发明名称 Genetic marker for the diagnosis of dementia with Lewy bodies
摘要 Specific alterations in BChE gene have been found which allow determining whether a patient suffers from dementia with Lewy bodies (DLB), and allow distinguishing it from Alzheimer's disease. The invention provides an in vitro method for the diagnosis of DLB comprising determining in a biological sample from a subject, the genotype of the following alterations in butyrylcholinesterase (BChE) gene: the polymorphic sites at position 68974 in NCBI Accession Number NG_009031 (i.e. position 934 in SEQ ID NO: 28), and the polymorphic sites 3687, 4206, 4443, and the poly-thymine region at positions 4780 to 4786, said positions with reference to NCBI Accession Number NG_009031 (i.e. positions 3687, 4206 and 4443 respectively in SEQ ID NO: 1), which corresponds to the nucleotide sequence of human BChE gene.
申请公布号 EP2360280(A1) 申请公布日期 2011.08.24
申请号 EP20100382042 申请日期 2010.02.24
申请人 FUNDACIO INSTITUT D'INVESTIGACIO EN CIENCIES DE LA SALUT GERMANS TRIAS I PUJOL;UNIVERSITAT AUTONOMA DE BARCELONA 发明人 BEYER, KATRIN;MONTSERRAT, DOMINGO SABAT;ARIZA FERNANDEZ, AURELIO
分类号 C12Q1/68 主分类号 C12Q1/68
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