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F9 gene copy number variation detection kit

A gene copy number and mutation detection technology, applied in the biological field, can solve the problems of difficult establishment of MLPA method, inability to guarantee the reliability of the results, unstable detection results, etc., and achieve good results, improved efficiency, and high accuracy

Active Publication Date: 2014-09-17
RUIJIN HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE +1
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  • Abstract
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  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

Although MLPA is very mature in diagnosing gene-specific exon CNVs, there are still some outstanding problems in MLPA
First of all, it has relatively high requirements for the DNA quality of the tested specimens. Common DNA extraction methods cannot meet the experimental requirements. It is necessary to purchase a commercial kit with better quality for extraction, which increases the cost of the experiment. Comparing specimens must use the same DNA extraction method
Secondly, the MLPA method is not easy to establish. We have also tried to establish this method, but after many attempts, we did not get ideal and accurate results.
We have also purchased commercial kits, and the test results are unstable each time, so the reliability of the results cannot be guaranteed

Method used

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  • F9 gene copy number variation detection kit
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  • F9 gene copy number variation detection kit

Examples

Experimental program
Comparison scheme
Effect test

Embodiment

[0100] refer to figure 1 As shown, using the F9 gene copy number variation detection kit of the present invention, a hemophilia B patient and a suspected carrier were used to detect the copy number of the F9 gene.

[0101] 1. Test samples: Sample A is a male clinically diagnosed with hemophilia B, and sample B is a female suspected of being a carrier of hemophilia B through clinical analysis.

[0102] 2. Detection method

[0103] It mainly includes the following steps:

[0104] The DNA of male and female samples to be tested and a male reference sample with a known target site copy number were accurately quantified with Biophotomerterplus (Eppendor) (nucleic acid protein analyzer), and then diluted to 20ng / μl as the DNA sample to be tested stand-by.

[0105] F9 Gene Copy Number Variation Detection Kit provides the following reagents: 2×PCR buffer, competitive DNA, PCR primer mixture, TaqDNA polymerase.

[0106] Multiplex PCR system (20μl) configuration:

[0107]

[010...

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Abstract

The invention discloses an F9 gene copy number variation detection kit which comprises a 2*PCR (Polymerase China Reaction) buffer solution, competitive DNA, PCR primer mixed liquor and Taq DNA polymerase. An AccuCopy technology has high precision, variable coefficient of being less than 5% and high result accuracy. Therefore, according to the F9 gene copy number variation detection kit developed by the AccuCopy technology, about 15 patients suffering hemophilia B with large deletion mutation is detected and found, and the clinical application effect is good.

Description

technical field [0001] The invention relates to the field of biotechnology, is applied to biological science research and clinical molecular diagnosis, and specifically relates to a F9 gene copy number variation detection kit. Background technique [0002] Hemophilia B (HB) is a clinically common hereditary bleeding disorder, mainly caused by F9 gene mutations leading to qualitative or quantitative defects in blood coagulation factor IX (FIX), resulting in abnormal blood coagulation function in the body, and the incidence in males is about 1 / 30,000. According to the FIX activity in plasma, HB can be divided into three types: mild (>5%), medium (1-5%) and heavy (<1%). Severe patients showed spontaneous joint bleeding, muscle bleeding and internal organ bleeding, etc., and mild patients showed difficult bleeding after trauma. Therefore, the disease has high morbidity and mortality. Alternative therapy is currently the only effective treatment, and preparations mainly ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
CPCC12Q1/6858C12Q2531/113C12Q2537/16C12Q2565/125
Inventor 王学锋姜正文丁秋兰张希戴菁姚忻岑陆晔玲林琳
Owner RUIJIN HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
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