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   遗传学诊断 在 临床医学 分类中 的翻译结果: 查询用时:0.379秒
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遗传学诊断
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  genetic diagnosis
    Conclusion Real-time FQ-PCR is a reliable method that may provide a new way for non-invasive prenatal diagnosis and preimplantation genetic diagnosis for Down's syndrome.
    结论实时荧光定量PCR是一种可信的诊断方法,为唐氏综合征的无创性产前诊断及植入前遗传学诊断等提供了新的思路。
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    Preimplantation genetic diagnosis
    植入前遗传学诊断四例临床分析
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    Nursing on Patients with Preimplantation Genetic Diagnosis
    接受胚胎植入前遗传学诊断患者的护理
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    Closely linked polymorphic marker: successful application in preimplantation genetic diagnosis for beta-thalassemia
    紧密连锁的多态性位点在β地中海贫血植入前遗传学诊断中的应用(英文)
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    Objective: To establish a technique of single cell 5-plex nest PCR for Ducheme muscular dystrophy (DMD) detection and evaluate the possibility of using for preimplantation genetic diagnosis (PGD).
    目的:探索建立单细胞多重巢式PCR检测杜氏肌营养不良症(DMD)基因外显子17、19、44、45、48的技术,及应用于植入前遗传学诊断(PGD)的前景。
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  “遗传学诊断”译为未确定词的双语例句
    Conclusion This is the first report on unaffected pregnancy resulting from PGD using multiplex nested PCR in China.
    结论本研究为国内首次报道应用多重巢式PCR同时检测β珠蛋白基因及HumTH01基因对β地贫进行植入前遗传学诊断并成功获得临床妊娠。
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    Conclusion Single cell fluorescent PCR is a stable and reliable approach for the PGD.
    结论利用单细胞荧光PCR技术进行着床前遗传学诊断是可行的。
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  genetic diagnosis
The short report will be focused on the genetic basis and possible mechanisms of tumorigenesis, common types of cancer, the importance of genetic diagnosis of cancer, and the methodology of cancer genetic diagnosis.
      
Preimplantation genetic diagnosis for Down syndrome pregnancy
      
Definition of the problem: Preimplantation genetic diagnosis (PGD) is a new technique to test the in-vitro embryo for genetic disorders.
      
Our inquiry focuses on the textual, visual and musical elements that are used in two short television features on preimplantation genetic diagnosis.
      
A genetic diagnosis allows relatives to undergo predictive testing and helps to streamline surgical and screening recommendations for patients and their relatives.
      
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We investigated 10 families with fragile x syndrome by Southern Blot using FMR-1 gene site probe StB12. 3, including 3 male patients. 3 female patients、 6 female carriers. 5 dubious male patients and 3 dubious female carriers diagnosed by cytogenetics. It showed that there was an equal or over 0. 5kb insert in the (CGG)n sequence of FMR-1 gene in 2 male patients (2/3)、2 female patients (2/3)、 2 female carriers (2/3)、1 dubious male patient (1/5) and 1 dubious female patient (1/3). It suggested that the insert...

We investigated 10 families with fragile x syndrome by Southern Blot using FMR-1 gene site probe StB12. 3, including 3 male patients. 3 female patients、 6 female carriers. 5 dubious male patients and 3 dubious female carriers diagnosed by cytogenetics. It showed that there was an equal or over 0. 5kb insert in the (CGG)n sequence of FMR-1 gene in 2 male patients (2/3)、2 female patients (2/3)、 2 female carriers (2/3)、1 dubious male patient (1/5) and 1 dubious female patient (1/3). It suggested that the insert in the (CGG). sequence of FMR-1 gene was not the only reason inducing the fragile x syndrome.

运用FMR—1基因位点探针StB12.3,通过SouthernBlot方法调查了10个脆性X综合征家系,其中包括细胞遗传学确诊的男性患者3人,女性患者3人,女性携带者6人;细胞遗传学诊断可疑的男性患者5人,女性携带者3人。仅发现2个男性患者(2/3)、2个女性患者(2/3)、2个女性携带者(1/3)、1个可疑男性患者(1/5)、1个可疑女性携带者(1/3)的FMR—1基因(CGG)n顺序具有等于或大于0.5Kb的插入,提示FMR—1基因中(CGG)n顺序的插入并不是导致脆性X综合征的唯一原因。

Objective: To detect and isolate the trophoblasts from peripheral maternal blood. Design: Experimental cell and molecular biology study. Settings: The Genetic laboratory of National Research Institute for Family Planning. Subjects: 55 Chinese pregnant women at 8th to 14th gestational weeks. Methods: The H315 antigen positive cells in maternal peripheral blood from 28 pregnant women were detected with monoclonal antibodies, McAb H315 against membrane antigen expressed on the placental trophoblasts by APAAP...

