Human idiopathic basal ganglia calcification pathogenic gene and detection method thereof
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A technology of basal ganglia calcification and pathogenic genes, applied in chemical instruments and methods, biochemical equipment and methods, genetic engineering, etc., can solve problems such as high cost, time-consuming and laborious
Active Publication Date: 2017-06-13
THE FIRST AFFILIATED HOSPITAL OF FUJIAN MEDICAL UNIV
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Due to the limitation of the length of single-reaction sequencing (within 1000bp), the comprehensive analysis based on the traditional Sanger sequencing method is ex...
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Embodiment 1
[0039] According to the detailed medical history and family history investigation, as well as standardized nervous system physical examination and related auxiliary examination information, 10 IBGC patients in the hospital were selected to perform disease-causing gene detection and analysis under the condition that they signed the informed consent.
[0040] (1) PCR capture of 4 pathogenic genes
[0041] Get 10ml of patient's cubital venous blood (EDTA anticoagulant), extract genomic DNA with QIAamp DNA Blood Mini Kit (Qiagen, Germany), use it as a template, use the PCR capture primer set in Table 1 to prepare an amplification system according to Table 2, and The reaction was carried out according to the conditions in Table 3 on a conventional PCR instrument.
[0042] (2) Analysis of gene mutation spectrum by next-generation sequencing
[0043] The multiple PCR amplification products in (1) were sent to Shanghai Jingneng Biotechnology Co., Ltd. for next-generation sequencing. ...
Embodiment 2
[0059] Another 12 IBGC patients different from Example 1 and 200 normal human blood samples were taken for analysis, the method was the same as that of Example 2, and the results are shown in Table 7.
[0060] Table 7 Detection and verification results of pathogenic genes in 12 IBGC patients
[0061]
[0062] The mutations of IBGC patients in Table 5 have been verified by Sanger sequencing, and all mutated genes belong to the 7 gene mutation forms; and in 200 normal people, there are no such mutations, thus from both positive and negative aspects It is verified again that the IBGC pathogenic gene provided by the present invention and the detection method provided by the present invention have good reliability and accuracy.
[0063] Although the present invention has been described in terms of preferred specific embodiments, various modifications and variations of the present invention will occur to those skilled in the art. Any modifications, equivalent replacements, impro...
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Abstract
The invention relates to a human idiopathic basal ganglia calcification pathogenic gene and a detection method thereof. Human idiopathic basal ganglia calcification, namely IBGC is a neurodegenerative genetic disease. The invention provides seven mutation forms of four pathogenic genes including SLC20A2 (Sodium-dependent phosphate transporter 2), PDGFRB (Platelet-derived Growth Factor Receptor Beta), PDGFB (Platelet-derived Growth Factor Subunit B) and XPR1 (Xenotropic and Polytropic Retrovirus Receptor 1) and sequences of the seven mutation forms are shown as SEQ ID NO.1 to SEQ ID NO.7. The form of the pathogenic gene provided by the invention is not reported until now and can provide evidence and lay a foundation for analysis and medicine development of a pathogenic mechanism, pathogenic gene screening and detection, formulation of a therapeutic regimen and the like. Meanwhile, the invention constructs a pathogenic gene detection method; the pathogenic gene detection method comprises the following steps: firstly, capturing a pathogenic gene exon region by utilizing multi-PCR (Polymerase Chain Reaction); carrying out next generation sequencing on the pathogenic gene exon region and carrying out information analysis to find out mutation; finally, identifying the mutation by utilizing Sanger sequencing, wherein a PCR captured primer group comprises amplification primer sequences SEQ ID NO.12 to SEQ ID NO.23, and amplification primer sequences of a Sanger sequencing segment are shown as SEQ ID NO.24 to SEQ ID NO.35. The detection method provided by the invention covers all exons of the four pathogenic genes and can be used for efficiently, comprehensively, rapidly and accurately acquiring mutation information.
Description
technical field [0001] The invention relates to a gene and a detection method thereof, in particular to a human idiopathic basal ganglia calcification pathogenic gene and a detection method thereof. Background technique [0002] Human idiopathic basal ganglia calcification (IBGC) is a neurodegenerative genetic disease characterized by symmetrical calcification of the basal ganglia and other parts of the brain on imaging, also known as Fahr's disease. The most common site of calcification is the lenticular nucleus of the basal ganglia, especially the globus pallidus, and it is also common in the putamen, thalamus, caudate nucleus, and dentate nucleus of the cerebellum, and even in the cerebral cortex and subcortical white matter. IBGC is a rare disease with sporadic or familial onset, and the onset age of familial patients advances from generation to generation, with slow progression and long course of disease. There is no obvious gender difference in the disease, which mani...
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