Neurofibromatosis type I virulence gene mutation and etiological diagnosis agent based on neurofibromatosis type I virulence gene mutation

• Main Author: YU PING
• Format: Patent
• Language: Chinese; English
• Published: 31.05.2017
• 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 relates to neurofibromatosis type I virulence gene mutation and an etiological diagnosis agent based on neurofibromatosis type I virulence gene mutation. The etiological diagnosis agent comprises point mutation analysis kits including a total RNA extraction system kit, a RNA reverse transcription and cDNA amplification system kit and a cDNA sequencing system kit. The total RNA extraction system kit is used for total RNA extraction of peripheral venous blood of a tested subject; the cDNA sequencing system kit is used for PCR amplification of cDNA obtained by reverse transcription and five primer pairs as shown in SEQ ID NO.7-16, nested PCR amplification and sequencing of cDNA five long segments obtained by amplification and primer pairs as shown in SEQ ID NO.17-60, and comparison with an original NF1 gene coding DNA sequence; if c.7106G>A and p.W2369X mutation exists in an amplified product, a neurofibromatosis type I patient is determined. The etiological diagnosis agent has advantages of time s