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Method and kit for non-invasive measurement on fetus deaf pathogenic gene mutation

A disease-causing gene and kit technology, applied in the detection of fetal deafness-causing gene mutations, non-invasive detection of fetal deafness-causing gene mutations, can solve the problem that no one can achieve non-invasive fetal deafness-causing gene detection

Pending Publication Date: 2015-11-25
BERRYGENOMICS CO LTD
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0004] With the advancement of science and technology, through Sanger sequencing, gene chips and protein detection methods, many newborn infants with deafness have been diagnosed. There are also prenatal tests based on invasive diagnosis of fetal deafness-causing genes, but non-invasive fetal deafness-causing genes No one has yet achieved the detection of

Method used

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  • Method and kit for non-invasive measurement on fetus deaf pathogenic gene mutation
  • Method and kit for non-invasive measurement on fetus deaf pathogenic gene mutation
  • Method and kit for non-invasive measurement on fetus deaf pathogenic gene mutation

Examples

Experimental program
Comparison scheme
Effect test

specific Embodiment approach

[0133] Experimental steps:

[0134] 1. Plasma DNA Extraction

[0135] Take 1-2mL of plasma, and use the QIAampCirculatingNucleicAcidKit Cat. No. 55114 to extract plasma DNA. Finally, DNA was eluted with 45 μl of elution buffer, and 2 μl of Qubit was used to measure the concentration.

[0136] 2. Plasma DNA filling plus A

[0137] Prepare the reaction mixture in Table 1:

[0138] Table 1

[0139] T4 DNA Polymerase Buffer (10X)

5μl

plasma DNA

40.5μl

Taq

0.5μl

T4 DNA polymerase

2.0μl

10mM dNTPs

2.0μl

total capacity

50μl

[0140] Reaction on the PCR machine:

[0141] 37°C: 20min

[0142] 72°C: 20min

[0143] 4°C: keep

[0144] The product added with A was purified by column, dissolved in 25 μl BufferEB, and eluted twice.

[0145] 3. Joint connection

[0146] Prepare the reaction mixture in Table 2:

[0147] Table 2

[0148] dna

22μl

2x Quick Ligase Buffer

25μl

...

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Abstract

The present invention is directed to a method, kit and primers for detecting fetal deafness pathogenic gene mutations. The method of the invention comprises: (a) designing primers according to the pre-determined mutation loci of deafness pathogenic genes; (b) extracting plasma DNAs in a pregnant woman; (c) connecting the extracted plasma DNAs with pre-amplification linkers to obtain connected products; (d) PCR pre-amplifying the connected product to obtain pre-amplified products; (e) cyclizing the pre-amplified products to obtain cyclised DNAs; (f) PCR amplifying the cyclised DNAs using the designed primers to obtain amplified products; and (g) high throughput sequencing the amplified products and analyzing the mutations of the fetal deafness pathogenic genes. The invention can effectively determine whether the pre-determined loci on deafness pathogenic genes have been mutated as well as the mutation type.

Description

technical field [0001] The invention relates to the field of gene diagnosis. More specifically, the present invention relates to a method for non-invasive detection of fetal deafness-causing gene mutations. The invention also relates to a kit and application for detecting the mutation of the fetal deafness-causing gene. Background technique [0002] Deafness is a common disease that causes human disability and affects human health, and is also one of the most common clinical genetic diseases. According to statistics, in every 1000 newborns in the world, there is 1 case of hearing-impaired children (Steel KP. New interventions in hearing impairment [J]. BMJ, 2000, 320 (4): 622-625). There are many reasons for deafness, and genetic factors are the most important. Hearing loss that occurs at birth or before the age of 3 is called prelingual hearing loss, at least half of which are caused by genetic defects. Among a large number of patients with delayed hearing loss, many pa...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68C12N15/11
CPCC12Q1/6883C12N15/1093C12Q1/6827C12Q2600/156C12Q2600/158C12Q2600/16C12Q2525/191C12Q2525/307C12Q2535/122C12Q2565/514
Inventor 刘异倩郭现超傅咏胡玉刚李天成张建光
Owner BERRYGENOMICS CO LTD
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