Full COLD-PCR protocol for noninvasive prenatal diagnosis of genetic diseases.
作者信息
Galbiati Silvia, Brisci Angela, Lalatta Faustina, Seia Manuela, Makrigiorgos G Mike, Ferrari Maurizio, Cremonesi Laura
出版信息
Clin Chem. 2011 Jan;57(1):136-8. doi: 10.1373/clinchem.2010.155671. Epub 2010 Oct 25.
Abstract
摘要
相似文献
1
Full COLD-PCR protocol for noninvasive prenatal diagnosis of genetic diseases.用于遗传性疾病无创产前诊断的完整COLD-PCR方案。
Clin Chem. 2011 Jan;57(1):136-8. doi: 10.1373/clinchem.2010.155671. Epub 2010 Oct 25.
2
Detection of Paternal IVS-II-1 (G>A) (: c.315+1G>A) Mutation in Cell-Free Fetal DNA Using COLD-PCR assay.应用 COLD-PCR 技术检测游离胎儿 DNA 中父源性 IVS-II-1(G>A) 突变（c.315+1G>A）。
Hemoglobin. 2020 May;44(3):168-173. doi: 10.1080/03630269.2020.1768864. Epub 2020 Jul 23.
3
Noninvasive prenatal diagnosis of monogenic diseases by targeted massively parallel sequencing of maternal plasma: application to β-thalassemia.采用靶向大规模平行测序技术对母体外周血进行单基因病的无创性产前诊断：在β-地中海贫血中的应用。
Clin Chem. 2012 Oct;58(10):1467-75. doi: 10.1373/clinchem.2012.189589. Epub 2012 Aug 15.
4
Primer-introduced restriction analysis polymerase chain reaction method for non-invasive prenatal testing of β-thalassemia.用于β地中海贫血无创产前检测的引物引入限制性分析聚合酶链反应方法
Hemoglobin. 2015;39(1):18-23. doi: 10.3109/03630269.2014.984071. Epub 2014 Dec 30.
5
Detection of unknown deletions in beta-globin gene cluster using PCR-reverse dot-blot method in prenatal diagnosis.采用聚合酶链反应-反向斑点杂交法在产前诊断中检测β-珠蛋白基因簇中的未知缺失
Eur J Haematol. 2009 Oct;83(4):385-6. doi: 10.1111/j.1600-0609.2009.01293.x. Epub 2009 Jun 10.
6
β-Thalassemia mutations found during 1 year of prenatal diagnoses in Fars Province, Iran.在伊朗法尔斯省进行的1年产前诊断期间发现的β地中海贫血突变。
Hemoglobin. 2011;35(4):331-7. doi: 10.3109/03630269.2011.601385.
7
Prenatal Diagnosis of β-thalassemia with Cell-free Fetal DNA in Maternal Plasma.利用孕妇血浆中游离胎儿DNA进行β-地中海贫血的产前诊断。
J Coll Physicians Surg Pak. 2019 May;29(5):483-485. doi: 10.29271/jcpsp.2019.05.483.
8
Development of a PCR/LDR/capillary electrophoresis assay with potential for the detection of a beta-thalassemia fetal mutation in maternal plasma.一种用于检测孕妇血浆中β地中海贫血胎儿突变的具有潜力的聚合酶链反应/连接酶检测反应/毛细管电泳分析方法的开发。
J Matern Fetal Neonatal Med. 2010 Aug;23(8):920-7. doi: 10.3109/14767050903387060.
9
10
Development of new substrates for high-sensitive genotyping of minority mutated alleles.用于少数突变等位基因高灵敏度基因分型的新型底物的开发。
Electrophoresis. 2008 Dec;29(23):4714-22. doi: 10.1002/elps.200800242.
引用本文的文献
1
Polymerase Chain Reaction: A Toolbox for Molecular Discovery.聚合酶链式反应：分子发现的工具箱
Mol Biotechnol. 2025 Feb 15. doi: 10.1007/s12033-025-01390-z.
