Rapid screening of myelin genes in CMT1 patients by SSCP analysis: identification of new mutations and polymorphisms in the P0 gene |
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Authors: | Eva Nelis Vincent Timmerman Peter De Jonghe Antoon Vandenberghe Danielle Pham-Dinh André Dautigny Jean-Jacques Martin Christine Van Broeckhoven |
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Affiliation: | (1) Department of Biochemistry, Laboratory of Neurogenetics, Born Bunge Foundation (BBS), University of Antwerp (UIA), Universiteitsplein 1, B-2610 Antwerpen, Belgium;(2) Laboratoire de Neurogénétique, Hôpital de l'Antiquaille and Faculté de Pharmacie, Université Claude Bernard, Lyon, France;(3) Equipe ATIPE, CNRS Unithé 1488, Institut des Neurosciences, Université de Paris, Paris, France;(4) Laboratory of Neuropathology, Born Bunge Foundation (BBS) and Department of Medicine, University of Antwerp (UIA), Antwerpen, Belgium |
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Abstract: | Charcot-Marie-Tooth type (CMT1) disease or hereditary motor and sensory neuropathy type I (HMSNI) is an autosomal dominant peripheral neuropathy. In most CMT1 families, the disease cosegregates with a 1.5-Mb duplication on chromosome 17p11.2 (CMT1A). A few patients have been found with mutations in the peripheral myelin protein 22 (PMP-22) gene located in the CMT1A region. In other families mutations have been identified in the major peripheral myelin protein po gene localized on chromosome Iq21-q23 (CMT1B). We performed a rapid mutation screening of the PMP-22 and P0 genes in non-duplicated CMT1 patients by single-strand conformation polymorphism analysis followed by direct polymerase chain reaction sequencing of genomic DNA. Six new single base changes in the P0 gene were observed: two missense mutations in, respectively, exons 2 and 3, two nonsense mutations in exon 4, and two silent mutations or polymorphisms in, respectively, exons 3 and 6. |
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