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Diagnosis of gene mutation of cvm and its application

A gene and genotype technology, applied in the field of medical diagnosis, can solve problems such as unclear etiology of CVM patients

Active Publication Date: 2021-01-26
PEKING UNION MEDICAL COLLEGE HOSPITAL CHINESE ACAD OF MEDICAL SCI
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

However, a large number of patients with CVM remain of unknown etiology

Method used

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  • Diagnosis of gene mutation of cvm and its application
  • Diagnosis of gene mutation of cvm and its application
  • Diagnosis of gene mutation of cvm and its application

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0044]Example 1 Screening of gene mutations related to CVM

[0045](1) Participant recruitment

[0046]As part of the systematic analysis of scoliosis and related comorbidities (Deciphering Disorders InvolvingScoliosis and Comorbidities, http: / / discostudy.org / ), 105 CVM families from Peking Union Medical College (PUMCH), including 99 trio and Six families and multiple CVM patients participated in this study. Confirmation of CVM is confirmed by radiography and collected clinical data including medical records and images. Everyone signed an informed consent form. The Ethics Committee of Peking Union Medical College Hospital approved the study.

[0047](2) Exome sequencing and data analysis

[0048]All recruited families have undergone exome sequencing. DNA was extracted from peripheral blood, and exome sequencing was performed on all subjects. Prepare Illumina paired-end libraries from DNA samples and perform exome capture, and then sequence them on the Illumina HiSeq 4000 platform. As mentioned ...

Embodiment 2

[0059]Example 2 Functional verification of pathogenic gene mutations

[0060]In order to further study the pathogenesis of MYH3 variants, the MYH3-EGFP fusion plasmid was used to convert the variant c.841G>A and c.1400A>C was transfected into HEK-293T cells, and the expression of MYH3 in the transfected cells was analyzed by Western blot.

[0061]1. Construction of pcDNA3.1-MYH3 mutation-EGFP plasmid

[0062]The work was done with the help of Beijing Haichuangkeye Biotechnology Company. The general steps are as follows:

[0063](1) Design primers to amplify MYH3 mutant sequence and EGFP respectively. The primers and sequence information are as follows: The primers to amplify MYH3 mutant sequence are as follows:

[0064]MYH3-G841A-F:

[0065]5’-CAGCTGAAGGCTaAAAGAAGCTACCACATCTTCTACCAG-3’ (SEQ ID NO.1)

[0066]MYH3-G841A-R:

[0067]5'-CTTTtAGCCTTCAGCTGGAAAGTGACTCTTGA-3' (SEQ ID NO. 2)

[0068]The primers used to amplify the EGFP sequence are as follows:

[0069]EGFP-F:

[0070]5’-GAGTGAAGAGCCACCGGTCGCCACCATGGTGAGCAAGG...

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Abstract

The invention discloses a CVM-related gene mutation. It is discovered for the first time through a second-generation sequencing technology that there is the MYH3 gene c.841G>A mutation on the genomic DNA of a CVM patient. According to the research result, a product for diagnosing CVMs is developed, can judge whether or not an examinee suffers from the CVMs by detecting the genotype of the MYH3 gene c.841 locus on the genomic DNA of the examinee and can be applied to clinical treatment.

Description

Technical field[0001]The invention belongs to the field of medical diagnosis, and relates to a gene mutation diagnosis of CVM.Background technique[0002]Congenital Vertebral Malformations (CVM) represents a group of serious congenital defects, which can be clinically manifested as congenital scoliosis (CS), kyphosis, Klippel Feil syndrome and other complex syndromes. Spinal deformities are divided into three types, including formation disorders (hemivertebrae, butterfly vertebrae and wedge vertebrae), malsegmentation (vertebral fusion, blocked vertebrae and unsegmented vertebrae) and mixed deformities. The prevalence of CVM is about 1 / 2000. Malformations of other organs or systems, such as central nervous system defects, gastrointestinal defects, genitourinary system defects, and cardiovascular system defects, can also occur in patients with CVM. CVM is the result of abnormal development of paraaxial mesoderm during embryonic development. According to reports, several genes (TBX6, NO...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883C12N15/11
CPCC12Q1/6883C12Q2600/156
Inventor 吴南吴志宏邱贵兴左宇志张元强赵森
Owner PEKING UNION MEDICAL COLLEGE HOSPITAL CHINESE ACAD OF MEDICAL SCI
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