Hereditary hearing loss susceptible gene 20 site typing detection kit

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,...

AI Technical Summary

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 newborn screening

In addition, most of the current deafness gene detection patents are concentrated on GJB2, SLC26A4 and mitochondrial DNA loci, and there are few mutation detections on the GJB3 gene that is closely related to acquired high-frequency sensorineural deafness

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