染色体基因

Germ-line mutations in the genes hTERT and hTR, encoding telomerase reverse transcriptase and telomerase RNA, respectively, cause autosomal dominant dyskeratosis congenita, a rare hereditary disorder associated with premature death from aplastic anemia and pulmonary fibrosis.

端粒酶逆转录酶的编码基因hTERT和端粒酶RNA的编码基因hTR发生种系突变时，可引起常染色体显性先天性角化不良，这是一种罕见的遗传性疾病，它与再生障碍性贫血和肺纤维变性所致的早产儿死亡具有相关性。

Methods Systematic observations of clinical manifestations,hematopoietic function,chromosomal aberrations,immunologic neurological,endocrinological,reproductive functions,eye examination,asssay of HPRT gene mutation and detection of oncogenes were performed in the past six years.

持续6年对患者进行临床表现、造血功能、染色体畸变、免疫功能、神经系统、内分泌功能、生殖功能及眼晶体等检查和HPRT基因突变及某些癌基因检测。

Department of Pathology, Medical College of Shantou University, Shantou,515041,Guangdong,ChinaAbstract BACKGROUND ＆ AIM: To investigate the expression of early growth response gene-1 (Egr-1 gene) and PTEN in esophageal epitheliosis and carcinogenesis, and the relation with the development of esophageal carcinoma.

背景与目的：研究食管粘膜上皮癌变过程早期生长反应基因(Early growth response gene-1， Egr-1 gene)和与张力蛋白及辅助蛋白同源、第10号染色体丢失的磷酸酶基因(phosphatase and tensin homology deleted on chromosome ten，PTEN)蛋白的表达，并探讨其与食管癌发生的关系。

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 strongest evidence for linkage in 147 families with late-onset PD was on chromosome 17 near the tau gene -- previously shown to be involved in other neurodegenerative diseases including frontotemporal dementia with parkinsonism and progressive supranuclear palsy.

147个患有迟发型帕金森氏症的家庭在遗传研究中被发现，该病与17号染色体上的tau基因有关联。以前tau基因被认为与其它的神经变性疾病有关，如伴有震颤麻痹的额颞型痴呆以及进行性核上性麻痹有关。

The data byχ~2 were consistent with the separation ratio as 1: 2: 1 χ~2=4.028＜χ_(0.05,2~2=5.99, which further conformed that glandless character was controlled by a incomplete dominance gene, Gl_2~e. 2. SSR markers every about 5cM were selected in the chromosome 12 of our lab genetic linkage map to screen the parent plants. The markers with the polymorphism were used to amplify the DNA of 210 F_2 segregating plants selected randomly and recorded the marker genotypes. After eliminating the segregation distortion markers byχ~2 test, other SSR markers were detected by linkage analysis.

二、参照本实验室海陆种间遗传连锁图谱第12染色体上的SSR标记，平均每5cM左右选择一个标记进行亲本多态性的筛选，筛选出具有多态性的标记位点进一步扩增随机抽取的210个F_2群体单株的DNA，鉴定每个个体的标记基因型。X~2检测剔除偏分离标记后进行连锁分析，发现Gl_2~e基因位于CIR362与NAU5079之间，进一步参考图谱上位于CIR362与NAU5079之间的标记加密图谱，最终将其定位在CIR362和NAU2251b、NAU3860b、STV033之间。

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)。

Homozygous - When the two alleles of a gene on the two sets of chromosomes of an individual are identical.

纯 -当两个等位基因的基因对两套染色体个人都是相同的。

Humans,like most vertebrates,have 39 HOX genes organized into four clusters.

人类含有39个HOX基因，形成4个基因簇，分布在4条染色体上。

Marie Unna hereditary hypotrichosis is an autosomal dominant hair loss disorder,with the affected individuals usually born with little or no hair,and coarse twisted hair growth on the scalp in early childhood.

国际上将MUHH基因座定位于人染色体8p21区域，但对此区域中与毛发周期密切相关的Hairless基因编码区进行突变筛查时都没有发现任何致病性突变。

She gently rebuff ed him, but agreed that they could be friends

她婉言拒绝了，但同意作为朋友相处。

If in the penal farm, you were sure to be criticized.

要是在劳改农场，你等着挨绳子吧！