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缺失热区
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  deletion hot spot
     Intron 44 is not the most unstable intron in the “central deletion hot spot” of dystrophin gene
     44号内含子并非是dystrophin基因中央缺失热区最不稳定的内含子
短句来源
     Introns 48, 50 and 51 are comparatively instable in “central deletion hot spot”.
     48号、5 0号、5 1号内含子是中央缺失热区较不稳定的几个内含子 ,5 0号内含子的不稳定性存在种族差异。
短句来源
     Conclusion Intron 44 is more stable than the whole molecular region of “central deletion hot spot”.
     结论  44号内含子的稳定性要高于整个中央缺失热区分子结构的稳定性。
短句来源
     (4) By analysing the yeast artifical chromosome physical map, fine restricted enzyme map in partial dystrophin gene, and the DNA sequence of the deletion hot spot in the dystrophin gene , the relationship between the homologous sequences of AT hases rich - region in the intron and DNA deletion firstly discovered.
     ④部分抗肌萎缩蛋白基因YAC物理图谱,精细限制酶图谱和缺失热区的核苷酸顺序分析,首次发现内含子中AT富集区的同源顺序与DMD断裂有关。
短句来源
     he partial intron 44 , 50 ,and 51 of deletion hot spot in the dystrophin gene was analyzed by software :Genepro. The results showed that the deletion hot spots contained an aggregated AT-rich sequences in different introns.
     用Genepro程序在计算机上对抗肌萎缩蛋白基因缺失热区部分44号、50号和51号内含子进行分析,结果表明该基因缺失热区AT(腺嘌呤-胸腺嘧啶)含量高,呈聚集性分布。
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  “缺失热区”译为未确定词的双语例句
     Conclusions 86 deletions of dystrophin gene were clustered mainly in two highfrequency deletion regions, 59 cases(68.6%) located in the region of exons 44~52 corresponding to the area covered by the four exons in 3′ side of cDNA 7 and cDNA 8;
     结论基因缺失的分布具有一定的规律性。 86例缺失主要集中在两个缺失热区内,其中59例(68.6%)分布于外显子44~52,相当于cDNA8和7的3′端4个外显子覆盖的区域内。
短句来源
     Results: The deletion of one or more exons was found in 21 patients. 16 cases(76.2%) were detected in the central region and 5 patients(23.8%) in the 5′ extreme region,especially in exon 48(6 patients).
     结果:共发现21例外显子缺失,缺失片段长度各异,其中16例(76.2%)累及中央缺失热区,5例(23.8%)位于5′端缺失热区,尤以48号外显子缺失频率最高。
短句来源
     Results: The deletion of one or more exons was found in 21 patients. 16 cases (76. 2%)were detected in the central region and 5 patients (23. 8%)in the 5' extreme region, especially in exon 48(6 patients).
     结果:21例患者(50.0%)被检出外显子缺失,缺失片段长度各异,其中16例(76.2%)累及中央缺失热区,5例(23.8%)位于5端缺失热区,尤以48号外显子缺失频率最高。
短句来源
     Objective To study the exons deletion mechanisms for dystrophin gen e, the molecular characters of breakpoints of junction fragments for deletion-t y pe Duchenne muscular dystrophy (DMD) patients with 46 and 51 exons deletion were compared and analyzed.
     目的 对比分析缺失型杜氏肌营养不良症 (Duchenne muscular dystrophy,DMD)缺失热区第 46号和 51号外显子缺失后形成的连接片段的断裂点的分子结构特点 ,以研究 DMD基因外显子的缺失机理。
短句来源
     Results 42 gene deficiency were identified, the deficiency frequency was 56.7%, mainly distributed in central and 5′ extreme "hot spot", especially in exon 48 and 49. The combination of the two techniques can detect more gene deficiency than usual.
     结果 共检出 42例基因缺失病人 ,缺失率为 56 .7% ,主要分布于中央缺失热区和 5′端缺失热区 ,其中以 48号和 49号外显子缺失最为多见 ,这两种技术结合应用 ,可检出常规方法未能检出的缺失。
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  相似匹配句对
     government audit absent;
     政府审计的缺失;
短句来源
     Deletion 14.00 %;
     缺失为14%;
短句来源
     ③establishment of thermal region;
     ③建热区;
短句来源
     Intron 44 is not the most unstable intron in the “central deletion hot spot” of dystrophin gene
     44号内含子并非是dystrophin基因中央缺失热区最不稳定的内含子
短句来源
     Comparison and analysis of the molecular character of breakpoints in introns of deletion hotspots of dystrophin gene
     缺失型杜氏肌营养不良症缺失热区内含子断裂点分子结构特点的对比分析
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  deletion hot spot
A specific chromosomal site in satellite chromosome 7 (segment 44 adjacent to the nucleolus organizer region) of the standard karyotype was found to represent a deletion hot spot.
      
Cold sensitivity in the transfer of a plasmid with a deletion hot spot into recombination deficient B.
      
subtilis, which are readily transformable by plasmid DNA at 42° C cannot be transformed at 30° C with chimeric plasmid derivatives that contain the deletion hot spot defined previously (Alonso and Trautner 1985a, b).
      
Deletions generated following stimulation by the deletion hot spot of plasmid pHV15-1 were studied in Bacillus subtilis.
      
The most commonly deleted exons at the central deletion hot spot were exon 50 in the Singaporean, exons 49 and 50 in the Japanese, and exon 51 in the Vietnamese population.
      
