实时荧光定量PCR检测脊髓运动神经元基因2 (SMN2)拷贝数。

Diagnostic Molecular Pathology Pub Date : 2012-09-01 DOI:10.1097/PDM.0b013e31824696b6

Maamouri-Hicheri Wieme, Hammer Monia Ben, Bouhlal Yosr, Souilem Sihem, Toumi Nawel, Manai-Azizi Ines, Bennour Wajdi, Khmiri Najla, Nahdi Houda, Hentati Faycal, Amouri Rim

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引用次数: 1

摘要

脊髓性肌萎缩症(SMA)是由存活运动神经元基因1 (SMN1)突变或缺失引起的常染色体隐性遗传病。SMN2是一种拷贝基因，影响SMA的严重程度，未来可能用于SMA患者的体细胞基因治疗。由天主教大学(罗马)医学遗传学研究所Danilo Tiziano博士及其团队在应用生物系统实时PCR仪器上开发的SMA携带者分析提供了一个可靠的工作流程来评估SMA携带者状态。在本研究中，我们利用7500 Fast real-time PCR系统，在相对实时PCR系统的基础上，开发了我们自己的检测方法，对22例患者的SMN2拷贝数进行了确认。

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Confirmation of the spinal motor neuron gene 2 (SMN2) copy numbers by real-time PCR.

Spinal muscular atrophy (SMA) is an autosomal recessive disease caused by mutation or deletion of the survival motor neuron gene 1 (SMN1). SMN2, a copy gene, influences the severity of SMA and may be used in somatic gene therapy of patients with SMA in the future. The SMA carrier analysis developed at the Institute of Medical Genetics, Catholic University (Rome), on the Applied Biosystems real-time PCR instruments by Dr Danilo Tiziano and his group, provides a robust workflow to evaluate SMA carrier status. In this study, the SMN2 copy number was confirmed on 22 patients by developing our own assay on the basis of a relative real-time PCR system using the 7500 Fast Real-Time PCR System.

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来源期刊

Diagnostic Molecular Pathology 医学-病理学

自引率

0.00%

发文量

审稿时长

>12 weeks

期刊介绍： Diagnostic Molecular Pathology focuses on providing clinical and academic pathologists with coverage of the latest molecular technologies, timely reviews of established techniques, and papers on the applications of these methods to all aspects of surgical pathology and laboratory medicine. It publishes original, peer-reviewed contributions on molecular probes for diagnosis, such as tumor suppressor genes, oncogenes, the polymerase chain reaction (PCR), and in situ hybridization. Articles demonstrate how these highly sensitive techniques can be applied for more accurate diagnosis.