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PCR-RFLP、测序和定量在脊髓性肌萎缩症的分子诊断中的应用：局限性和优势。

PCR-RFLP, sequencing, and quantification in molecular diagnosis of spinal muscular atrophy: limits and advantages.

机构信息

Medical Genetic Laboratory and Molecular Pathology, Medical School, Casablanca, Morocco.

出版信息

J Mol Neurosci. 2013 Jun;50(2):270-4. doi: 10.1007/s12031-012-9944-9. Epub 2013 Jan 8.

DOI:10.1007/s12031-012-9944-9
PMID:23297012
Abstract

Spinal muscular atrophy (SMA) is a severe neuromuscular disease. It is a common cause of infant mortality. Its incidence is estimated at 1 in 10,000. Clinically, age of onset and the symptoms can distinguish four types of SMA. The objective of this study is to make available to clinicians a reliable and reproducible test for the molecular diagnosis of SMA. We evaluate the benefits and limitations of three tests used in our laboratory (RFLP-PCR, sequencing, and qPCR).

摘要

脊髓性肌萎缩症（SMA）是一种严重的神经肌肉疾病。它是婴儿死亡的常见原因。其发病率估计为每 10000 例中有 1 例。临床上，发病年龄和症状可以区分 SMA 的四种类型。本研究的目的是为临床医生提供一种可靠且可重复的 SMA 分子诊断测试。我们评估了我们实验室使用的三种测试（RFLP-PCR、测序和 qPCR）的优缺点。

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本文引用的文献

1
In vivo activation of SMN in spinal muscular atrophy carriers and patients treated with valproate.在脊髓性肌萎缩症携带者和接受丙戊酸治疗的患者体内SMN的激活。
Ann Neurol. 2006 Jun;59(6):970-5. doi: 10.1002/ana.20836.
2
Mildly affected patients with spinal muscular atrophy are partially protected by an increased SMN2 copy number.脊髓性肌萎缩症症状较轻的患者因SMN2基因拷贝数增加而受到部分保护。
Hum Genet. 2006 May;119(4):422-8. doi: 10.1007/s00439-006-0156-7. Epub 2006 Mar 1.
3
Quantitative analyses of SMN1 and SMN2 based on real-time lightCycler PCR: fast and highly reliable carrier testing and prediction of severity of spinal muscular atrophy.
SMN1 基因中的 c.835-5T>G 变异导致外显子 7 转录排除和脊髓性肌萎缩症。
J Mol Neurosci. 2018 Jun;65(2):196-202. doi: 10.1007/s12031-018-1079-1. Epub 2018 May 24.
4
Next-generation sequencing-based molecular diagnosis of neonatal hypotonia in Chinese Population.基于新一代测序的中国新生儿低张力的分子诊断。
Sci Rep. 2016 Jun 29;6:29088. doi: 10.1038/srep29088.
基于实时荧光定量PCR的SMN1和SMN2定量分析：脊髓性肌萎缩症携带者的快速、高度可靠检测及严重程度预测
Am J Hum Genet. 2002 Feb;70(2):358-68. doi: 10.1086/338627. Epub 2001 Dec 21.
4
The predictive value of achieved motor milestones assessed in 441 patients with infantile spinal muscular atrophy types II and III.对441例II型和III型婴儿脊髓性肌萎缩症患者所评估的已达成运动里程碑的预测价值。
Eur Neurol. 2001;45(3):174-81. doi: 10.1159/000052118.
5
A single nucleotide difference that alters splicing patterns distinguishes the SMA gene SMN1 from the copy gene SMN2.一个改变剪接模式的单核苷酸差异，将脊髓性肌萎缩症基因SMN1与复制基因SMN2区分开来。
Hum Mol Genet. 1999 Jul;8(7):1177-83. doi: 10.1093/hmg/8.7.1177.
6
Sequence of a 131-kb region of 5q13.1 containing the spinal muscular atrophy candidate genes SMN and NAIP.5q13.1区域一个包含脊髓性肌萎缩症候选基因SMN和NAIP的131千碱基区域的序列。
Genomics. 1998 Feb 15;48(1):121-7. doi: 10.1006/geno.1997.5141.
7
Identification of proximal spinal muscular atrophy carriers and patients by analysis of SMNT and SMNC gene copy number.通过分析SMNT和SMNC基因拷贝数鉴定近端脊髓性肌萎缩症携带者和患者。
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8
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