Human PFBC virulence gene MYORG with 1092nd to 1097th sites mutated and application of human PFBC virulence gene MYORG

• Main Authors: YAO XIANGPING, CHEN WANJIN
• Format: Patent
• Language: Chinese; English
• Published: 20.04.2021
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS OR TEST PAPERS THEREFOR; COMPOSITIONS THEREOF; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES; CULTURE MEDIA; ENZYMOLOGY; MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS; METALLURGY; MICROBIOLOGY; MICROORGANISMS OR ENZYMES; MUTATION OR GENETIC ENGINEERING; PROCESSES OF PREPARING SUCH COMPOSITIONS; PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS; SPIRITS; VINEGAR; WINE

The invention discloses a novel pathogenic gene, namely an MYORG gene, for inheriting primary familial cerebral calcification, provides a coding sequence of a pathogenic mutant gene as shown in SEQ ID NO: 10, and further provides a coding protein sequence of the MYORG mutant gene as shown in SEQ ID NO: 20. The sequences and mutation sites of the sequences can be used as detection targets of a PFBC diagnosis method and targets for development of prevention and treatment drugs, and in addition, experimental basis and theoretical basis can be provided for research on pathogenesis of PFBC, clinical diagnosis and treatment methods and drug development. Aiming at the detection of the MYORG gene mutation, the invention develops a corresponding detection kit and detection method based on PCR amplification and Sanger sequencing, and the MYORG gene mutation can be simply, conveniently and effectively detected. 本发明揭示了遗传原发性家族性脑钙化症的一种新的致病基因即MYORG基因，提供了如SEQ ID NO：10所示的致病突变基因的编码序列，并进一步提供了MYORG突变基因的编码蛋白质序列如SEQ ID NO：20所示，可以将