Hereditary hearing loss susceptible gene 20 site typing detection kit

A hereditary deafness and detection kit technology, applied in the field of hereditary deafness susceptibility genes, can solve the problems of high cost, low efficiency, difficult to achieve clinical rapid detection of newborn screening, etc., to achieve improved accuracy and low cost Effect

Inactive Publication Date: 2017-02-15
HANGZHOU JILUO BIOLOGICAL PHARMA CO LTD
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Problems solved by technology

[0004] The clinically commonly used detection methods for hereditary deafness are PCR sequencing and gene chip methods, but these methods are low-throughput detection with low efficiency and high cost, and it is difficult to achieve rapid clinical detection and mass ne

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  • Hereditary hearing loss susceptible gene 20 site typing detection kit
  • Hereditary hearing loss susceptible gene 20 site typing detection kit

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Embodiment 1

[0023] 1. The composition of the kit.

[0024] The hereditary deafness susceptibility gene 20 locus typing detection kit kit of the present embodiment includes 5 groups of reagents, wherein the first group is PCR amplification reagent, consisting of PCR amplification enzyme mixture, PCR amplification primers Group 1 and primer group 2, positive control solution and negative control solution; the second group is PCR product purification reagent; the third group is single base extension reaction reagent, which consists of extension reaction enzyme reaction mixture, extension primer group 1 and primer Group 2 is composed; the fourth group is the extension product purification reagent; the fifth group is the on-machine detection reagent. The specific components are as follows:

[0025] Table 3 Composition of the kit (96 servings / box)

[0026]

[0027] 2. How to use the kit.

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Abstract

The invention discloses a hereditary hearing loss susceptible gene 20 site typing detection kit. The kit comprises PCR amplification primers and single-base extension primers of 1494 C>T and 1555 A>G sites of a mitochondrial gene, 35dleG, 299-300delAT, 235delC, 176-191del19 and 167delT sites of a GJB2 gene, 547G>A and 538C>T sites of a GJB3 gene, and 281C>T, 589G>A, IVS7-2A>G, 1174A>T, 1226G>A, IVS15+5G>A, 1975G>C, 2027T>A, 2162C>T and 2168A>G sites of a SLC26A4 gene. The primers have sequences shown in the formulas of SEQ ID No: 1 to SEQ ID NO: 40. The kit is divided into two groups and is used for amplification and detection of 20 sites so that the accuracy of detection is guaranteed. The kit realizes high efficiency, low cost and high accuracy detection of a hereditary hearing loss susceptible gene type.

Description

technical field [0001] The invention relates to the field of gene polymorphism detection in the field of biotechnology, in particular to genetic deafness susceptibility genes, including the polymorphism detection of 20 sites including mitochondrial DNA, GJB2 gene, GJB3 gene and SLC26A4 gene. Background technique [0002] Deafness is a clinically common disease, and about 60% are caused by genetic factors, among which the deafness caused by congenital severe deafness, large vestibular aqueduct syndrome, drug-induced deafness, and delayed deafness accounted for 21% , 18.6%, 3.7%, 2.1%. At present, the proportion of genetic mutations that cause hereditary deafness among the Chinese population is about 12%, that is, 12 out of every 100 people carry genetic defects that can cause hereditary deafness. From 2008 to 2010, the incidence rates of congenital deafness in my country were 1.99‰, 2.15‰ and 2.19‰ respectively, that is, there were 2 to 3 deaf children in every 1,000 births,...

Claims

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Application Information

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IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 李洲李鹏飞范嘉庚马卧龙
Owner HANGZHOU JILUO BIOLOGICAL PHARMA CO LTD
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