Mutation analysis of neurofilament-light gene in Chinese Charcot-Marie-Tooth disease / 中华医学遗传学杂志

ABSTRACT

<p><b>OBJECTIVE</b>To study the characteristic of the mutation of neurofilament-light (NF-L) gene in Chinese Charcot-Marie-Tooth disease (CMT) patients.</p><p><b>METHODS</b>Mutation analysis of NF-L gene was made by use of polymerase chain reaction-single strand conformation polymorphsim combined with DNA direct sequencing in 32 CMT probands from the Hans of five provinces in China who had been diagnosed by clinical feature and electromyography and/or biopsy of sural nerve.</p><p><b>RESULTS</b>In 32 CMT probands, only one sporadic case was found to display variant banding pattern, and this case was confirmed as 1329C to T (Tyr443Tyr) single nucleotide polymorphism by sequencing.</p><p><b>CONCLUSION</b>Mutation of NF-L gene may be rare in Chinese CMT patients.</p>