| abstract |
The invention provides a primary familial brain calcification pathogenic gene JAM2 and application thereof. Specifically, the invention provides an application of JAM2 gene, or protein thereof, or a detection reagent thereof, in preparing a detection reagent or a kit, wherein the detection reagent or the kit is used for detecting primary familial brain calcification and/or susceptibility thereof. The invention identifies a new pathogenic gene of JAM2 gene as autosomal recessive inheritance primary familial brain calcification for the first time; and, the primary familial brain calcification patient and/or susceptibility thereof can be diagnosed by detecting mutation of JAM2 gene or protein thereof. |