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    • 8. 发明公开
    • 티지에프베타3 유전자 돌연변이를 이용한 구순구개열 질환의 진단
    • 通过检测TGF-β3基因突变体来检测非特异性CLEFT LIP和PALATE的方法,其中18-141个TGF-βB基因的核苷酸从A至G取代
    • KR1020050020116A
    • 2005-03-04
    • KR1020030057802
    • 2003-08-21
    • 경북대학교 산학협력단
    • 최제용김성곤채창훈
    • C12Q1/68
    • PURPOSE: A method for diagnosis of nonsyndromic cleft lip and palate using TGF-B3 gene mutant is provided, thereby reducing the diagnosis time by analyzing the TGF-B3 fragments where the presence of mutants is expected instead of the total fragments of TGF-B3. CONSTITUTION: An oligonucleotide which specifically binds to a region containing a 18141th nucleotide of the TGF-B3 gene to detect substitution of 18141th nucleotide from A to G is provided, wherein the oligonucleotide has the nucleotide sequence of SEQ ID NO:1 and SEQ ID NO:2. An oligonucleotide which specifically binds to a region containing a 18141th nucleotide in intron 5 of the TGF-B3 gene to detect substitution of 18141th nucleotide from A to G using a SfaN1 restriction enzyme digestion method is provided, wherein the oligonucleotide has the nucleotide sequence of SEQ ID NO:3 and SEQ ID NO:4. The method for diagnosis of nonsyndromic cleft lip and palate using TGF-B3 gene mutant comprises detecting the TGF-B3 gene mutant in which a 18141th nucleotide of TGF-B3 gene is substituted from A to G.
    • 目的:提供使用TGF-B3基因突变体诊断非综合性唇裂和腭裂的方法,通过分析其中预期存在突变体而不是TGF-B3的总片段的TGF-B3片段来减少诊断时间。 构成:提供特异性结合含有TGF-β3基因的第18141位核苷酸的区域以检测第18141位核苷酸从A至G的取代的寡核苷酸,其中寡核苷酸具有SEQ ID NO:1和SEQ ID NO :2。 提供了特异性结合TGF-β3基因的内含子5中含有第18141位核苷酸的区域以检测使用SfaN1限制酶消化方法从A至G取代第18141位核苷酸的寡核苷酸,其中寡核苷酸具有SEQ ID NO: ID NO:3和SEQ ID NO:4。 使用TGF-B3基因突变体诊断非综合性唇裂和腭裂的方法包括检测其中TGF-β3基因的第18141位核苷酸从A至G被取代的TGF-β3基因突变体。