Identification of Different Genomic Deletions and One Duplication in the Dysferlin Gene Using Multiplex Ligation-Dependent Probe Amplification and Genomic Quantitative PCR

Martin Krahn; Ana Borges; Claire NavarroRobert SchuitTanya StojkovicYvan TorrenteNicolas WeinChristophe PecheuxNicolas Levy

首页> 外文期刊>Genetic testing and molecular biomarkers >Identification of Different Genomic Deletions and One Duplication in the Dysferlin Gene Using Multiplex Ligation-Dependent Probe Amplification and Genomic Quantitative PCR

【24h】

Identification of Different Genomic Deletions and One Duplication in the Dysferlin Gene Using Multiplex Ligation-Dependent Probe Amplification and Genomic Quantitative PCR

机译：不同的基因缺失和识别Dysferlin基因的重复使用多路复用Ligation-Dependent探测器放大和基因定量聚合酶链反应

获取原文

获取原文并翻译 | 示例

掌桥外文数据库（机构版） >>

开具论文收录证明 >>

文献代查 >>

页面导航

摘要
著录项
相似文献
相关主题

摘要

We report for the first time the characterization of disease-causing exonic rearrangements in the large-sized gene encoding dysferlin. A newly developed kit for multiplex ligation-dependent probe amplification analysis of the dysferlin gene was used for a total of 12 samples from patients with suspected diagnosis of primary dysferli-nopathy. This analysis and subsequent genomic quantitative real-time PCR evidenced exonic rearrangements in five patients, including four different exonic deletions and one duplication. Altogether, our findings confirm the existence of exonic rearrangements as disease-causing mutations in primary dysferlinopathies.

机译：我们报告第一次鉴定的致病其实重组大型基因编码dysferlin。多元ligation-dependent开发工具包探测器放大dysferlin的分析基因用于共有12个样本疑似患者主要的诊断dysferli-nopathy。基因定量实时PCR证明在五个病人其实重组,包括四种不同的其实删除和1重复。的存在其实重组主要致病突变dysferlinopathies。

著录项

来源
《Genetic testing and molecular biomarkers》 |2009年第4期|439-442|共4页
作者
Martin Krahn; Ana Borges; Claire NavarroRobert SchuitTanya StojkovicYvan TorrenteNicolas WeinChristophe PecheuxNicolas Levy;
展开▼
作者单位

IMRC-Holland BV, Amsterdam, The Netherlands;

Departement de Genetique Medicale, Hopital d'Enfants de la Timone, Assistance Publique Hopitaux de Marseille, Marseille, France;

Inserm UMR910: "Genetique Medicale et Genomique Fonctionnelle," Faculte de Medecine, University de la Mediterranee, Marseille, FranceInstitut de Myologie, Groupe Hospitalier Pitie-Salpetriere, Assistance Publique Hopitaux de Paris, Paris, FranceStem Cell Laboratory, Department of Neurological Sciences, Fondazione IRCCS Ospedale Maggiore Policlinico, Centro Dino Ferrari, University of Milan, Milan, Italy;

展开▼
收录信息
原文格式 PDF
正文语种英语
中图分类
关键词
Genomics; Authentication; Multiplex Ligation-Dependent Probe AmplificationDYSF genedeletionsDYSF protein, humanReplication;

机译：基因组学;认证;多路复用Ligation-Dependent探针AmplificationDYSFgenedeletionsDYSF蛋白质,humanReplication;

相似文献

外文文献
中文文献

1. Multiplex ligation-dependent probe amplification for rapid detection of deletions and duplications in the dystrophin gene [J] . 中国人民解放军军医大学学报（英文版） . 2007,第006期
2. Development of Genomic Microsatellite Multiplex PCR Using Dye-Labeled Universal Primer and Its Validation in Pedigree Analysis of Pacific Oyster (Crassostrea gigas) [J] . LIU Ting, LI Qi, SONG Junlin, 中国海洋大学学报（英文版） . 2017,第001期
3. Single Cell HLA Matching Feasibility by Whole Genomic Amplification and Nested PCR [J] . Xiao-hong Li, Fang-yin Meng 中国医学科学杂志（英文版） . 2004,第003期
4. New insights into structural organization and gene duplication in a 1.75鈥怣b genomic region harboring the 伪鈥恎liadin gene family in Aegilops tauschiiAegilops tauschii , the source of wheat D genome [J] . Huo Naxin, Dong Lingli, Zhang ShengliWang YiZhu TingtingMohr ToniAltenbach SusanLiu ZhiyongDvorak JanAnderson Olin D.Luo Ming鈥怌hengWang DaowenGu Yong Q. The Plant Journal . 2017,第4期

机译：组织结构和基因的新见解duplication in a 1.75钬怣b genomic region harboringthe 伪钬恎liadin gene family in AegilopstauschiiAegilops tauschii,小麦D的来源基因组
5. Breast cancer-specific survival (BCSS) in patients (pts) with node-negative (N0) and node-positive (N plus ) breast cancer (BC) guided by the 21-gene assay: a SEER-genomic real-world evidence study [J] . Winer E. P., Shak S., Sledge G. W. Jr., The Breast : . 2019,第Suppla1期

机译：患者（PTS）的乳腺癌特异性存活（BCSS）与节点阴性（N0）和Node阳性（N加）乳腺癌（BC）引导的21-Gene测定：Seer-Genomic现实世界的证据研究
6. Breast cancer-specific survival (BCSS) in patients (pts) with node-negative (N0) and node-positive (N plus ) breast cancer (BC) guided by the 21-gene assay: a SEER-genomic real-world evidence study [J] . Winer E. P., Shak S., Sledge G. W. Jr., The Breast : . 2019,第期

机译：患者（PTS）的乳腺癌特异性存活（BCSS）与节点阴性（N0）和Node阳性（N加）乳腺癌（BC）引导的21-Gene测定：Seer-Genomic现实世界的证据研究
7. A comparison of genomic copy number calls by Partek Genomics Suite Genotyping Console and Birdsuite algorithms to quantitative PCR [O] . Britney L Grayson, Thomas M Aune 2011

机译：Partek Genomics SuiteGenotyping Console和Birdsuite算法调用的基因组拷贝数与定量PCR的比较
8. Genomic and gene expression studies of Coprinopsis cinerea by 5' serial analysis of gene expression (SAGE). [O] . 2008

机译：Genomic and gene expression studies of Coprinopsis cinerea by 5' serial analysis of gene expression (saGE).

Identification of Different Genomic Deletions and One Duplication in the Dysferlin Gene Using Multiplex Ligation-Dependent Probe Amplification and Genomic Quantitative PCR

摘要

著录项

相似文献

相关主题

期刊订阅