公开(公告)号：KR1020040024783A

公开(公告)日：2004-03-22

申请号：KR1020020056229

申请日：2002-09-16

Applicant: 삼성전자주식회사

Inventor： 이연수 ,  정성영 ,  안규정 ,  김병준 ,  김숙영 ,  김미경

IPC: C12N15/12

CPC classification number: C12Q1/6883 ,  C07K14/4702 ,  C12Q2600/156

Abstract: PURPOSE: A variant of HNF-1a gene having novel single nucleotide polymorphism and a variant protein encoded by the same gene are provided. The variant of HNF-1a and the variant protein are useful for diagnosis of MODY(maturity onset diabetes of the young) disease. CONSTITUTION: A variant of HNF-1a gene having novel single nucleotide polymorphism is a nucleic acid fragment containing a polymorphic site of base A at nucleotide position 1699 in the nucleotide sequence set forth in SEQ ID NO: 1 or a polymorphic site of base T at nucleotide position 29 in the nucleotide sequence set forth in SEQ ID NO: 3, and 10 or more of consecutive nucleotides derived from the nucleotide sequences of SEQ ID NO: 1 or SEQ ID NO: 3, or a complementary gene thereof. An allele specific oligonucleotide hybridized with the nucleic acid fragment or complementary gene thereof is provided, wherein the allele specific oligonucleotide is a probe or a primer.

Abstract translation: 目的：提供具有新型单核苷酸多态性的HNF-1a基因变体和由相同基因编码的变体蛋白。 HNF-1a和变体蛋白的变体可用于诊断MODY（年轻成熟期糖尿病）疾病。 构成：具有新的单核苷酸多态性的HNF-1a基因的变体是在SEQ ID NO：1所示的核苷酸序列的碱基序列1699处含有碱基A的多态性位点的核酸片段或碱基T的多态性位点 在SEQ ID NO：3所示的核苷酸序列中的核苷酸位置29以及衍生自SEQ ID NO：1或SEQ ID NO：3的核苷酸序列的10个以上的连续核苷酸或其互补基因。 提供了与核酸片段或其互补基因杂交的等位基因特异性寡核苷酸，其中等位基因特异性寡核苷酸是探针或引物。