Journal
JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM
Volume 7, Issue 4, Pages 221-224Publisher
WOODLAND PUBLICATIONS, INC
DOI: 10.1046/j.1529-8027.2002.02028.x
Keywords
neurofilament-L; mutation; single nucleotide polymorphism; non-isotopic RNase cleavage assay; Charcot-Marie-Tooth disease; Japanese
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Mutations of the neurofilament-light (NEFL/NF-L) gene were examined in 124 unrelated Japanese patients with Charcot-Marie-Tooth disease (CMT) without known gene mutations, and 248 normal Japanese individuals. A new method, which can detect basepair mismatches with RNase cleavage on agarose gel electrophoresis, coupled with DNA sequencing, identified 8 novel sequence variations in the NF-L gene. In these sequence variants, 5 variants were polymorphisms, including 3 single nucleotide polymorphisms (SNPs), and 3 other missense mutations (Pro22Thr, Asn97Ser and Ala148Val) were found in the patients with CMT phenotype. The variant alleles in the NF-L gene could influence the developing process of CMT phenotype and also might cause CMT phenotype.
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