目的探讨合并2型糖尿病的腓骨肌萎缩症(CMT)一家系临床特点及可能的分子生物学发生机制。方法对40名家系成员进行详细家系调查、临床及辅助检查,并运用实时荧光PCR、普通PCR及基因测序等方法检测周围神经髓鞘蛋白22(peripheral myelin p...目的探讨合并2型糖尿病的腓骨肌萎缩症(CMT)一家系临床特点及可能的分子生物学发生机制。方法对40名家系成员进行详细家系调查、临床及辅助检查,并运用实时荧光PCR、普通PCR及基因测序等方法检测周围神经髓鞘蛋白22(peripheral myelin protein 22,PMP22)和髓鞘糖蛋白零(myelin protein zero,MPZ)基因有无突变。结果家系成员中5例经临床诊断为腓骨肌萎缩症1型(CMT1),其中4例伴2型糖尿病。该家系成员未发现PMP22基因大片段扩增突变及点突变;仅发现1例MPZ基因5820位点A→G多态性现象。结论 PMP22和MPZ基因突变不是本组合并2型糖尿病CMT家系的致病基因,需要进一步研究以明确该家系基因遗传规律。展开更多
We compute the thermodynamic and the kinetic properties for the reaction: HCOCN→HCH+CO using the statistical theory and the transition-state theory.The equi- librium constants and the rate coefficients of this reacti...We compute the thermodynamic and the kinetic properties for the reaction: HCOCN→HCH+CO using the statistical theory and the transition-state theory.The equi- librium constants and the rate coefficients of this reaction are also reported here,and the half lives of formyl cyanide at different temperatures are first estimated in this work.展开更多
腓骨肌萎缩症(charcot marie tooth disease,CMT)是一组高发病率的周围神经系统的单基因遗传病,具有临床和遗传异质性。可分为CMT1型,CMT2型,CMTX型和CMT4型。近些年随着分子遗传学和分子生物学的快速发展,已经发现了很多CMT的相关致病...腓骨肌萎缩症(charcot marie tooth disease,CMT)是一组高发病率的周围神经系统的单基因遗传病,具有临床和遗传异质性。可分为CMT1型,CMT2型,CMTX型和CMT4型。近些年随着分子遗传学和分子生物学的快速发展,已经发现了很多CMT的相关致病基因。主要包括外周髓鞘蛋白22基因、髓鞘蛋白零蛋白基因、间隙连接蛋白-32基因、驱动蛋白1B基因、Ras相关蛋白7基因、小分子热休克蛋白27基因等。本文就CMT相关致病基因研究现状作一综述。展开更多
Optical absorption spectra, ZFS, ERP parameters and susceptibility of Ni2+ ions in Ni(mpz)4I2 crystal have calculated, using a complete condguration mixing uinfied crystal-field theory. All results obtained consist wi...Optical absorption spectra, ZFS, ERP parameters and susceptibility of Ni2+ ions in Ni(mpz)4I2 crystal have calculated, using a complete condguration mixing uinfied crystal-field theory. All results obtained consist with the experimental data. A complete and reasonable explanation for the optical and magnetic properties of Ni(mpz)4I2 compound has been obtained on the analysis of the results obtained in this paper.展开更多
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. Objecti...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.展开更多
An in frame, lys236 deletion in the intracytoplasmic domain of myelin protein zero (MPZ) has recently been designated as a mutation possibly associated with C harcot-Marie-Toothdisease (CMT) but requiring further docu...An in frame, lys236 deletion in the intracytoplasmic domain of myelin protein zero (MPZ) has recently been designated as a mutation possibly associated with C harcot-Marie-Toothdisease (CMT) but requiring further documentation. In this r eport we present a detailed clinical, electrophysiological, and genotype correla tion in three generations of a family with the MPZ lys236del mutation and provid e further evidence that this mutation is associated with CMT. The MPZ lys236del mutationis associated with an autosomal dominant, adult onset CMT phenotype, wit h variable penetrance ranging from an asymptomatic state to foot deformities, pe dal numbness, and muscle cramps. Nerve conduction studies disclose intermediate range, somewhat non-uniform slowing of motor nerve conduction, which is accentu ated in forelimb rather than distal nerve segments. Based on the contrasting fin ding of entire lynormal conduction velocities (CV) in a genetically affected 15 year old in this family, it remains to be established whether CV slowing with th is mutation is progressive in life, a pattern that would contrast with CMT1a (PM P22 gene duplication).展开更多
文摘目的探讨合并2型糖尿病的腓骨肌萎缩症(CMT)一家系临床特点及可能的分子生物学发生机制。方法对40名家系成员进行详细家系调查、临床及辅助检查,并运用实时荧光PCR、普通PCR及基因测序等方法检测周围神经髓鞘蛋白22(peripheral myelin protein 22,PMP22)和髓鞘糖蛋白零(myelin protein zero,MPZ)基因有无突变。结果家系成员中5例经临床诊断为腓骨肌萎缩症1型(CMT1),其中4例伴2型糖尿病。该家系成员未发现PMP22基因大片段扩增突变及点突变;仅发现1例MPZ基因5820位点A→G多态性现象。结论 PMP22和MPZ基因突变不是本组合并2型糖尿病CMT家系的致病基因,需要进一步研究以明确该家系基因遗传规律。
文摘We compute the thermodynamic and the kinetic properties for the reaction: HCOCN→HCH+CO using the statistical theory and the transition-state theory.The equi- librium constants and the rate coefficients of this reaction are also reported here,and the half lives of formyl cyanide at different temperatures are first estimated in this work.
文摘腓骨肌萎缩症(charcot marie tooth disease,CMT)是一组高发病率的周围神经系统的单基因遗传病,具有临床和遗传异质性。可分为CMT1型,CMT2型,CMTX型和CMT4型。近些年随着分子遗传学和分子生物学的快速发展,已经发现了很多CMT的相关致病基因。主要包括外周髓鞘蛋白22基因、髓鞘蛋白零蛋白基因、间隙连接蛋白-32基因、驱动蛋白1B基因、Ras相关蛋白7基因、小分子热休克蛋白27基因等。本文就CMT相关致病基因研究现状作一综述。
文摘Optical absorption spectra, ZFS, ERP parameters and susceptibility of Ni2+ ions in Ni(mpz)4I2 crystal have calculated, using a complete condguration mixing uinfied crystal-field theory. All results obtained consist with the experimental data. A complete and reasonable explanation for the optical and magnetic properties of Ni(mpz)4I2 compound has been obtained on the analysis of the results obtained in this paper.
文摘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.
文摘An in frame, lys236 deletion in the intracytoplasmic domain of myelin protein zero (MPZ) has recently been designated as a mutation possibly associated with C harcot-Marie-Toothdisease (CMT) but requiring further documentation. In this r eport we present a detailed clinical, electrophysiological, and genotype correla tion in three generations of a family with the MPZ lys236del mutation and provid e further evidence that this mutation is associated with CMT. The MPZ lys236del mutationis associated with an autosomal dominant, adult onset CMT phenotype, wit h variable penetrance ranging from an asymptomatic state to foot deformities, pe dal numbness, and muscle cramps. Nerve conduction studies disclose intermediate range, somewhat non-uniform slowing of motor nerve conduction, which is accentu ated in forelimb rather than distal nerve segments. Based on the contrasting fin ding of entire lynormal conduction velocities (CV) in a genetically affected 15 year old in this family, it remains to be established whether CV slowing with th is mutation is progressive in life, a pattern that would contrast with CMT1a (PM P22 gene duplication).
