Human idiopathic basal ganglia calcification pathogenic gene and detection method thereof

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...

AI Technical Summary

Problems solved by technology

Due to the limitation of the length of single-reaction sequencing (within 1000bp), the comprehensive analysis based on the traditional Sanger sequencing method is expensive, time-consuming and laborious

However, mutation detection methods based on real-time fluorescent quantitative PCR can only target a small number of known mutations.

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