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- Objective To investigate the feasibility of multiple displacement amplification(MDA) to apply in the non-invasive prenatal genetic diagnosis of Duchenne muscular dystrophy (DMD). 目的探讨多重置换扩增(multiple displacement amplification,MDA)方法应用到杜氏肌营养不良(Duchenne muscular dystrophy,DMD)的无创性产前基因诊断中的可行性。
- non-invasive prenatal genetic diagnosis 无创性产前基因诊断
- Keywords prenatal genetic diagnosis;nucleated red blood cell;fetal hemoglobin;immunohistochemistry; 产前基因诊断;有核红细胞;胎儿血红蛋白;免疫组织化学;
- prenatal genetic diagnosis 产前遗传学诊断
- 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。
- Preimplantation genetic diagnosis is a very early form of prenatal diagnosis aimed at eliminating embryos carrying serious genetic diseases before implantation. 植入前遗传学诊断作为产前诊断的一种形式,可在胚胎种植前进行诊断,从而防止遗传病的发生。
- Conclusion: Using single fetal NRBC for prenatal genetic analysis is feasible. 结论: 用母血中单个胎儿NRBC进行产前基因诊断是可行的。
- Objective To detect the female carriers from the intron and/or exon-deletion Duchenne/Becker musclular dystrophy (DMD) familial members for prenatal or preimplantation genetic diagnosis. 目的对内含子和(或)外显子缺失的Duchenne型肌营养不良症(Duchenne muscular dystrophy,DMD)家系女性成员进行致病基因携带者的诊断,为进一步行产前诊断或植入前遗传学诊断提供准确的信息。
- A technique already in use is called preimplantation genetic diagnosis (PGD). 目前已经应用的一项技术叫做植入前基因诊断(PGD)。
- Conclution The PCR-DraI method is highly specific,sensitive and suittable for genetic diagnosis of SMA . 结论 PCR DraI酶切法检测适用于SMA的基因诊断
- Conclusion:Single blastomere PCR is stable and reliable,and it can be used for preimplantation genetic diagnosis... 结论建立的单卵裂球PCR技术是稳定可靠的,可以用于单基因病的着床前遗传学诊断。
- Objective:To establish the method of preimplantation genetic diagnosis(PGD) by use of first polar bodies. 目的:建立采用第一极体植入前染色体非整倍体诊断的方法。
- Objective: To establish a genetic diagnosis assay for spinal muscular atrophy (SMA) in children. 摘要目的:建立儿童型脊髓性肌萎缩症(SMA)的特异性基因诊断平台。
- Herein,we briefly describe the latest advances of the research on the genetic diagnosis of monogenetic inherited ... 本文将概述单基因遗传性内分泌代谢病的基因诊断及其临床应用方面的最新研究进展。
- ESHRE preimplantation genetic diagnosis (PGD)consortium:data collection.(May 2000)[J].Human Reprod,2000,15:2673-2680. 徐艳文庄广伦.;荧光原位杂交技术在胚胎植入前性别诊断中的应用[J]
- Conclusion:Single blastomere PCR is stable and reliable,and it can be used for preimplantation genetic diagnosis. 目的建立单卵裂球PCR技术,为开展单基因病的着床前遗传学诊断奠定基础。
- Objectives:This study is to set up a technique of single blastomere PCR,and to provide a basis for preimplantation genetic diagnosis. 目的建立单卵裂球PCR技术,为开展单基因病的着床前遗传学诊断奠定基础。方法共对103个卵裂球进行了PCR扩增;
- Human embryo preimplantation genetic diagnosis (PGD) for sure can solve some problems who have genetic disorder or disease. 人类胚胎着床前遗传学诊断(PGD)能解决诸多有关遗传学异常或疾病的问题。
- Guideline of Medical Ethics in Prenatal Genetic Counseling 医学伦理学在产前遗传咨询中的应用探讨
- The field of this course mainly studies the chromosomal disorder, single gene disorder,polygenetic disorders,genetic diagnosis and counseling. 本课程的五个重要内容包括染色体病、单基因遗传病、多基因遗传病、遗传学诊断与遗传咨询。