Method for noninvasive prenatal disgnosis of congenital deafness genetic disease

Abstract

The invention belongs to the technical field of gene diagnosis, and provides a method for noninvasive prenatal disgnosis of a congenital deafness genetic disease through the technology taking gene chips as a platform. Each microarray gene chip comprises a chip base and probes fixed on the chip base, and the probes have the nucleotide sequences which are as shown in the table 1-2. The diagnosis method comprises the steps as follows: preparation of to-be-tested DNA, multiple PCR amplification, chip hybridization, data processing and image analysis, chip scanning and result obtaining. At the same time, the invention comprises a kit for the noninvasive prenatal disgnosis of the congenital deafness genetic disease, and the kit comprises the microarray gene chips; the method for noninvasive prenatal disgnosis of the congenital deafness genetic disease is simple and convenient; detection has the characteristics of high throughput, good specificity and high sensitivity, the situation that whether each locus belongs to the wild type or the mutant type can be quickly screened, and the diagnosis of the congenital deafness genetic disease can be improved to the gene level; since the noninvasive prenatal disgnosis technology is adopted, the cost is reduced, the time is saved, and the pain of patients is further reduced.

Description

technical field [0001] The invention belongs to the technical field of gene diagnosis, and in particular relates to a method for non-invasive prenatal diagnosis of congenital deafness genetic disease using microarray gene chip technology as a platform technology. Background technique [0002] Deaf disease is a common cause of affecting human health and causing human disabilities. There are more than 20 million deaf-mute people in my country, accounting for 1 / 3 of the total number of disabled people, and the rate of births is increasing at a rate of 30,000 per year. The cause of deafness, whether it is hereditary, and whether it is safe to give birth or reproduce are issues of great concern to deaf patients and deaf families. According to statistics from various countries, 1 / 2000 (0.05%) to 1 / 1000 (0.1%) children are born with severe deafness; meanwhile, more than half of childhood deafness is caused by genetic factors. In addition, among a large number of patients with dela...

AI Technical Summary

Problems solved by technology

This greatly increases the testing time and brings both mental and physical pain to the testees, so it is not suitable for prenatal diagnosis

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