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AMSH gene mutant and application thereof

A mutant and nucleic acid technology, applied in the field of building drug screening models and biological sample kits, can solve the problems that need to be deepened and the etiology of patients is unknown, and achieve the effect of high early diagnosis rate.

Active Publication Date: 2016-08-03
BGI SHENZHEN CO LTD +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0003] Mutations in MFN2 and KIF1B genes have been found to be associated with the pathogenesis of CMT2A, but the etiology of many patients is still unknown, and mutations in other genes may also be the cause of the disease
Therefore, the current research on Charcot-Marie-Tooth disease, especially its pathogenic genes, still needs to be further studied.

Method used

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  • AMSH gene mutant and application thereof
  • AMSH gene mutant and application thereof
  • AMSH gene mutant and application thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0063] Example 1 Determination of Peroneal Muscular Dystrophy Pathogenic Mutations

[0064] 1. Sample collection

[0065] The inventor found a CMT family in Yanzhou and Weihai City, Shandong Province, and the family diagram is shown in figure 2 . like figure 2 , in which, ○ indicates normal female, □ indicates normal male, ■ indicates male patient, ● indicates female patient, and the arrow points to the proband (Y-04).

[0066] The CMT2A family contains 29 members, including 5 CMT2A patients. The proband (Y-04) was diagnosed with CMT2A by the Department of Neurology, The Third Affiliated Hospital of Peking University. The main symptoms of the proband were slow walking that started about 30 years ago (16-17 years old), easy falls from 25-26 years old, and gradually worsened, and began to affect daily life after 3 years, struggling to write, atrophy of the small muscles of the hands, and atrophy of the right hand. The left leg was swollen, and there was no obvious paresth...

Embodiment 2

[0087] Example 2 Sanger method sequencing verification

[0088] All family members (including patients and normal family members) in the family of patients with peroneal muscular dystrophy described in Example 1, as well as 200 normal people outside the family, were detected for AMSH gene: c.364A>G for AMSH gene Design primers for mutation, and then obtain the relevant sequence of the mutation site by PCR amplification, product purification and sequencing. According to the determination of whether the sequence is a mutant or wild type, verify the AMSH gene and the correlation between the mutation and Peroneal Muscular Dystrophy sex.

[0089] The specific method steps are as follows:

[0090] 1. DNA extraction

[0091] According to the method for extracting DNA described in Example 1, the genomic DNA in the peripheral venous blood of the subjects was extracted and prepared for use.

[0092] 2. Primer design and PCR reaction

[0093] First, referring to the human genome sequ...

Embodiment 3

[0106] Example 3 Detection Kit

[0107] A detection kit is prepared, comprising primers capable of detecting the c.364A>G mutation of AMSH gene, for screening biological samples susceptible to peroneal muscular dystrophy, wherein these primers are AMSH gene exon-specific primers whose sequences are As described in Example 2, SEQ ID NOs: 3-4 are shown.

[0108] The specific steps for screening biological samples susceptible to peroneal muscular dystrophy using the above-mentioned kit are: extract the DNA of the test subject according to the method described in 2.1 "DNA extraction" in step 2 of Example 1, take the extracted DNA as a template and The exon-specific primers of the above AMSH gene were subjected to PCR reaction (see Example 2 for the PCR reaction system and reaction conditions), and the PCR product was purified according to conventional methods in the art, and the purified product was sequenced, and then obtained by observing the sequencing results. 364A>G mutation...

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PUM

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Abstract

The invention discloses an AMSH gene mutant and an application thereof, and concretely relates to isolated nucleic acid for coding the AMSH mutant, isolated nucleic acid, a method for screening a biological sample predisposed to charcot-marie-tooth disease, a system for screening the biological sample predisposed to charcot-marie-tooth disease, and a kit used for screening the biological sample predisposed to charcot-marie-tooth disease. Compared with SEQ ID NO:1, the isolated nucleic acid for coding the AMSH mutant comprises c.364A>G mutation. By detecting whether the new mutant exists in the biological sample or not, whether the biological sample is predisposed to charcot-marie-tooth disease or not can be effectively detected.

Description

technical field [0001] The present invention relates to AMSH gene mutants and applications thereof. Specifically, the present invention relates to isolation of nucleic acids encoding AMSH mutants, isolated polypeptides, systems for screening biological samples susceptible to peroneal muscular dystrophy, kits for screening biological samples susceptible to peroneal muscular dystrophy, constructs, Recombinant cells and methods for constructing drug screening models. Background technique [0002] Charcot-Marie-ToothDisease (CMT), also known as hereditary motor and sensoryneuropathy (HMSN). CMT is a group of the most common peripheral nerve monogenic genetic disorders with high clinical and genetic heterogeneity, mainly affecting motor and / or sensory neurons and associated Schwanncells. According to electrophysiological criteria, CMTs are mainly divided into two categories: demyelinating type (CMT1) and axonal type (CMT2). CMT2 can be divided into 14 subtypes (CMT2A-CMT2N). ...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/57C12N9/64C12M1/34C12Q1/68A01K67/027
Inventor 刘少君戴兰兰刘勇谌于蓝陈玉剑张建国阙海萍
Owner BGI SHENZHEN CO LTD
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