Primer for identifying MTHFR gene variation and method for diagnosing human MTHFR gene variation related diseases by the primer

• Main Authors: KIM, SEOK JUN, KIM, SU OK, HONG, SEON PYO, YOO, WANG DON, JUNG, HYEON JAE, LEE, HWAN SEOK
• Format: Patent
• Language: English; Korean
• Published: 01.07.2004
• Edition: 7
• Subjects: BEER; BIOCHEMISTRY; CHEMISTRY; COMPOSITIONS OR TEST PAPERS THEREFOR; CONDITION-RESPONSIVE CONTROL IN MICROBIOLOGICAL ORENZYMOLOGICAL PROCESSES; ENZYMOLOGY; MEASURING OR TESTING PROCESSES INVOLVING ENZYMES, NUCLEICACIDS OR MICROORGANISMS; METALLURGY; MICROBIOLOGY; MUTATION OR GENETIC ENGINEERING; PROCESSES OF PREPARING SUCH COMPOSITIONS; SPIRITS; VINEGAR; WINE

PURPOSE: A primer for identifying MTHFR gene variation and a method for diagnosis of human MTHFR gene variation related diseases using the same are provided, thereby anticipating the outbreak possibility of valvular disease of the heat and thrombosis. CONSTITUTION: The method for diagnosis of human MTHFR gene variation related diseases comprises the steps of: (a) amplifying a portion of the nucleotide sequence containing a nucleotide at nucleotide position -733 from an initiation codon of a methylenetetrahydrofolate reductase(MTHFR) gene derived from human using a primer for identifying MTHFR gene variation; (b) digesting the amplified portion of the nucleotide sequence containing a nucleotide at nucleotide position -733 with different recognition enzymes; and (c) measuring the molecular weights of the digested fragments, wherein the primer for identifying MTHFR gene variation has the nucleotide sequence set forth in SEQ ID NO: 2 or SEQ ID NO: 7, and the reverse primer has the nucleotide sequence set forth in SEQ ID NO: 3 or SEQ ID NO: 8. 본 발명은 MTHFR 유전자 변이 분석용 프라이머 및 그 프라이머를 이용한 인간 MTHFR 유전자 변이 관련 질병 진단방법에 관한 발명으로, 본 발명의 프라이머 및 인간 MTHFR 유전자 변이 관련 질병 진단방법을 이용함으로써 심장판막증과 혈전증 등에 대한 위험도를 예측할 수 있다.