TMC1 gene mutant and applications thereof

A c.1171c, optional technology, applied in the fields of application, genetic engineering, plant gene improvement, etc., can solve the problems of sensorineural deafness that need to be further studied

Active Publication Date: 2014-10-01
GENERAL HOSPITAL OF PLA +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

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Problems solved by technology

[0003] Therefore, the current research on sensorineural deafness still needs to be in-depth.

Method used

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  • TMC1 gene mutant and applications thereof
  • TMC1 gene mutant and applications thereof
  • TMC1 gene mutant and applications thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0061] Example 1 Determination of the pathogenic genes of sensorineural hearing loss

[0062] 1. Sample collection:

[0063] The inventor collected the genes of a second-generation Chinese sensorineural deafness patient family and 208 normal people outside the family family. figure 1 The family map of family 1 of a sensorineural hearing loss patient is shown. Such as figure 2 As shown, where □ represents a normal male, ○ represents a normal female, ■ represents a male patient, and ● represents a female patient. by figure 2 It can be seen that there are 4 members in this family, among which the second-generation children are patients with sensorineural hearing loss, and the first-generation parents are normal members.

[0064] In addition, the inventors performed CT examinations of the temporal bones for all patients in the family, and the inner ears were not deformed (see figure 2 ), but there is no concurrent systemic disease. The above results prove that the disease of the pati...

Embodiment 2

[0073] Example 2 Sanger method sequencing to verify the pathogenic genes of sensorineural deafness disease

[0074] Collection family figure 2 Using QIAmp Blood kit (Qiagen, Hilden, Germany) to extract genomic DNA in peripheral blood leukocytes from the peripheral blood of the four members, use Qubit Fluorometer and agarose gel electrophoresis to measure DNA concentration and purity, and each sample obtained Genomic DNA OD260 / OD280 are between 1.7-2.0, the concentration is not less than 50ng / ul, and the total amount is not less than 3μg.

[0075] Respectively for 2 patients ( figure 2 Middle Ⅱ:1, Ⅱ:2), 2 normal people in the family ( figure 2 In Ⅰ:1, Ⅰ:2) and 208 normal human genes outside the family were tested, primers were designed for the sequence of the compound heterozygous mutation site of the TMC1 gene, and the relevant sequences were obtained through PCR amplification, product purification, and sequencing. According to the result of sequence determination, whether it is...

Embodiment 3

[0093] Example 3 Detection kit

[0094] Prepare a detection kit, which contains c.589G> for detecting mutations A and c.1171C> The primer pairs of T are shown in the table below:

[0095]

[0096] The DNA of the test subject is extracted according to the method described in Example 1, and the extracted DNA is used as a template to perform a PCR reaction with the above-mentioned primers, and the PCR product is purified according to conventional methods in the art, and the purified product is sequenced. Observe whether the sequence obtained by sequencing has c.589G> A and c.1171C> T mutation.

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Abstract

A TMC1 gene mutant and applications thereof are disclosed. The invention relates to a separated nucleic acid encoding the TMC1, a separated polypeptide, a method of screening a biological sample susceptible to the sensorineural hearing loss, a system of screening the biological sample susceptible to the sensorineural hearing loss, and a kit for screening the biological sample susceptible to the sensorineural hearing loss. Compared with SEQ ID NO:1, the separated nucleic acid encoding the TMC1 is provided with at least one mutant selected from c.589G>A and c.1171C>T. By detecting whether the biological sample comprises the mutants or the mutant, whether the biological sample is susceptible to the sensorineural hearing loss can be effectively detected.

Description

Technical field [0001] The present invention relates to the technical field. Specifically, the present invention relates to TMC1 gene mutants and applications thereof. Background technique [0002] Studies have shown that 60% of deaf patients are caused by genetic factors, and another 40% of deaf patients are related to environmental factors. In the past, due to the lack of in-depth understanding of the genetic etiology of deafness and diagnostic techniques, it was impossible to clarify the molecular etiology of deafness, let alone prevent its occurrence. In the past 30 years, with the rapid development of deafness genetic etiology and molecular biology technology, 84 deafness genes have been cloned so far. Some common genes have been deeply understood, and molecular etiology diagnosis of deafness becomes possible. [0003] Therefore, the current research on sensorineural hearing loss still needs to be in-depth. Summary of the invention [0004] The present invention aims to sol...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/12C07K14/47C12Q1/68C12M1/34
Inventor 高雪戴朴管李萍朱庆燕吴婧王俊汪建杨焕明
Owner GENERAL HOSPITAL OF PLA
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