COL5A3 mutant gene and applications of mutant gene in gene detection of primary glaucoma

• Main Author: SU WEIKUN
• Format: Patent
• Language: Chinese; English
• Published: 25.09.2020
• 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 firstly provides a specific human COL5A3 mutant gene. The mutant gene is formed through the g.[163_166delGACC] mutation of the wild type COL5A3 gene, and the segment sequence of the mutant gene is shown as Seq ID NO: 2. The COL5A3 mutant gene carrying g.[163_166delGACC] can cause the occurrence of primary glaucoma, and patients often have joint pain symptoms. Amplification is performed on the COL5A3 mutant gene segment carrying g.[163_166delGACC] by adopting primers of which sequences are shown as SEQ ID NO: 5 and SEQ ID NO: 6. The provided specific COL5A3 mutant gene can provideand establish bases for the analysis of pathogenesis of primary glaucoma, detection of pathogenic genes, the development of treatment drugs and targeted prevention and treatment, and can also be usedfor guiding fertility and assisting the screening for embryo in the third generation of in-vitro fertilization technology. 本发明首次提供了一种特定的人COL5A3突变基因，该突变基因是由于野生型COL5A3基因发生g.[163_166delGACC]缺失突变而形成的，所述突变基因片段序列如Seq ID NO：2所示。携带g.