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Detection method of SMN1 gene mutation and kit

A detection method and kit technology, applied in the biological field, can solve the problems of indistinguishable fragments, difficult to distinguish, limited detection mutation sites, etc., and achieve the effect of high throughput, high clinical application value, and automatic detection.

Active Publication Date: 2020-05-19
INNOVATION BIOMEDICAL CO LTD
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  • Abstract
  • Description
  • Claims
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AI Technical Summary

Problems solved by technology

However, due to the close proximity of wild and mutant primers, it is not easy to distinguish; there is a small degree of fragment discrimination between different sites; limited by the length of the detection interval of the capillary electrophoresis tube, the detection of mutation sites is limited.

Method used

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  • Detection method of SMN1 gene mutation and kit
  • Detection method of SMN1 gene mutation and kit
  • Detection method of SMN1 gene mutation and kit

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0116] Using artificially constructed point mutation plasmids to test the point mutation detection scheme, 19 point mutation plasmids of the aforementioned 19 point mutations were artificially constructed, and some of the point mutation plasmids are now verified.

[0117] 1. Sample preparation: dilute wild-type plasmid and mutant plasmid samples to 8000 copies / μl to simulate human genomic DNA, and use them as reaction templates for reaction 1 and reaction 2 respectively; mix mutant plasmid and wild-type plasmid to simulate point mutation carrier samples, Use this as the reaction template for reaction three.

[0118] 2. Multiplex PCR reaction system configuration, the total reaction volume is 10 μL, as shown in the following table:

[0119]

[0120]

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Abstract

The invention provides a detection method of SMN1 gene mutation and a kit. The detection method of the SMN1 gene mutation and the kit disclosed by the invention are complements for a SMN1 gene deletion type gene detection technology clinically at present. SMA patients carried with point mutation locus in the scheme and SMA point mutation carriers can be effectively screened; and the flux of a nucleic acid flight mass spectrometry platform used in the scheme is high, automatic detection can be realized, and the detection method is convenient for clinically carrying out massive population screening and has a very high clinical application value on further realization of SMA prevention.

Description

technical field [0001] The invention specifically relates to the field of biotechnology, in particular to a detection method and kit for SMN1 gene mutation. Background technique [0002] Spinal muscular atrophy (SMA) is one of the major genetic diseases causing death in infants and young children. It is an autosomal recessive neurodegenerative disease characterized by degeneration of spinal motor neurons, skeletal muscle atrophy and powerless. The incidence of spinal muscular atrophy in China is 1 / 6000-1 / 10000, and the carrier frequency of different populations in the world is 1 / 40-1 / 50. The causative gene of spinal muscular atrophy is located in the motor neuron survival gene 1 (survival motor neuron, SMN1) in the chromosome 5q13 region, and the detection of the copy number of SMN1 gene is a key method for the clinical diagnosis of spinal muscular atrophy. 95% of patients with spinal muscular atrophy have homozygous deletion or heterozygous deletion with point mutation of...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6858
CPCC12Q1/6858C12Q2531/113C12Q2537/143C12Q2547/101C12Q2565/627C12Q2533/101C12Q2545/113C12Q2521/525Y02A50/30
Inventor 丁春明金胜男金伟江
Owner INNOVATION BIOMEDICAL CO LTD
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