Patent ID: 9220697
Filing Date: 2015-12-29
Classification: A61K,A61P,C07K,C12Q

Abstract:
1. A method of detecting a polymorphism in an EFHC1 gene in a human subject, comprising: (a) providing a biological sample from a human subject, wherein the sample comprises all, or a portion of, an EFHC1 gene; (b) contacting one or more labeled oligonucleotide probes under stringent hybridization conditions to the EFHC1 gene or the portion thereof, wherein each oligonucleotide probe is capable of hybridizing to a portion of the EFHC1 gene comprising the 330C>A or 763G>A polymorphism under stringent hybridization conditions but incapable of hybridizing to a portion of the EFHC gene that does not comprise the 330C>A and 763G>A polymorphisms under stringent hybridization conditions, wherein the EFHC1 gene comprises at least 85% sequence identity to SEQ ID NO: 3; and (c) detecting hybridization of the one or more labelled oligonucleotides with the EFHC1 gene or the portion thereof under stringent hybridization conditions; (d) detecting a polymorphism in an EFHC1 gene in the human subject.