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tudies on Duchenne muscular dystrophy during the past 10 years are briefly reviewed. Maninly included:(1)Clinical studies on DMD. (2)The sensitivty of serum CK. LDH. Mb in diagnosing DMD patients and the carriers. (3)Studies on the heart with noninvasive method and on the ultrastructure of the muscle with electron microscope。 (4) By analysing the yeast artifical chromosome physical map, fine restricted enzyme map in partial dystrophin gene, and the DNA sequence of the deletion hot spot in the dystrophin gene...

tudies on Duchenne muscular dystrophy during the past 10 years are briefly reviewed. Maninly included:(1)Clinical studies on DMD. (2)The sensitivty of serum CK. LDH. Mb in diagnosing DMD patients and the carriers. (3)Studies on the heart with noninvasive method and on the ultrastructure of the muscle with electron microscope。 (4) By analysing the yeast artifical chromosome physical map, fine restricted enzyme map in partial dystrophin gene, and the DNA sequence of the deletion hot spot in the dystrophin gene , the relationship between the homologous sequences of AT hases rich - region in the intron and DNA deletion firstly discovered. ( 5 ) The deletion hot spot hydrophobic peptide present or not closely related to DMD.

作者综述了10年来对Duchenne型肌营养不良症(DMD)的研究概况。主要包括①DMD的临床研究。②血清生化研究表明CK、LDH、Mb是诊断DMD病人和携带者的敏感指标。③心脏无创性检测和肌肉超微结构研究。④部分抗肌萎缩蛋白基因YAC物理图谱,精细限制酶图谱和缺失热区的核苷酸顺序分析,首次发现内含子中AT富集区的同源顺序与DMD断裂有关。⑤抗肌萎缩蛋白的缺失热区疏水肽段存在与否与DMD发病密切相关。

Using the multiplex PCR technique,we have screened the DNA of 66 patiens with Duchenne or Backer muscular dystrophy for deletions within two regions of“hotspot”.The oligonucleotide primers employed in this study initiate the amplification of exon 17 and 49 sequences.The results showed that 25 patients exhibited a deletion of at least one amplified exon fragment,and 71.4%of DMD deletions could be rapidly detected by the multiplex PCR system.This technique is significant in selecting cDNA probes effectively,especially...

Using the multiplex PCR technique,we have screened the DNA of 66 patiens with Duchenne or Backer muscular dystrophy for deletions within two regions of“hotspot”.The oligonucleotide primers employed in this study initiate the amplification of exon 17 and 49 sequences.The results showed that 25 patients exhibited a deletion of at least one amplified exon fragment,and 71.4%of DMD deletions could be rapidly detected by the multiplex PCR system.This technique is significant in selecting cDNA probes effectively,especially in prenatal diagnosis.

应用对应于Dystrophin基因缺失热区的二对PCR引物和一对内对照无关引物,在同一反应体系中扩增,检测66例DMD/BMD患者。发现其中25例存在17号或49号外显子缺失,与同时采用cDNA探针杂交检测出的35例基因缺失相比.检出率达71.4%。说明该扩增系统能够作为快速筛查缺失型DMD/BMD患者的有效手段。这对指导合理选用探针,尤其在产前诊断方面,具有重要意义。

Hydrophobicity and hydrophilicity plots of the 3685 amino acid sequence of dystrophin were analyzed using Genepro software(window 56)Our results firstly demonstrated that dystrophin contains four hydrophobic regions located in dystrophin amino acid domains 95-120,1990-2010,2438-2493,and 3150-3300,respectively.Among the four regions, the hydrophobicity in the third one(amino acids 2438-2493) is the strongest.We have named the third hydrophobic region the deletion hot spot hydrophobic peptide(DHSHP)of...

Hydrophobicity and hydrophilicity plots of the 3685 amino acid sequence of dystrophin were analyzed using Genepro software(window 56)Our results firstly demonstrated that dystrophin contains four hydrophobic regions located in dystrophin amino acid domains 95-120,1990-2010,2438-2493,and 3150-3300,respectively.Among the four regions, the hydrophobicity in the third one(amino acids 2438-2493) is the strongest.We have named the third hydrophobic region the deletion hot spot hydrophobic peptide(DHSHP)of dystrophin because the amino acids belonging to this region are coded bythe deletion hot spot exon 51 of the dystrophin gene.In order to assess the reletionship between deletions in DHSHP and phenotype,we analysed 65 cases of DMD and 136 cases of BMD with DNA inframe deletions of the dystrophin gene,Of the DMD patients, 75%(49) had deletion of the DHSHP.Of the BMD patients,98%(133) had presence of the DHSHP,(Chisquire test,P<0.01).This result suggests that the DHSHP region is a functional cone region of dystrophin.

用Genepro程序在计算机上分析抗肌萎缩蛋白的疏水性和亲水性,首次发现该蛋白存在4个疏水肽段,分别位于第95~120,1990~2010,2438~2493和3150~3300位氨基酸。其中第3疏水肽段(2438~2493位氨基酸)的疏水性最强,由抗肌萎缩蛋白基因第51号外显子碥码,称之为缺失热区疏水肽段。通过对65例整码缺失的DMD和136例整码缺失的BMD病例分析,75%(49例)的DMD患者缺失热区疏水肽段消失,98%(133例)的BMD患者缺失热区疏水肽段存在。提示缺失热区疏水肽段是抗肌萎缩蛋白的一个重要结构功能区。

 
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