遗传性

Spinocerebellar degeneration ; Dystonia ; Spastic paraplegia ; hereditary ; Genes ; dominant ; Chromosomes ; human

脊髓小脑变性；张力障碍；痉挛性截瘫；遗传性；基因；显性；染色体；人

To investigate the gene mutation of clinical and neuroelectrophysiological characteristics in Machado-Joseph disease. The gene mutation was detected in 45 patients diagnosed as spinocerebellar ataxia and 30 "healthy relatives". Brain stem evoked potentials, visual evoked potentials and motor conduction velocity and sensory conduction velocity were performed on MJD.

为了解Machado-Joseph病基因突变及临床的神经电生理特点，对16个诊断为遗传性小脑性共济失调家系的45例病人及30例家系的&正常&人作MJD基因突变分析，检出MJD基因的病人行肢体运动及感觉神经传导速度、脑干诱发电位，视觉诱发电位的检查。

Hereditary spinocerebellar ataxia Trinucleotide repeat Gene diagnosis

遗传性脊髓小脑型共济失调；三核苷酸重复；基因诊断

The classification was based on respiratory symptoms, spirometric results, atopy, and fraction of exhaled nitric oxide values and response to inhaled beta(2)-agonists.

分类依据包括呼吸道症状、肺活量测定结果、遗传性过敏症以及呼出气一氧化氮的浓度值和对β（2）受体激动剂的反应。

Who suggested that the capacity to produce glycerol and succinic acid is a hereditary characteristic of the genus Saccharomyces.

1995，建议能力生产丙三醇和 2是类酵母菌的一个遗传性特征。

Methods 4 cases of HNPP were diagnosed by sural nerve biopsy.Electromyography was recorded in clinical affected or unaffected nerve.

目的 从临床、电生理及病理方面对遗传性压迫易感性神经病进行探讨，以提高对本病的认识。

Objective The GJB2, GJB6 and GJB3 genes are related to hereditary deafness and keratoderma. To investigate the genetic causes, we recruited a Chinese family and screened the proband with syndromic deafness and palmoplantar keratoderma for mutations in these three genes and analyzed the phenotype and hereditary traits.

目的 GJB2、GJB6、 GJB3基因与遗传性耳聋及角化病有关，以GJB2、 GJB6、 GJB3基因为候选基因，研究1例伴有掌跖角化病的综合征型耳聋先证者的分子病因，探讨其表型及遗传特征。

Objective: To investigate the imaging manifestations and diagnosis of hepatic hereditary hemorrhagic telangiectasia.

目的：探讨肝脏遗传性毛细血管扩张症的影像学特征及临床诊断。

Undoubtedly, because they were both born with hereditary hemorrhagic telangiectasia.

毫无疑问他们有遗传性出血性毛细血管扩张症

Beta-thalassemia major is a serious hereditary hemolytic anemia which does great harm to human being.It is a monogenic disease characterised by a reduced synthesis of beta-globin chains,which dues to the Doint mutation or deletion of beta-globin gene and its control region.It not only decreases the hemoglobin level,but breaks the balance of alpha/beta synthesis ratio.The major cellular pathogenetic mechanisms in beta thalassemia are based primarily on the deleterious effects produced by the accumulation of the excess alpha globin chain.These excess alpha-globin chains cannot form stable tetrameric structure and deposit in erythroid cells.They cause large ineffective erythropoiesis on their own,accelerate red cells destruction,and lead to hemolysis.

地中海贫血是一种对人类健康危害严重的遗传性溶血性贫血病，是因β-珠蛋白基因及其调控序列的点突变或缺失致使β-珠蛋白肽链合成减少或完全停止，这不仅使患者血红蛋白水平降低，而且使原来在数量上与之持平的α-珠蛋白肽链相对过剩，这些相对过剩的游离α-珠蛋白肽链并不能形成稳定的四聚体，它们沉积在红细胞中导致了大量无效红细胞生成和红细胞寿命缩短，引起了严重的溶血性贫血。

However, as the name（read－only memory）implies, CD disks cannot be written onorchanged in any way.

然而，正如其名字所指出的那样，CD盘不能写，也不能用任何方式改变其内容。

Galvanizes steel pallet is mainly export which suits standard packing of European Union, the North America. galvanizes steel pallet is suitable to heavy rack. Pallet surface can design plate type, corrugated and the gap form, satisfies the different requirements.

镀锌钢托盘多用于出口，替代木托盘，免薰蒸，符合欧盟、北美各国对出口货物包装材料的法令要求；喷涂钢托盘适用于重载上货架之用，托盘表面根据需要制作成平板状、波纹状及间隔形式，满足不同的使用要求。