtelomeric Regions Using Multiplex Ligation Dependent Probe Amplification (MLPA) Technique in 100 Iranian Patients With Idiopathic Mental Retardation
BACKGROUND Mental retardation/Developmental delay (MR/DD) is present in 1 - 3% of the general population (1, 2). MR is defined as a significant impairment of both cognitive (IQ < 70) and social adaptive functions, with onset before 18 years of age. OBJECTIVES The purpose was to determine the results of subtelomeric screening by the Multiplex Ligation Dependent Probe Amplification (MLPA) Techn...
متن کاملLigation-independent mechanism of multiplex ligation-dependent probe amplification.
Multiplex ligation-dependent probe amplification (MLPA) is a widely used technique for detecting genomic structural variants. The technique is based on hybridization and ligation, followed by amplification of the ligation products. Therefore, ligation is considered a fundamental process that determines the feasibility and fidelity of MLPA. However, despite the widespread use of this technique, ...
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ژورنال
عنوان ژورنال: Indian Journal of Human Genetics
سال: 2013
ISSN: 0971-6866
DOI: 10.4103/0971-6866.116115