常染色体

Autosomal dominant inherited; epilepsy; tremor; dyssynergia cerebellaris myoclonica; simulate linkage analysis

常染色体显性遗传；癫痫；震颤；肌阵挛小脑协调障碍；模拟连锁分析

ABSTRACT Pachyonychia congenita is an autosomal dominant genodermatosis characterized by ectodermal dysplasias, of which the hypertrop...

先天性厚甲症(Pachyonychia congenita，PC)系外胚叶缺陷病，是一种常染色体显性遗传性疾病。

Subcommittee on Motor Neuron Diseases／Amyotrophic Lateral Sclerosis of the W orld Federation of Neurology Research Group on Neuromuscu lar Diserses and the E1 Escorial"Clinical lim its of am yotrophic lateral sclerosis"workshop cont ributors.

根据约10 的患者为FALS，主要为常染色体显性，那么中国应当有6000 FALs患者。尽管如此大的患者数量，但I前为止，中国尚未见一个FALS位点报道，仅发现1例SOD1突变n。。，提示中国ALS具有与西方不同的发病机制。

The goals of the Drosophila Genome Center are to finish the sequence of the euchromatic genome of Drosophila melanogaster to high quality, and to generate and maintain biological annotations of this sequence.

柏克莱果蝇基因组计画：本中心的目的在於完整定序黄果蝇常染色体上的基因，并进而对这些序列进行分析，以找出相关的基因功能。

The goals of the Drosophila Genome Center are to finish the sequence of the euchromatic genome of Drosophila melanogaster to high quality, and to generate and maintain biological annotations of this sequence.

柏克莱果蝇基因组计画的目的在於把黑腹果蝇常染色体上的基因组序列完善到高品质，以创建并维护该序列的生物学注解。

The goals of the Drosophila Genome Center are to finish the sequence of the euchromatic genome of Drosophila melanogaster to high quality, and to generate and maintain biological annotations of this sequence.

伯克利果蝇基因组工程：果蝇基因组中心的任务是完成黑腹果蝇常染色体基因组的高质量测序工作，然后编译和修改这一序列的生物学注解。

Berkeley Drosophila Genome Project. The goals of the Drosophila Genome Center are to finish the sequence of the euchromatic genome of Drosophila melanogaster to high quality, and to generate and maintain biological annotations of this sequence.

柏克利果蝇基因组计划的目的在于把黑腹果蝇常染色体上的基因组序列完善到高质量，以创建并维护该序列的生物学注解。

Hepatolenticular Degeneration , also called Wilson's Disease is an autosomal recessive inherited disease, which mainly affects children and adolescents.

肝豆状核变性（Hepatolenticular Degeneration，HLD）又称Wilson's病，是一种好发于青少年的常染色体隐性遗传病。

Waardenburg syndrome is a dominantly inherited auditory-pigmentary syndromes, manifested by congenital sensoryneural hearing loss, hypopigmented skin and hair, hypoisochromia or heterochromia.

Waardenburg综合征是一种常染色体显性遗传性听觉—色素障碍综合征，主要表现为先天性感音神经性耳聋，皮肤毛发色素脱失，面部发育畸形，在先天性深度感音神经性耳聋中占2％以上。Waardenburg综合征表现度变异非常大，临床上根据有无内眦外移将Waardenburg综合征分为两型：Waardenburg综合征Ⅰ型以内眦外移而区别于Waardenburg综合征Ⅱ型。

BACKGROUND: Retinitis pigmentosa is a group of commonest genetic blindness-inducing eyeground diseases, which have relative great heterogenicity in both heredity and phenotype. Pierce et al discovered a new retinal photoreceptor cell specific gene-RP1 in 1999, and also found in their following research that the mutation of this gene can induce autosomal dominant RP .

背景：视网膜色素变性(retinitis pigmentosa，RP)是一组最常见的遗传性致盲眼底病，在遗传和表型上均具有较大的异质性。1999年Pierce等发现了一个新的视网膜感光细胞特异基因--RP1，之后的研究发现该基因的突变可导致常染色体显性遗传RP(autosomal dominant RP，adRP)。

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