USE OF HOMO SAPIENS CHROMOSOME 1 OPEN READING FRAME 28 (C1ORF28) IN THE DIAGNOSIS OF HYPERPARATHYROIDISM-JAW TUMOR SYNDROME

摘要

The present invention provides an isolated or purified oligonucleotide consisting essentially of the nucleotide sequence of Clorf28 and comprising a mutation; a fragment of the oligonucleotide; a vector comprising the oligonucleotide or fragment thereof; a cell comprising the vector; an isolated or purified polypeptide encoded by the above oligonucleotide or fragment thereof; a method of detecting HPT-JT or a predisposition to HPT-JT in a human, which method comprises detecting either at least one mutation in a nucleic acid comprising the nucleotide sequence of C1orf28 or a mutant C1orf28 protein; and an antibody which binds to a mutant C1orf28 protein.