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Method and kit for detecting frameshift mutation of human DEFB126 gene

A technology for detection kits and frameshift mutations, which is applied in biochemical equipment and methods, recombinant DNA technology, and microbial measurement/inspection, etc., to achieve the effects of simple and clear judgment criteria, avoiding typing errors, and accurate results

Pending Publication Date: 2022-06-10
上海市生物医药技术研究院 +1
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  • Abstract
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Problems solved by technology

[0004] In 2011, Tollner et al. first discovered that there was a two-nucleotide (CC / -) deletion mutation in the coding region of the human DEFB126 gene (SNP number rs11467417), Causes problems in protein production, that is, homozygous mutation (hereinafter referred to as 2DD) males, the expression of DEFB126 protein on their sperm varies from high to low, and in some patients, the expression of DEFB126 protein is even undetectable
Perhaps, the 2DD or 4DD type of DEFB126 gene affects various aspects of sperm functions, thereby causing infertility

Method used

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  • Method and kit for detecting frameshift mutation of human DEFB126 gene
  • Method and kit for detecting frameshift mutation of human DEFB126 gene
  • Method and kit for detecting frameshift mutation of human DEFB126 gene

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Embodiment 1

[0053] Design specific primers (specific primer sequences) based on rs11467417 and the sequences on both sides of the rs11467497 site; design specific probes (specific probe sequences and wild-type match), and label the VIC fluorescent group on the probe; according to the adjacent sequence of the rs11467497 site and the sequence of the site before and after the mutation, the probes were designed respectively (sequences of the probes designed separately), and the pre-mutation sequence probe was labeled with CY5 Fluorophore, the post-mutation sequence probe is labeled with a FAM fluorophore. Simultaneously amplify the sequence fragments where the two frameshift mutation sites are located by multi-channel real-time fluorescent PCR method, then analyze the melting curve of the amplified fragments and read the Tm value of each fluorescent channel, and finally judge each channel according to the Tm value of each channel. Genotypes of frameshift mutation sites.

[0054] Table 1 Kit ...

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Abstract

The invention relates to a detection kit and method for frame-shift mutation of a human beta defensin 126 gene. The detection kit is used for detecting genotypes of frame-shift mutation sites rs11467417 and rs11467497 of the human beta defensin 126 gene (DEFB126). The kit comprises the following components: (1) specific primers which are designed according to sequences on two sides of the rs11467417 site; (2) a specific primer which is designed according to sequences on two sides of the rs11467497 site; (3) a specific probe which is designed according to an adjacent sequence of the rs11467417 site; (4) probes respectively designed according to the adjacent sequence of the rs11467497 site and the site sequences before and after mutation; and (5) a PCR reaction reagent. According to the kit and the detection method disclosed by the invention, six genotypes of the DEFB126 gene (rs11467417 and rs11467497) can be accurately detected by utilizing one PCR (Polymerase Chain Reaction) reaction and three probes.

Description

technical field [0001] The invention relates to a method and a kit for detecting frameshift mutations of human DEFB126 gene, which are used for detecting the genotypes of frameshift mutation sites rs11467417 and rs11467497 of human beta defensin 126 gene (DEFB126). Background technique [0002] β-defensin (DEFB) is an important class of innate immune molecules. There are 39 DEFBs found in humans, and they are mainly expressed in epididymis. [0003] Human DEFB126 is a cysteine-rich secreted glycoprotein secreted by the primary epididymis epithelial cells covering the entire surface of spermatozoa. Different from other DEFB family members, DEFB126 protein is a highly glycosylated short peptide with multiple O-link oligosaccharide modification sites at its C-terminus. Studies have found that during the process of sperm passing through the epididymis, saliva Acid residues or acidic sperm antigens will be adsorbed on the surface of the sperm, making the surface of the sperm ric...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/6883C12Q1/6858C12N15/113
CPCC12Q1/6883C12Q1/6858C12Q2600/156C12Q2531/113C12Q2563/107C12Q2521/531
Inventor 施惠娟雷向东
Owner 上海市生物医药技术研究院
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