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Detection system of SMA (spinal muscular atrophy) related gene and detection kit

A spinal muscular atrophy, a systematic technology, applied in the field of biomedicine, can solve the problems of missed detection of pathogenic mutation carriers, cost and workload are not feasible, to avoid sample confusion, reduce detection costs, and reduce operations The effect of intensity

Active Publication Date: 2019-01-04
PLA NAVY GENERAL HOSIPTAL
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  • Abstract
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  • 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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  • Detection system of SMA (spinal muscular atrophy) related gene and detection kit
  • Detection system of SMA (spinal muscular atrophy) related gene and detection kit
  • Detection system of SMA (spinal muscular atrophy) related gene and detection kit

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 of an SMA (spinal muscular atrophy) related gene and a detection kit and belongs to the clinical molecular diagnosis technology in the biomedical field. Thedetection system can simultaneously amplify and detect 2 SMN gene pathogenic mutation sites and 3 contrast sites in one multiple compound PCR amplification system. The detection system has high sensitivity and high resolution and can clearly and effectively distinguish 1 bp difference in the general 100-500 bp detection range; the detection speed is high, required operation is few, automatic massdetection can be realized, the operation intensity and detection cost can be greatly reduced, and results can be obtained within 4 h. Detection samples can be amplified by blood, blood cards and other detection materials, a DNA extraction step is omitted, the operation is more convenient, and the system is suitable for mass operation. As supplement of detection of SMN1 seventh exons, the detection has important application values for SMA study 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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IPC IPC(8): C12Q1/6883C12Q1/6858
CPCC12Q1/6858C12Q1/6883C12Q2600/156C12Q2600/16C12Q2531/113C12Q2565/125C12Q2537/143
Inventor 朱海燕
Owner PLA NAVY GENERAL HOSIPTAL
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