公开(公告)号：US06818758B2

公开(公告)日：2004-11-16

申请号：US09768185

申请日：2001-01-24

申请人： Francis Kalush ,  Michael J Cassel ,  Stuart Soo-In Hwang ,  Emily S Winn-Deen

发明人： Francis Kalush ,  Michael J Cassel ,  Stuart Soo-In Hwang ,  Emily S Winn-Deen

IPC分类号： C12Q168

CPC分类号： C12Q1/6883 ,  C07K14/70567 ,  C12Q2600/156

摘要： The present invention is based on sequencing genomic DNA from human chromosome 6 and cDNAs to define the genomic structure of estrogen receptor beta genes and novel polymorphism in the estrogen receptor gene/protein. Such polymorphism can lead to a variety of disorders that are mediated/modulated by a variant estrogen receptor, such as a susceptibility to cancer, osteoporosis, cardiovascular disorder, etc. Based on this sequencing approach, the present invention provides genomic nucleotide sequences, cDNA sequences, amino acid sequences and sequence polymorphism in the ESR-beta genes, methods of detecting these sequences/polymorphism in a sample, methods of determining a risk of having or developing a disorder mediated by a variant estrogen receptor and methods of screening for compounds used to treat disorders mediated by a variant estrogen receptor.

摘要翻译： 本发明基于来自人染色体6的基因组DNA和cDNAs来定义雌激素受体基因的基因组结构和雌激素受体基因/蛋白质中的新型多态性。 这种多态性可导致由变体雌激素受体介导/调节的多种疾病，例如对癌症的易感性，骨质疏松症，心血管疾病等。基于该测序方法，本发明提供基因组核苷酸序列，cDNA序列 ，ESR-β基因中的氨基酸序列和序列多态性，检测样品中的这些序列/多态性的方法，确定具有或发展由变体雌激素受体介导的病症的风险的方法以及筛选用于 治疗由变体雌激素受体介导的疾病。