Multiple PCR-LDR (polymerase chain reaction-ligase detection reaction) detection kit for multiple deaf susceptibility genes with high specificity at 14 sites

Abstract

The invention provides a PCR-LDR (polymerase chain reaction-ligase detection reaction) detection kit for simultaneously detecting 14 deaf susceptibility genes. The kit comprises a packaging box body (1) and PCR amplification and LDR reaction reagents (2)-(5), wherein eight pairs of PCR primers and 16 groups of probes are contained, wherein two groups of universal probes and 14 groups of detection probes are contained. The method is high in sensitivity and clear and accurate to judge. Compared with the conventional sequencing technique, the kit can realize high throughput screening of 14 key deaf gene mutant diagnosing results at one time, so that the kit has the advantages of being economical, efficient, high in accuracy and the like.

Description

technical field [0001] The invention relates to the technical field of DNA molecular detection, in particular to a multiple PCR-LDR detection kit for 14 deafness susceptibility genes. Background technique [0002] Deafness is a common congenital disease that seriously affects the quality of human life. It can be caused by a single gene mutation or a compound mutation of different genes, or by environmental factors (such as medical factors, environmental exposure, trauma, drugs, etc.) or genetic and environmental factors. Both work together. There are 27.8 million people with hearing disabilities in my country, ranking first among all kinds of disabilities (33%). Studies have found that GJB2, SLC26A4, and mitochondrial genes are the three most common pathogenic genes that cause most non-syndromic deafness in China. [0003] The GJB2 gene is the first hereditary deafness gene cloned and identified, and it is also the most common cause of non-synthetic deafness. About 20% of...

AI Technical Summary

Problems solved by technology

Pathological 235delC mutations lead to frameshift mutations, resulting in non-functional proteins and gap junction defects, thereby affecting the normal opening and closing of ion channels

The 299-300delAT mutation leads to the deletion of most of the CL region of the Cx26 polypeptide, and the complete deletion of the TM3, EC2 and TM4 regions, which may lose the regulation of the pH value of the gap junction channel and reduce the ability of the gap junction to distinguish proteins

These methods have problems such as high cost, low accuracy, cumbersome operation and poor repeatability.

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