Detection method of SNP site of SMA gene

A detection method and site technology, which can be used in the determination/inspection of microorganisms, biochemical equipment and methods, etc., and can solve the problems of low sensitivity, high cost, and poor efficiency.

Pending Publication Date: 2019-12-03
FENG CHI BIOTECH CORP
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Problems solved by technology

[0007] The current methods for detecting SMN1 gene defects are quantitative polymerase chain reaction (real-time PCR) or d

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  • Detection method of SNP site of SMA gene
  • Detection method of SNP site of SMA gene
  • Detection method of SNP site of SMA gene

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Embodiment Construction

[0042] Please refer to figure 1 , which is a schematic diagram of the SNP (Singlenucleotide polymorphisms, single nucleotide polymorphisms) site of the SMA gene (Spinal Muscular Atrophy gene). The SMA gene consists of two genes, the SMN1 gene and the SMN2 gene (Survival Motor Neuron Gene), both of which encode the SMN protein. However, there are five nucleotide sequence differences between the SMN1 gene and the SMN2 gene. Glycine sequence differences are called SNP sites, as in figure 1 As shown in , they are respectively located in intron 6, exon 7, intron 7 and exon 8.

[0043] In interpolation 6, the base of the SNP site of the SMN1 gene is G, and the base of the SNP site of the SMN2 gene is A; in exon 7, the base of the SNP site of the SMN1 gene is C, and the base of the SNP site of the SMN2 gene is C. The base of the SNP site of the gene is T; in interpolation 7, the base of the first SNP site of the SMN1 gene is A, the base of the second SNP site is A, and the base of ...

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Abstract

The invention provides a detection method of an SNP (single nucleotide polymorphism) site of an SMA gene. The method comprises the following steps of (S10) performing a polymerase chain reaction (PCR), and amplifying a nucleic acid fragment including an SNP site; (S20) performing a dephosphorylation reaction on the nucleic acid fragment; (S30) performing an extension reaction on the nucleic acid fragment, wherein an extension primer is used for identifying the position of the SNP site, and single nucleotide which is in base complementarity with the SNP site is extended at a 3' end of the extension primer so that an extended extension primer is obtained; (S40) performing a purifying reaction to purify the extended extension primer; and(S50) detecting the size of the molecular weight of theextended extension primer, and according to the size of the molecular weight, determining the kind of bases of the extended single nucleotide, so that according to the kind of the bases of the SNP site in the SMA gene (including an SMN1 gene and an SMN2 gene), determining whether SMN1 gene homozygosis deletion occurs or not.

Description

technical field [0001] The invention relates to a detection method for gene defect, especially a detection method for SNP (single nucleotide polymorphism) site of SMA gene. Background technique [0002] The cause of Spinal Muscular Atrophy is the decline and degeneration of the motor nerves in the anterior horn of the spinal cord due to genetic defects, resulting in gradual weakness and paralysis of the muscles, accompanied by symptoms of muscle atrophy. The muscle atrophy is symmetrical, The lower extremities are more severe than the upper extremities and the proximal end of the body is more susceptible than the distal end. So far there is no treatment. It is divided into three types according to the severity: [0003] Severe spinal muscular atrophy (Werdnig-Hoffmann Disease, SMA type I): About one in every 20,000 babies is the most common type. In the womb or within three months after birth, the baby will experience symptoms such as weakness of limbs, weak cry and difficu...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12Q1/6858
CPCC12Q1/6883C12Q1/6858C12Q2600/156C12Q2563/107C12Q2531/113
Inventor 张宏名林建兴张书铭
Owner FENG CHI BIOTECH CORP
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