Search for Novel Mutational Targets in Human Endocrine Diseases
- Author:
So Young PARK
1
;
Myeong Han SEO
;
Sihoon LEE
Author Information
- Publication Type:Review
- Keywords: Genes; Mutation; Endocrinology; Genomics; High-throughput nucleotide sequencing
- MeSH: Diagnosis; Endocrine System Diseases; Endocrinology; Genetic Testing; Genetic Variation; Genetics; Genomics; High-Throughput Nucleotide Sequencing; Humans
- From:Endocrinology and Metabolism 2019;34(1):23-28
- CountryRepublic of Korea
- Language:English
- Abstract: The identification of disease-causing genetic variations is an important goal in the field of genetics. Advancements in genetic technology have changed scientific knowledge and made it possible to determine the basic mechanism and pathogenesis of human disorders rapidly. Many endocrine disorders are caused by genetic variations of a single gene or by mixed genetic factors. Various genetic testing methods are currently available, enabling a more precise diagnosis of many endocrine disorders and facilitating the development of a concrete therapeutic plan. In this review article, we discuss genetic testing technologies for genetic endocrine disorders, with relevant examples. We additionally describe our research on implementing genetic analysis strategies to identify novel causal mutations in hypocalcemia-related disorders.
