{"id":{"repo_id":"aachen","oai_identifier":"oai:publications.rwth-aachen.de:61788"},"canonical_url":"https://search.dev.ndltd.org/etd/aachen/oai:publications.rwth-aachen.de:61788","repository":{"repo_id":"aachen","name":"RWTH Aachen University","base_url":"https://publications.rwth-aachen.de/oai2d"},"display":{"title":"Zur Differenzierung hereditärer sensomotorischer Neuropathien mittels Mutationsanalyse des P0-Gens an Paraffin-eingebetteten Suralnervenbiopsien","abstract":"HMSN is a heterogenous entity of genetically determined disorders of the peripheral nervous system. Clinical and morphological data sometimes do not allow to come to a definite diagnosis regarding the subtype of the disease. Therefore, genetic investigations are essential. The present dissertation focuses on point mutations in the P0 gene which plays a major role in myelination of the peripheral nervous system. The DNA of 43 patients was extracted from paraffin embedded sural nerve biopsies and amplified by PCR. To screen for point mutations Enzyme Mutation Detection Capillary Electrophoresis (EMD-CE) was used. This method is based on a resolvase, an enzyme which cleaves the DNA in case of irregularities caused by point mutations. The resulting fragments were detected on the ABI PRISM 310 by capillary electrophoresis. In addition to that Sequencing Analysis was used to specify the mutations. Four different mutations were found: In one case genetic analysis revealed a novel Ala237Thr exchange in exon 6. The diagnosis of CMT2, based on clinical and histological data, could be confirmed. The mutation could not be found in any the patient´s relatives. One point mutation resulting in a Glycin206stop codon was detected in exon 5. The patient showed both signs of hypomyelination such as mitochondrial myopathy. No similar combination of mitochondrial myopathy and HMSN has been reported in literature. In two other patients different polymorphisms were detected, located in exon 5 respectively 6 of the P0 gene, not leading to a change in the amino acid sequence and therefore not playing a pathogenous role.","abstract_html":"HMSN is a heterogenous entity of genetically determined disorders of the peripheral nervous system. Clinical and morphological data sometimes do not allow to come to a definite diagnosis regarding the subtype of the disease. Therefore, genetic investigations are essential. The present dissertation focuses on point mutations in the P0 gene which plays a major role in myelination of the peripheral nervous system. The DNA of 43 patients was extracted from paraffin embedded sural nerve biopsies and amplified by PCR. To screen for point mutations Enzyme Mutation Detection Capillary Electrophoresis (EMD-CE) was used. This method is based on a resolvase, an enzyme which cleaves the DNA in case of irregularities caused by point mutations. The resulting fragments were detected on the ABI PRISM 310 by capillary electrophoresis. In addition to that Sequencing Analysis was used to specify the mutations. Four different mutations were found: In one case genetic analysis revealed a novel Ala237Thr exchange in exon 6. The diagnosis of CMT2, based on clinical and histological data, could be confirmed. The mutation could not be found in any the patient´s relatives. One point mutation resulting in a Glycin206stop codon was detected in exon 5. The patient showed both signs of hypomyelination such as mitochondrial myopathy. No similar combination of mitochondrial myopathy and HMSN has been reported in literature. In two other patients different polymorphisms were detected, located in exon 5 respectively 6 of the P0 gene, not leading to a change in the amino acid sequence and therefore not playing a pathogenous role.","abstract_has_math":false,"creators":["Vitt, Cornelia Verena"],"institution":"Publikationsserver der RWTH Aachen University","degree_name":null,"degree_level":null,"degree_discipline":null,"degree_department":null,"school":null,"contributors":["Schröder, J. 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Clinical and morphological data sometimes do not allow to come to a definite diagnosis regarding the subtype of the disease. Therefore, genetic investigations are essential. The present dissertation focuses on point mutations in the P0 gene which plays a major role in myelination of the peripheral nervous system. The DNA of 43 patients was extracted from paraffin embedded sural nerve biopsies and amplified by PCR. To screen for point mutations Enzyme Mutation Detection Capillary Electrophoresis (EMD-CE) was used. This method is based on a resolvase, an enzyme which cleaves the DNA in case of irregularities caused by point mutations. The resulting fragments were detected on the ABI PRISM 310 by capillary electrophoresis. In addition to that Sequencing Analysis was used to specify the mutations. Four different mutations were found: In one case genetic analysis revealed a novel Ala237Thr exchange in exon 6. 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