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autosomal
相关语句
  常染色体
    Development of System for Mutation Detection of Autosomal Dominant Polycystic Kidney Disease PKD1 Gene and Its Application in Hans
    汉族人常染色体显性遗传性多囊肾病1型致病基因突变检测体系的建立及应用
短句来源
    Clinical and Basic Research on Autosomal Dominant Polycystic Kidney Disease Before and after Renal Transplantation
    肾移植前后常染色体显性遗传多囊肾的临床与基础研究
短句来源
    Genetic Heterogeneity and Gene Diagnosis of Autosomal Dominant Polycystic Kidney Disease Using Microsatellite DNA and Single Nucleotide Polymorphisms
    应用微卫星DNA和单核苷酸多态性对常染色体显性多囊肾病进行遗传异质性研究及基因诊断
短句来源
    Comparative Proteomic Study of the Pathogenesis of Autosomal Dominant Polycystic Kidney Disease
    常染色体显性多囊肾病发病机制的比较蛋白质组学研究
短句来源
    The Effect of the Cysteine-rich 61 on the Pathogenesis of Autosomal Dominant Polycystin Kidney Disease
    富含半胱氨酸蛋白61在常染色体显性多囊肾病发病中的作用研究
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  “autosomal”译为未确定词的双语例句
    Effects of HMG-CoA Reductase Inhibitor on Proliferation and Extracellular Matrix Secretion in Cyst-Lining Epithelial Cells and Fibroblasts of Autosomal Dominant Polycystic Kidney Disease
    HMG-CoA还原酶抑制剂对多囊肾病囊肿衬里上皮细胞及成纤维细胞增殖和细胞外基质分泌的影响
短句来源
    Autosomal Dominant Polycystic Kidney Disease and Transplantation:8 cases report
    成人型多囊肾与肾移植(附8例报告)
短句来源
    The observation of 22 patients with autosomal dominant polycystic kidney disease under laparoscopic procedures
    腹腔镜手术治疗成人型多囊肾22例疗效观察
短句来源
    Clinical significance of gross hematuria in autosomal dominant polycystic kidney patients
    成人多囊肾病肉眼血尿的临床意义
短句来源
    Methods: 114 individuals from 94 autosomal dominant polycystic kidney disease (ADPKD) families and 50 healthy volunteers were enrolled in the study.
    方法:收集本院门诊和住院病人中确诊为ADPKD病人家系94个,包括病人114例,健康志愿者50名,提取外周血白细胞DNA;
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  autosomal
Inherited LQTS is represented by the autosomal dominant Romano-ward syndrome (RWS), which is not accompanied by congenital deafness, and the autosomal recessive Jervell and Lange-Nielsen syndrome (JLNS), which is accompanied by congenital deafness.
      
Missense mutations in human presenilin 1 gene (hPS1) cause an autosomal dominant, early onset form of Alzheimer's disease (AD).
      
Genetic Peculiarity of the Yakut Population as Inferred from Autosomal Loci
      
The autosomal gene pool of Yakuts was analyzed with a panel of polymorphic Alu insertions.
      
The North Eurasian population (41 local populations of 21 ethnic groups) was tested for genetic diversity with numerous genetic markers, including Y-chromosomal haplotypes, autosomal microsatellites, and polymorphic Alu insertions.
      
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In 40 infertile males with azoospermia, chromosomal preparations made from peripheral blood lymphocytes were analyzed by conventional method and additionally by high resolution chromosome G-banding and silver-staining (NOR-Ag) in some cases. The result showed (1) sex-chromosome abnormalities in 9 cases (22.5%),including 45, XY 1 case, 47,XXY 7 cases and 46.XY/47.XXY 1 case; (2) autosomal deletion in 3 (7.5%); (3) variant chromosome in 19 (47.5%); and (4) normal karyotype in 9 (22,5%).

本文报告自1984年5月~1985年10月对40例无精症患者采取外周血淋巴细胞作体外培养,染色体制片,作GTG、CBG显带镜下及照相核型分析,必要时加高分辨G带(HRC)或银染(NOR-AS)分析,并作了C带异态性研究和家系调查,结果如下:(1)数目异常9例(22.5%);(2)结构异常3例(7.5%):(3)异态性19例(47.5%);(4)核型正常无异态性者9例(22.5%)。部分病例测宠血HCG、LH、FSH、T,血、精液锌含量,和睾丸电镜检查及输精管X线造影。

Among the genetic counseling of male infertility, more cases of chromosomal abnormality are Kliniefelter syndrome (47, XXY and 46, XY/47, XXY), but some specialkaryotypes are found:①Klinefelter syndrome of excessive X chromosome and mosaicism: 46,XY/48, XXXY;46, XY/ 47, XXY/48, XXYY; 48, XXXY.②abnormal structure of Ychromosome and Y-autosomal translocation:45,X/46, X, del (Yq); 45, X, t(Yq; 13).③autosomal balanced translocation:Robertsonian translocation 45, XY, t(13; 21);45, XY, t(13;14); 46,XY,...

