Human PFBC pathogenic gene MYORG with mutation at 1328th locus and application of human PFBC pathogenic gene MYORG

A mutated gene, human technology, applied in the field of the pathogenic mutation form of the pathogenic gene MYORG, can solve the problems of calcification, calcification deposition, abnormal protein glycosylation metabolism, etc., and achieve the effect of simple and effective detection

Active Publication Date: 2021-01-15
THE FIRST AFFILIATED HOSPITAL OF FUJIAN MEDICAL UNIV +1
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

The tail feet of astrocytes, together with perivascular cells, form the neurovascular unit, which happens to be the site of pathological calcium deposition in the cranial brain; on the one hand, MYORG gene mutations may lead to astrocyte dysfunction, affecting the relationship with perivascular cells. The relationship between the nerve and blood unit affects the function of the nerve blood unit, leading to calcification; on the other hand, it may affect the activity of glycosidase, leading to abnormal protein glycosylation metabolism in the brain, leading to calcification

Method used

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  • Human PFBC pathogenic gene MYORG with mutation at 1328th locus and application of human PFBC pathogenic gene MYORG
  • Human PFBC pathogenic gene MYORG with mutation at 1328th locus and application of human PFBC pathogenic gene MYORG
  • Human PFBC pathogenic gene MYORG with mutation at 1328th locus and application of human PFBC pathogenic gene MYORG

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0027]Example 1 Preliminary identification of pathogenic genes in PFBC families A and B using whole exome sequencing

[0028]According to the detailed medical history and family history investigation, as well as the standardized nervous system physical examination and related auxiliary examination information, two PFBC family samples were collected for pathogenic gene detection and analysis.

[0029](1) Sample information of PFBC family A and B

[0030]The inventors first started with two autosomal recessive PFBC families (family A and B). After testing, no known pathogenic genes (SLC20A2, PDGFRB, PDGFB and XPR1) were detected in PFBC patients in these two families. The related mutations suggest that there may be a new PFBC pathogenic gene. Among them, family A contains 2 PFBC patients (numbered V7 and V9, V9 is a proband), both of which are manifested as globus pallidus and large calcification of cerebellum (Figure 7 ), dysarthria, ataxia, and his parents are close relatives married. There ...

Embodiment 2

[0035]Example 2 Sanger method sequencing to verify MYORG pathogenic gene mutations in PFBC families A and B

[0036]Since only MYORG is a gene shared in these two families (family A and B), the inventors used the kit and method proposed by the present invention to amplify the gene fragment where the mutation is located (see Example 6 for the specific kit and method) , Using Sanger sequencing to further verify MYORG gene mutations in 12 related members of family A (PFBC patients: V7, V9, non-PFBC members: IV6, IV7, V1, V2, V3, V4, V5, V6, VI1, VI2) And testing. It was found that two patients in family A did contain c.225G of MYORG gene>A homozygous mutation, and the remaining 10 normal persons in the family were not found to carry the homozygous mutation at this locus, indicating that the MYORG gene mutation co-segregated with the disease phenotype in this family. Among them, the 225th base G mutation of MYORG gene was found to be A, that is, c.225G>A is a new mutation of the gene, whic...

Embodiment 3

[0037]Example 3 Screening of MYORG pathogenic gene mutations in other PFBC families

[0038]Since only MYORG is a gene shared in families A and B, we further expanded the family sample verification, and performed the MYORG full coding region for probands with 8 autosomal recessive PFBC families and 3 families with unknown inheritance. Mutation screening. According to MYORG's wild-type gene coding sequence SED ID NO:1, the primer pair SED ID NO:21-28 was designed to amplify the entire coding region sequence, and Sanger sequencing was performed. The primer pair amplification system and conditions shown in SED ID NO: 27-28 are the same as SED ID NO: 21-26 (see Example 6 for specific kits and methods). The probands of the four families of C, D, E, and F all contained compound heterozygous or homozygous mutations in the MYORG gene. Two compound heterozygous mutations in the MYORG gene were found in the C family, one of which is c.225G>A (same family A), the second is c.1321C>G is the mutati...

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Abstract

The invention discloses a novel pathogenic gene, namely an MYORG gene, for inheriting primary familial brain calcification, provides a coding sequence of a pathogenic mutant gene as shown in SEQ ID NO: 3, and further provides a coding protein sequence of the MYORG mutant gene as shown in SEQ ID NO: 13. The sequences and mutation loci of the sequences can be used as detection targets of a PFBC diagnosis method and targets for development of prevention and treatment drugs, and in addition, experimental basis and theoretical basis can be provided for research on pathogenesis of PFBC, clinical diagnosis and treatment methods and drug development. Aiming at the detection of the MYORG gene mutation, the invention develops a corresponding detection kit and detection method based on PCR amplification and Sanger sequencing, and can simply, conveniently and effectively detect the MYORG gene mutation.

Description

[0001]This case is a divisional application of patent application 201810552232.6 (application date: May 31, 2018, title of invention: primary familial brain calcification pathogenic gene MYORG and its application).Technical field[0002]The present invention relates to human variant genes, in particular to a pathogenic mutant form of MYORG, a new pathogenic gene of primary familial cerebral calcification. The invention also relates to a protein encoded by the MYORG mutant gene, a mutant gene detection kit and a detection method thereof.Background technique[0003]Primary familial brain calcification (PFBC) is a genetic disease of the nervous system characterized by symmetrical calcification of the basal ganglia or other brain parts. Since the disease was systematically described by Fahr scholars in 1930, it is also called Fahr disease. The disease occurs more often than in middle age, and the course of the disease progresses slowly, with no obvious gender differences. The clinical sympt...

Claims

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Application Information

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Patent Type & Authority Applications(China)
IPC IPC(8): C12N15/56C12N9/24C12Q1/6883C12Q1/6858
CPCC12Q1/6883C12Q2600/156C12N9/24Y02A50/30
Inventor 赵淼姚香平程学文王柠陈万金
Owner THE FIRST AFFILIATED HOSPITAL OF FUJIAN MEDICAL UNIV
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