Primary familial cerebral calcification pathogenic gene jam2 and its application

A gene and family technology, applied in primary familial cerebral calcification pathogenic gene JAM2 and its application field

Active Publication Date: 2022-02-15
ZHEJIANG UNIV
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  • Summary
  • Abstract
  • Description
  • Claims
  • Application Information

AI Technical Summary

Problems solved by technology

According to previous reports by different teams, only 13.6%-27.5% of PFBC patients can find pathogenic mutations in autosomal dominant PFBC pathogenic genes; at the same time, the only autosomal recessive PFBC pathogenic gene can only explain Approximately 46.2% of PFBC patients conformed to an autosomal recessive pattern

Method used

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  • Primary familial cerebral calcification pathogenic gene jam2 and its application
  • Primary familial cerebral calcification pathogenic gene jam2 and its application
  • Primary familial cerebral calcification pathogenic gene jam2 and its application

Examples

Experimental program
Comparison scheme
Effect test

Embodiment 1

[0140] Example 1: Screening of pathogenic genes in PFBC family A

[0141] The inventor collected a PFBC family A, and judged that the family was an autosomal recessive PFBC family based on detailed family history, disease history, nervous system examination and related auxiliary examinations. The 2 PFBC patients in this family (F1-II:2, F1-II:3) both showed large areas of basal ganglia, thalamus, dentate nucleus, vermis, cerebral cortex, subcortical white matter, and midbrain Calcification, clinical manifestations of Parkinson's disease and dysarthria, his parents were consanguineous marriages, and both parents' head CT was negative.

[0142] Through the detection of related mutations in five known genes (SLC20A2, PDGFRB, PDGFB, XPR1 and MYORG), no related mutations were found, suggesting that there may be new PFBC pathogenic genes.

[0143] In this example, the family A was screened for disease-causing genes and disease-causing mutations, as follows.

[0144] 1.1 Homozygo...

Embodiment 2

[0160] Example 2: Screening for JAM2 pathogenic gene mutations in other families

[0161] Since the JAM2 gene is the only pathogenic gene analyzed in the family, in this example, the family sample verification was further expanded, and the mutation screening of the entire coding region of JAM2 was performed on the probands of 398 PFBC families.

[0162] According to the wild-type gene coding sequence SEQ ID NO:1 of JAM2, a primer pair (see Table 1) was designed to amplify the entire coding region sequence, and Sanger sequencing was performed. Table 2 shows the primer pair amplification system and conditions.

[0163] Table 1 JAM2 DNA primer sequence

[0164]

[0165]

[0166] Table 2 Primer pair amplification system and conditions

[0167] Numbering Component Amount added / μL 1 10×PCR buffer(Mg2+) 5 2 dNTP Mixture (2.5mM each) 8 3 Primer F (10μM) 0.25 4 Primer R (10μM) 0.25 5 LA Taq DNA Polymerase 0.5 6 Genomic DNA ...

Embodiment 3

[0172] Example 3: Further Screening for JAM2 Gene Mutations

[0173] According to the study of the pathogenic mutation form and mutation function identified in the foregoing examples, it is suggested that the biallelic loss-of-function mutation is the main mutation type of JAM2 gene leading to PFBC.

[0174] Therefore, in this example, further screening of JAM2 gene mutations was carried out in the GnomAD v3 database. The screening conditions are: (i) mutations with clear loss of function (frameshift mutation, nonsense mutation, splice site mutation) and mutations that may cause loss of function (missense mutation, in-frame deletion / insertion mutation); (ii) ) There is no homozygous state in the normal population; (iii) The heterozygous carrier rate in the normal population is less than 0.01.

[0175] Finally, 15 JAM2 gene mutations with clear loss of function (Table 4) and 99 mutations that may lead to loss of JAM2 gene function (Table 4) were screened out. Among them, 15 JAM...

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Abstract

The invention provides the primary familial cerebral calcification pathogenic gene JAM2 and its application. Specifically, the present invention provides a use of the JAM2 gene, or its protein, or its detection reagent, for preparing a detection reagent or kit, which is used to detect primary familial brain calcification and / or its susceptibility. The present invention identifies JAM2 gene as a new pathogenic gene of autosomal recessive primary familial brain calcification for the first time; and, primary familial brain calcification can be diagnosed by detecting the mutation of JAM2 gene or its protein patients and / or their susceptibility.

Description

technical field [0001] The invention belongs to the field of biological technology, in particular to primary familial cerebral calcification pathogenic gene JAM2 and its application. Background technique [0002] Primary familial brain calcification (PFBC), formerly known as idiopathic basal ganglia calcification (IBGC), was first described by Delacour in 1850 and again by Fahr in 1930 This disease, posterity customarily calls it Fahr's disease (Fahr'sdisease). PFBC is a group of imaging features characterized by bilateral symmetrical brain calcification (basal ganglia is the main area and must be involved, and can also involve the dentate nucleus of the cerebellum, centrum semiovale, cortex, midbrain, pons, etc.), and may have palsy. Kinson's disease, ataxia, dysarthria, athetosis, chorea, dystonia, seizures, dementia, headache / migraine, psycho-emotional symptoms and other neurological hereditary diseases with clinical manifestations. [0003] Most patients with PFBC have...

Claims

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Application Information

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Patent Type & Authority Patents(China)
IPC IPC(8): C12Q1/6883G01N33/68C07K14/705C12N15/12A61K45/00A61P25/00A61P25/06A61P25/08A61P25/14A61P25/16A61P25/28
CPCC12Q1/6883G01N33/6896C07K14/70503A61K45/00A61P25/00A61P25/06A61P25/08A61P25/14A61P25/16A61P25/28C12Q2600/156G01N2800/2835G01N2800/2821G01N2800/2857G01N2800/2807G01N2800/28G01N2333/70503
Inventor 罗巍岑志栋杨德壕陈思王乐博陈欣辉王昊天
Owner ZHEJIANG UNIV
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