POLD1 EXHIBITING GENETIC PLEIOTROPY AND METHOD FOR DIAGNOSING DISEASES USING SAME

摘要

The present invention relates to a kit for diagnosing cancer, MDP syndrome and sensorineural hearing loss by using POLD1 exhibiting genetic pleiotropy, and to a method for providing information for diagnosis. The phenotypes of POLD1 mutation are expressed in cancer, MDP syndrome, and sensorineural hearing loss depending on the genotypes, and thus the activity of DNA polymerases and exonucleases of POLD1 active domains, according to one aspect, are measured so that the cancer, MDP syndrome, and sensorineural hearing loss can be simultaneously identified, thereby enabling early diagnosis of diseases and personalized treatment.