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Chip and uses of chip in deafness related gene detection

A gene and chip technology, applied in the field of a method and a device for detecting deafness-related genes, can solve the problem of single detection site

Active Publication Date: 2016-06-01
天津华大基因科技有限公司 +2
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, this technology has a single detection site and can only detect mutations at specific sites of some specific genes

Method used

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  • Chip and uses of chip in deafness related gene detection
  • Chip and uses of chip in deafness related gene detection
  • Chip and uses of chip in deafness related gene detection

Examples

Experimental program
Comparison scheme
Effect test

Embodiment

[0028] Genetic testing was performed on a patient with congenital hearing loss (Tianjin Disabled Persons' Federation) to detect pathogenic mutations.

[0029] DNA extraction: QIAGEN kits were used to extract DNA from peripheral blood samples, and NanoDrop8000 detection and agarose gel electrophoresis detection quality control were performed.

[0030] Sample fragmentation: Use the Covaris fragmentation method to fragment the sample DNA into fragments in the range of 100-700bp.

[0031] 1) Library preparation

[0032] The library preparation was performed with reference to the library construction instruction manual of Illumina Company, which is described in detail below.

[0033] 1.1 End Repair

[0034] End repair reaction system:

[0035] Number of responses

1 reaction (μL)

10x Polynucleotide Kinase Buffer (B904)

10 μL

dNTP Solution Set

4μL

T4DNA Polymerase

5μL

Klenow Fragment

1μL

T4Polynucleotide Kinase (T4PNK...

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PUM

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Abstract

The present invention provides a chip, a kit containing the chip, uses of the kit in hereditary deafness detection, a deafness related gene detection method, and a deafness related gene detection apparatus. According to the present invention, with the chip, the kit, the method and / or the apparatus, the deafness related gene region can be completely captured in one time, and the variation condition of the deafness related gene can be detected.

Description

technical field [0001] The present invention relates to the field of biomedicine, in particular to a chip and its use in detecting deafness-related genes, more specifically to a chip, a kit containing the chip, and the kit is used in the detection of deafness-related genes. Use in hereditary deafness genes, a method for detecting deafness-related genes and a device for detecting deafness-related genes. Background technique [0002] Deafness is a clinically common disease with an incidence rate of 1‰~3‰. Deafness caused by genetic factors accounts for about 60% of the total number of congenital deafness (Schimmenti, L.A., et al., Evaluation of new born screening blood spot-based genetic testing as second tier screen for bedside new born hearing screening. Genetics in Medicine , 2011.13(12): p.1006-1010). According to the second sample survey of disabled people in 2006, the total number of disabled people in my country is 80 million, of which 26.7 million are hearing disabled...

Claims

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Application Information

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IPC IPC(8): C40B40/06C12Q1/68
Inventor 王秋菊易玉婷宋立洁高长欣阿叁刘涛易鑫
Owner 天津华大基因科技有限公司
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