日本伴MPZ苏氨酸-124-蛋氨酸基因突变的遗传性感觉运动神经病家族  

Charcot-Marie-Tooth families in Japan with MPZ Thr124Met mutation

作　　者：Kurihara S. Adachi Y. Imai C. 高方 

机构地区：[1]Department of Neurology, Institute of Neurological Sciences, Tottori University, 36 1 Nishimachi, Yonago, Tottori 6838504, Japan Dr.

出　　处：《世界核心医学期刊文摘（神经病学分册）》2005年第2期44-44,共1页Digest of the World Core Medical Journals:Clinical Neurology

摘　　要：Background: The MPZ Thr124Met mutation is characterised by a late onset, pupil lary abnormality, deafness, normal or moderate decreased motor nerve conduction velocity, and axonal damage in sural nerve biopsy. Objective: To investigate the clinical manifestations of the axonal or demyelinating forms of the Japanese MP Z Thr124Met mutation originating in four different areas: Tottori, Nara, Aichi, and Ibaragi. Results: Genotyping with DNA microsatellite markers linked to the M PZ gene on chromosome 1q22 q23 showed shared allelic characteristics between 12 .65 cM and revealed a common haplotype in all Tottori families. Aichi and Ibarag i families shared parts of the haplotype around the MPZ gene. However, there was no consistency with a Nara family. Conclusions: The high frequency of this pecu liar genotype in the Tottori CMT population is presumably due to a founder effec t, but in Thr124 it might constitute a mutation hotspot in the MPZ gene.Background: The MPZ Thr124Met mutation is characterised by a late onset, pupil lary abnormality, deafness, normal or moderate decreased motor nerve conduction velocity, and axonal damage in sural nerve biopsy. Objective: To investigate the clinical manifestations of the axonal or demyelinating forms of the Japanese MP Z Thr124Met mutation originating in four different areas: Tottori, Nara, Aichi, and Ibaragi. Results: Genotyping with DNA microsatellite markers linked to the M PZ gene on chromosome 1q22 q23 showed shared allelic characteristics between 12 .65 cM and revealed a common haplotype in all Tottori families. Aichi and Ibarag i families shared parts of the haplotype around the MPZ gene. However, there was no consistency with a Nara family. Conclusions: The high frequency of this pecu liar genotype in the Tottori CMT population is presumably due to a founder effec t, but in Thr124 it might constitute a mutation hotspot in the MPZ gene.

关 键 词：MPZ 基因突变 轴突损伤 脱髓鞘 微卫星标记物 瞳孔异常 DNA 腓神经 相容性 突变研究 

分 类 号：R744[医药卫生—神经病学与精神病学]