2
Non-invasive prenatal diagnosis (NIPD): current and emerging technologies.非侵入性产前诊断（NIPD）：当前技术与新兴技术
Extracell Vesicles Circ Nucl Acids. 2023 Feb 22;4(1):3-26. doi: 10.20517/evcna.2022.44. eCollection 2023.
3
Enzyme-Assisted Nucleic Acid Amplification in Molecular Diagnosis: A Review.酶辅助核酸扩增在分子诊断中的应用：综述。
Biosensors (Basel). 2023 Jan 19;13(2):160. doi: 10.3390/bios13020160.
4
Enzymatic Methods for Mutation Detection in Cancer Samples and Liquid Biopsies.癌症样本和液体活检测序中基因突变的酶学法检测。
Int J Mol Sci. 2023 Jan 4;24(2):923. doi: 10.3390/ijms24020923.
5
Pre-PCR Mutation-Enrichment Methods for Liquid Biopsy Applications.用于液体活检应用的PCR前突变富集方法。
Cancers (Basel). 2022 Jun 27;14(13):3143. doi: 10.3390/cancers14133143.
6
Nuclease-Assisted, Multiplexed Minor-Allele Enrichment: Application in Liquid Biopsy of Cancer.核酸酶辅助的多重小等位基因富集：在癌症液体活检中的应用。
Methods Mol Biol. 2022;2394:433-451. doi: 10.1007/978-1-0716-1811-0_22.
7
Mutation enrichment in human DNA samples via UV-mediated cross-linking.通过紫外线介导的交联在人类 DNA 样本中富集突变。
Nucleic Acids Res. 2022 Apr 8;50(6):e32. doi: 10.1093/nar/gkab1222.
8
Sensitive detection of microsatellite instability in tissues and liquid biopsies: Recent developments and updates.组织和液体活检中微卫星不稳定性的灵敏检测：最新进展与更新
Comput Struct Biotechnol J. 2021 Aug 27;19:4931-4940. doi: 10.1016/j.csbj.2021.08.037. eCollection 2021.
9
NAPA Assay: Development and Analytical Validation of a Highly Sensitive and Specific Blood-Based Assay for the Detection of Mutations in Liquid Biopsies.NAPA检测：一种用于检测液体活检中突变的高灵敏度和特异性血液检测方法的开发与分析验证
Cancers (Basel). 2021 Feb 1;13(3):556. doi: 10.3390/cancers13030556.
10
NGS-based identification and tracing of microsatellite instability from minute amounts DNA using inter-Alu-PCR.基于 NGS 的利用 Alu 内序列 PCR 技术从微量 DNA 中鉴定和追踪微卫星不稳定性。
Nucleic Acids Res. 2021 Feb 26;49(4):e24. doi: 10.1093/nar/gkaa1175.
本文引用的文献
1
The quest for accurate measurement of fetal DNA in maternal plasma.在母体血浆中精确测量胎儿DNA的探索。
Clin Chem. 2011 Mar;57(3):522-3. doi: 10.1373/clinchem.2010.149757. Epub 2010 Sep 13.
2
Replacing PCR with COLD-PCR enriches variant DNA sequences and redefines the sensitivity of genetic testing.用COLD-PCR取代PCR可富集变异DNA序列并重新定义基因检测的灵敏度。
Nat Med. 2008 May;14(5):579-84. doi: 10.1038/nm1708. Epub 2008 Apr 13.
3
Peptide-nucleic acid-mediated enriched polymerase chain reaction as a key point for non-invasive prenatal diagnosis of beta-thalassemia.肽核酸介导的富集聚合酶链反应作为β地中海贫血无创产前诊断的关键
Haematologica. 2008 Apr;93(4):610-4. doi: 10.3324/haematol.11895. Epub 2008 Mar 6.
4
Fetal DNA detection in maternal plasma throughout gestation.孕期母血中胎儿DNA的检测。
Hum Genet. 2005 Jul;117(2-3):243-8. doi: 10.1007/s00439-005-1330-z. Epub 2005 May 20.
Zotero 插件