常染色体

Idiopathic torsion dystonia and Huntington's disease represent autosomal dominant inherited hyperkinetic disorders that vary considerably with regard to pathologic mechanisms and clinical penetrance.

特发性扭转张力障碍和 huntington ' s 病代表了常染色体显性遗传的运动机能亢进疾病，由于和临床外显率不同而有很大差别。

Background Familial benign chronic pemphigus or Hailey-Hailey disease (HHD; OMIM 169600) is a rare autosomal dominant cutaneous disorder characterized by recurrent vesicles and erosions mainly in intertriginous areas.

研究背景：家族性慢性良性天疱疮，又称Hailey-Hailey病(HHD，OMIM 169600)是一种罕见的常染色体显性遗传性皮肤病。

Genetic experiments showed that the inheritance of the melanic character followed the Mendalian imcomplete dominance law. A single pair of genes regulated the melanic character.

遗传实验结果表明，甜菜夜蛾突变品系和正常品系的蛹体色遗传模式遵循孟德尔的不完全显性遗传规律，黑色性状由位于常染色体上的单基因控制。

The chromosome No.1 is Very unstable, and there are three types:(1)M,M(With a double metacentric chromosomes),(2)M, T, T(With single metacentric chromosome).(3)T,T,T,T.

发现第一对常染色体极不稳定，存在(1)M，M；(2)M，T，T；(3)T，T，T，T三种多态类型。

Myotonic dystrophy follows an autosomal dominant inheritance pattern, which means that on average half of the children of an affected person are themselves affected.

强直性肌营养不良如下一常染色体显性遗传模式，这意味着，平均有一半的儿童一个受影响的人本身的影响。

Myotonic dystrophy follows an autosomal dominant pattern of inheritance.

强直性肌营养不良如下一个常染色体显性遗传模式的继承权。

So far transgenic knockout models of AQP1, AQP3, AQP4 and AQP5, and a knock-in model introducing a point mutation (T126M) that causes autosomal recessive nephrogenic diabetes insipidus in human have been successfully established. Significant progresses have been made in characterizing the physiological functions of these AQPs by systematic mouse phenotype studies.

目前AQP1、3、4、5基因敲除和AQP2基因点突变的基因敲入小鼠模型（模拟人类常染色体隐性遗传尿崩症）已成功建立并广泛用于表型研究，在AQP水通道蛋白生理功能方面获得许多重要进展。

Neither was oculopharyngeal muscular dystrophy, a late onset autosomal dominant condition characterised by a combination of ptosis, ophthalmoplegia and dysphagia.

眼咽型肌营养不良在这里也不考虑，因为本病是一种迟发型常染色体显性遗传病，特征的表现为眼睑下垂，眼肌麻痹和吞咽困难的三联征。

Amongst these, 26 had symptoms compatible with spinal cord involvement. However, two cases with primary progressive pyramidal paraparesis were excluded because after the diagnostic work-up they were found out to have other possible underlying causes (one had constrictive meningeal thickening because of a very remote subarachnoid haemorrhage, and the other had positive family history suggesting an autosomal dominant disorder).

其中，26例有脊髓受累症状，但其中有2例表现为原发进展性痉挛性截瘫的患者，其症状可以用白塞病以外的其他原因来解释，因此，这2例患者被排除在本研究之外（1例患者因蛛网膜下腔出血而出现脑膜增厚，另1例患者因有阳性家族史而怀疑为常染色体显性遗传性疾病--遗传性痉挛性截瘫）。

Multiple familial trichoepithelioma is a benign skin tumor related to the pilosebaceous apparatus and inherited in autosomal dominant manner. Attentions have been focused on the mapping and mutation of the disease gene. But the clinical features of MFT are not clearly analyzed in Chinese.

多发性家族性毛发上皮瘤是一种皮肤附属器的良性肿瘤，是常染色体显性遗传性疾病，目前的研究集中在其致病基因的定位及突变上，但对该病的临床分析不够透彻。

It has been put forward that there exists single Ball point and double Ball points on the symmetrical connecting-rod curves of equilateral mechanisms.

从鲍尔点的形成原理出发，分析对称连杆曲线上鲍尔点的产生条件，提出等边机构的对称连杆曲线上有单鲍尔点和双鲍尔点。

The factory affiliated to the Group primarily manufactures multiple-purpose pincers, baking kits, knives, scissors, kitchenware, gardening tools and beauty care kits as well as other hardware tools, the annual production value of which reaches US$ 30 million dollars.

集团所属工厂主要生产多用钳、烤具、刀具、剪刀、厨具、花园工具、美容套等五金产品，年生产总值3000万美元，产品价廉物美、选料上乘、质量保证，深受国内外客户的青睐