Detection kit for F11gene copy number variation

A technology for gene copy number and variation detection, applied in the biological field, to achieve the effect of good effect, improved efficiency and high accuracy

Active Publication Date: 2014-10-29
RUIJIN HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0010] As a new method for detecting CNV, AccuCopy is currently used in a small range, but the method is simple to operate, does not require high DNA quality, and requires a very small amount of DNA sample

Method used

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  • Detection kit for F11gene copy number variation
  • Detection kit for F11gene copy number variation
  • Detection kit for F11gene copy number variation

Examples

Experimental program
Comparison scheme
Effect test

Embodiment

[0137] refer to figure 1 As shown, using the F11 gene copy number variation detection kit of the present invention, a hemophilia C patient and a suspected carrier were used to detect the copy number of the F11 gene.

[0138] 1. Test samples: Sample A is a male clinically diagnosed with hemophilia C, and sample B is a female suspected of being a carrier of hemophilia C through clinical analysis.

[0139] 2. Detection method

[0140] It mainly includes the following steps:

[0141] The DNA of male and female samples to be tested and a male reference sample with a known copy number of the target site were accurately quantified with Biophotomerterplus (Eppendor) (nucleic acid and protein analyzer), and then diluted to 20ng / μl as the DNA sample to be tested stand-by.

[0142] F9 Gene Copy Number Variation Detection Kit provides the following reagents: 2×PCR buffer, competitive DNA, PCR primer mixture, TaqDNA polymerase.

[0143] Multiplex PCR system (20μl) configuration:

[01...

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Abstract

The invention discloses a detection kit for F11gene copy number variation. The detection kit comprises 2*PCR buffer liquor, competitive DNA, PCR primer mixed liquor and Taq DNA polymerase. Only a few base differences are provided between a target gene segment and internal contrast DNA in the target gene segment, so that amplification efficiency of two templates shows high consistency, and therefore, final amplification products truly reflect concentration proportion of two templates before amplification. According to pretest results, standard deviation for repeating one competitive PCR reaction by three times is within 5%; moreover, if the target gene segment and the internal contrast DNA are mixed according to different dilution gradients to carry out competitive PCR, dependency of a ratio of a sample peak to an internal contrast peak area and an original concentration ratio of the two templates is over 99.9%. And therefore, the detection kit for F11gene copy number variation developed based on the principle and the technology is quick, high in accuracy and the like, and has a good clinical value.

Description

technical field [0001] The invention relates to the field of biotechnology, and is applied to biological science research and clinical molecular diagnosis, in particular to a F11 gene copy number variation detection kit. Background technique [0002] Hereditary coagulation factor XI (FXI) deficiency, also known as hemophilia C, is a relatively rare group of inherited bleeding disorders. The disease is an autosomal recessive genetic disorder that can affect both men and women. The incidence rate of this disease in the population is about one in 100,000. With the improvement of detection level, the incidence rate of the disease in the population has increased, especially in the Jewish population, and the heterozygous mutation carrier can be as high as 10%. [0003] The clinical manifestations of hereditary FXI deficiency are diverse, and patients have bleeding tendency, but most patients have no spontaneous bleeding, mainly manifested as increased bleeding after trauma or su...

Claims

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Application Information

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IPC IPC(8): C12Q1/68
CPCC12Q1/6858C12Q2531/113C12Q2537/143C12Q2537/16
Inventor 王学锋姜正文丁秋兰王鹏戴菁张希陆晔玲林琳
Owner RUIJIN HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
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