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Spinal muscular atrophy detection method,

A spinal muscular atrophy and detection method technology, applied in the field of genetic detection, can solve the problems of insufficient comprehensiveness and accuracy of detection results

Active Publication Date: 2021-07-23
深圳会众生物技术有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

[0006] The main purpose of the present invention is to propose a spinal muscular atrophy detection method, aiming to solve the technical problem that the detection results of the existing detection methods are not comprehensive and accurate enough

Method used

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  • Spinal muscular atrophy detection method,

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Embodiment 1

[0043] Optionally, the 5' ends of the nucleotide sequences four to seven are respectively connected to the FAM fluorescent group, and the 3' ends are respectively connected to the BHQ1 quenching group; the 5' ends of the nucleotide sequences eight to eleven are respectively The VIC fluorescent group is connected, and the 3' ends are respectively connected to the BHQ1 quenching group; the 5' ends of the nucleotide sequence twelve to fourteen are respectively connected to the ROX fluorescent group, and the 3' ends are respectively connected to the BHQ2 quenching group; The 5' ends of the 15th to 17th nucleotide sequences are respectively connected with a CY5 fluorescent group, and the 3' ends are respectively connected with a BHQ3 quenching group. The -39P detects the c.-39A>G site. The -7A5P detects c.-7_9del and c.5C>G sites. The 22P detects the c.22dupA site. The 40A43P detects c.40G>T and c.43C>T sites. The 56P detects the c.56delT site. The 84P detects c.84C>T. The 326...

Embodiment 2

[0071] Using the detection method of the present invention, 150 cases of clinical samples were detected, and the detection results were compared with MLPA and Sanger sequencing methods. See Table 7 for test results.

[0072] Table 7 Test results of clinical samples

[0073]

[0074]

[0075]

[0076]

[0077]

[0078] The data in Table 7 shows that the detection result of the detection method of the present invention is completely consistent with the detection result of the prior art (MLPA and Sanger sequencing method), indicating that the accuracy of the detection method of the present invention is 100%, and the reliability of the detection method of the present invention is 100%. It is very high and can be used for clinical testing.

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Abstract

The invention discloses a spinal muscular atrophy detection method. The spinal muscular atrophy detection method comprises the steps of sample genome DNA extraction, amplification primer and detection probe design and synthesis, fluorescent quantitative PCR reaction, gene relative copy number calculation and base mutation level analysis. According to the spinal muscular atrophy detection method, simultaneous detection of the SMN1 relative copy number, the SMN2 relative copy number and SMN1 point mutation can be achieved, detection is comprehensive, the steps are simple, and clinical application and popularization are easy.

Description

technical field [0001] The invention relates to the technical field of gene detection, in particular to a method for detecting spinal muscular atrophy. Background technique [0002] Spinal muscular atrophy (SMA) is a relatively common recessive genetic disease. According to the age of onset and clinical manifestations of SMA patients, it is divided into 4 types: type I (severe type), type II (intermediate type), type III (mild type) and type IV (adult type). The causative gene SMN of SMA is located on chromosome 5qll.2-13.3, and there are two copies with high homology, which are SMN1 on the telomeric side and SMN2 on the centromere side. The stop codon of SMN gene is located in exon 7, and there is only one base difference between the coding sequences of SMN1 and SMN2, that is, the difference of C>T in exon 7. [0003] SMN1 deletion is the main cause of SMA. About 95% of patients are caused by the deletion of exon 7 of SMN1, and very few of them are caused by the deleti...

Claims

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Application Information

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IPC IPC(8): C12Q1/6858C12Q1/6883C12N15/11
CPCC12Q1/6858C12Q1/6883C12Q2600/156C12Q2531/113C12Q2563/107C12Q2537/16
Inventor 刘晶晶刘福平
Owner 深圳会众生物技术有限公司
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