Development of a multiplex ligation-dependent probe amplification (MLPA) assay for quantification of the OCRL1 gene |
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| Authors: | Charles Coutton Nicole Monnier John Rendu Joël Lunardi |
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| Affiliation: | 1. IMMM, UMR CNRS 6283, Université du Maine, 72085 Le Mans, France;2. Complexity Science Center & Institute of Particle Physics, Central China Normal University, 430079 Wuhan, China;3. HEI-ISA-ISEN Group of Engineering Schools, 59046 Lille, France;4. Max-Planck Institute for Mathematics in the Sciences, Inselst. 22, 04103 Leipzig, Germany;1. Department of Paediatric Allergy & Immunology, Lydia Becker Institute of Immunology & Inflammation, University of Manchester, Manchester, United Kingdom;2. Department of Paediatric Haematology, University of Manchester, Manchester, United Kingdom;3. Department of Paediatric Histopathology, Royal Manchester Children''s Hospital, Manchester, United Kingdom;4. Immunology, Imagine Institute, Paris, France;5. Study Center for Primary Immunodeficiencies, Necker-Enfants Malades Hospital, APHP, Paris, France;6. Institute of Cellular Medicine, University of Newcastle, Newcastle upon Tyne, United Kingdom;1. Laboratório de Biologia Molecular e Genômica, Departamento de Biologia Celular e Genética, Centro de Biociências, Universidade Federal do Rio Grande do Norte, Natal, RN, Brazil;2. Instituto de Medicina Tropical, Departamento de Bioquímica, Universidade Federal do Rio Grande do Norte, Natal, RN, Brazil;3. Departamento de Medicina Clínica, Hospital Universitário Onofre Lopes, Universidade Federal do Rio Grande do Norte, Natal, RN, Brazil;4. Bioinformatics Multidisciplinary Environment, Universidade Federal do Rio Grande do Norte, Natal, RN, Brazil;5. Departamento de Análises Clínicas e Toxicológicas, Faculdade de Farmácia, Universidade Federal do Rio Grande do Norte, Natal, RN, Brazil |
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| Abstract: | ObjectivesTo develop and evaluate the efficacy of Multiplex Ligation-dependent Probe Amplification (MLPA) technique in detection of genomic rearrangements of the OCRL1 gene associated with Oculocerebrorenal syndrome of Lowe (OCRL).Design and methodsFour synthetic MLPA probe sets have been designed to measure exons copy number in OCRL1 gene. After OCRL1 MLPA probe sets validation in 7 OCRL1 deleted patients, we screened 5 female patients to asses their carrier status and 15 patients with suspected OCRL, previously diagnosed as sequence-negative.ResultsMLPA was able to detect all the known deletions. Two of five females were detected as carrier for the family mutation. Neither mosaic deletion nor duplication was found in the 15 patients suspected of having Lowe syndrome.ConclusionsOur MLPA allows rapid and precise OCRL1 gene quantification. Moreover this study provides no further evidence for the hypothesis that duplications and deletion somatic mosaic deletions account for the fraction of patients who have no detectible mutation after the usual screening procedures. |
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