Objective: To detect and isolate the trophoblasts from peripheral maternal blood. Design: Experimental cell and molecular biology study. Settings: The Genetic laboratory of National Research Institute for Family Planning. Subjects: 55 Chinese pregnant women at 8th to 14th gestational weeks. Methods: The H315 antigen positive cells in maternal peripheral blood from 28 pregnant women were detected with monoclonal antibodies, McAb H315 against membrane antigen expressed on the placental trophoblasts by APAAP technique. The trophoblastic antigen positive cells from the peripheral blood of another 14 pregnant women were detected by flow cytometry with McAb H315 and monoclonal antibody namely McAb FT1 41.1 against syncytiotrophoblastic membrane antigen. In addition,H315 positive and negative cells were isolated from the peripheral blood of 13 pregnant women bearing male fetus by using fluorescence activated cell sorting (FACS) technique, and were verified by fluorescence in situ hybridization (FISH) with Y chromosome specific DYZ 1 probe. Results: The fetal trophoblast cells were only present in the trophoblastic antigen positive populations, and 11.4± 4.3% of the H315 positive sorted cells showed positive signnal with the Y probe. Conclusions: At least two types of trophoblasts, including cytotrophoblast and syncytiotrophoblast cells were found in the maternal blood in the first trimester. Also, the identification of chromosome aneuploidy in early pregnancy is possible by using trophoblasts sorted from maternal peripheral blood, followed by FISH with chromosome specific DNA probe.

为从孕妇血中检测和分离胎盘滋养层细胞,对55例孕8~14周母血中细胞滋养层H315和合体滋养层FT1-41.1抗原阳性细胞分别进行了免疫细胞化学检测、流式细胞分析、荧光激活细胞分离(FACS)及荧光原位杂交分析(FISH)。结果在28例和14例孕妇外周血中分别检出了H315和FT1-41.1抗原阳性细胞;而13名怀男胎孕妇外周血H315阳性细胞经FACS分选及Y染色体探针的FISH分析,其中杂交阳性细胞含量平均为11.4±4.3%。认为:孕8~14周母血循环中存在细胞滋养层和合体滋养层细胞,有可能利用这些细胞在孕早期对胎儿染色体非整倍性异常进行产前分子细胞遗传学诊断

Objective: To establish a technique of single cell 5-plex nest PCR for Ducheme muscular dystrophy (DMD) detection and evaluate the possibility of using for preimplantation genetic diagnosis (PGD). Methods:Single lymphocyte in normal males and single blastomere from couple with no family history of DMD were obtained. Single cell 5-plex nest PCR for exons 17,19,44,45 and 48 of DMD gene was established. The success rates of amplification and specialities were analyzed. Results:The success rate of amplification...

Objective: To establish a technique of single cell 5-plex nest PCR for Ducheme muscular dystrophy (DMD) detection and evaluate the possibility of using for preimplantation genetic diagnosis (PGD). Methods:Single lymphocyte in normal males and single blastomere from couple with no family history of DMD were obtained. Single cell 5-plex nest PCR for exons 17,19,44,45 and 48 of DMD gene was established. The success rates of amplification and specialities were analyzed. Results:The success rate of amplification in total 100 exons from 20 single lymphocytes is 97% (97/100) and the false positive rate is 4% (1/25) and the false negative rate is 0%(0/25). The success rate of amplification from the 20 blastomeres is 80% (80/100) and the false positive rate is 0% (0/28). Conclusion: The technique of single cell 5-plex nest PCR for exons 17,19,44,45 and 48 of DMD gene established in this program is highly successful and specific,it is practically possible to use this method for PGD of DMD.

目的:探索建立单细胞多重巢式PCR检测杜氏肌营养不良症(DMD)基因外显子17、19、44、45、48的技术,及应用于植入前遗传学诊断(PGD)的前景。方法;获取正常男性单个淋巴细胞和无DMD家族史的单个胚胎细胞,行DMD基因外显子17、19、44、45、48的五重巢式PCR,分析扩增成功率、假阳性率和假阴性率。结果:20个单个淋巴细胞5个外显子扩增成功率为97%(97/100)、假阳性率为4%(1/25)、假阴性率为0%(0/25),20个单个胚胎细胞5个外显子扩增成功率为80%(80/100)、假阳性率为0%(0/25)。结论:本文建立的单细胞DMD基因外显子17、19、44、45、48的五重巢式PCR技术具有较高扩增成功率和特异性,应用于DMD的PGD具有现实的可能性。

 
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