| 摘要 |
The present invention is based on sequencing genomic DNA from human chromoso me 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, osteoporosi s, 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.
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