Fluorescent quantitative PCR kit for human spinal muscular atrophy-related gene deletion detection

A technology for spinal muscular atrophy and gene deletion, which is used in the determination/examination of microorganisms, DNA/RNA fragments, recombinant DNA technology, etc. It can solve the problems of homozygous deletion and heterozygous mutation, and achieve the effect of avoiding interference.

Inactive Publication Date: 2018-10-12
JIANGSU YINUOWAN CELL CLINIC CO LTD
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  • Abstract
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Problems solved by technology

Although most patients are due to homozygous deletion of SMN1 gene, some SMA patients are caused by compound heterozygous mutation of SMN1 gene
At present, the methods used for SMA gene detection include restriction

Method used

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  • Fluorescent quantitative PCR kit for human spinal muscular atrophy-related gene deletion detection
  • Fluorescent quantitative PCR kit for human spinal muscular atrophy-related gene deletion detection
  • Fluorescent quantitative PCR kit for human spinal muscular atrophy-related gene deletion detection

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Embodiment Construction

[0051] In order to make the object, technical solution and advantages of the present invention clearer, the following will be further described in detail in conjunction with the embodiments. The specific embodiments described here are only used to explain the present invention, not to limit the present invention. In the following examples, DNA polymerase was purchased from Takara Company (PCR buffer, dNTP, MgCl 2 All provided together with the enzyme), the primers, probes and plasmids used were synthesized by Suzhou Synbio Biotechnology Co., Ltd., and the blood genomic DNA extraction kit was purchased from Tiangen Biochemical Technology Co., Ltd.

[0052] Sample DNA was prepared using the Blood Genomic DNA Extraction Kit in the following examples.

[0053] In Example 1, on the basis of conventional PCR primer design, the present invention artificially sets a mismatched base, which enhances the specificity of the primer and effectively prevents non-specific amplification.

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Abstract

The invention discloses a fluorescence quantitative PCR kit for human spinal muscular atrophy-related gene deletion detection, wherein the kit is provided with a Taqman probe fluorescence quantitativePCR method. A seventh exon and an eighth exon of the SMN1 gene, and a specific primer and the probe of the internal reference gene RPP40 are designed respectively in the kit. The kit can detect the seventh and eighth exons of the SMN1 gene intuitively, accurately and quickly, thereby the distinction between the SMA normal persons and the patients can be identified, and the device is suitable forpopularization and application as auxiliary diagnosis of human spinal muscular atrophy.

Description

technical field [0001] The invention relates to the field of molecular detection, and relates to a primer probe set, a kit and a method for detecting the deletion of the seventh and eighth exons of the human spinal muscular atrophy SMN1 gene. Background technique [0002] Spinal muscular atrophy (SMA) is a common chromosomal recessive genetic disease. The degeneration of the anterior horn cells of the spinal cord leads to muscle weakness and atrophy. The clinical manifestations are progressive and symmetrical limb and trunk muscle weakness and atrophy. The patient eventually died of respiratory failure and lung infection, ranking second among fatal autosomal genetic diseases. The incidence rate of the disease in newborn babies is about 1 / 6000 to 1 / 10000, and the carrier rate of the normal population is about 1 / 40 to 1 / 50. According to the patient's age of onset and disease symptoms, SMA can be divided into acute infantile type (type I), chronic infantile type (type II), j...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 方月曾骥孟龚剑唐乃平蒙明慧
Owner JIANGSU YINUOWAN CELL CLINIC CO LTD
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