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A detection system and detection kit for genes related to spinal muscular atrophy

A spinal muscular atrophy and gene technology, applied in the field of biomedicine, can solve the problems of missed detection of pathogenic mutation carriers, unfeasible cost and workload, avoid contamination and sample confusion, reduce detection costs, Easy-to-use effects

Active Publication Date: 2021-10-12
PLA NAVY GENERAL HOSIPTAL
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, methods such as carrier screening and sequencing are not feasible in terms of cost and workload
If only exon 7 of SMN1 is tested, a considerable proportion of pathogenic mutation carriers will be missed

Method used

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  • A detection system and detection kit for genes related to spinal muscular atrophy
  • A detection system and detection kit for genes related to spinal muscular atrophy
  • A detection system and detection kit for genes related to spinal muscular atrophy

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0041] Embodiment one, detection system

[0042] The main components of the PCR amplification system include hot start DNA polymerase, UDG enzyme, dNTP, amplification buffer and primers for each site, etc.

[0043] According to the principle of allele characteristic PCR, each specific primer can only be combined with the DNA template of the corresponding genotype and amplified. For this purpose, a series of specific changes or modifications were made to each primer. In order to coordinate amplification efficiency, improve product peak shape, and facilitate capillary electrophoresis detection, a series of specific changes or modifications were also made to the primers. The improved and optimized primer sequences used in this example are as follows:

[0044] Exon3 283G / C site:

[0045] Forward common primer: 5'-FAM-ACCTCCCCACTGATCAAAACG-3'

[0046]Reverse wild type primer: 5'-ATGGCAGAACATTTGTAC C C-3'

[0047] Reverse mutant primer:

[0048] Exon3 305G / A site:

[0049]...

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Abstract

The invention relates to a detection system and a detection kit for genes related to spinal muscular atrophy, belonging to the clinical molecular diagnosis technology in the field of biomedicine. The detection system of the present invention can simultaneously amplify and detect 22 SMN gene pathogenic mutation sites and 3 control sites in a multiplex multiplex PCR amplification system. The detection system provided by the present invention has high sensitivity and high resolution, and can clearly and effectively distinguish 1bp differences within the commonly used detection range of 100-500bp; the detection speed is fast, requires less operation, and can be automatically detected in large quantities, greatly Reduce operating intensity and detection cost, and the results can be obtained within 4 hours. Its test samples can be amplified using blood, blood cards and other test materials, eliminating the steps of DNA extraction, making the operation easier and suitable for batch operations. As a supplement to the detection of exon 7 of SMN1, this detection has important application value for SMA research and carrier screening.

Description

technical field [0001] The invention relates to a detection system and a detection kit for genes related to spinal muscular atrophy, belonging to the clinical molecular diagnosis technology in the field of biomedicine. Background technique [0002] Spinal muscular atrophy (SMA) is a relatively common genetic neuromuscular disease. Typical SMA is autosomal recessive, and patients develop in infancy. It is characterized by degeneration and loss of motor neurons in the anterior horn of the spinal cord. The specific clinical manifestations are progressive, symmetrical limb trunk and proximal muscle weakness and atrophy. SMA can be divided into three types according to the severity and age of onset: Type I (infantile type) is the most severe type, usually onset before 6 months after birth, unable to sit or stand independently throughout life, and most children are 2 years old In the past, they would die from respiratory failure; type II (intermediate type) usually develops 6 to ...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C12Q1/6858
CPCC12Q1/6858C12Q1/6883C12Q2600/156C12Q2600/16C12Q2531/113C12Q2565/125C12Q2537/143
Inventor 朱海燕
Owner PLA NAVY GENERAL HOSIPTAL