ABSTRACT
In recent years, Brazilian Nuclear Programme has been reviewed and updated by government authorities in face of the demand for energy supply and its associated environmental constraints. The immediate impact of new national programmes and projects in nuclear field is the increase in the number of exposed personnel and the consequent need for reliable dosimetry services in the country. Several Technical Documents related to internal dosimetry have been released by the International Atomic Energy Agency and International Commission on Radiological Protection. However, standard bioassay procedures and methodologies for bioassay data interpretation are still under discussion and, in some cases, both in routine and emergency internal monitoring, procedures can vary from one laboratory to another and responses may differ markedly among Dosimetry Laboratories. Thus, it may be difficult to interpret and use bioassay data generated from different laboratories of a network. The main goal of this work is to implement a National Network of Laboratories aimed to provide reliable internal monitoring services in Brazil. The establishment of harmonised in vivo and in vitro radioanalytical techniques, dose assessment methods and the implementation of the ISO/IEC 17025 requirements will result in the recognition of technical competence of the network.
Subject(s)
Occupational Exposure/prevention & control , Radiation Monitoring/standards , Radiation Protection/standards , Radiometry/standards , Accreditation , Biological Assay/methods , Brazil , Geography , Humans , Nuclear Power Plants , Quality Control , Radiation Monitoring/methods , Radiation Protection/methods , Radiometry/methodsABSTRACT
Fragile X syndrome is one of the most frequent causes of mental retardation. Since the phenotype in this syndrome is quite variable, clinical diagnosis is not easy and molecular laboratory diagnosis is necessary. Usually DNA from blood cells is used in molecular tests to detect the fragile X mutation which is characterized by an unstable expansion of a CGG repeat in the fragile X mental retardation gene (FMR1). In the present study, blood and buccal cells of 53 mentally retarded patients were molecularly analyzed for FMR1 mutation by PCR. Our data revealed that DNA extraction from buccal cells is a useful noninvasive alternative in the screening of the FMR1 mutation among mentally retarded males.
Subject(s)
DNA/analysis , Fragile X Mental Retardation Protein/genetics , Fragile X Syndrome/diagnosis , Genetic Testing/methods , Mouth Mucosa/chemistry , Mutation/genetics , Adolescent , Adult , Child , Child, Preschool , Feasibility Studies , Fragile X Syndrome/genetics , Fragile X Syndrome/psychology , Humans , Male , Polymerase Chain ReactionABSTRACT
Fragile X syndrome is one of the most frequent causes of mental retardation. Since the phenotype in this syndrome is quite variable, clinical diagnosis is not easy and molecular laboratory diagnosis is necessary. Usually DNA from blood cells is used in molecular tests to detect the fragile X mutation which is characterized by an unstable expansion of a CGG repeat in the fragile X mental retardation gene (FMR1). In the present study, blood and buccal cells of 53 mentally retarded patients were molecularly analyzed for FMR1 mutation by PCR. Our data revealed that DNA extraction from buccal cells is a useful noninvasive alternative in the screening of the FMR1 mutation among mentally retarded males.
