发明名称 HEMATOLOGIC AND RENAL OR CARDIOVASCULAR PHENOTYPES IN RELATION TO THE POLYMORPHISM IN THE beta-ADDUCIN GENE
摘要 The present invention demonstrates that the polymorphism in the beta-adducin gene, and more specifically the C1797T polymorphism (SNP number: rs4984), is associated with a predisposition for specific health problems. Indeed, it was observed that said SNP polymorphism is associated with both hematologic and renal or cardiovascular conditions. These findings are important given that the lifetime exposure to a genetic effect, albeit mild, can in the long-term cause health problems. Typical health problems associated with an individual's hematologic condition are, for instance, anemia, gallstones and acute or chronic cholecystis or cholangitis. On the other hand, hypertension often reflects renal or cardiovascular imbalances. Therefore, a first object of the present invention relates to a method to determine the predisposition of an individual to a hematologic condition and/or a renal or cardiovascular condition, wherein said method comprises the analysing of the DNA sequence of the beta-adducin gene in a tissue sample isolated from said individual and determining the polymorphism pattern for the C1797T polymorphic position in the beta-adducin gene. In a more preferred embodiment of the invention the determination of the polymorphism pattern for the C1797T polymorphic position in the beta-adducin gene is used to assess an individual's predisposition to develop anemia and/or hypertension.
申请公布号 WO03102229(A1) 申请公布日期 2003.12.11
申请号 WO2003BE00095 申请日期 2003.06.02
申请人 K.U.LEUVEN RESEARCH AND DEVELOPMENT;STAESSEN, JAN;BIANCHI, GUISEPPE 发明人 STAESSEN, JAN;BIANCHI, GUISEPPE
分类号 C12Q1/68;(IPC1-7):C12Q1/68 主分类号 C12Q1/68
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