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Kit for detecting copy number variation of gene MECP2

A gene copy number, Q-MECP2-LF technology, applied in the field of biomedical detection, can solve the problems of high sensitivity, unsuitable for high-throughput detection, etc., and achieve the effect of low pre-experimental cost

Pending Publication Date: 2021-03-19
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 gene MECP2
  • Kit for detecting copy number variation of gene MECP2
  • Kit for detecting copy number variation of gene MECP2

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 2In 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 MECP2-L: the amplification efficiency of the primer is 107.2%, and the peak of the melting curve is single;

[0057] Primer MECP2-M: the amplification efficiency of the primer is 101.4%, and the peak of the mel...

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Abstract

The invention discloses a kit for detecting copy number variation of a gene MECP2. The kit comprises the following primer pairs of Q-MECP2-LF: CATCACAGCCAATGACGCCC, Q-MECP2-LR: accccgcacggccgacgtCG, Q-MECP2-MF: CAAAATGTCCCAAATAGCCCACG, Q-MECP2-MR: CAAAgcaggaactggtgagAcAg, Q-MECP2-RF: CTGCCTCTGCTCACTTGTTGAG, and Q-MECP2-RR: cctggaggtcctggtcttcAgTc. The kt 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 the variation of the MECP2 gene copy number. Background technique [0002] MECP2 duplication syndrome is a serious neurodevelopmental disorder characterized by early-onset hypotonia, feeding difficulties, gastroesophageal reflux and constipation, psychomotor delay leading to severe intellectual disability, language impairment, progressive Convulsions, recurrent respiratory infections, and seizures. The pathogenic mechanism of MECP2 duplication syndrome is heterozygous whole-gene duplication of MECP2 gene. The disease is mainly inherited in an X-linked manner. Most male patients inherit it from their mothers (heterozygous variant carriers), and a few are de novo mutations. Female carriers are usually asymptomatic, but there have been reports in the literature that female carriers exhibit mild intellectual disability and symptoms simil...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12Q1/6858C12N15/11
CPCC12Q1/6883C12Q1/6858C12Q2600/156C12Q2600/166C12Q2531/113C12Q2545/101C12Q2537/16C12Q2563/107
Inventor 代冰周梅华余艳龚强陈鹏唐春燕谭兵健
Owner 广西金域医学检验实验室有限公司
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