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植入前基因诊断:分子医学中的应用

Preimplantation genetic diagnosis: applications for molecular medicine.

作者信息

Wells D, Delhanty J D

机构信息

UCL Centre for Preimplantation Genetic Diagnosis, Dept of Obstetrics and Gynaecology, University College London, 86-96 Chenies Mews, London, UK WC1E 6HX.

出版信息

Trends Mol Med. 2001 Jan;7(1):23-30. doi: 10.1016/s1471-4914(00)01867-0.

DOI:10.1016/s1471-4914(00)01867-0
PMID:11427985
Abstract

Preimplantation genetic diagnosis is an alternative to prenatal diagnosis for the detection of genetic disorders. Tests are conducted on single cells biopsied from embryos before they are implanted, allowing the selection of unaffected embryos before a pregnancy has been established. Thus, the issue of pregnancy termination is circumvented. The use of preimplantation genetic diagnosis might have a significant impact on in vitro fertilization success rates as well as allowing the diagnosis of inherited disease.

摘要

植入前基因诊断是一种用于检测遗传疾病的产前诊断替代方法。在胚胎植入前,对从胚胎中活检的单个细胞进行检测,从而在确定妊娠之前选择未受影响的胚胎。因此,避免了终止妊娠的问题。植入前基因诊断的应用可能会对体外受精成功率产生重大影响,同时也能实现对遗传性疾病的诊断。

相似文献

1
Preimplantation genetic diagnosis: applications for molecular medicine.植入前基因诊断:分子医学中的应用
Trends Mol Med. 2001 Jan;7(1):23-30. doi: 10.1016/s1471-4914(00)01867-0.
2
Inherited genetic defects: analysis and diagnosis at the cellular level in preimplantation embryos.
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Single-nucleotide polymorphism microarray-based preimplantation genetic diagnosis is likely to improve the clinical outcome for translocation carriers.基于单核苷酸多态性微阵列的胚胎植入前遗传学诊断可能会改善易位携带者的临床结局。
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Preimplantation diagnosis of genetic diseases.遗传病的植入前诊断
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Sex determination of human embryos using the polymerase chain reaction and confirmation by fluorescence in situ hybridization.利用聚合酶链反应对人类胚胎进行性别鉴定并通过荧光原位杂交进行确认。
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Preimplantation genetic diagnosis.植入前基因诊断
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Clinical experience with preimplantation genetic diagnosis and intracytoplasmic sperm injection.胚胎植入前基因诊断与卵胞浆内单精子注射的临床经验。
Hum Reprod. 1998 Apr;13 Suppl 1:186-95. doi: 10.1093/humrep/13.suppl_1.186.
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[Preimplantation genetic diagnosis. The first experiences in Denmark].[植入前基因诊断。丹麦的首次经验]
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The in vivo and in vitro efficiency and efficacy of PGD for aneuploidy.植入前基因诊断(PGD)针对非整倍体的体内和体外效率及功效。
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[Prenatal and preimplantation genetic diagnosis: decision tree, new practices?].[产前和植入前基因诊断:决策树,新实践?]
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Ann Transl Med. 2021 Jul;9(13):1091. doi: 10.21037/atm-21-747.
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Is preimplantation genetic diagnosis the ideal embryo selection method in aneuploidy screening?胚胎植入前遗传学诊断是非整倍体筛查中理想的胚胎选择方法吗?
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Prenatal sex determination in suspicious cases of X-linked recessive diseases by the amelogenin gene.
应用 AMELY 基因检测可疑 X 连锁隐性遗传病的胎儿性别
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Heterozygosity assessment of five STR loci located at 5q13 region for preimplantation genetic diagnosis of spinal muscular atrophy.评估位于 5q13 区域的五个 STR 基因座的杂合性,用于脊髓性肌萎缩症的植入前遗传学诊断。
Mol Biol Rep. 2013 Jan;40(1):67-72. doi: 10.1007/s11033-012-2011-3. Epub 2012 Nov 7.
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Preimplantation genetic diagnosis of alpha-thalassemia-SEA using novel multiplex fluorescent PCR.应用新型多重荧光 PCR 技术对α-地中海贫血-SEA 进行植入前遗传学诊断。
J Assist Reprod Genet. 2012 Jan;29(1):95-102. doi: 10.1007/s10815-011-9641-6. Epub 2011 Oct 1.
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Preimplantation genetic diagnosis: present and future.植入前基因诊断:现状与未来。
J Assist Reprod Genet. 2007 Jun;24(6):201-7. doi: 10.1007/s10815-007-9112-2.
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Future direction of medical genetics.医学遗传学的未来发展方向
Ulster Med J. 2001 May;70(1):1-2.