常染色体

Conelusion:Missense mutation of Tyr486Asp in Exon 5 of UGT1A1 gene is the pathogenic factor of the CN Ⅱ case in the family and recessively inherited.

Tyr486Asp突变是本例CN—Ⅱ家系的致病性基因，该突变不影响UGT1A1基因启动子区苯巴比妥酸的应答元件，其遗传规律符合常染色体隐性遗传。

Missense mutation of Tyr486Asp in Exon 5 of UGT1A1 gene is the pathogenic factor of the CNⅡ case in the family and recessively inherited. The mutation has no influence on the response elements of phenibarbital in the promoter region.

Tyr486Asp突变是本例CN-Ⅱ家系的致病性基因，该突变不影响UGT1A1基因启动子区苯巴比妥酸的应答元件，其遗传规律符合常染色体隐性遗传。

Spinocerebellar ataxias are a group of autosomal dominant cerebellar degenerative disorders, which are characterized by clinical and genetic variability.

脊髓小脑性共济失调是一组常染色体显性的小脑退行性病，具有临床和遗传多样性。

Spinocerebellar ataxias are a clinically and genetically heterogeneous group of neurodegenerative disorders.

第一部分 SCA家系致病基因定位第一章一个新的SCA家系致病基因定位脊髓小脑型共济失调(spinocerebellar ataxias，SCA)是一种具有高度临床和遗传异质性的神经系统退行性疾病，多呈常染色体显性遗传。

Since the identification of the first gene responsible for spinocerebellar ataxia type 1 (SCA1) in 1993, an increasing number of genes and chromosomal loci have been characterized.

我们收集到一个来自中国湖南望城的常染色体显性遗传SCA家系，主要临床特点为晚发缓慢进展的小脑性共济失调，起病年龄在40-52岁，平均47.25±4.37岁，可伴有痉挛性斜颈，头部MRI表现为小脑萎缩，家系未观察到遗传早现现象。

Objective Machado-Joseph disease/Spinocerebellar ataxia type 3 (SCA3) is an autosomal dominant neurodegenerative disorder caused by an expansion of polyglutamine tract near the C-terminus of the MJD1 gene product, ataxin-3. The precise mechanism of the MJD/SCA3 pathogenesis remains unclear.

目的 马查多-约瑟夫病/脊髓小脑共济失调3型，是由 MJD1基因产物ataxin-3的C-末端的多聚谷氨酰胺发生重复扩展突变而引起的一种常染色体显性遗传的神经退行性疾病，目前它的发病机制还不清楚。

Multiple familial trichoepithelioma is inherited in autosomal dominant manner with high penetrance. The involvement of MFT in woman is more than that in man. Multiple lesions commonly present small tumors located predominantly in the nalolabial folds symmetrically. Most of the tumors are dome-shaped, skin-colored, firm

总之，毛发上皮瘤是一种高度外显的常染色体显性遗传病，女性发病多于男性，以沿鼻唇沟对称分布的乳白色半球形或圆锥形丘疹为皮损特征，无恶化趋势，组织病理为角质囊肿与肿瘤岛，同一家系中不同的患者表现度不同

The researchers conclude that the absence of functional Tyk2 caused the defects in the multiple cytokine signals that were observed in the patient and identify human Tyk2 mutation as a unique type of primary immunodeficiency with characteristics similar to autosomal recessive HIES.

研究人员总结到，Tyk2功能缺失会导致多种细胞因子信号通路发生缺陷，就像在人类HIES患者中观察到的一样；人类Tyk2突变作为原发性免疫缺陷的一种类型，特征与常染色体隐性HIES相似。

Objective To establish the technology of multiple nest fluorescence single cell PCR, for preimplantation genetic diagnosis for autosomal dominant polycystic kidney disease.

目的 建立单细胞的多重巢式荧光PCR技术，为开展常染色体显性多囊肾疾病行胚胎植入前遗传学诊断提供依据。

It is also enriched in segmental duplications, ranking third in density among the autosomes.

它同样富于分段复制区域，在常染色体中排第三。

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