Method for noninvasive prenatal disgnosis of congenital deafness genetic disease

A technology for congenital deafness and prenatal diagnosis, applied in the field of genetic diagnosis, can solve problems such as increasing the detection time, and achieve the effect of saving cost, time, high sensitivity, and reducing the pain of patients

Inactive Publication Date: 2013-12-11
康盈创新生物技术(北京)有限公司
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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

Method used

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  • Method for noninvasive prenatal disgnosis of congenital deafness genetic disease
  • Method for noninvasive prenatal disgnosis of congenital deafness genetic disease
  • Method for noninvasive prenatal disgnosis of congenital deafness genetic disease

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Embodiment Construction

[0030] The microarray chip of the present invention adopts a method for non-invasive prenatal diagnosis of congenital deafness genetic diseases using gene chip technology as a platform technology, and diagnoses common congenital deafness phenomena in the crowd. The nucleotide sequence is the probe. A total of 20 probes on each chip, 16 probes of wild type and mutant type of three congenital deafness related genes and eight related mutation sites in the microarray, the probe sequences and names are shown in Table 1- 1. 2 positive quality control probes, 1 negative quality control probe, and 1 blank control probe. The names of the probes are as shown in the table. Use a special instrument, that is, a spotting instrument, to spot 20 probes on a glass slide covered with a specific medium, and repeat each probe three times in order of priority. The order of the targets is shown in image 3shown. Sample preparation, multiplex PCR amplification, and chip hybridization are performe...

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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...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C40B40/06C40B50/18
Inventor 不公告发明人
Owner 康盈创新生物技术(北京)有限公司
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