Detection kit for F11gene copy number variation

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...

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 for each analysis, only about 10ng, while MLPA 100ng of high-quality DNA is required, and the entire reaction is completed in less than 4 hours, which is much lower than the 24-hour detection time of MLPA

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