GJB2 gene p.V37I mutation diagnostic kit for diagnosing late-onset deafness

A technology for delayed deafness and a diagnostic kit, applied in the field of kits

Inactive Publication Date: 2012-01-04
XIN HUA HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, there are no international and domestic reports on the correlation between p.V37I exclusive mutation and delayed deafness

Method used

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  • GJB2 gene p.V37I mutation diagnostic kit for diagnosing late-onset deafness
  • GJB2 gene p.V37I mutation diagnostic kit for diagnosing late-onset deafness
  • GJB2 gene p.V37I mutation diagnostic kit for diagnosing late-onset deafness

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Experimental program
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Effect test

Embodiment 1

[0027] GJB2 The gene is a common deaf gene in the Chinese population, and its gene mutation can lead to recessive hereditary deafness. exist GJB2 Among the many mutations in the gene, the p.V37I mutation is more common. Individuals with p.V37I exclusive mutations (including p.V37I homozygous, and compound heterozygous p.V37I and another loss-of-function mutation) Prone to mild to moderate deafness. said GJB2 The amino acid sequence of the gene is shown in SEQ ID NO.1, and the p.V37I mutation indicates that the 37th position of the amino acid sequence of GJB2 is mutated from valine (V) to isoleucine (I), see SEQ ID NO. 2.

[0028] p.V37I exclusive mutations include p.V37I homozygosity (both somatic pairs of genes carry p.V37I mutations), and compound heterozygosity of p.V37I and another loss-of-function mutation (somatic pair of genes carrying p.V37I mutation, another carrier can cause GJB2 other mutations that cause loss of gene function) two genotypes that are chara...

Embodiment 2

[0039] Embodiment 2 detection method

[0040] The main instruments and equipment are shown in Table 2.

[0041] Table 2 Main instruments and equipment

[0042] equipment name Production company or model PCR instrument: ABI2720 Thermal cycler Applied Biosystems, USA Pure water meter: Millipore Direct Q3 Millipore, Germany Sequencer: ABI Prism 3730 Applied Biosystems, USA Nucleic acid detector Thermo Nanodrop 2000 Cryogenic centrifuge 1 Thermo LEGEND RT+ Cryogenic centrifuge 2 Thermo LEGEND MICRO 17R Ice maker Scotman AF100 Fully automatic digital gel imaging system Tanon 3500 Electronic scale FA2004 Shanghai Shunyu Hengping Scientific Instrument Co., Ltd. Electrophoresis Agarose level HE120, HE90 Constant temperature water bath box: DK-8AX Shanghai Hengke Technology Co., Ltd. 8 micro-dosing guns (0.1ml -10ml) Eppendorf 8 micro-dosing guns (1ml -100ml) Eppendorf 0.1ml-2.5...

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Abstract

The invention relates to application of GJB2 gene p.V37I mutation to the preparation of products for diagnosing late-onset deafness. The GJB2 gene p.V37I mutation is p.V37I exclusive mutation. The invention also provides a GJB2 gene p.V37I mutation diagnostic kit for diagnosing the late-onset deafness and application of the kit. The GJB2 gene p.V37I mutation diagnostic kit has the advantages that: a common molecular identifier, namely the GJB2 gene p.V37I exclusive mutation related to the late-onset deafness highly is discovered at home and abroad for the first time; a molecular identifier-based gene screening method and the preferential application range of the molecular identifier in the screening of neonates are determined; and the alarm time of the late-onset deafness caused by the GJB2 gene p.V37I exclusive mutation is advanced to a neonate period, and the GJB2 gene p.V37I mutation diagnostic kit is widely applied to the early detection, intervention and rehabilitation of genetic susceptible late-onset deafness, the screening and diagnosis of deafness genes, late-onset deafness hearing-gene combined screening and other relevant study fields.

Description

technical field [0001] The invention relates to a reagent kit, in particular to a GJB2 gene p.V37I mutation diagnostic reagent kit for diagnosing delayed deafness. Background technique [0002] Listening is one of the indispensable factors in the process of language development. Early prevention and intervention for children with Permanent Childhood Hearing Impairment (PCHI) can achieve good speech and cognitive development. Currently, Universal Newborn Hearing Screening (UNHS) can detect early hearing loss in the neonatal period, but for delayed deafness that occurs after the neonatal period (the incidence rate is about 0.25‰-0.99‰), due to the lack of effective risk factor assessment and early identification, there is still a lack of effective early detection methods. [0003] Newborn hearing screening technology is widely carried out in countries around the world. Through this screening, newborn hearing loss can be detected early and early intervention can be carried ou...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12Q1/68
CPCC12Q1/68C12Q2600/156C12Q1/6883
Inventor 吴皓杨涛
Owner XIN HUA HOSPITAL AFFILIATED TO SHANGHAI JIAO TONG UNIV SCHOOL OF MEDICINE
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