Reagent case for detecting 109G >T mutation of large vestibular aqueduct related gene SLC26A4
A SLC26A4, kit technology, applied in recombinant DNA technology, microbial assay/inspection, DNA/RNA fragments, etc., can solve problems such as changes in membrane labyrinth structure
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Embodiment 1
[0059] [Example 1] Detection method for 109G>T heterozygous mutation of SLC26A4 gene
[0060] 1. Preparation of blood sample DNA of the subject to be tested
[0061] 1. Research objects: 89 patients with enlarged vestibular aqueduct collected from the deaf outpatient clinic, and 80 normal controls. All participants were investigated in detail about their medical history and family history, and a physical examination was performed on them. The otological examination included otoscopy and audiological evaluation. After signing the informed consent form, 5-10ml blood samples were collected from each person.
[0062] 2. Genomic DNA extraction: using phenol-chloroform extraction method.
[0063] first day
[0064] 1) Anticoagulant blood was diluted 1-fold with PBS.
[0065] 2) Add 2 times the volume of lymphatic separation solution (18°C-28°C) into the centrifuge tube, spread a layer of 1 times the volume of diluted blood on top, centrifuge at 1000×g at room temperature for 20 ...
Embodiment 2
[0142] [Example 2] Research on the evolution of mutation sites
[0143] Mutation analysis: sequence comparison analysis was performed using SeqmanTM software in the DNAStar5.0 (Lasergene Inc.) software package. The sequence obtained by sequencing was compared with the standard sequence retrieved by NCBI to find out the mutant sequence and the mutation site (109G>T, E37X).
[0144] Evolutionary study: The 109G>T mutation is located at the amino terminal of Pendrin, which terminates the amino acid code at position 37, and the subsequent 734 amino acids are lost. This mutation must affect the structure and function of Pendrin.
[0145] Kit for detecting SLC26A4 gene mutation related to enlargement of vestibular aqueduct and its application
Embodiment 3
[0147] The test kit for detecting SLC26A4 gene mutation can be prepared as a separate test kit for detecting each single mutation site as required, or can be prepared as a test kit for detecting multiple or all SLC26A4 gene mutation sites, as follows to detect 11 of the present invention The kit for the mutation site is used as an example to illustrate:
[0148] 1. The kit contains:
[0149] (1) Primers for amplification
[0150] The aforementioned 11 pairs of primers designed to detect the 13 mutation sites of the SLC26A4 gene, or other usable primers designed for the 13 mutation sites;
[0151] Note: SLC26A4 gene sequence retrieval number: Gene ID: 5172
[0152] Other reagents that may optionally be included in the kit include the following:
[0153] (2) Taq enzyme 5U / μl for PCR amplification
[0154] (3) 10× buffer solution (containing 15ml MgCl 2 )
[0155] (4)dNTP 2.5mM
[0156] (5) Sca I restriction endonuclease; EcoRV restriction endonuclease;
[0157] (6)10×L B...
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