Patent ID: 11932908
Assignee: nan
Field: Pharmaceuticals (Chemistry)
Classification: CPC C  A | IPC C

Claim 0:
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 a 729G>A polymorphism under stringent hybridization conditions but incapable of hybridizing to a portion of the EFHC gene that does not comprise the 729G>A polymorphism under stringent hybridization conditions, wherein the EFHC1 gene comprises at least 85% sequence identity to SEQ ID NO: 3;
(c) detecting hybridization of the one or more labelled oligonucleotides with the EFHC1 gene or the portion thereof under stringent hybridization conditions; and
(d) detecting the polymorphism in an EFHC1 gene in the human subject.