Marfan syndrome variant gene FBN1 and application thereof

• Main Authors: GAO XUAN, HOU QING, QU XIAOHUAN, HUANG JINGWEN, LIU ZHE, LIANG QINGYUAN, LAI KAISHENG, HUI RUTAI, ZHAO NANA, LI FANGYU, LIU XINCHAO
• Format: Patent
• Language: Chinese; English
• Published: 28.03.2023
• 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; ORGANIC CHEMISTRY; PEPTIDES; PROCESSES OF PREPARING SUCH COMPOSITIONS; PROPAGATING, PRESERVING OR MAINTAINING MICROORGANISMS; SPIRITS; VINEGAR; WINE

The invention relates to the technical field of gene detection, in particular to a Marfan syndrome variant gene FBN1, compared with a reference sequence SEQ ID NO: 5 of a wild type FBN1 gene, a base C at the 4428th site of the variant gene FBN1 mutates into a base A, and the nucleotide sequence is SEQ ID NO: 1. The invention also relates to an application of the Marfan syndrome variation gene FBN1 in preparation of a detection kit. The Marfan syndrome variation gene FBN1 provided by the invention can be used as a biomarker for clinical auxiliary diagnosis; the detection of the carrier of the variation provides prenatal guidance and genetic counseling for subjects, reduces the birth of children patients, and is of great significance in early diagnosis of Marfan syndrome or auxiliary clinical judgment. 本发明涉及基因检测技术领域，具体涉及了一种马凡综合征变异基因FBN1，与野生型FBN1基因的参考序列SEQ ID NO:5相比，所述变异基因FBN1第4428位的碱基C突变为碱基A，核苷酸序列为SEQ ID NO:1。本发明还涉及上述马凡综合征变异基因FBN1在制备检测试剂盒中的应用。本发明提供的马凡综合征变异基因FBN1可以作为临床辅助诊断的生物标志物；检测该变异的携带者，为受试者提供优生优育指导和遗传咨询，减少患儿出