Among the genetic counseling of male infertility, more cases of chromosomal abnormality are Kliniefelter syndrome (47, XXY and 46, XY/47, XXY), but some specialkaryotypes are found:①Klinefelter syndrome of excessive X chromosome and mosaicism: 46,XY/48, XXXY;46, XY/ 47, XXY/48, XXYY; 48, XXXY.②abnormal structure of Ychromosome and Y-autosomal translocation:45,X/46, X, del (Yq); 45, X, t(Yq; 13).③autosomal balanced translocation:Robertsonian translocation 45, XY, t(13; 21);45, XY, t(13;14); 46,XY, t(1; 8);46, XY, t(15; 19);46, XY, t(11;19); 46, XY, t(1; 5), inv (12). This study showed the relations between abnormal chromosome and male infertility.

在男性不育症的遗传咨询门诊中,发现的染色体异常绝大多数为典型的47,XXYKlinefelter综合征,但我们也发现一些较为特殊的核型,其中多X及多X嵌合体的3例,Y染色体结构异常及Y染色体与常染色体易位2例;常染色体之间的平衡易位6例。本文讨论了染色体的异常与男性不育症之间的可能关系。

For the purpose of investigating modification of α chains of type Ⅳ collagen in patients with Alport′s syndrome, the renal and epidermal distribution of α1α6 (Ⅳ) and type Ⅰ, Ⅲ, Ⅴ and Ⅵ collagen was observed by indirect immunofluorescence and immune electron microscopy. The results showed that abnormal distribution of α3α6 (Ⅳ) existed in 63% of the patients. Two types of abnormality were found directly related to the forms of transmission of the disease:(1) the renal and epidermal distribution of α3α6 (Ⅳ)...

For the purpose of investigating modification of α chains of type Ⅳ collagen in patients with Alport′s syndrome, the renal and epidermal distribution of α1α6 (Ⅳ) and type Ⅰ, Ⅲ, Ⅴ and Ⅵ collagen was observed by indirect immunofluorescence and immune electron microscopy. The results showed that abnormal distribution of α3α6 (Ⅳ) existed in 63% of the patients. Two types of abnormality were found directly related to the forms of transmission of the disease:(1) the renal and epidermal distribution of α3α6 (Ⅳ) completely disappeared in male cases or discontinuously and segmentally presented in female cases of Xlinked Alport′s syndrome; (2) α3α5 (Ⅳ) were negative in glomerular basement membrane and α5α6 (Ⅳ) were positive in the nonglomerular and epidermal basement menbrane where α3α4 (Ⅳ) were negative in patients with autosomal recessive Alport′s syndrome. These results suggest that abnormal distribution of α chains of type Ⅳ collagen be a diagnostic marker of Alport′s syndrome and observation of α5α6 (Ⅳ) distribution by epidermal biopsy be useful for recognition of patients and carriers of Xlinked Alport′s syndrome.

为探讨Alport综合征时Ⅳ型胶原α链的分布改变,应用间接免疫荧光和免疫电镜的方法,观察了Ⅳ型胶原α1~α6(Ⅳ)和Ⅰ、Ⅲ、Ⅴ和Ⅵ型胶原在肾(103例)和皮肤(40例)组织中的分布。结果:63%的病例存在α3~α6(Ⅳ)的分布异常;两种异常类型直接与遗传方式有关:在X染色体连锁显性遗传时,男性肾和皮肤组织中α3~α6(Ⅳ)均消失,女性则呈不连续的节段性分布;在常染色体隐性遗传时,肾小球基底膜(GBM)中α3~α5(Ⅳ)均消失,而GBM外肾组织基膜中α3~α4(Ⅳ)消失,α5~α6(Ⅳ)的分布完全正常。提示,Ⅳ型胶原α链分布异常是Alport综合征的一个诊断标志;皮肤活检观察α5~α6(Ⅳ)的分布有助于X染色体连锁显性遗传患者及携带者的诊断。

 
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