Chinese population deaf gene screening kit and application thereof

Abstract

The invention discloses a Chinese population deaf gene screening kit and an application thereof. The kit comprises PCR (polymerase chain reaction) amplification primers and extension primers as well as a PCR reaction agent, wherein the PCR amplification primers and extension primers are designed by taking mutation of lotus 35, lotus 109, lotuses 176-199, lotus 235, lotuses 299-300 of a GJB2 gene, lotus 1174, lotus 1226, lotus 1229, lotus 1975, lotus 2027, lotus 2162, lotus 2168 and lotus IVS7-2 of an SLC26A4 gene, lotus 1494, lotus 1555, lotus 3243 and lotuses 7444 of a mitochondrial DNA (deoxyribonucleic acid) gene as a detection object; and sequences of the primers are as shown in SEQ ID No.1-SEQ ID No.33; and the PCR reaction reagent comprises polymerase and buffer liquor. The kit disclosed by the invention can be utilized to obtain genotypes of 17 lotuses by one step through simple operation, so that cost is low; and accuracy of detection flux and detection results is greatly improved in comparison with that in the prior art, and therefore, the kit has very good clinical and large-scale application value.

Description

technical field [0001] The invention particularly relates to a deafness gene screening kit and its application, belonging to the technical field of genetic engineering. Background technique [0002] Deafness is the most common cause of communication impairment. It is estimated that about 700 million people in the world have a hearing loss of at least 55dB. Among them, prelingual deafness is a common form of onset, and it is also a category that has a serious social impact. The incidence rate is 1 / 1000, and about half of them are caused by genetic factors. This population has exceeded 27 million, of which more than 40% are NSHI (nonsyndromic hearing loss, non-syndromic hearing loss). Although hereditary deafness has been discovered as early as the sixteenth century, due to the limitation of research methods, people's research on its pathology has been slow. [0003] In the past 10 years, with the development of modern science and technology and the rapid development of mole...

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Problems solved by technology

However, after large-scale clinical verification, false negative results (1 / 5800) occurred when the individual sites of the above kit were amplified, and sites such as SLC26A4 gene 1226, 1975, 2162 and mitochondrial DNA gene 7444 were not covered. Loci also account for a relatively high proportion of the genetic etiology of deafness patients. How to develop a deafness gene screening technology with higher detection efficiency, higher accuracy, and greater detection throughput is still one of the important technical problems that the industry needs to solve one

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