发明授权
EP1417305B1 IDENTIFICATION OF A DNA VARIANT ASSOCIATED WITH ADULT TYPE HYPOLACTASIA
有权
鉴定所获得的乳糖不耐受相关的DNA变体的
- 专利标题: IDENTIFICATION OF A DNA VARIANT ASSOCIATED WITH ADULT TYPE HYPOLACTASIA
- 专利标题(中): 鉴定所获得的乳糖不耐受相关的DNA变体的
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申请号: EP02794596.3申请日: 2002-08-09
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公开(公告)号: EP1417305B1公开(公告)日: 2012-07-18
- 发明人: PELTONEN, Leena National Public Health Institute , ENATTAH, Nabil National Public Health Institute , JÄRVELÄ, Irma National Public Health Institute , SAHI, Timo , SAVILAHTI, Erkki , TERWILLIGER, Joseph Columbia University, Dept. of
- 申请人: National Public Health Institute
- 申请人地址: Mannerheimintie 166 00300 Helsinki FI
- 专利权人: National Public Health Institute
- 当前专利权人: National Public Health Institute
- 当前专利权人地址: Mannerheimintie 166 00300 Helsinki FI
- 代理机构: Vossius & Partner
- 优先权: EP01119377 20010810; EP01119528 20010814; US315955P 20010831
- 国际公布: WO2003014342 20030220
- 主分类号: C12N15/00
- IPC分类号: C12N15/00
摘要:
The present invention relates to a nucleic acid molecule comprising a 5' portion of an intestinal lactase-phlorizine hydrolase (LPH) gene contributing to or indicative of the adult-type hypolactasia wherein said nucleic acid molecule is selected from the group consisting of (a) a nucleic acid molecule having or comprising the nucleic acid sequence of SEQ ID NO: 1, the sequence of SEQ ID NO:1 is also depicted in the Fig. 4 and comprised in the sequence as depicted in the Fig. 8; (b) a nucleic acid molecule having or comprising the nucleic acid sequence of SEQ ID NO: 2, the sequence of SEQ ID NO:2 is also depicted in Fig.5 and comprised in the sequence as depicted in the Fig. 9; (c) a nucleic acid molecule of at least 20 nucleotides the complementary strand of which hybridizes under stringent conditions to the nucleic acid molecule of (a) or (b), wherein said polynucleotide/nucleic acid molecule has at a position corresponding to position -13910 5' from the LPH gene a cytosine residue; and (d) a nucleic acid molecule of at least 20 nucleotides the complementary strand of which hybridizes under stringent conditions to the nucleic acid molecule of (a) or (b), wherein said polynucleotide/nucleic acid molecule has at a position corresponding to position -22018 5' from the LPH gene a guanine residue. The present invention further relates to methods for testing for the presence of or predisposition to adult-type hypolactasia that are based on the analysis of an SNP contained in the above recited nucleic acid molecule. Additionally, the present invention relates to diagnostic composition and kit useful in the detection of the presence of or predisposition to adult-type hypolactasia.
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