Kit for detecting SCN1A gene copy number variation

A gene copy number, SCN1A.1.R technology, applied in the field of biomedical detection, can solve the problem of not finding the report of SCN1A gene copy number variation

Pending Publication Date: 2022-03-25
CHANGSHA KINGMED MEDICAL DIAGNOSTICS INST
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Some studies have also used QPCR method and next-generation sequencing to detect SCN1A point mutations, but there is no report on the detection of SCN1A gene copy number variation by QPCR method

Method used

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  • Kit for detecting SCN1A gene copy number variation
  • Kit for detecting SCN1A gene copy number variation
  • Kit for detecting SCN1A gene copy number variation

Examples

Experimental program
Comparison scheme
Effect test

Embodiment Construction

[0048] 1. Primer test

[0049] 1) Linear DNA preparation (Table 1): serially dilute the standard HUMAN GENETIC DNA (253NG / UL), take 1UL and add 24.3UL DDH 2 O, vortex, micro separation, the concentration is 10NG / UL.

[0050] Then 10-fold serial dilution, take 10UL and add to 90UL DDH 2 In O, it is necessary to fully vortex and mix each time before proceeding to the next gradient dilution.

[0051] Table 1

[0052]

[0053]

[0054] 2) Experimental system (Table 2)

[0055] Table 2

[0056]

[0057] 3) Amplification program (Table 3)

[0058] table 3

[0059]

[0060] 4) Analysis of results

[0061] ABI7500 settings:

[0062] EXPERIMENT PROP chooses QUANTUTATION–RELATIVE STANDARD CURVE AND SYBRGREEN REAGENTS.

[0063] The result is as follows:

[0064] Primer SCN1A-1: the amplification efficiency of the primer is 104.87%, and the peak of the melting curve is single;

[0065] Primer SCN1A-2: The amplification efficiency of the primer is 90.89%, and the pea...

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Abstract

The invention discloses a kit for detecting the copy number variation of an SCN1A gene. The kit contains SCN1A. F, SCN1A. R, SCN1A. 2. F, SCN1A. 2. R, SCN1A. 3. F, SCN1A. 3. R, SCN1A. 4. F, SCN1A. 4. R, SCN1A. 6. F, SCN1A. 6. R, SCN1A. 7. F, SCN1A. 8. R, SCN1A. 9. F, SCN1A. 9. R, SCN1A. 10. F, SCN1A. 10. R, SCN1A. 1. F, SCN1A. 1. F and SCN1A. 1. F, and SCN1A. 1. F and SCN1A. 1. F.

Description

technical field [0001] The invention belongs to the technical field of biomedical detection, and in particular relates to a kit for detecting the variation of the copy number of SCN1A gene. Background technique [0002] Epilepsy is a group of syndromes of central nervous system dysfunction caused by highly synchronized abnormal discharge of brain neurons, characterized by paroxysmal, transient, repetitive and stereotyped. The increased excitability of neuronal cell membranes is easy to form epileptic discharges, which is the pathophysiological basis of epilepsy. Studies have found that more and more single gene mutations lead to epilepsy, most of these genes encode ion channels or receptors, including voltage-gated sodium, potassium, calcium, chloride ion channels and acetylcholine receptors and γ-aminobutyric acid receptors (GABA). The voltage-gated sodium channel is mainly responsible for controlling the excitability of cells, and its structure and function abnormalities...

Claims

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Application Information

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IPC IPC(8): C12Q1/6883C12Q1/686C12N15/11
CPCC12Q1/6883C12Q1/686C12Q2600/156C12Q2561/113C12Q2563/107C12Q2545/114
Inventor 朱加琳陈鹏谭兵健唐春燕
Owner CHANGSHA KINGMED MEDICAL DIAGNOSTICS INST
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