Identification of novel sequence variants in the neurofilament‐light gene in a Japanese population: analysis of Charcot‐Marie‐Tooth disease patients and normal individuals
Identification of novel sequence variants in the neurofilament‐light gene in a Japanese population: analysis of Charcot‐Marie‐Tooth disease patients and normal individuals
复制标题
日本人群神经丝轻基因中新序列变异的鉴定：夏科-玛丽-图思病患者和正常个体的分析
DOI：
10.1046/j.1529-8027.2002.02028.x
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发表时间：
2002
影响因子：
3.8
通讯作者：
G. Sobue
中科院分区：
文献类型：
--
作者：
T. Yoshihara;Masahiko Yamamoto;N. Hattori;K. Misu;K. Mori;H. Koike;G. Sobue
对12 4例无基因突变的日本夏科-玛丽-图思病患者和2 48名正常日本人神经丝-光(NFL/NF-L)基因的 突变进行了检测。用琼脂糖凝胶电泳法检测碱基错配，结合DNA测序，鉴定了核因子-L基因的8个新的序列变异。在这些序列变异中，发现5个变异，其中包括3个单核苷酸多态(SNPs)，在CMT表型患者中还发现3个错义突变(Pro22Thr、Asn97Ser和Ala148Val)。核因子-L基因中的变异等位基因可能影响CMT表型的发育过程，也可能导致CMT表型。
Abstract 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.