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.