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Spinal muscular atrophy test

A spinal muscular atrophy and detection probe technology, applied in the field of spinal muscular atrophy detection, can solve the problem of incomplete and accurate detection results

Active Publication Date: 2022-07-19
深圳会众生物技术有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

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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Embodiment 1

[0043] Optionally, the 5' ends of the nucleotide sequences four to seven are respectively connected to a FAM fluorescent group, and the 3' ends are respectively connected to a BHQ1 quenching group; the 5' ends of the nucleotide sequences eight to eleven are respectively The VIC fluorescent group is connected, and the 3' end is respectively connected with the BHQ1 quenching group; the 5' ends of the nucleotide sequences twelve to fourteen are respectively connected with the ROX fluorescent group, and the 3' end is respectively connected with the BHQ2 quenching group; The 5' ends of the nucleotide sequences fifteen to seventeen 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. ...

Embodiment 2

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

[0072] Table 7 Clinical sample test results

[0073]

[0074]

[0075]

[0076]

[0077]

[0078] The data in Table 7 shows that the detection results of the detection method of the present invention are completely consistent with the detection results 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%. Very high and can be used for clinical testing.

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Abstract

The invention discloses a spinal muscular atrophy detection method, wherein the spinal muscular atrophy detection method includes extraction of sample genomic DNA, design and synthesis of amplification primers and detection probes, fluorescence quantitative PCR reaction, relative gene copy number Calculation and analysis of base mutation levels. The spinal muscular atrophy detection method of the invention can realize the simultaneous detection of the relative copy number of SMN1, the relative copy number of SMN2 and the point mutation of SMN1, the detection is comprehensive, the steps are simple, and the clinical application and popularization are easy.

Description

technical field [0001] The invention relates to the technical field of gene detection, in particular to a detection method for spinal muscular atrophy. Background technique [0002] Spinal Muscular Atrophy (SMA) is a relatively common recessive hereditary disease. According to the age of onset and clinical manifestations of SMA patients, they are 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, namely SMN1 on the telomere side and SMN2 on the centromeric 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 SMN1 exon 7, and a very small part is caused by the deleti...

Claims

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Application Information

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Patent Type & Authority Patents(China)
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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