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Distal arthrogryposis disease pathogenic gene and use thereof

A Genetic, Applied Technology Applied in the Field of Diagnosis of Distal Arthrodesis

Active Publication Date: 2018-07-10
THE FIRST AFFILIATED HOSPITAL OF SUN YAT SEN UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

[0005] Although there have been many reports on DA pathogenic genes and genetic hotspots, DA has a high degree of genetic heterogeneity and gene pleiotropy, that is, the same subtype of DA can be caused by a variety of different pathogenic gene mutations , and different mutations of the same pathogenic gene can lead to the occurrence of different subtypes of DA

Method used

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  • Distal arthrogryposis disease pathogenic gene and use thereof
  • Distal arthrogryposis disease pathogenic gene and use thereof
  • Distal arthrogryposis disease pathogenic gene and use thereof

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0084] Example 1 DA-1 type family specimen collection, imaging and histological examination

[0085] (1) The inventor of the present application collected a large DA-1 family with 54 people in four generations including 12 patients by organizing the case collection of DA families in Guangdong Province (such as figure 1 shown), based on the appearance of the distal joints of the family members (eg figure 2 shown) and X-ray findings (such as image 3 shown) to confirm the diagnosis of DA, and classify the patients according to the diagnostic criteria established by Bamshad and Hall.

[0086] Result analysis:

[0087] From figure 1 It can be seen that the family includes 54 family members in 4 generations, of which 12 are patients, and the inheritance conforms to the law of autosomal dominant inheritance;

[0088] From figure 2It can be seen that the main symptoms of the patient are interphalangeal joint flexion, disappearance of the flexor gap, and ulnar deviation of the ...

Embodiment 2

[0093] Example 2 Mapping of the disease-causing gene in the DA-1 family and predicting the possible functional impact of the mutation

[0094] (1) Whole genome exome sequencing

[0095] According to the disease characteristics of distal arthrogryposis (genetic background, AT content, repeat sequence composition and heterozygosity, etc.), Agilent SureSelectXT Human All Exon kit was used to capture and build a library, and completed the collection of 4 DA-1 types in the family. Whole-genome exome sequencing of the patient and one normal person. The platform used for sequencing is HiSeq PE150, and the average data volume of each sample is higher than 10G RAW Data. The results of the sequencing data are shown in Tables 1 and 2.

[0096] Table 1 DA-1 Depth and coverage data of whole-genome exome sequencing

[0097]

[0098] Table 2 Types and numbers of mutations in whole-genome exome sequencing of DA-1 family

[0099]

[0100] results and analysis:

[0101] As can be seen...

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Abstract

A distal arthrogryposis disease related pathogenic gene-MET pathogenic gene is identified. On the basis, the invention provides a mutant MET gene and a use thereof, and a vector, host cell and kit containing the mutant MET gene. In addition, the invention also provides a method for diagnosing the distal joint flexion disease, a diagnostic agent for the method, and a kit containing the diagnostic agent.

Description

technical field [0001] The invention relates to the fields of molecular genetics and the diagnosis and treatment of diseases. In particular, the present invention identifies the causative gene-MET gene associated with distal arthrogryposis. On this basis, the present invention provides a mutated MET gene and its application, a vector, a host cell and a kit containing the mutated MET gene. In addition, the present invention also provides a method for diagnosing distal arthrogryposis, a diagnostic agent used in the method, and a kit comprising the diagnostic agent. Background technique [0002] Distal arthrogryposis (DA) is a type of autosomal dominant (Autosomal Dominant, AD) disease, with typical AD genetic characteristics, that is, there are affected patients in each generation of individuals; there is no gender difference between patients; in the same family Among them, not all patients show typical distal joint contractures or deformities, and there is a case of reduced...

Claims

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Application Information

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IPC IPC(8): C12N15/12C12Q1/6883
CPCC07K14/47C12Q1/6883C12Q2600/156
Inventor 苏培强徐彩霞周航廖智恒连成杰
Owner THE FIRST AFFILIATED HOSPITAL OF SUN YAT SEN UNIV
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