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Kit for detecting copy number variation of OTC gene

A gene copy number and kit technology, applied in the field of biomedical detection, can solve the problems of high sensitivity and unsuitability for high-throughput detection, and achieve the effect of low pre-experimental cost

Pending Publication Date: 2021-02-05
广西金域医学检验实验室有限公司
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

This method is simple and easy to operate, with high sensitivity, good repeatability, fast speed and less pollution, but it is not suitable for high-throughput detection of large samples

Method used

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  • Kit for detecting copy number variation of OTC gene
  • Kit for detecting copy number variation of OTC gene
  • Kit for detecting copy number variation of OTC gene

Examples

Experimental program
Comparison scheme
Effect test

Embodiment Construction

[0041] 1. Primer test

[0042] 1) Linear DNA preparation (Table 1): gradiently dilute the standard Human genetic DNA (253ng / ul), take 13ul and add 37ul ddH 2 O, vortex, micro separation, the concentration is 66ng / uL.

[0043] Then 10-fold serial dilution, take 20ul and add to 180ul ddH 2 In O, it is necessary to fully vortex and mix each time before proceeding to the next gradient dilution.

[0044] Table 1

[0045]

[0046] 2) Experimental system (Table 2)

[0047] Table 2

[0048]

[0049] 3) Amplification program (Table 3)

[0050] table 3

[0051]

[0052] 4) Analysis of results

[0053] ABI7500 settings:

[0054] Experiment Prop selects Quantutation–Relative Standard Curve and SYBRGreen Reagents.

[0055] The result is as follows:

[0056] Primer OTC-L: the amplification efficiency of the primer is 100%, and the peak of the melting curve is single;

[0057] Primer OTC-M: the amplification efficiency of the primer is 98.2%, and the peak of the melting cur...

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Abstract

The invention discloses a kit for detecting copy number variation of OTC gene. The kit comprises the following primer pairs: Q-OTC-LF, AcacagcggtggagcttgCcAT; Q-OTC-LR, ActgcagggcagggtgtagCTgc; Q--OTC-MF, CCTTAGTAATTGCTACACATATCCG; Q-OTC-MR, CcgatccagctgagggtaagTGc; Q-OTC-RF, CCTAATTCACCTTCTCTAGGTCC; and Q-OTC-RR, GAggtgagtaatctgtcagcTCgG. The method of the invention is simple, rapid, low in pre-experiment cost, and suitable for small-batch detection and verification.

Description

technical field [0001] The invention belongs to the technical field of biomedical detection, and in particular relates to a kit for detecting OTC gene copy number variation. Background technique [0002] Pathogenic mutations in the OTC gene cause ornithine transcarbamylase deficiency and are usually inherited in an X-linked recessive manner. The disease mainly manifests as urea cycle metabolic disorder, mainly manifested as the triad of hyperammonemia, encephalopathy and respiratory alkalosis. Neonatal onset may include reluctance to eat, poor control of respiratory rate or body temperature, coma, etc., which may lead to seizures, growth retardation, and progressive liver damage. Adult onset can manifest as altered mental status, irregular behavior or decreased consciousness, headache, vomiting, and seizures. About 80% of patients with OTC deficiency have mutations in OTC gene sequencing, and 5%-10% of patients with OTC deficiency have deletions / duplications and complex ge...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12Q1/686C12N15/11
CPCC12Q1/6883C12Q1/686C12Q2600/156C12Q2561/113C12Q2563/107C12Q2545/114
Inventor 谭兵健李慧源余艳李淼龚强陈鹏唐春燕
Owner 广西金域医学检验实验室有限公司
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