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Identification of novel sequence variants in the neurofilament‐light gene in a Japanese population: analysis of Charcot‐Marie‐Tooth disease patients and normal individuals
Author(s) -
Yoshihara Tsuyoshi,
Yamamoto Masahiko,
Hattori Naoki,
Misu Kenichiro,
Mori Keiko,
Koike Haruki,
Sobue Gen
Publication year - 2002
Publication title -
journal of the peripheral nervous system
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1
H-Index - 67
eISSN - 1529-8027
pISSN - 1085-9489
DOI - 10.1046/j.1529-8027.2002.02028.x
Subject(s) - genetics , gene , missense mutation , biology , phenotype , single nucleotide polymorphism , allele , dna sequencing , microbiology and biotechnology , genotype
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.