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Inner ear malformation/incomplete septation type III cochlear malformation gene pou3f4 mutation detection kit

A technology of POU3F4 and analytical reagents, applied in the field of genetic testing, can solve the problem of low number of IP-III cases and achieve the effect of reducing birth rate and burden

Active Publication Date: 2022-04-26
FOURTH MILITARY MEDICAL UNIVERSITY
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

There have been no reports on the c.255_297del43(p.Glu86Thrfs87*) mutation of the POU3F4 gene, mainly due to the extremely low number of IP-III cases

Method used

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  • Inner ear malformation/incomplete septation type III cochlear malformation gene pou3f4 mutation detection kit
  • Inner ear malformation/incomplete septation type III cochlear malformation gene pou3f4 mutation detection kit
  • Inner ear malformation/incomplete septation type III cochlear malformation gene pou3f4 mutation detection kit

Examples

Experimental program
Comparison scheme
Effect test

example 1

[0045] Collect various sensorineural deafness patients through the deaf clinic and resource collection network, and establish a deafness sample resource bank. On the premise of the patient's voluntary consent, after signing the informed consent, 3-5mL blood samples were collected, and an outpatient medical record database was established to record the patient's condition, family history and contact information in detail. Then, use the kit to extract the genomic DNA, put it into the warehouse after quantification, and store it at -20°C. Each DNA sample corresponds to the registered patient's clinical data in detail. Primers (including the entire coding region of POU3F4) were designed using the online primer design software Primer3, and the target fragment was amplified by PCR using genomic DNA as a template. Direct sequencing of PCR amplification products: the sequencing primers are the same as the PCR amplification primers, forward and reverse sequencing, using ABI 3730 DNA se...

example 2

[0151] Amplification primers (design completed in February 2017) are as follows, others are the same as Example 1:

[0152] Upstream primer POU3F4-F2: 5'-ACCTCCCGCACCGCTATT-3';

[0153] Downstream primer POU3F4-R2: 5'-CGAGCGAACGAGAGAGAGAG-3'.

[0154] The Fourth Military Medical University of the Chinese People's Liberation Army

[0155] Inner ear malformation / incomplete septum type III cochlear malformation gene POU3F4 mutation detection kit

[0156] 4

[0157] 1

[0158] 20

[0159] DNA

[0160] Synthetic

[0161] 1

[0162] taacccgtgc tagcgtcttt 20

[0163] 2

[0164] 20

[0165] DNA

[0166] Synthetic

[0167] 2

[0168] cgagcgaacg agagagagag 20

[0169] 3

[0170] 18

[0171] DNA

[0172] Synthetic

[0173] 3

[0174] acctcccgca ccgctatt 18

[0175] 4

[0176] 20

[0177] DNA

[0178] Synthetic

[0179] 4

[0180] cgagcgaacg agagagagag 20

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Abstract

The invention discloses a kit for detecting the mutation of the cochlear deformity-causing gene POU3F4 of type III inner ear deformity / incomplete separation. The kit includes reagents for extracting DNA from samples to be tested, PCR reaction reagents for amplifying sample DNA, and reagents for sequencing PCR amplification products; the PCR reaction reagents for amplifying sample DNA include PCR primers. Use the kit of the present invention to detect whether the patient has the POU3F4 gene c.255_297del43 mutation, thereby diagnosing the cause of cochlear malformation type III cochlear malformation / incomplete separation. The POU3F4 mutation screening work in patients with type III cochlear malformation provides a basis for the diagnosis of patients with inner ear malformation / incomplete separation type III cochlear malformation.

Description

technical field [0001] The invention relates to the field of gene detection, in particular to a POU3F4 gene mutation c.255_297del43(p.Glu86Thrfs87*) typing detection kit used in the clinical diagnosis of inner ear malformation / incomplete septum type III cochlear malformation. Background technique [0002] Hereditary non-syndromic deafness is divided into five types: 1. Autosomal dominant and incomplete dominance, accounting for 22%; 2. Autosomal recessive inheritance, accounting for 77%; 3. X-linked inheritance; 4. , Y-linked inheritance; five, mitochondrial maternal inheritance. Non-syndromic deafness caused by X chromosome linkage accounts for about 1%-2% of hereditary deafness. At present, there are 4 genes that cause non-syndromic deafness have been identified on the X chromosome, namely COL4A6, PRPS1, POU3F4 and SMPX, and 40% of X-linked non-syndromic deafness is caused by the POU3F4 gene. [0003] The POU3F4 gene is the first gene found to cause X-linked non-syndromi...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C12Q1/6858
CPCC12Q1/6858C12Q1/6883C12Q2600/156C12Q2531/113C12Q2535/122
Inventor 查定军李薇陈俊安晓刚梁鹏飞王淑娟李琼邱建华
Owner FOURTH MILITARY MEDICAL UNIVERSITY
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